9449 lines
807 KiB
Text
9449 lines
807 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- #183090 - SPINOCEREBELLAR ATAXIA 2; SCA2
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=183090"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">#183090</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="/clinicalSynopsis/183090"><strong>Clinical Synopsis</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
|
|
<a href="/phenotypicSeries/PS164400,PS105400"> <strong>Phenotypic Series</strong> </a>
|
|
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#description">Description</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalFeatures">Clinical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#otherFeatures">Other Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#inheritance">Inheritance</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#pathogenesis">Pathogenesis</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#populationGenetics">Population Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://clinicaltrials.gov/search?cond=SPINOCEREBELLAR ATAXIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13773&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
|
|
<div id="mimGeneReviewsFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Hereditary Ataxia Overview</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1275/" title="Spinocerebellar Ataxia Type 2" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Spinocerebellar Ataxia Typ…</a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.diseaseinfosearch.org/x/6753" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=183090[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98756" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.alliancegenome.org/disease/DOID:0050955" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/disease/183090" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://omia.org/OMIA000740/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://wormbase.org/resources/disease/DOID:0050955" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cell Lines</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:183090" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
<strong>SNOMEDCT:</strong> 715751004<br />
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 98756<br />
|
|
|
|
|
|
<strong>DO:</strong> 0050955<br />
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
183090
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
SPINOCEREBELLAR ATAXIA 2; SCA2
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SPINOCEREBELLAR ATROPHY II<br />
|
|
OLIVOPONTOCEREBELLAR ATROPHY, HOLGUIN TYPE<br />
|
|
OLIVOPONTOCEREBELLAR ATROPHY II; OPCA2<br />
|
|
SPINOCEREBELLAR ATAXIA, CUBAN TYPE<br />
|
|
CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS<br />
|
|
WADIA-SWAMI SYNDROME<br />
|
|
SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13, INCLUDED; ALS13, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/813?start=-3&limit=10&highlight=813">
|
|
12q24.12
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Spinocerebellar ataxia 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> 183090 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ATXN2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> 601517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/813?start=-3&limit=10&highlight=813">
|
|
12q24.12
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Amyotrophic lateral sclerosis, susceptibility to, 13}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> 183090 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ATXN2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> 601517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/183090" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS164400,PS105400" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/183090" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/183090" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Slow saccades <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404686001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404686001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1321329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1321329</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000514</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000514</a>]</span><br /> -
|
|
Ophthalmoplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16110005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16110005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000602" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000602</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000602" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000602</a>]</span><br /> -
|
|
Gaze-evoked nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1220537002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1220537002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574666</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000640</a>]</span><br /> -
|
|
Dysmetric saccades <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000641" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000641</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000641" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000641</a>]</span><br /> -
|
|
Impaired horizontal smooth pursuit <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866753&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866753</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001151</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001151</a>]</span><br /> -
|
|
Ocular motor apraxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193662007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193662007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543874</a>, <a href="https://bioportal.bioontology.org/search?q=C3489733&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489733</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000657</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000657</a>]</span><br /> -
|
|
Retinitis pigmentosa (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28835009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sphincter disturbances <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843663&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843663</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002839</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002839</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cerebellar ataxia, progressive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230233000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230233000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0393525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002073</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002073</a>]</span><br /> -
|
|
Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
|
|
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
|
|
Dysmetria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32566006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32566006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234162</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span><br /> -
|
|
Dysdiadochokinesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23133003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23133003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234979</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002075</a>]</span><br /> -
|
|
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Limb ataxia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750937&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750937</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002070</a>]</span><br /> -
|
|
Action and postural tremor <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866747&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866747</a>]</span><br /> -
|
|
Fasciculation-like movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866748</a>]</span><br /> -
|
|
Myoclonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17450006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17450006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027066</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span><br /> -
|
|
Dementia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
|
|
Dopamine-responsive parkinsonism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866749&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866749</a>]</span><br /> -
|
|
Bradykinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399317006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399317006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span><br /> -
|
|
Rigidity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700109</a>, <a href="https://bioportal.bioontology.org/search?q=C0026837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span><br /> -
|
|
Postural instability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843921</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002172" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002172</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002172" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002172</a>]</span><br /> -
|
|
Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
|
|
Olivopontocerebellar atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/67761004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">67761004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028968&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028968</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002542" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002542</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002542" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002542</a>]</span><br /> -
|
|
Enlarged fourth ventricle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002198</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002198</a>]</span><br /> -
|
|
Posterior column degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866750&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866750</a>]</span><br /> -
|
|
Spinocerebellar tract degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866751</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002503" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002503</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002503" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002503</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Peripheral neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42658009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42658009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302226006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302226006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G64</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/350-359.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">350-359.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4721453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721453</a>, <a href="https://bioportal.bioontology.org/search?q=C0031117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000759</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001271" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001271</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>]</span><br /> -
|
|
Decreased vibration sense <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/130980003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">130980003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1295585&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1295585</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002495" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002495</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002495" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002495</a>]</span><br /> -
|
|
Distal muscular atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848736</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Mean age of onset in third decade<br /> -
|
|
Rarely reported in infants<br /> -
|
|
Extreme phenotypic variability<br /> -
|
|
May manifest as 'ataxic' phenotype without parkinsonian features<br /> -
|
|
May manifest as late-onset 'parkinsonian' phenotype without severe ataxic features<br /> -
|
|
High prevalence in Holguin province of Cuba<br /> -
|
|
Genetic anticipation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003743</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by expanded CAG trinucleotide repeats in the ataxin-2 gene (ATX2, <a href="/entry/601517#0001">601517.0001</a>).<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Amyotrophic lateral sclerosis
|
|
- <a href="/phenotypicSeries/PS105400">PS105400</a>
|
|
- 40 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/143?start=-3&limit=10&highlight=143"> 1p36.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612069"> Amyotrophic lateral sclerosis 10, with or without FTD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612069"> 612069 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605078"> TARDBP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605078"> 605078 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/143?start=-3&limit=10&highlight=143"> 1p36.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612069"> Frontotemporal lobar degeneration, TARDBP-related </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612069"> 612069 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605078"> TARDBP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605078"> 605078 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/333?start=-3&limit=10&highlight=333"> 2p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619133"> Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619133"> 619133 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603518"> TIA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603518"> 603518 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/377?start=-3&limit=10&highlight=377"> 2p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> {Amyotrophic lateral sclerosis, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> 105400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601143"> DCTN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601143"> 601143 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/921?start=-3&limit=10&highlight=921"> 2q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/205100"> Amyotrophic lateral sclerosis 2, juvenile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/205100"> 205100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606352"> ALS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606352"> 606352 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/976?start=-3&limit=10&highlight=976"> 2q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615515"> Amyotrophic lateral sclerosis 19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615515"> 615515 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600543"> ERBB4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600543"> 600543 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1035?start=-3&limit=10&highlight=1035"> 2q35 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616208"> Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616208"> 616208 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191110"> TUBA4A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191110"> 191110 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/475?start=-3&limit=10&highlight=475"> 3p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600795"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600795"> 600795 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609512"> CHMP2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609512"> 609512 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/666?start=-3&limit=10&highlight=666"> 4q33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617892"> {Amyotrophic lateral sclerosis, susceptibility to, 24} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617892"> 617892 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604588"> NEK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604588"> 604588 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/516?start=-3&limit=10&highlight=516"> 5q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606070"> Amyotrophic lateral sclerosis 21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606070"> 606070 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164015"> MATR3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164015"> 164015 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/837?start=-3&limit=10&highlight=837"> 5q35.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616437"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616437"> 616437 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601530"> SQSTM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601530"> 601530 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/769?start=-3&limit=10&highlight=769"> 6q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612577"> Amyotrophic lateral sclerosis 11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612577"> 612577 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609390"> FIG4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609390"> 609390 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/466?start=-3&limit=10&highlight=466"> 8q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620452"> Amyotrophic lateral sclerosis 28 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620452"> 620452 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618299"> LRP12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618299"> 618299 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/117?start=-3&limit=10&highlight=117"> 9p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105550"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105550"> 105550 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614260"> C9orf72 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614260"> 614260 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/152?start=-3&limit=10&highlight=152"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614373"> ?Amyotrophic lateral sclerosis 16, juvenile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614373"> 614373 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601978"> SIGMAR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601978"> 601978 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/160?start=-3&limit=10&highlight=160"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613954"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613954"> 613954 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601023"> VCP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601023"> 601023 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/301?start=-3&limit=10&highlight=301"> 9q22.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620285"> Amyotrophic lateral sclerosis 27, juvenile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620285"> 620285 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605712"> SPTLC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605712"> 605712 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/594?start=-3&limit=10&highlight=594"> 9q34.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602433"> Amyotrophic lateral sclerosis 4, juvenile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602433"> 602433 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608465"> SETX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608465"> 608465 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/61?start=-3&limit=10&highlight=61"> 10p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613435"> Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613435"> 613435 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602432"> OPTN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602432"> 602432 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/336?start=-3&limit=10&highlight=336"> 10q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617839"> Amyotrophic lateral sclerosis 23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617839"> 617839 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602572"> ANXA11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602572"> 602572 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/353?start=-3&limit=10&highlight=353"> 12q13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> {Amyotrophic lateral sclerosis, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> 105400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/170710"> PRPH </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/170710"> 170710 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/462?start=-3&limit=10&highlight=462"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615426"> Amyotrophic lateral sclerosis 20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615426"> 615426 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164017"> HNRNPA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164017"> 164017 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/547?start=-3&limit=10&highlight=547"> 12q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617921"> {Amyotrophic lateral sclerosis, susceptibility to, 25} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617921"> 617921 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602821"> KIF5A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602821"> 602821 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/581?start=-3&limit=10&highlight=581"> 12q14.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616439"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616439"> 616439 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604834"> TBK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604834"> 604834 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/813?start=-3&limit=10&highlight=813"> 12q24.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> {Amyotrophic lateral sclerosis, susceptibility to, 13} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> 183090 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> ATXN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> 601517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/813?start=-3&limit=10&highlight=813"> 12q24.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> Spinocerebellar ataxia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> 183090 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> ATXN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> 601517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/35?start=-3&limit=10&highlight=35"> 14q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611895"> Amyotrophic lateral sclerosis 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611895"> 611895 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105850"> ANG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105850"> 105850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/168?start=-3&limit=10&highlight=168"> 15q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602099"> Amyotrophic lateral sclerosis 5, juvenile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602099"> 602099 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610844"> SPG11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610844"> 610844 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/106?start=-3&limit=10&highlight=106"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619141"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619141"> 619141 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600227"> CCNF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600227"> 600227 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/384?start=-3&limit=10&highlight=384"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608030"> Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608030"> 608030 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137070"> FUS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137070"> 137070 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/430?start=-3&limit=10&highlight=430"> 16q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619132"> ?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619132"> 619132 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605018"> CYLD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605018"> 605018 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/95?start=-3&limit=10&highlight=95"> 17p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614808"> Amyotrophic lateral sclerosis 18 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614808"> 614808 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176610"> PFN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176610"> 176610 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/155?start=-3&limit=10&highlight=155"> 18q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606640"> Amyotrophic lateral sclerosis 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606640"> 606640 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606640"> ALS3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606640"> 606640 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/2?start=-3&limit=10&highlight=2"> 20p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608031"> Amyotrophic lateral sclerosis 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608031"> 608031 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608031"> ALS7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608031"> 608031 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/421?start=-3&limit=10&highlight=421"> 20q13.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608627"> Amyotrophic lateral sclerosis 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608627"> 608627 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605704"> VAPBC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605704"> 605704 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/54?start=-3&limit=10&highlight=54"> 21q22.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> Amyotrophic lateral sclerosis 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> 105400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147450"> SOD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147450"> 147450 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/101?start=-3&limit=10&highlight=101"> 22q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615911"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615911"> 615911 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615903"> CHCHD10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615903"> 615903 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/152?start=-3&limit=10&highlight=152"> 22q12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> {?Amyotrophic lateral sclerosis, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> 105400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162230"> NEFH </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162230"> 162230 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/350?start=-3&limit=10&highlight=350"> Xp11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300857"> Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300857"> 300857 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300264"> UBQLN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300264"> 300264 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
Not Mapped
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/205200"> Amyotrophic lateral sclerosis, juvenile, with dementia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/205200"> 205200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/205200"> ALSDC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/205200"> 205200 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Spinocerebellar ataxia
|
|
- <a href="/phenotypicSeries/PS164400">PS164400</a>
|
|
- 49 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/49?start=-3&limit=10&highlight=49"> 1p36.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607454"> Spinocerebellar ataxia 21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607454"> 607454 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616101"> TMEM240 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616101"> 616101 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/378?start=-3&limit=10&highlight=378"> 1p35.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617931"> Spinocerebellar ataxia 47 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617931"> 617931 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607204"> PUM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607204"> 607204 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/653?start=-3&limit=10&highlight=653"> 1p32.2-p32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615945"> Spinocerebellar ataxia 37 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615945"> 615945 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603448"> DAB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603448"> 603448 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/919?start=-3&limit=10&highlight=919"> 1p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607346"> Spinocerebellar ataxia 19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607346"> 607346 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605411"> KCND3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605411"> 605411 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/269?start=-3&limit=10&highlight=269"> 2p16.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608703"> Spinocerebellar ataxia 25 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608703"> 608703 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610316"> PNPT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610316"> 610316 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/17?start=-3&limit=10&highlight=17"> 3p26.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606658"> Spinocerebellar ataxia 15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606658"> 606658 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147265"> ITPR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147265"> 147265 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/17?start=-3&limit=10&highlight=17"> 3p26.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/117360"> Spinocerebellar ataxia 29, congenital nonprogressive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/117360"> 117360 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147265"> ITPR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147265"> 147265 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/436?start=-3&limit=10&highlight=436"> 3p14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164500"> Spinocerebellar ataxia 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164500"> 164500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607640"> ATXN7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607640"> 607640 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/798?start=-3&limit=10&highlight=798"> 3q25.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617018"> ?Spinocerebellar ataxia 43 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617018"> 617018 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120520"> MME </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120520"> 120520 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/531?start=-3&limit=10&highlight=531"> 4q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616410"> ?Spinocerebellar ataxia 41 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616410"> 616410 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602345"> TRPC3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602345"> 602345 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/691?start=-3&limit=10&highlight=691"> 4q34.3-q35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613371"> ?Spinocerebellar ataxia 30 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613371"> 613371 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613371"> SCA30 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613371"> 613371 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/633?start=-3&limit=10&highlight=633"> 5q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604326"> Spinocerebellar ataxia 12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604326"> 604326 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604325"> PPP2R2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604325"> 604325 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/687?start=-3&limit=10&highlight=687"> 5q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617769"> Spinocerebellar ataxia 45 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617769"> 617769 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604269"> FAT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604269"> 604269 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/90?start=-3&limit=10&highlight=90"> 6p22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164400"> Spinocerebellar ataxia 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164400"> 164400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601556"> ATXN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601556"> 601556 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/600?start=-3&limit=10&highlight=600"> 6p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615957"> Spinocerebellar ataxia 38 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615957"> 615957 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611805"> ELOVL5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611805"> 611805 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/667?start=-3&limit=10&highlight=667"> 6q14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133190"> Spinocerebellar ataxia 34 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133190"> 133190 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605512"> ELOVL4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605512"> 605512 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/928?start=-3&limit=10&highlight=928"> 6q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617691"> Spinocerebellar ataxia 44 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617691"> 617691 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604473"> GRM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604473"> 604473 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/1041?start=-3&limit=10&highlight=1041"> 6q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607136"> Spinocerebellar ataxia 17 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607136"> 607136 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600075"> TBP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600075"> 600075 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/414?start=-3&limit=10&highlight=414"> 7q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619806"> ?Spinocerebellar ataxia 49 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619806"> 619806 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611170"> SAMD9L </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611170"> 611170 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/454?start=-3&limit=10&highlight=454"> 7q22-q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607458"> Spinocerebellar ataxia 18 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607458"> 607458 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607458"> SCA18 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607458"> 607458 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/642?start=-3&limit=10&highlight=642"> 7q32-q33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613909"> Spinocerebellar ataxia 32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613909"> 613909 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613909"> SCA32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613909"> 613909 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/380?start=-3&limit=10&highlight=380"> 11q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608687"> Spinocerebellar ataxia 20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608687"> 608687 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608687"> SCA20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608687"> 608687 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/646?start=-3&limit=10&highlight=646"> 11q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600224"> Spinocerebellar ataxia 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600224"> 600224 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604985"> SPTBN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604985"> 604985 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/813?start=-3&limit=10&highlight=813"> 12q24.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> Spinocerebellar ataxia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> 183090 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> ATXN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> 601517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/813?start=-3&limit=10&highlight=813"> 12q24.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> {Amyotrophic lateral sclerosis, susceptibility to, 13} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> 183090 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> ATXN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> 601517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/204?start=-3&limit=10&highlight=204"> 13q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608768"> Spinocerebellar ataxia 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608768"> 608768 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613289"> ATXN8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613289"> 613289 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/213?start=-3&limit=10&highlight=213"> 13q21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608768"> Spinocerebellar ataxia 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608768"> 608768 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603680"> ATXN8OS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603680"> 603680 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/293?start=-3&limit=10&highlight=293"> 13q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193003"> Spinocerebellar ataxia 27A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193003"> 193003 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601515"> FGF14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601515"> 601515 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/293?start=-3&limit=10&highlight=293"> 13q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620174"> Spinocerebellar ataxia 27B, late-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620174"> 620174 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601515"> FGF14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601515"> 601515 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/460?start=-3&limit=10&highlight=460"> 14q32.11-q32.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616053"> ?Spinocerebellar ataxia 40 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616053"> 616053 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611204"> CCDC88C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611204"> 611204 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/466?start=-3&limit=10&highlight=466"> 14q32.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/109150"> Machado-Joseph disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/109150"> 109150 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607047"> ATXN3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607047"> 607047 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/139?start=-3&limit=10&highlight=139"> 15q15.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604432"> Spinocerebellar ataxia 11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604432"> 604432 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611695"> TTBK2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611695"> 611695 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/37?start=-3&limit=10&highlight=37"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618093"> Spinocerebellar ataxia 48 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618093"> 618093 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607207"> STUB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607207"> 607207 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/510?start=-3&limit=10&highlight=510"> 16q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/117210"> Spinocerebellar ataxia 31 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/117210"> 117210 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612051"> BEAN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612051"> 612051 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/561?start=-3&limit=10&highlight=561"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620947"> Spinocerebellar ataxia 51 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620947"> 620947 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609119"> THAP11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609119"> 609119 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/630?start=-3&limit=10&highlight=630"> 16q22.2-q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600223"> Spinocerebellar ataxia 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600223"> 600223 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104155"> ZFHX3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104155"> 104155 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/747?start=-3&limit=10&highlight=747"> 17q21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616795"> Spinocerebellar ataxia 42 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616795"> 616795 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604065"> CACNA1G </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604065"> 604065 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/1021?start=-3&limit=10&highlight=1021"> 17q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620158"> Spinocerebellar ataxia 50 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620158"> 620158 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602367"> NPTX1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602367"> 602367 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/63?start=-3&limit=10&highlight=63"> 18p11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610246"> Spinocerebellar ataxia 28 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610246"> 610246 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604581"> AFG3L2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604581"> 604581 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/123?start=-3&limit=10&highlight=123"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609306"> ?Spinocerebellar ataxia 26 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609306"> 609306 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130610"> EEF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130610"> 130610 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/355?start=-3&limit=10&highlight=355"> 19p13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183086"> Spinocerebellar ataxia 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183086"> 183086 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601011"> CACNA1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601011"> 601011 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/700?start=-3&limit=10&highlight=700"> 19q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617770"> ?Spinocerebellar ataxia 46 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617770"> 617770 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615698"> PLD3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615698"> 615698 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/978?start=-3&limit=10&highlight=978"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605259"> Spinocerebellar ataxia 13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605259"> 605259 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176264"> KCNC3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176264"> 176264 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/1111?start=-3&limit=10&highlight=1111"> 19q13.42 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605361"> Spinocerebellar ataxia 14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605361"> 605361 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176980"> PRKCG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176980"> 176980 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/29?start=-3&limit=10&highlight=29"> 20p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610245"> Spinocerebellar ataxia 23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610245"> 610245 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131340"> PDYN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/131340"> 131340 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/32?start=-3&limit=10&highlight=32"> 20p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613908"> Spinocerebellar ataxia 35 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613908"> 613908 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613900"> TGM6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613900"> 613900 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/35?start=-3&limit=10&highlight=35"> 20p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614153"> Spinocerebellar ataxia 36 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614153"> 614153 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614154"> NOP56 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614154"> 614154 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/380?start=-3&limit=10&highlight=380"> 22q13.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603516"> Spinocerebellar ataxia 10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603516"> 603516 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611150"> ATXN10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611150"> 611150 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
Not Mapped
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612876"> Spinocerebellar ataxia 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612876"> 612876 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612876"> SCA9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612876"> 612876 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because spinocerebellar ataxia-2 (SCA2) is caused by an expanded (CAG)n trinucleotide repeat in the gene encoding ataxin-2 (ATXN2; <a href="/entry/601517">601517</a>). Unaffected individuals have 13 to 31 CAG repeats, whereas affected individuals have 32 to 79 repeats, with some in the range of 500 repeats (summary by <a href="#1" class="mim-tip-reference" title="Almaguer-Mederos, L. E., Falcon, N. S., Almira, Y. R., Zaldivar, Y. G., Almarales, D. C., Gongora, E. M., Herrera, M. P., Batallan, K. E., Arminan, R. R., Manresa, M. V., Cruz, G. S., Laffita-Mesa, J., Cyuz, T. M., Chang, V., Auburger, G., Gispert, S., Perez, L. V. <strong>Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis.</strong> Clin. Genet. 78: 169-174, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20095980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20095980</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01358.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20095980">Almaguer-Mederos et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20095980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>There is also an association between 29 or more CAG repeats and the development of amyotrophic lateral sclerosis-13 (ALS13). For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (<a href="/entry/105400">105400</a>).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by <a href="#23" class="mim-tip-reference" title="Harding, A. E. <strong>Classification of the hereditary ataxias and paraplegias.</strong> Lancet 321: 1151-1155, 1983. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6133167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6133167</a>] [<a href="https://doi.org/10.1016/s0140-6736(83)92879-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6133167">Harding (1983)</a>. Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (<a href="/entry/164400">164400</a>), SCA2, and SCA3, or Machado-Joseph disease (<a href="/entry/109150">109150</a>). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6133167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (<a href="/entry/164400">164400</a>).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#6" class="mim-tip-reference" title="Boller, F., Segarra, J. M. <strong>Spino-pontine degeneration.</strong> Europ. Neurol. 2: 356-373, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5808476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5808476</a>] [<a href="https://doi.org/10.1159/000113812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5808476">Boller and Segarra (1969)</a> reported the clinical and postmortem findings in a father (E.W.) and son (R.W.) with adult-onset ataxia. The pedigree of the 'W' family, extending through 5 generations, indicated autosomal dominant inheritance. <a href="#39" class="mim-tip-reference" title="Pogacar, S., Ambler, M., Conklin, W. J., O'Neil, W. A., Lee, H. Y. <strong>Dominant spinopontine atrophy: report of two additional members of family W.</strong> Arch. Neurol. 35: 156-162, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/629660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">629660</a>] [<a href="https://doi.org/10.1001/archneur.1978.00500270038008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="629660">Pogacar et al. (1978)</a> reported 2 additional affected members of the family, R.W.'s daughter (S.W.), and a third cousin who was studied postmortem. <a href="#6" class="mim-tip-reference" title="Boller, F., Segarra, J. M. <strong>Spino-pontine degeneration.</strong> Europ. Neurol. 2: 356-373, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5808476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5808476</a>] [<a href="https://doi.org/10.1159/000113812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5808476">Boller and Segarra (1969)</a> had described the condition under the designation 'spinopontine degeneration.' When the family (of Anglo-Saxon extraction living in northern Rhode Island for over 300 years) was followed up by <a href="#39" class="mim-tip-reference" title="Pogacar, S., Ambler, M., Conklin, W. J., O'Neil, W. A., Lee, H. Y. <strong>Dominant spinopontine atrophy: report of two additional members of family W.</strong> Arch. Neurol. 35: 156-162, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/629660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">629660</a>] [<a href="https://doi.org/10.1001/archneur.1978.00500270038008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="629660">Pogacar et al. (1978)</a>, they questioned the separation from olivopontocerebellar ataxia (OPCA), because they found abolished tendon reflexes and flexion contractures of the legs in 1 patient, and onset at 18 years of age, palatal myoclonus, and optic atrophy in the second. Dementia developed in both. Pathologic findings, in contrast to earlier reports, showed involvement of the cerebellum and inferior olivary nuclei. <a href="#31" class="mim-tip-reference" title="Lazzarini, A., Zimmerman, T. R., Jr., Johnson, W. G., Duvoisin, R. C. <strong>A 17th-century founder gives rise to a large North American pedigree of autosomal dominant spinocerebellar ataxia not linked to the SCA1 locus on chromosome 6.</strong> Neurology 42: 2118-2124, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1436521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1436521</a>] [<a href="https://doi.org/10.1212/wnl.42.11.2118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1436521">Lazzarini et al. (1992)</a> encountered a large, previously unreported branch of the 'W' family that shared a common ancestor 8 generations removed from the patients reported by <a href="#6" class="mim-tip-reference" title="Boller, F., Segarra, J. M. <strong>Spino-pontine degeneration.</strong> Europ. Neurol. 2: 356-373, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5808476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5808476</a>] [<a href="https://doi.org/10.1159/000113812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5808476">Boller and Segarra (1969)</a>. Although phenotypically the disorder was similar to that in families with spinocerebellar ataxia-1, the disorder was not linked to HLA on chromosome 6p. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5808476+1436521+629660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#71" class="mim-tip-reference" title="Wadia, N. H., Swami, R. K. <strong>A new form of heredo-familial spino-cerebellar degeneration with slow eye movements (nine families).</strong> Brain 94: 359-374, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5571047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5571047</a>] [<a href="https://doi.org/10.1093/brain/94.2.359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5571047">Wadia and Swami (1971)</a> reported the association of spinocerebellar degeneration and abnormal eye movements, specifically, absent rapid saccades and abnormally slow tracking. They described 37 patients in 12 families in India. Some of the patients were 'mentally backward.' <a href="#58" class="mim-tip-reference" title="Starkman, S., Kaul, S., Fried, J., Behrens, M. <strong>Unusual abnormal eye movements in a family with hereditary spinocerebellar degeneration. (Abstract)</strong> Neurology 22: 402, 1972."None>Starkman et al. (1972)</a> described the syndrome in a U.S. family. <a href="#74" class="mim-tip-reference" title="Whyte, M. P., Dekaban, A. S. <strong>Familial cerebellar degeneration with slow eye-movements, mental deterioration and incidental nevus of Ota (oculo-dermal melanocytosis).</strong> Dev. Med. Child. Neurol. 18: 373-380, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/939351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">939351</a>] [<a href="https://doi.org/10.1111/j.1469-8749.1976.tb03660.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="939351">Whyte and Dekaban (1976)</a> described a family with cerebellar degeneration and slow pursuit without nystagmus. Age at onset ranged from 10 to 31 years with earlier onset in successive generations, and a rapidly progressive course. Three individuals showed progressive mental deterioration. The proband had nevus of Ota, which was considered to be unrelated. <a href="#74" class="mim-tip-reference" title="Whyte, M. P., Dekaban, A. S. <strong>Familial cerebellar degeneration with slow eye-movements, mental deterioration and incidental nevus of Ota (oculo-dermal melanocytosis).</strong> Dev. Med. Child. Neurol. 18: 373-380, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/939351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">939351</a>] [<a href="https://doi.org/10.1111/j.1469-8749.1976.tb03660.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="939351">Whyte and Dekaban (1976)</a> suggested that the eye signs were due to a brainstem lesion of the paramedian pontine reticular formation. They noted that it may be the most frequent form of spinocerebellar degeneration in India. See <a href="/entry/271322">271322</a> for a possible recessive form of the Wadia-Swami syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=939351+5571047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#72" class="mim-tip-reference" title="Wadia, N., Pang, J., Desai, J., Mankodi, A., Desai, M., Chamberlain, S. <strong>A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees: the significance of slow saccades in diagnosis.</strong> Brain 121: 2341-2355, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9874485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9874485</a>] [<a href="https://doi.org/10.1093/brain/121.12.2341" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9874485">Wadia et al. (1998)</a> reported reevaluation and genetic analysis of 6 Indian pedigrees with autosomal dominant spinocerebellar ataxia, some of whom had been reported by <a href="#71" class="mim-tip-reference" title="Wadia, N. H., Swami, R. K. <strong>A new form of heredo-familial spino-cerebellar degeneration with slow eye movements (nine families).</strong> Brain 94: 359-374, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5571047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5571047</a>] [<a href="https://doi.org/10.1093/brain/94.2.359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5571047">Wadia and Swami (1971)</a>. Genetic analysis confirmed SCA2. Saccadic velocity was reduced even in early stages of the disease, and the authors emphasized that it was an important diagnostic feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9874485+5571047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Eto, K., Sumi, S. M., Bird, T. D., McEvoy-Bush, T., Boehnke, M., Schellenberg, G. <strong>Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss: spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family?</strong> Arch. Neurol. 47: 968-974, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2396938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2396938</a>] [<a href="https://doi.org/10.1001/archneur.1990.00530090038011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2396938">Eto et al. (1990)</a> described a family of German extraction with progressive ataxia, eye movement abnormalities, peripheral sensory loss, and spinal muscular atrophy of adult onset. The pedigree pattern in 4 generations was consistent with autosomal dominant inheritance. <a href="#14" class="mim-tip-reference" title="Eto, K., Sumi, S. M., Bird, T. D., McEvoy-Bush, T., Boehnke, M., Schellenberg, G. <strong>Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss: spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family?</strong> Arch. Neurol. 47: 968-974, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2396938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2396938</a>] [<a href="https://doi.org/10.1001/archneur.1990.00530090038011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2396938">Eto et al. (1990)</a> suggested that the form of spinopontine atrophy might be different from Machado-Joseph disease (SCA3): the eyes were not protuberant, extraocular movements were abnormal to a minor degree, and neuropathologically the substantia nigra and dentate nucleus were spared. <a href="#14" class="mim-tip-reference" title="Eto, K., Sumi, S. M., Bird, T. D., McEvoy-Bush, T., Boehnke, M., Schellenberg, G. <strong>Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss: spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family?</strong> Arch. Neurol. 47: 968-974, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2396938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2396938</a>] [<a href="https://doi.org/10.1001/archneur.1990.00530090038011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2396938">Eto et al. (1990)</a> considered their family to resemble most that reported by <a href="#6" class="mim-tip-reference" title="Boller, F., Segarra, J. M. <strong>Spino-pontine degeneration.</strong> Europ. Neurol. 2: 356-373, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5808476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5808476</a>] [<a href="https://doi.org/10.1159/000113812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5808476">Boller and Segarra (1969)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2396938+5808476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bale, A. E., Bale, S. J., Schlesinger, S. L., McFarland, H. F. <strong>Linkage analysis in spinopontine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia.</strong> Am. J. Med. Genet. 27: 595-602, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477098</a>] [<a href="https://doi.org/10.1002/ajmg.1320270312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3477098">Bale et al. (1987)</a> studied a 3-generation kindred in which several persons had dominantly inherited spinopontine atrophy. Linkage analysis gave negative lod scores with both HLA and GLO1. <a href="#4" class="mim-tip-reference" title="Bale, A. E., Bale, S. J., Schlesinger, S. L., McFarland, H. F. <strong>Linkage analysis in spinopontine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia.</strong> Am. J. Med. Genet. 27: 595-602, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477098</a>] [<a href="https://doi.org/10.1002/ajmg.1320270312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3477098">Bale et al. (1987)</a> also reviewed 4 published kindreds with adequate clinical and neuropathologic descriptions in addition to HLA linkage studies. Persons in the 3 families showing evidence for HLA linkage had clinical and pathologic changes consistent with OPCA type 1. The conditions in the 2 'unlinked' families were phenotypically distinct with respect to extraocular movements and peripheral sensory nervous system signs. They differed markedly from each other in neuropathologic changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3477098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Auburger, G., Diaz, G. O., Capote, R. F., Sanchez, S. G., Perez, M. P., Estrada del Cueto, M., Meneses, M. G., Farrall, M., Williamson, R., Chamberlain, S., Baute, L. H. <strong>Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population.</strong> Am. J. Hum. Genet. 46: 1163-1177, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971152</a>]" pmid="1971152">Auburger et al. (1990)</a> could find no evidence of linkage to HLA in over 100 affected members of a Cuban kindred of Spanish ancestry, first reported by <a href="#37" class="mim-tip-reference" title="Orozco, G., Estrada, R., Perry, T. L., Arana, J., Fernandez, R., Gonzalez-Quevedo, A., Galarraga, J., Hansen, S. <strong>Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings.</strong> J. Neurol. Sci. 93: 37-50, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2809629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2809629</a>] [<a href="https://doi.org/10.1016/0022-510x(89)90159-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2809629">Orozco et al. (1989)</a>. The diagnosis of spinocerebellar ataxia was confirmed at autopsy in 11 cases. Points of differentiation from Machado-Joseph disease (SCA3), including absence of the limitation of upward gaze, were outlined. The origins of the family group in Spain could not be traced. Age of onset varied from 2 to 65 years, with 40% of patients presenting before 25 years of age. Optic atrophy, retinopathy, dementia, spasticity, and rigidity were not part of the phenotype. <a href="#2" class="mim-tip-reference" title="Auburger, G., Diaz, G. O., Capote, R. F., Sanchez, S. G., Perez, M. P., Estrada del Cueto, M., Meneses, M. G., Farrall, M., Williamson, R., Chamberlain, S., Baute, L. H. <strong>Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population.</strong> Am. J. Hum. Genet. 46: 1163-1177, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971152</a>]" pmid="1971152">Auburger et al. (1990)</a> stated that 'the 300 patients already receiving medical attention constitute a severe problem for the regional health authorities in Holguin.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1971152+2809629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#57" class="mim-tip-reference" title="Spadaro, M., Giunti, P., Lulli, P., Frontali, M., Jodice, C., Cappellacci, S., Morellini, M., Persichetti, F., Trabace, S., Anastasi, R., Morocutti, C. <strong>HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds.</strong> Acta Neurol. Scand. 85: 257-265, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1585797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1585797</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1992.tb04041.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1585797">Spadaro et al. (1992)</a> were unable to demonstrate linkage to HLA on chromosome 6 in 3 of 5 Italian families with late-onset autosomal dominant SCA. They reported clinical studies of 26 patients and neuropathologic study of 1. The disease was characterized by cerebellar and pyramidal involvement, variably associated with cranial nerve and peripheral nervous system disorders. MRI of a 53-year-old man with symptoms for 7 years showed marked atrophy of the cerebellar hemispheres and vermis as well as of the pons and medulla oblongata. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1585797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#64" class="mim-tip-reference" title="Ueyama, H., Kumamoto, T., Nagao, S., Mita, S., Uchino, M., Tsuda, T. <strong>Clinical and genetic studies of spinocerebellar ataxia type 2 in Japanese kindreds.</strong> Acta Neurol. Scand. 98: 427-432, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9875622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9875622</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1998.tb07325.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9875622">Ueyama et al. (1998)</a> studied 2 Japanese kindreds with spinocerebellar ataxia-2, for a total of 25 patients, 19 patients in 1 family and 6 patients in the other. Thirteen patients were fully evaluated, including a neurologic evaluation. The mean age of onset of symptoms was 43.5 years. The most common neurologic finding was cerebellar ataxia with deep sensory disturbance. Slow saccades were found only in patients younger than age 35 years. Brain MRI showed pontocerebellar atrophy, and PCR analysis showed that all patients had an expanded CAG allele in the ataxin-2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9875622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Schols, L., Amoiridis, G., Buttner, T., Przuntek, H., Epplen, J. T., Riess, O. <strong>Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?</strong> Ann. Neurol. 42: 924-932, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9403486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9403486</a>] [<a href="https://doi.org/10.1002/ana.410420615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9403486">Schols et al. (1997)</a> compared clinical, electrophysiologic, and MRI findings to identify phenotypic characteristics of genetically defined SCA subtypes. Slow saccades, hyporeflexia, myoclonus, and action tremor suggested SCA2. SCA3 patients frequently developed diplopia, severe spasticity or pronounced peripheral neuropathy, and impaired temperature discrimination, apart from ataxia. SCA6 (<a href="/entry/183086">183086</a>) presented with a predominantly cerebellar syndrome, and patients often had onset after 55 years of age. SCA1 was characterized by markedly prolonged peripheral and central motor conduction times in motor evoked potentials. MRI scans showed pontine and cerebellar atrophy in SCA1 and SCA2. In SCA3, enlargement of the fourth ventricle was the main sequel of atrophy. SCA6 presented with pure cerebellar atrophy on MRI. Overlap between the 4 SCA subtypes was broad, however. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9403486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Giuffrida, S., Saponara, R., Restivo, D. A., Salinaro, A. T., Tomarchio, L., Pugliares, P., Fabbri, G., Maccagnano, C. <strong>Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients.</strong> J. Neurol. 246: 383-388, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10399871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10399871</a>] [<a href="https://doi.org/10.1007/s004150050368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10399871">Giuffrida et al. (1999)</a> performed brain MRI on 20 SCA2 patients, from 11 Sicilian families, and 20 age-matched control subjects. The findings confirmed that olivopontocerebellar atrophy is a typical pattern in SCA2. No significant correlation was found between infratentorial atrophy, disease duration, or the number of CAG repeats, but there was a significant correlation between supratentorial atrophy, which was found in 12 patients, and disease duration. OPCA appeared to represent the 'core' abnormality of SCA2; however, central nervous system involvement was not limited to pontocerebellar structures. <a href="#19" class="mim-tip-reference" title="Giuffrida, S., Saponara, R., Restivo, D. A., Salinaro, A. T., Tomarchio, L., Pugliares, P., Fabbri, G., Maccagnano, C. <strong>Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients.</strong> J. Neurol. 246: 383-388, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10399871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10399871</a>] [<a href="https://doi.org/10.1007/s004150050368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10399871">Giuffrida et al. (1999)</a> concluded that central nervous system degeneration in SCA2 is a widespread atrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10399871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 19 of 27 (70%) patients with confirmed SCA types 1, 2, 3, 6, or 7 (<a href="/entry/164500">164500</a>), <a href="#67" class="mim-tip-reference" title="van de Warrenburg, B. P. C., Notermans, N. C., Schelhaas, H. J., van Alfen, N., Sinke, R. J., Knoers, N. V. A. M., Zwarts, M. J., Kremer, B. P. H. <strong>Peripheral nerve involvement in spinocerebellar ataxias.</strong> Arch. Neurol. 61: 257-261, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14967775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14967775</a>] [<a href="https://doi.org/10.1001/archneur.61.2.257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14967775">van de Warrenburg et al. (2004)</a> found electrophysiologic evidence of peripheral nerve involvement. Eight patients (30%) had findings compatible with a dying-back axonopathy, whereas 11 patients (40%) had findings consistent with a primary neuronopathy involving dorsal root ganglion and/or anterior horn cells; the 2 types were clinically almost indistinguishable. All 3 patients with SCA2 had a neuronopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14967775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#68" class="mim-tip-reference" title="Velazquez-Perez, L., Seifried, C., Santos-Falcon, N., Abele, M., Ziemann, U., Almaguer, L. E., Martinez-Gongora, E., Sanchez-Cruz, G., Canales, N., Perez-Gonzalez, R., Velazquez-Manresa, M., Viebahn, B., von Stuckrad-Barre, S., Fetter, M., Klockgether, T., Auburger, G. <strong>Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.</strong> Ann. Neurol. 56: 444-447, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15349876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15349876</a>] [<a href="https://doi.org/10.1002/ana.20220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15349876">Velazquez-Perez et al. (2004)</a> found that maximal horizontal saccade velocity (MSV) was significantly decreased in 82 SCA2 patients compared to controls (60-degree MSV range of 17 to 464 degrees per second and 277 to 678 degree per second, respectively). MSV was negatively correlated with polyglutamine expansion size and ataxia score; ataxia score was positively correlated with disease duration, and less so with polyglutamine expansion. Slowing of MSV was detected as early as 1 year after onset of ataxia. <a href="#68" class="mim-tip-reference" title="Velazquez-Perez, L., Seifried, C., Santos-Falcon, N., Abele, M., Ziemann, U., Almaguer, L. E., Martinez-Gongora, E., Sanchez-Cruz, G., Canales, N., Perez-Gonzalez, R., Velazquez-Manresa, M., Viebahn, B., von Stuckrad-Barre, S., Fetter, M., Klockgether, T., Auburger, G. <strong>Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.</strong> Ann. Neurol. 56: 444-447, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15349876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15349876</a>] [<a href="https://doi.org/10.1002/ana.20220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15349876">Velazquez-Perez et al. (2004)</a> concluded that MSV is a sensitive and specific endophenotype useful for the identification of modifier genes in SCA2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15349876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using high-resolution volumetric MRI to examine 8 SCA2 patients, <a href="#75" class="mim-tip-reference" title="Ying, S. H., Choi, S. I., Perlman, S. L., Baloh, R. W., Zee, D. S., Toga, A. W. <strong>Pontine and cerebellar atrophy correlate with clinical disability in SCA2.</strong> Neurology 66: 424-426, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16476946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16476946</a>] [<a href="https://doi.org/10.1212/01.wnl.0000196464.47508.00" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16476946">Ying et al. (2006)</a> found a significant correlation between region-specific cerebellar and pontine atrophy and a global measure of clinical dysfunction. Atrophy was also highly correlated with disease duration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16476946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#70" class="mim-tip-reference" title="Vogel, A. P., Magee, M., Torres-Vega, R., Medrano-Montero, J., Cyngler, M. P., Kruse, M., Rojas, S., Cubillos, S. C., Canento, T., Maldonado, F., Vazquez-Mojena, Y., Ilg, W., Rodriguez-Labrada, R., Velazquez-Perez, L., Synofzik, M. <strong>Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2.</strong> Neurology 95: e194-e205, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32527970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32527970</a>] [<a href="https://doi.org/10.1212/WNL.0000000000009776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32527970">Vogel et al. (2020)</a> performed a comprehensive study of speech and swallowing function in 30 individuals with SCA2 (16 who were pre-ataxic and 14 with early-stage ataxia) compared to 16 healthy controls. Changes in speech were identified in pre-ataxic patients, with a subtle speech phenotype characterized by an absence of overt dysarthria, but distinct changes in speech timing with reduced rate and consistency of production during syllable repetition tasks. These results show that patients manifest early changes in motor function that precede ataxia symptoms, likely due to early cerebellar dysfunction. In patients with early-phase ataxia, speech was dysarthric with short phrases, irregular articulatory breakdowns, and reduced speech agility and speech rate, resulting in decreased intelligibility. Reduced speech agility and speech rate correlated with disease severity and time to ataxia onset. Dysphagia was seen in both categories of patients (pre-ataxic and early ataxic), with more than half of pre-ataxic patients having moderate swallowing impairment and 37% of ataxic patients having signs of moderate to severe dysphagia. However, no association was seen between ataxia severity and degree of dysphagia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32527970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Oculomotor Abnormalities</em></strong></p><p>
|
|
Among 65 patients with SCA1, SCA2, or SCA3, <a href="#7" class="mim-tip-reference" title="Burk, K., Abele, M., Fetter, M., Dichgans, J., Skalej, M., Laccone, F., Didierjean, O., Brice, A., Klockgether, T. <strong>Autosomal dominant cerebellar ataxia type I: clinical features and MRI in families with SCA1, SCA2 and SCA3.</strong> Brain 119: 1497-1505, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8931575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8931575</a>] [<a href="https://doi.org/10.1093/brain/119.5.1497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8931575">Burk et al. (1996)</a> found reduced saccade velocity in 56%, 100%, and 30% of patients, respectively. MRI showed severe olivopontocerebellar atrophy in SCA2, similar but milder changes in SCA1, and very mild atrophy with sparing of the olives in SCA3. Careful examination of 3 major criteria of eye movements, saccade amplitude, saccade velocity, and presence of gaze-evoked nystagmus, permitted <a href="#45" class="mim-tip-reference" title="Rivaud-Pechoux, S., Durr, A., Gaymard, B., Cancel, G., Ploner, C. J., Agid, Y., Brice, A., Pierrot-Deseilligny, C. <strong>Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.</strong> Ann. Neurol. 43: 297-302, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9506545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9506545</a>] [<a href="https://doi.org/10.1002/ana.410430306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9506545">Rivaud-Pechoux et al. (1998)</a> to assign over 90% of patients with SCA1, SCA2, or SCA3 to their genetically confirmed patient group. In SCA1, saccade amplitude was significantly increased, resulting in hypermetria. In SCA2, saccade velocity was markedly decreased. In SCA3, the most characteristic finding was the presence of gaze-evoked nystagmus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8931575+9506545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an investigation of oculomotor function, <a href="#9" class="mim-tip-reference" title="Buttner, N., Geschwind, D., Jen, J. C., Perlman, S., Pulst, S. M., Baloh, R. W. <strong>Oculomotor phenotypes in autosomal dominant ataxias.</strong> Arch. Neurol. 55: 1353-1357, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9779665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9779665</a>] [<a href="https://doi.org/10.1001/archneur.55.10.1353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9779665">Buttner et al. (1998)</a> found that all 3 patients with SCA1, all 7 patients with SCA3, and all 5 patients with SCA6 had gaze-evoked nystagmus. Three of 5 patients with SCA2 did not have gaze-evoked nystagmus, perhaps because they could not generate corrective fast components. Rebound nystagmus occurred in all SCA3 patients, 33% of SCA1 patients, 40% of SCA6 patients, and none of SCA2. Spontaneous downbeat nystagmus only occurred in SCA6. Peak saccade velocity was decreased in 100% of patients with SCA2, 1 patient with SCA1, and no patients with SCA3 or SCA6. Saccade hypermetria was found in all types, but was most common in SCA3. <a href="#8" class="mim-tip-reference" title="Burk, K., Fetter, M., Abele, M., Laccone, F., Brice, A., Dichgans, J., Klockgether, T. <strong>Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.</strong> J. Neurol. 246: 789-797, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10525976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10525976</a>] [<a href="https://doi.org/10.1007/s004150050456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10525976">Burk et al. (1999)</a> found that gaze-evoked nystagmus was not associated with SCA2. However, severe saccade slowing was highly characteristic of SCA2. Saccade velocity in SCA3 was normal to mildly reduced. The gain in vestibuloocular reflex was significantly impaired in SCA3 and SCA1. Eye movement disorders of SCA1 overlapped with both SCA2 and SCA3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9779665+10525976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The reticulotegmental nucleus of the pons (RTTG), also known as the nucleus of Bechterew, is a precerebellar nucleus important in the premotor oculomotor circuits crucial for the accuracy of horizontal saccades and the generation of horizontal smooth pursuit. By postmortem examination, <a href="#47" class="mim-tip-reference" title="Rub, U., Burk, K., Schols, L., Brunt, E. R., de Vos, R. A. I., Orozco Diaz, G., Gierga, K., Ghebremedhin, E., Schultz, C., Del Turco, D., Mittelbronn, M., Auburger, G., Deller, T., Braak, H. <strong>Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3.</strong> Neurology 63: 1258-1263, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15477548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15477548</a>] [<a href="https://doi.org/10.1212/01.wnl.0000140498.24112.8c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15477548">Rub et al. (2004)</a> identified neuronal loss and astrogliosis in the RTTG in 1 of 2 SCA1 patients, 2 of 4 SCA2 patients, and 4 of 4 SCA3 patients that correlated with clinical findings of hypometric saccades and slowed and saccadic smooth pursuits. The 3 patients without these specific oculomotor findings had intact RTTG regions. The authors concluded that the neurodegeneration associated with SCA1, SCA2, and SCA3 affects premotor networks in addition to motor nuclei in a subset of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15477548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Infantile Onset</em></strong></p><p>
|
|
<a href="#3" class="mim-tip-reference" title="Babovic-Vuksanovic, D., Snow, K., Patterson, M. C., Michels, V. V. <strong>Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.</strong> Am. J. Med. Genet. 79: 383-387, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9779806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9779806</a>]" pmid="9779806">Babovic-Vuksanovic et al. (1998)</a> reported an infant who presented with neonatal hypotonia, developmental delay, and dysphagia. Ocular findings of retinitis pigmentosa (RP) were noted at 10 months of age. Her father had mild SCA2 first noted at 22 years of age. Molecular studies showed that the father had a SCA2 CAG repeat expansion of 43 repeats, whereas the baby had an extreme expansion of more than 200 repeats. <a href="#3" class="mim-tip-reference" title="Babovic-Vuksanovic, D., Snow, K., Patterson, M. C., Michels, V. V. <strong>Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.</strong> Am. J. Med. Genet. 79: 383-387, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9779806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9779806</a>]" pmid="9779806">Babovic-Vuksanovic et al. (1998)</a> noted the variable phenotype and genotype of SCA2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9779806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Moretti, P., Blazo, M., Garcia, L., Armstrong, D., Lewis, R. A., Roa, B., Scaglia, F. <strong>Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.</strong> Am. J. Med. Genet. 124A: 392-396, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14735588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14735588</a>] [<a href="https://doi.org/10.1002/ajmg.a.20428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14735588">Moretti et al. (2004)</a> reported a Mexican-American child who developed abnormal eye movements at 2 months of age. Motor and language development were delayed. At age 6 years, poor coordination, arm tremor, and cognitive deficits were noted. The clinical course slowly progressed, and he had difficulty walking, incontinence, drooling, and worsening tremor by age 9 years. MRI showed cerebellar atrophy and mild cerebral atrophy, and mutation analysis identified a 62 CAG repeat expansion of the ATXN2 gene. <a href="#35" class="mim-tip-reference" title="Moretti, P., Blazo, M., Garcia, L., Armstrong, D., Lewis, R. A., Roa, B., Scaglia, F. <strong>Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.</strong> Am. J. Med. Genet. 124A: 392-396, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14735588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14735588</a>] [<a href="https://doi.org/10.1002/ajmg.a.20428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14735588">Moretti et al. (2004)</a> emphasized that SCA2 can have rare infantile or childhood onset, that earlier onset is associated with a higher number of CAG repeats, and that the SCA2 phenotype is clinically heterogeneous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14735588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#69" class="mim-tip-reference" title="Vinther-Jensen, T., Ek, J., Duno, M., Skovby, F., Hjermind, L. E., Nielsen, J. E., Nielsen, T. T. <strong>Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.</strong> Europ. J. Hum. Genet. 21: 626-629, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047744</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047744[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23047744">Vinther-Jensen et al. (2013)</a> reported a family in which a father was diagnosed with SCA2 at age 49 years, after which it was discovered that his daughter, who had died 13 years earlier of multiorgan failure at age 19 months, had had infantile-onset SCA2. The father presented with classic adult-onset progressive SCA2, including gait ataxia, imbalance, dysarthria, fasciculations, abnormal saccades, and mild cognitive impairment. Brain MRI showed cerebellar atrophy. The daughter presented at age 3 months with delayed motor development, myoclonic jerks, and visual impairment. She later showed uncoordinated eye movements, pallor of the optic nerves, dystrophic retinas, poor head control, hypotonia, and dyskinetic movements. Molecular genetic analysis showed that the father carried an expanded ATXN2 allele of 45 CAG repeats, and the daughter carried an expanded allele of 124 repeats inherited from the father. Analysis of the father's spermatozoa showed that 4 (22%) had an expansion beyond the 45 CAG repeats detected in somatic cells, including 2 with repeat lengths of at least 92 and 116, respectively. Study of spermatozoa from another man with SCA2 showed similar meiotic instability of the expanded repeat allele. <a href="#69" class="mim-tip-reference" title="Vinther-Jensen, T., Ek, J., Duno, M., Skovby, F., Hjermind, L. E., Nielsen, J. E., Nielsen, T. T. <strong>Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.</strong> Europ. J. Hum. Genet. 21: 626-629, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047744</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047744[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2012.231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23047744">Vinther-Jensen et al. (2013)</a> suggested that meiotic instability may be a general feature of SCA2, and noted that rare genetic disorders should be considered during diagnosis of infants and children even without a family history of a neurodegenerative disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23047744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Parkinsonian Phenotype</em></strong></p><p>
|
|
<a href="#21" class="mim-tip-reference" title="Gwinn-Hardy, K., Chen, J. Y., Liu, H.-C., Liu, T. Y., Boss, M., Seltzer, W., Adam, A., Singleton, A., Koroshetz, W., Waters, C., Hardy, J., Farrer, M. <strong>Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.</strong> Neurology 55: 800-805, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10993999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10993999</a>] [<a href="https://doi.org/10.1212/wnl.55.6.800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10993999">Gwinn-Hardy et al. (2000)</a> described 4 patients from a Chinese kindred with parkinsonian features and CAG expansions at the SCA2 locus. The youngest patient had findings typical for the SCA2 ataxic phenotype with decreased saccadic velocity, limb and truncal ataxia, and a subclinical sensory neuropathy, but also had parkinsonian features such as markedly reduced blink rate, bradykinesia, and asymmetry. His SCA2 CAG repeat length was 43. Three patients from earlier generations had mildly elevated CAG repeat lengths of 33 to 36 with varying phenotypes, but all predominantly parkinsonian features, including masked facies, diminished blink rate, and bradykinesia in addition to mild cerebellar findings such as broad-based gait. Two benefited from carbidopa-levodopa therapy, reminiscent of typical late-onset Parkinson disease (PD; <a href="/entry/168600">168600</a>). The third patient, with a phenotype reminiscent of progressive supranuclear palsy, did not show a response to treatment. None of the patients had cognitive disturbance or resting tremor. The authors suggested that some cases of familial parkinsonism may be due to SCA2 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10993999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 23 Chinese patients with familial parkinsonism, <a href="#52" class="mim-tip-reference" title="Shan, D.-E., Soong, B.-W., Sun, C.-M., Lee, S.-J., Liao, K.-K., Liu, R.-S. <strong>Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism.</strong> Ann. Neurol. 50: 812-815, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761482</a>] [<a href="https://doi.org/10.1002/ana.10055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761482">Shan et al. (2001)</a> identified 2 patients who had expanded trinucleotide repeats (mildly elevated at 36 and 37 repeats) in the ATXN2 gene. Both patients had onset of leg tremor at age 50 years, followed by gait difficulty, rigidity, and slow, hypometric saccades. L-DOPA produced marked improvement in symptoms in both patients. In addition, PET scan showed reduced dopamine distribution in the caudate and putamen in both patients. <a href="#52" class="mim-tip-reference" title="Shan, D.-E., Soong, B.-W., Sun, C.-M., Lee, S.-J., Liao, K.-K., Liu, R.-S. <strong>Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism.</strong> Ann. Neurol. 50: 812-815, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761482</a>] [<a href="https://doi.org/10.1002/ana.10055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761482">Shan et al. (2001)</a> noted that these 2 patients represented approximately one-tenth of their population with familial parkinsonism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11761482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In commenting on the paper by <a href="#52" class="mim-tip-reference" title="Shan, D.-E., Soong, B.-W., Sun, C.-M., Lee, S.-J., Liao, K.-K., Liu, R.-S. <strong>Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism.</strong> Ann. Neurol. 50: 812-815, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761482</a>] [<a href="https://doi.org/10.1002/ana.10055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761482">Shan et al. (2001)</a>, <a href="#28" class="mim-tip-reference" title="Kock, N., Muller, B., Vieregge, P., Pramstaller, P. P., Marder, K., Abbruzzese, G., Martinelli, P., Lang, A. E., Jacobs, H., Hagenah, J., Harris, J., Meija-Santana, H., and 9 others. <strong>Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism. (Letter)</strong> Ann. Neurol. 52: 257-258, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210804</a>] [<a href="https://doi.org/10.1002/ana.10270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12210804">Kock et al. (2002)</a> stated that in a study of 270 unrelated patients of mixed ethnic background with dopa-responsive parkinsonism, including 64 cases of early onset (age of onset less than 50 years) with a family history, 174 cases of early onset with no family history, and 32 cases of late onset with a family history, they found no expanded SCA2 alleles. Parkin (PARK2; <a href="/entry/602544">602544</a>) mutations were found in 31 (18%) of 173 screened early-onset patients. In a reply, <a href="#53" class="mim-tip-reference" title="Shan, D.-E., Soong, B.-W. <strong>Reply to letter of Kock et al. (Letter)</strong> Ann. Neurol. 52: 258 only, 2002."None>Shan and Soong (2002)</a> suggested that SCA2-related parkinsonism is more likely to be found in late-onset cases, which tend to have lower numbers of repeats, and likely accounts for no more than one-tenth of familial parkinsonism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11761482+12210804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Furtado, S., Farrer, M., Tsuboi, Y., Klimek, M. L., de la Fuente-Fernandez, R., Hussey, J., Lockhart, P., Calne, D. B., Suchowersky, O., Stoessl, A. J., Wszolek, Z. K. <strong>SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.</strong> Neurology 59: 1625-1627, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12451209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12451209</a>] [<a href="https://doi.org/10.1212/01.wnl.0000035625.19871.dc" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12451209">Furtado et al. (2002)</a> reported a family in which 10 members over 5 generations were affected with dopa-responsive parkinsonism, without cerebellar abnormalities, transmitted in an autosomal dominant pattern. Average age of onset was 59 years (range, 31 to 86). Three patients exhibited dystonia. Genetic analysis showed identical expanded repeats for SCA2 in all affected individuals tested (22 and 39 repeats on each allele), which were stable between generations despite a clinical suggestion of anticipation. <a href="#15" class="mim-tip-reference" title="Furtado, S., Farrer, M., Tsuboi, Y., Klimek, M. L., de la Fuente-Fernandez, R., Hussey, J., Lockhart, P., Calne, D. B., Suchowersky, O., Stoessl, A. J., Wszolek, Z. K. <strong>SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.</strong> Neurology 59: 1625-1627, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12451209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12451209</a>] [<a href="https://doi.org/10.1212/01.wnl.0000035625.19871.dc" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12451209">Furtado et al. (2002)</a> emphasized that the genetic findings were unexpected because the family's presentation was consistent with typical cases of Parkinson disease (<a href="/entry/168600">168600</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12451209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Lu, C.-S., Wu Chou, Y.-H., Kuo, P.-C., Chang, H.-C., Weng, Y.-H. <strong>The parkinsonian phenotype of spinocerebellar ataxia type 2.</strong> Arch. Neurol. 61: 35-38, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14732617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14732617</a>] [<a href="https://doi.org/10.1001/archneur.61.1.35" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14732617">Lu et al. (2004)</a> stated that the normal range of SCA2 CAG repeats is 14 to 31, and that it ranges from 34 to more than 200 in affected patients. A range of 32 to 33 repeats is considered indeterminate. In 7 Taiwanese patients from 4 families with parkinsonism (representing approximately 10% of the initial group), <a href="#34" class="mim-tip-reference" title="Lu, C.-S., Wu Chou, Y.-H., Kuo, P.-C., Chang, H.-C., Weng, Y.-H. <strong>The parkinsonian phenotype of spinocerebellar ataxia type 2.</strong> Arch. Neurol. 61: 35-38, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14732617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14732617</a>] [<a href="https://doi.org/10.1001/archneur.61.1.35" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14732617">Lu et al. (2004)</a> found expanded CAG repeats in the ATXN2 gene. The phenotype was characterized by tremor, rigidity, and bradykinesia, and response to L-DOPA. A control group of 8 patients from 6 families had the ataxic SCA2 phenotype, characterized by cerebellar gait, slow saccades, ataxic dysarthria, hypotonia, and tendency to fall, without any parkinsonian features. Patients with the parkinsonism phenotype had an older mean age at onset (45.8 years) and shorter CAG repeats (36.2 repeats) compared to those with the ataxic phenotype (26.9 years) caused by SCA2 repeats (43.1 repeats). <a href="#34" class="mim-tip-reference" title="Lu, C.-S., Wu Chou, Y.-H., Kuo, P.-C., Chang, H.-C., Weng, Y.-H. <strong>The parkinsonian phenotype of spinocerebellar ataxia type 2.</strong> Arch. Neurol. 61: 35-38, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14732617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14732617</a>] [<a href="https://doi.org/10.1001/archneur.61.1.35" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14732617">Lu et al. (2004)</a> noted that there were a few overlapping features between the 2 groups, including dysarthria and postural instability, but emphasized the otherwise clear phenotypic distinction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14732617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Ragothaman, M., Sarangmath, N., Chaudhary, S., Khare, V., Mittal, U., Sharma, S., Komatireddy, S., Chakrabarti, S., Mukerji, M., Juyal, R. C., Thelma, B. K., Muthane, U. B. <strong>Complex phenotypes in an Indian family with homozygous SCA2 mutations.</strong> Ann. Neurol. 55: 130-133, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14705123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14705123</a>] [<a href="https://doi.org/10.1002/ana.10815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14705123">Ragothaman et al. (2004)</a> reported a consanguineous Indian family with SCA2 expansions and a complex phenotype comprising ataxia, parkinsonism, and retinitis pigmentosa, either in isolation or in combination. Two patients with homozygous SCA2 repeat expansions (35 to 39 repeats) presented with dopa-responsive parkinsonism, including tremor, rigidity, and bradykinesia. Age at onset was 15 and 22 years. Twelve other family members who were heterozygous for SCA2 repeat expansions had isolated late-onset parkinsonism (2 patients), late-onset parkinsonism and ataxia (1 patient), isolated ataxia (6 patients), ataxia and RP (2 patients), and isolated RP (1 patient). Approximately 38% of family members with expanded SCA2 repeats were asymptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14705123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Charles, P., Camuzat, A., Benammar, N., Sellal, F., Destee, A., Bonnet, A.-M., Lesage, S., Le Ber, I., Stevanin, G., Durr, A., Brice, A., French Parkinson's Disease Genetic Study Group. <strong>Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?</strong> Neurology 69: 1970-1975, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17568014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17568014</a>] [<a href="https://doi.org/10.1212/01.wnl.0000269323.21969.db" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17568014">Charles et al. (2007)</a> found that 3 (2%) of 164 French families with autosomal dominant parkinsonism had SCA2 expansions ranging in size from 37 to 39 repeats that were interrupted by CAA triplets. These interrupted expansions were stable in transmission. All 9 patients had levodopa-responsive parkinsonism without cerebellar signs and had less rigidity and more symmetric signs compared to patients with other causes of PD. Two sisters with both the SCA2 expansion and the LRRK2 mutation G2019S (<a href="/entry/609007#0006">609007.0006</a>) had earlier onset that their mother who had only the SCA2 expansion, suggesting an additive pathogenic effect in the sisters. As a phenotypic comparison, 53 SCA2 patients with similar-sized, uninterrupted SCA2 repeats showed predominant cerebellar ataxia with rare signs of parkinsonism. The findings suggested that the configuration of SCA2 repeat expansions plays an important role in phenotypic variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17568014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="otherFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimOtherFeaturesFold" id="mimOtherFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimOtherFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Other Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimOtherFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>By polysomnography of 8 patients from 5 families with SCA2, <a href="#63" class="mim-tip-reference" title="Tuin, I., Voss, U., Kang, J.-S., Kessler, K., Rub, U., Nolte, D., Lochmuller, H., Tinschert, S., Claus, D., Krakow, K., Pflug, B., Steinmetz, H., Auburger, G. <strong>Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2).</strong> Neurology 67: 1966-1972, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17159102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17159102</a>] [<a href="https://doi.org/10.1212/01.wnl.0000247054.90322.14" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17159102">Tuin et al. (2006)</a> observed evidence of REM sleep behavior disorder. Patient age ranged from 14 to 55 years; disease duration ranged from 3 to 31 years. Clinically, almost all patients reported good subjective sleep quality. Four patients with early disease stage showed REM without atonia accompanied by a consistent reduction of REM density. Three patients with later stage disease had undetectable REM sleep, whereas slow wave sleep was increased at the cost of light sleep. In addition, patients showed a progressive loss of dream recall that correlated with stages of REM and theoretically corresponded to progressive brain atrophy from the pons, nigrostriatal projection, and locus ceruleus to the thalamus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17159102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>There is a wide range in the age at onset of SCA2, both between and within families, and several studies have shown a strong inverse correlation between the size of the (CAG)n repeat and the age of onset of SCA2 symptoms (<a href="#49" class="mim-tip-reference" title="Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., Koide, R., Saito, M., and 13 others. <strong>Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.</strong> Nature Genet. 14: 277-284, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896556</a>] [<a href="https://doi.org/10.1038/ng1196-277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896556">Sanpei et al., 1996</a>; <a href="#27" class="mim-tip-reference" title="Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.-M., Weber, C., Mandel, J.-L., Cancel, G., Abbas, N., Durr, A., Didierjean, O., Stevanin, G., Agid, Y., Brice, A. <strong>Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.</strong> Nature Genet. 14: 285-291, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896557</a>] [<a href="https://doi.org/10.1038/ng1196-285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896557">Imbert et al., 1996</a>). <a href="#1" class="mim-tip-reference" title="Almaguer-Mederos, L. E., Falcon, N. S., Almira, Y. R., Zaldivar, Y. G., Almarales, D. C., Gongora, E. M., Herrera, M. P., Batallan, K. E., Arminan, R. R., Manresa, M. V., Cruz, G. S., Laffita-Mesa, J., Cyuz, T. M., Chang, V., Auburger, G., Gispert, S., Perez, L. V. <strong>Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis.</strong> Clin. Genet. 78: 169-174, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20095980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20095980</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01358.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20095980">Almaguer-Mederos et al. (2010)</a> analyzed a large group of 924 Cuban individuals, including 394 presymptomatic and 530 affected individuals with 32 to 79 CAG repeats. There was a highly significant negative linear relation between mean age at onset and CAG repeat number. There was a significant increase in the probability of manifesting disease for a given age as the CAG repeat number increased from 34 to 45 units. Cumulative probability curves for disease manifestation at a particular age for each CAG repeat length in the 34 to 45 unit range were significantly different for each studied CAG repeat number, stressing the importance of expanded allele CAG repeat number as the principal factor in determining age at onset in SCA2. Overall, the mean age at onset diminished by 4.15 +/- 3.45 years for each increase in the CAG repeat number. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8896556+8896557+20095980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#61" class="mim-tip-reference" title="Tan, R. H., Kril, J. J., McGinley, C., Hassani, M., Masuda-Suzukake, M., Hasegawa, M., Mito, R., Kiernan, M. C., Halliday, G. M. <strong>Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions.</strong> Ann. Neurol. 79: 295-305, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26599997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26599997</a>] [<a href="https://doi.org/10.1002/ana.24565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26599997">Tan et al. (2016)</a> evaluated cerebellar neuronal loss in brain specimens from 24 patients with classic ALS (8 with C9ORF72 (<a href="/entry/614260">614260</a>) repeat expansions, 3 with intermediate (29-32) polyQ repeats in ATXN2, and 13 sporadic cases), 5 patients with progressive muscular atrophy (PMA), and 10 controls. Significant Purkinje cell loss was demonstrated in the cerebellar vermis of patients with intermediate polyQ expansions in ATXN2; conversely, no neuronal loss was observed in the cerebellar vermis in patients with C9ORF72 expansions, sporadic ALS, or sporadic PMA. Dipeptide immunoreactive neuronal inclusions were seen in the vermis and lateral cerebellar hemispheres in patients with only C9ORF72 expansions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26599997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="inheritance" class="mim-anchor"></a>
|
|
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>SCA2 is most often transmitted in an autosomal dominant pattern of inheritance, and genetic anticipation is observed (<a href="#40" class="mim-tip-reference" title="Pulst, S.-M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X.-N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., DeJong, P., Rouleau, G. A., Auburger, G., Korenberg, J. R., Figueroa, C., Sahba, S. <strong>Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.</strong> Nature Genet. 14: 269-276, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896555</a>] [<a href="https://doi.org/10.1038/ng1196-269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896555">Pulst et al., 1996</a>). However, rare patients with homozygous ATXN2 repeat expansions have been reported (<a href="#42" class="mim-tip-reference" title="Ragothaman, M., Sarangmath, N., Chaudhary, S., Khare, V., Mittal, U., Sharma, S., Komatireddy, S., Chakrabarti, S., Mukerji, M., Juyal, R. C., Thelma, B. K., Muthane, U. B. <strong>Complex phenotypes in an Indian family with homozygous SCA2 mutations.</strong> Ann. Neurol. 55: 130-133, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14705123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14705123</a>] [<a href="https://doi.org/10.1002/ana.10815" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14705123">Ragothaman et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8896555+14705123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In a Nebraska kindred with 33 affected members, of whom 12 were living, <a href="#43" class="mim-tip-reference" title="Ranum, L. P. W., Rich, S. S., Nance, M. A., Duvick, L. A., Aita, J. F., Orr, H. T., Anton-Johnson, S., Schut, L. J. <strong>Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred.</strong> Neurology 42: 344-347, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1736163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1736163</a>] [<a href="https://doi.org/10.1212/wnl.42.2.344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1736163">Ranum et al. (1992)</a> excluded linkage to the highly informative GT-repeat marker D6S89, which had been located on 6p and found to be closely linked to the SCA1 locus in 5 other large kindreds. They excluded linkage to this marker for moderate to tight linkage, less than 11% recombination. The disorder was clinically indistinguishable from that in the linked kindreds. The clinical features were also identical to those in the Cuban family described by <a href="#36" class="mim-tip-reference" title="Orozco Diaz, G., Nodarse Fleites, A., Cordoves Sagaz, R., Auburger, G. <strong>Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba.</strong> Neurology 40: 1369-1375, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2392220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2392220</a>] [<a href="https://doi.org/10.1212/wnl.40.9.1369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2392220">Orozco Diaz et al. (1990)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2392220+1736163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Gispert, S., Twells, R., Orozco, G., Brice, A., Weber, J., Heredero, L., Scheufler, K., Riley, B., Allotey, R., Nothers, C., Hillermann, R., Lunkes, A., and 17 others. <strong>Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.</strong> Nature Genet. 4: 295-299, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8358438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8358438</a>] [<a href="https://doi.org/10.1038/ng0793-295" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8358438">Gispert et al. (1993)</a> found that in the large Cuban (Holguin) kindred that failed to show linkage to chromosome 6 markers, the locus, designated SCA2, could be assigned to 12q23-q24.1 by linkage analysis. Probable flanking markers were D12S58 and phospholipase A2 (PLA2A; <a href="/entry/172410">172410</a>). <a href="#24" class="mim-tip-reference" title="Hernandez, A., Magarino, C., Gispert, S., Santos, N., Lunkes, A., Orozco, G., Heredero, L., Beckmann, J., Auburger, G. <strong>Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1.</strong> Genomics 25: 433-435, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7789976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7789976</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80043-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7789976">Hernandez et al. (1995)</a> performed further studies on 11 large pedigrees from the Holguin SCA2 family collective. Three-point analysis localized the SCA2 mutation within the 6-cM interval between D12S84 and D12S79. The microsatellite D12S105 within that interval showed a peak 2-point lod score 16.14 at theta = 0.00, as well as complete linkage disequilibrium among affected individuals. A common disease haplotype was found in all family ancestors, supporting an SCA2 founder effect in Holguin. Investigation of linkage to the interval containing SCA2 in 7 French autosomal dominant SCA families, previously excluded from linkage to SCA1, provided preliminary data suggesting the existence of a third locus, SCA3 (<a href="/entry/607047">607047</a>). In 2 kindreds, 1 Austrian-Canadian and 1 French-Canadian, <a href="#33" class="mim-tip-reference" title="Lopes-Cendes, I., Andermann, E., Attig, E., Cendes, F., Bosch, S., Wagner, M., Gerstenbrand, F., Andermann, F., Rouleau, G. A. <strong>Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.</strong> Am. J. Hum. Genet. 54: 774-781, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8178818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8178818</a>]" pmid="8178818">Lopes-Cendes et al. (1994)</a> found that an autosomal dominant form of SCA could be mapped within a region of approximately 16 cM between the microsatellite markers D12S58 and D12S84/D12S105. <a href="#54" class="mim-tip-reference" title="Silveira, I., Manaia, A., Melki, J., Magarino, C., Lunkes, A., Hernandez, A., Gispert, S., Burlet, P., Rozet, J.-M., Coutinho, P., Loureiro, J. E. L., Guimaraes, J., Auburger, G., Munnich, A., Sequeiros, J. <strong>Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2).</strong> Genomics 17: 556-559, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7902323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7902323</a>] [<a href="https://doi.org/10.1006/geno.1993.1371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7902323">Silveira et al. (1993)</a> found that Machado-Joseph disease is not linked to the phenylalanine hydroxylase locus (PAH; <a href="/entry/612349">612349</a>) on chromosome 12q; MJD was subsequently mapped to chromosome 14. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7902323+7789976+8358438+8178818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Gispert, S., Lunkes, A., Santos, N., Orozco, G., Ha-Hao, D., Ratzlaff, T., Aguiar, J., Torrens, I., Heredero, L., Brice, A., Cancel, G., Stevanin, G., and 13 others. <strong>Localization of the candidate gene D-amino acid oxidase outside the refined 1-cM region of spinocerebellar ataxia 2. (Letter)</strong> Am. J. Hum. Genet. 57: 972-975, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573064</a>]" pmid="7573064">Gispert et al. (1995)</a> reported that complete allelic association was established with the microsatellite marker D12S105. The D12S105 sequence, including 342 basepairs representing the region of maximal allelic association in the Cuban SCA2 founder effect, was subjected to sequence homology analysis at the European Molecular Biology Laboratories database and yielded an almost perfect match (99.7% similarity) with intron 1 of the human D-amino acid oxidase gene (DAO; <a href="/entry/124050">124050</a>), which had previously been shown to be linked to all SCA2 pedigrees worldwide with no recombination (<a href="#24" class="mim-tip-reference" title="Hernandez, A., Magarino, C., Gispert, S., Santos, N., Lunkes, A., Orozco, G., Heredero, L., Beckmann, J., Auburger, G. <strong>Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1.</strong> Genomics 25: 433-435, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7789976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7789976</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80043-l" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7789976">Hernandez et al., 1995</a>). The small sequence differences were the result of length variations in the 4 primitive repeat motifs contained in this intron. The authors stated that a mutation in the DAO gene could fit well with previous hypotheses on the pathologic mechanism of spinocerebellar degeneration, since oral loading tests with glutamate in such patients have demonstrated a decreased metabolism of glutamic acid and aspartic acid, and since accumulation of the excitotoxic neurotransmitter glutamate is known to lead to cerebellar Purkinje neuron death. However, <a href="#17" class="mim-tip-reference" title="Gispert, S., Lunkes, A., Santos, N., Orozco, G., Ha-Hao, D., Ratzlaff, T., Aguiar, J., Torrens, I., Heredero, L., Brice, A., Cancel, G., Stevanin, G., and 13 others. <strong>Localization of the candidate gene D-amino acid oxidase outside the refined 1-cM region of spinocerebellar ataxia 2. (Letter)</strong> Am. J. Hum. Genet. 57: 972-975, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573064</a>]" pmid="7573064">Gispert et al. (1995)</a> found recombinants between SCA2 and a second microsatellite marker within intron 1 of the DAO gene. These and other recombination data of <a href="#17" class="mim-tip-reference" title="Gispert, S., Lunkes, A., Santos, N., Orozco, G., Ha-Hao, D., Ratzlaff, T., Aguiar, J., Torrens, I., Heredero, L., Brice, A., Cancel, G., Stevanin, G., and 13 others. <strong>Localization of the candidate gene D-amino acid oxidase outside the refined 1-cM region of spinocerebellar ataxia 2. (Letter)</strong> Am. J. Hum. Genet. 57: 972-975, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573064</a>]" pmid="7573064">Gispert et al. (1995)</a> excluded the DAO gene from the SCA2 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7789976+7573064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Belal, S., Cancel, G., Stevanin, G., Hentati, F., Khati, C., Ben Hamida, C., Auburger, G., Agid, Y., Ben Hamida, M., Brice, A. <strong>Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus.</strong> Neurology 44: 1423-1426, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8058142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8058142</a>] [<a href="https://doi.org/10.1212/wnl.44.8.1423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8058142">Belal et al. (1994)</a> described an affected Tunisian family that showed linkage to the SCA2 locus. Multipoint linkage analysis, including markers D12S78, D12S79, and D12S105, generated a peak lod score of 3.46 at the D12S105 locus. By this analysis the SCA2 gene was localized to a 12.8-cM interval between D12S78 and D12S79. The members of the Tunisian pedigree exhibited progressive cerebellar ataxia and dysarthria with or without ophthalmoplegia, optic atrophy, pyramidal signs, sensory loss, dementia, or extrapyramidal features. Extrapyramidal signs were found in 23% of the Tunisians but in none of the Cubans. <a href="#26" class="mim-tip-reference" title="Ihara, T., Sasaki, H., Wakisara, A., Takada, A., Yoshiki, T., Matsuura, T., Hamada, T., Suzuki, Y., Tashiro, K. <strong>Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2).</strong> Jpn. J. Hum. Genet. 39: 305-313, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7841441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7841441</a>] [<a href="https://doi.org/10.1007/BF01874049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7841441">Ihara et al. (1994)</a> identified Japanese families with OPCA showing linkage to a 6.2-cM interval between IGF1 (<a href="/entry/147440">147440</a>) and D12S84/D12S85 on chromosome 12. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8058142+7841441" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#41" class="mim-tip-reference" title="Pulst, S.-M., Nechiporuk, A., Starkman, S. <strong>Anticipation in spinocerebellar ataxia type 2. (Letter)</strong> Nature Genet. 5: 8-10, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220431</a>] [<a href="https://doi.org/10.1038/ng0993-8c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220431">Pulst et al. (1993)</a> identified a pedigree with linkage to 12q and established closer flanking markers for SCA2 than had been achieved in the Cuban pedigree. The second family was of southern Italian descent and showed segregation for SCA in 5 generations. All affected persons showed marked appendicular and gait ataxia as well as slow saccadic eye movements (<a href="#58" class="mim-tip-reference" title="Starkman, S., Kaul, S., Fried, J., Behrens, M. <strong>Unusual abnormal eye movements in a family with hereditary spinocerebellar degeneration. (Abstract)</strong> Neurology 22: 402, 1972."None>Starkman et al., 1972</a>). Mean age of onset in 19 affecteds was 26.9 +/- 12.5. Anticipation was demonstrated in this family; in 14 of 15 parent-child pairs, onset of the disease in the offspring occurred earlier than in the parent by 14.4 +/- 7.9 years. <a href="#41" class="mim-tip-reference" title="Pulst, S.-M., Nechiporuk, A., Starkman, S. <strong>Anticipation in spinocerebellar ataxia type 2. (Letter)</strong> Nature Genet. 5: 8-10, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220431</a>] [<a href="https://doi.org/10.1038/ng0993-8c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220431">Pulst et al. (1993)</a> suggested that this indicates that an expanded triplet repeat underlies SCA2 as it does in SCA1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8220431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="pathogenesis" class="mim-anchor"></a>
|
|
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimPathogenesisToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimPathogenesisFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Using a monoclonal antibody that recognizes expanded polyglutamine stretches in TATA box-binding protein (<a href="/entry/600075">600075</a>), mutant huntingtin (<a href="/entry/613004">613004</a>), mutant ataxin-1 (<a href="/entry/164400">164400</a>), and glutamine expanded proteins in patients with SCA3 (<a href="/entry/109150">109150</a>), <a href="#62" class="mim-tip-reference" title="Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L., Agid, Y., Brice, A., Mandel, J.-L. <strong>Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.</strong> Nature 378: 403-406, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477379</a>] [<a href="https://doi.org/10.1038/378403a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477379">Trottier et al. (1995)</a> used Western blotting to detect a 150-kD protein in a patient with SCA2, but not his normal relative. By analogy to other disorders associated with anticipation in expanded triplet repeats, they suggested that this may be the protein encoded by the mutant gene responsible for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Proteins with long polyQ tracts have an increased tendency to aggregate, often as truncated fragments forming ubiquitinated intranuclear inclusion bodies. In SCA2 brains, <a href="#25" class="mim-tip-reference" title="Huynh, D. P., Figueroa, K., Hoang, N., Pulst, S.-M. <strong>Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human.</strong> Nature Genet. 26: 44-50, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973246</a>] [<a href="https://doi.org/10.1038/79162" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10973246">Huynh et al. (2000)</a> found cytoplasmic, but not nuclear, microaggregates. Mice expressing ataxin-2 with Q58 (58 CAG repeats) showed progressive functional deficits accompanied by loss of the Purkinje cell dendritic arbor and finally loss of Purkinje cells. Despite similar functional deficits and anatomic changes observed in ataxin-1(Q80) transgenic lines, ataxin-2(Q58) remained cytoplasmic without detectable ubiquitination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Sisodia, S. S. <strong>Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial?</strong> Cell 95: 1-4, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9778239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9778239</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81743-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9778239">Sisodia (1998)</a> reviewed the significance of nuclear inclusions in glutamine repeat disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9778239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The ATXN2 promoter is located exon 1 of the ATXN2 gene in a typical CpG island devoid of a TATA box and is usually partially methylated. Using a methyl-specific PCR protocol, <a href="#29" class="mim-tip-reference" title="Laffita-Mesa, J. M., Bauer, P. O., Kouri, V., Pena Serrano, L., Roskams, J., Almaguer Gotay, D., Montes Brown, J. C., Martinez Rodriguez, P. A., Gonzalez-Zaldivar, Y., Almaguer Mederos, L., Cuello-Almarales, D., Aguiar Santiago, J. <strong>Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications.</strong> Hum. Genet. 131: 625-638, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22037902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22037902</a>] [<a href="https://doi.org/10.1007/s00439-011-1101-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22037902">Laffita-Mesa et al. (2012)</a> found differences in the methylation levels of the ATXN2 promoter in a family in which anticipation was observed without CAG repeat expansion. Specifically, the promoter was hypomethylated in an affected son with earlier onset of SCA2 compared to that of his affected mother with later onset of the disorder, even though both patients carried CAG expansions of 39 repeats on the pathogenic allele. In 9 SCA2 patients, quantitative analysis indicated that hypermethylation at the promoter, leading to partial or complete epigenetic silencing, was associated with longer expansions of the ATXN2 repeat and that alleles with pathogenic CAG expansions were preferentially hypermethylated. These findings may represent part of the cellular defense mechanism to reduce the burden of cytotoxic mutant ATXN2. Study of 2 patients with homozygous expansions of 43 and 39 CAG repeats, respectively, found an association between hypermethylation at the ATXN2 promoter and delayed age at onset. SCA3 (<a href="/entry/109150">109150</a>) is caused by a similar CAG repeat expansion in the ATXN3 gene (<a href="/entry/607047">607047</a>), which is closely connected to ATXN2. <a href="#29" class="mim-tip-reference" title="Laffita-Mesa, J. M., Bauer, P. O., Kouri, V., Pena Serrano, L., Roskams, J., Almaguer Gotay, D., Montes Brown, J. C., Martinez Rodriguez, P. A., Gonzalez-Zaldivar, Y., Almaguer Mederos, L., Cuello-Almarales, D., Aguiar Santiago, J. <strong>Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications.</strong> Hum. Genet. 131: 625-638, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22037902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22037902</a>] [<a href="https://doi.org/10.1007/s00439-011-1101-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22037902">Laffita-Mesa et al. (2012)</a> also found that hypermethylation at the ATXN2 promoter was associated with lower age of onset of SCA3, although methylation at the ATXN3 promoter had no effect on age at onset of SCA3. These findings suggested that the development of SCA3 may involve physiologic functions of ATXN2. Overall, the report of <a href="#29" class="mim-tip-reference" title="Laffita-Mesa, J. M., Bauer, P. O., Kouri, V., Pena Serrano, L., Roskams, J., Almaguer Gotay, D., Montes Brown, J. C., Martinez Rodriguez, P. A., Gonzalez-Zaldivar, Y., Almaguer Mederos, L., Cuello-Almarales, D., Aguiar Santiago, J. <strong>Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications.</strong> Hum. Genet. 131: 625-638, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22037902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22037902</a>] [<a href="https://doi.org/10.1007/s00439-011-1101-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22037902">Laffita-Mesa et al. (2012)</a> showed that methylation of the ATXN2 promoter can occur, consistent with epigenetic control of ATXN2 expression, and that differences in methylation may affect disease course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22037902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Spinocerebellar Ataxia 2</em></strong></p><p>
|
|
In patients with spinocerebellar ataxia-2, <a href="#40" class="mim-tip-reference" title="Pulst, S.-M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X.-N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., DeJong, P., Rouleau, G. A., Auburger, G., Korenberg, J. R., Figueroa, C., Sahba, S. <strong>Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.</strong> Nature Genet. 14: 269-276, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896555</a>] [<a href="https://doi.org/10.1038/ng1196-269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896555">Pulst et al. (1996)</a> identified a (CAG)n repeat located in the 5-prime end of the coding region of the ATXN2 gene (<a href="/entry/601517#0001">601517.0001</a>). They detected expansions of 36 to 52 repeats in affected individuals; the most common allele contained 37 repeats. They noted that the SCA2 repeat is unusual in that only 2 alleles were demonstrated in the normal population. A common allele with 22 repeats was found in people of European descent. Using RT-PCR, <a href="#40" class="mim-tip-reference" title="Pulst, S.-M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X.-N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., DeJong, P., Rouleau, G. A., Auburger, G., Korenberg, J. R., Figueroa, C., Sahba, S. <strong>Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.</strong> Nature Genet. 14: 269-276, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896555</a>] [<a href="https://doi.org/10.1038/ng1196-269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896555">Pulst et al. (1996)</a> determined that the SCA2 (CAG)n repeat is transcribed in lymphoblastoid cell lines and that the cells could be used to express the expanded repeat genes from patients with SCA2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#49" class="mim-tip-reference" title="Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., Koide, R., Saito, M., and 13 others. <strong>Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.</strong> Nature Genet. 14: 277-284, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896556</a>] [<a href="https://doi.org/10.1038/ng1196-277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896556">Sanpei et al. (1996)</a> analyzed 286 normal chromosomes and found that the (CAG)n repeats ranged in size from 15 to 24, with a unit of 22 repeats accounting for 94% of the alleles. In contrast, SCA2 patient chromosomes contained expanded repeats ranging in size from 35 to 59 units. <a href="#49" class="mim-tip-reference" title="Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., Koide, R., Saito, M., and 13 others. <strong>Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.</strong> Nature Genet. 14: 277-284, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896556</a>] [<a href="https://doi.org/10.1038/ng1196-277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896556">Sanpei et al. (1996)</a> reported that there was a strong inverse correlation between the size of the (CAG)n repeat and the age of onset of SCA2 symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.-M., Weber, C., Mandel, J.-L., Cancel, G., Abbas, N., Durr, A., Didierjean, O., Stevanin, G., Agid, Y., Brice, A. <strong>Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.</strong> Nature Genet. 14: 285-291, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896557</a>] [<a href="https://doi.org/10.1038/ng1196-285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896557">Imbert et al. (1996)</a> reported that normal SCA2 alleles contained 17 to 29 (CAG)n repeats and 1 to 3 (CAA)n repeats (also glutamine-encoding). Mutated alleles contained 37 to 50 repeats and appeared to be particularly unstable in maternal and paternal transmissions. Sequence analysis of expanded repeats from 3 individuals revealed pure CAG stretches. <a href="#27" class="mim-tip-reference" title="Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.-M., Weber, C., Mandel, J.-L., Cancel, G., Abbas, N., Durr, A., Didierjean, O., Stevanin, G., Agid, Y., Brice, A. <strong>Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.</strong> Nature Genet. 14: 285-291, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896557</a>] [<a href="https://doi.org/10.1038/ng1196-285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896557">Imbert et al. (1996)</a> reported a steep inverse correlation between the age of onset of disease and (CAG)n repeat number. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Riess, O., Laccone, F. A., Gispert, S., Schols, L., Zuhlke, C., Vieira-Saecker, A. M. M., Herlt, S., Wessel, K., Epplen, J. T., Weber, B. H. F., Kreuz, F., Chahrokh-Zadeh, S., and 11 others. <strong>SCA2 trinucleotide expansion in German SCA patients.</strong> Neurogenetics 1: 59-64, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10735276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10735276</a>] [<a href="https://doi.org/10.1007/s100480050009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10735276">Riess et al. (1997)</a> investigated the (CAG)n repeat length of the ATXN2 gene in 842 patients with sporadic ataxia and in 96 German patients with dominantly inherited SCA that did not harbor the SCA1 or MJD1/SCA3 mutation. The SCA2 (CAG)n expansion was identified in 71 patients from 54 families. The (CAG)n stretch of the affected allele varied between 36 and 64 trinucleotide units. Significant repeat expansions occurred most commonly during paternal transmission. Analysis of the (CAG)n repeat lengths with respect to the age of onset in 41 patients revealed an inverse correlation. They found that 241 apparently healthy octogenarians carried alleles between 16 and 31 repeats. One 50-year-old healthy individual had 34 repeats; she had transmitted an expanded allele to her child. <a href="#44" class="mim-tip-reference" title="Riess, O., Laccone, F. A., Gispert, S., Schols, L., Zuhlke, C., Vieira-Saecker, A. M. M., Herlt, S., Wessel, K., Epplen, J. T., Weber, B. H. F., Kreuz, F., Chahrokh-Zadeh, S., and 11 others. <strong>SCA2 trinucleotide expansion in German SCA patients.</strong> Neurogenetics 1: 59-64, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10735276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10735276</a>] [<a href="https://doi.org/10.1007/s100480050009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10735276">Riess et al. (1997)</a> commented that the small difference between 'normal' and disease alleles makes it necessary to define the extreme values of their reaches. With one exception, the trinucleotide expansion was not observed in 842 ataxia patients without a family history of the disease. The SCA2 mutation causes the disease in nearly 14% of autosomal dominant SCA in Germany. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10735276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#66" class="mim-tip-reference" title="van de Warrenburg, B. P. C., Hendriks, H., Durr, A., van Zuijlen, M. C. A., Stevanin, G., Camuzat, A., Sinke, R. J., Brice, A., Kremer, B. P. H. <strong>Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.</strong> Ann. Neurol. 57: 505-512, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15747371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15747371</a>] [<a href="https://doi.org/10.1002/ana.20424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15747371">Van de Warrenburg et al. (2005)</a> applied statistical analysis to examine the relationship between age at onset and number of expanded triplet repeats from a Dutch-French cohort of 802 patients with SCA1 (138 patients), SCA2 (166 patients), SCA3 (342 patients), SCA6 (53 patients), and SCA7 (103 patients). The size of the expanded repeat explained 66 to 75% of the variance in age at onset for SCA1, SCA2, and SCA7, but less than 50% for SCA3 and SCA6. The relation between age at onset and CAG repeat was similar for all groups except for SCA2, suggesting that the polyglutamine repeat in the ataxin-2 protein exerts its pathologic effect in a different way. A contribution of the nonexpanded allele to age at onset was observed for only SCA1 and SCA6. <a href="#66" class="mim-tip-reference" title="van de Warrenburg, B. P. C., Hendriks, H., Durr, A., van Zuijlen, M. C. A., Stevanin, G., Camuzat, A., Sinke, R. J., Brice, A., Kremer, B. P. H. <strong>Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.</strong> Ann. Neurol. 57: 505-512, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15747371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15747371</a>] [<a href="https://doi.org/10.1002/ana.20424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15747371">Van de Warrenburg et al. (2005)</a> acknowledged that their results were purely mathematical, but suggested that they reflected biologic variations among the diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15747371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#56" class="mim-tip-reference" title="Spadafora, P., Annesi, G., Liguori, M., Tarantino, P., Cutuli, N., Carrideo, S., Ciro Candiano, I. C., De Marco, E. V., Civitelli, D., Annesi, F., Giuffrida, S., Quattrone, A. <strong>Gene dosage influences the age at onset of SCA2 in a family from southern Italy. (Letter)</strong> Clin. Genet. 72: 381-383, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17850638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17850638</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00868.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17850638">Spadafora et al. (2007)</a> reported 2 brothers and a nephew with SCA2. Molecular analysis identified CAG repeat numbers of 35/36, 22/35, and 22/42, respectively. The brother and nephew with the 35/36 and 22/42 repeat expansions showed earlier age at onset and a more severe progressive disorder compared to the brother with the 22/35 repeat expansions. The family was from Sicily and denied consanguinity, although both deceased parents of the brothers were reportedly affected late in life. <a href="#56" class="mim-tip-reference" title="Spadafora, P., Annesi, G., Liguori, M., Tarantino, P., Cutuli, N., Carrideo, S., Ciro Candiano, I. C., De Marco, E. V., Civitelli, D., Annesi, F., Giuffrida, S., Quattrone, A. <strong>Gene dosage influences the age at onset of SCA2 in a family from southern Italy. (Letter)</strong> Clin. Genet. 72: 381-383, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17850638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17850638</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00868.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17850638">Spadafora et al. (2007)</a> concluded that SCA2 shows gene dosage effects on phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17850638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Amyotrophic Lateral Sclerosis 13</em></strong></p><p>
|
|
<a href="#13" class="mim-tip-reference" title="Elden, A. C., Kim, H.-J., Hart, M. P., Chen-Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R., Lu, M. M., Padmanabhan, A., Clay-Falcone, D., and 11 others. <strong>Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.</strong> Nature 466: 1069-1075, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20740007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20740007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20740007[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20740007">Elden et al. (2010)</a> demonstrated genetic, biochemical, and neuropathologic interactions between TDP43 (<a href="/entry/605078">605078</a>), a protein involved in amyotrophic lateral sclerosis (ALS10; <a href="/entry/612069">612069</a>), and ATXN2, which raised the possibility that mutations in ATXN2 may have a causative role in ALS. The ATXN2 polyQ tract length, although variable, is most frequently 22-23, with expansions of greater than 34 causing SCA2. However, the variable nature of the polyQ repeat indicated a mechanism by which such mutations in ATXN2 could be linked to ALS: <a href="#13" class="mim-tip-reference" title="Elden, A. C., Kim, H.-J., Hart, M. P., Chen-Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R., Lu, M. M., Padmanabhan, A., Clay-Falcone, D., and 11 others. <strong>Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.</strong> Nature 466: 1069-1075, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20740007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20740007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20740007[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20740007">Elden et al. (2010)</a> proposed that intermediate-length expansions greater than 23 but below the threshold for SCA2 may be associated with ALS. They studied the frequency of intermediate-length ATXN2 polyglutamine repeat in ALS, comparing 915 subjects with ALS with 980 neurologically normal controls. Among those with ALS, 4.7% (43) had repeat lengths of 27 to 33, whereas only 1.4% (14) of neurologically normal subjects had glutamine expansions. The P value for this difference was 3.6 x 10(-5) with an odds ratio (OR) of 2.80. <a href="#13" class="mim-tip-reference" title="Elden, A. C., Kim, H.-J., Hart, M. P., Chen-Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R., Lu, M. M., Padmanabhan, A., Clay-Falcone, D., and 11 others. <strong>Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.</strong> Nature 466: 1069-1075, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20740007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20740007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20740007[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20740007">Elden et al. (2010)</a> analyzed ATXN2 protein levels in patient-derived lymphoblastoid cells from ALS cases harboring intermediate-length polyQ expansions, ALS cases with normal-range repeat lengths, and controls. These studies showed that whereas the steady-state levels of ATXN2 were comparable, cyclohexamide treatment, which blocks new protein synthesis, revealed an increase in stability (or decreased degradation) of ATXN2 in cells with intermediate-length polyQ repeats. <a href="#13" class="mim-tip-reference" title="Elden, A. C., Kim, H.-J., Hart, M. P., Chen-Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R., Lu, M. M., Padmanabhan, A., Clay-Falcone, D., and 11 others. <strong>Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.</strong> Nature 466: 1069-1075, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20740007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20740007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20740007[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20740007">Elden et al. (2010)</a> found that polyQ expansions in ATXN2 enhance its interaction with TDP43. Both ATXN2 and TDP43 relocalize to stress granules, sites of RNA processing, under various stress situations such as heat shock and oxidative stress. Under normal conditions TDP43 localized to the nucleus and ATXN2 to the cytoplasm in both control cells and cells harboring polyQ repeat expansions. The authors proposed that intermediate-length ATXN2 polyQ repeats might confer genetic risk for ALS by making TDP43 more prone to mislocalize from the nucleus to the cytoplasm under situations of stress. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20740007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a case-control study of 556 ALS patients and 471 controls of French or French Canadian origin, <a href="#12" class="mim-tip-reference" title="Daoud, H., Belzil, V., Martins, S., Sabbagh, M., Provencher, P., Lacomblez, L., Meininger, V., Camu, W., Dupre, N., Dion, P. A., Rouleau, G. A. <strong>Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.</strong> Arch. Neurol. 68: 739-742, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21670397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21670397</a>] [<a href="https://doi.org/10.1001/archneurol.2011.111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21670397">Daoud et al. (2011)</a> found that 7.2% of patients and 5.1% of controls had 1 intermediate repeat allele (24-33 repeats), which was not significantly different. However, receiver operating characteristic curve analysis yielded a significant association between ALS and high-length ATXN2 repeat alleles (29 or more repeats). CAG repeats of 29 or more were found in only 4 controls (0.8%), whereas they were found in 25 patients (4.5%) (OR, 5.5; p = 2.4 x 10(-4)). The association was even stronger for familial cases when stratified by familial versus sporadic cases (OR for familial cases, 9.29; p = 5.2 x 10(-5)). There was no correlation between size of repeat and age of onset. In addition, 2 familial and 9 sporadic ALS cases carried SCA2-sized pathogenic alleles (more than 32 repeats), and none had features of SCA2 such as cerebellar or brainstem atrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21670397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 1,845 sporadic and 103 familial ALS cases and 2,002 controls from Belgium and the Netherlands, <a href="#65" class="mim-tip-reference" title="Van Damme, P., Veldink, J. H., van Blitterswijk, M., Corveleyn, A., van Vught, P. W. J., Thijs, V., Dubois, B., Matthijs, G., van den Berg, L. H., Robberecht, W. <strong>Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.</strong> Neurology 76: 2066-2072, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21562247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21562247</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31821f445b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21562247">Van Damme et al. (2011)</a> found an association between ALS and an expanded repeat of 29 or more CAG repeats in the ATXN2 gene (OR, 1.92; p = 0.036). In controls, the repeat length ranged from 16 to 31, with 22 being the most abundant. Repeat sizes of 31 or less were not significantly different between patients and controls. However, receiver operating characteristic analysis showed that the greatest sensitivity and specificity of discriminating ALS from control was using a cutoff of 29 repeats: 1.5% of patients had 29 or more repeats compared to 0.8% of controls (OR, 1.92; p = 0.036). There was no correlation between repeat length and disease parameters. When combined in a metaanalysis with the data of <a href="#13" class="mim-tip-reference" title="Elden, A. C., Kim, H.-J., Hart, M. P., Chen-Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R., Lu, M. M., Padmanabhan, A., Clay-Falcone, D., and 11 others. <strong>Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.</strong> Nature 466: 1069-1075, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20740007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20740007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20740007[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20740007">Elden et al. (2010)</a>, the association was highly significant (OR, 2.93; p less than 0.0001). Ten patients (0.05%) with sporadic ALS had 32 or more repeats, and none of these patients had signs of SCA2. Two of 91 families with ALS (2.2%) had expanded repeats: 1 with 31 repeats and the other with 33 repeats. In the 33-repeat family, which was consanguineous, 2 affected individuals had repeat expansions on both alleles, 33:33 and 33:31, respectively, although the phenotype was not significantly different from classic ALS, except for some sensory abnormalities. Two sibs from a third family with a heterozygous repeat length of 34 and 35, respectively, had classic SCA2 with no signs of upper motor neuron involvement. The findings indicated a genetic overlap between SCA2 and ALS13. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20740007+21562247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 3,919 patients with various neurodegenerative diseases, including 532 with ALS, 641 with frontotemporal dementia (FTD; <a href="/entry/600274">600274</a>), 1,530 with Alzheimer disease (AD; <a href="/entry/104300">104300</a>), 702 with Parkinson disease (PD; <a href="/entry/168600">168600</a>), and 514 with progressive supranuclear palsy (PSP; <a href="/entry/601104">601104</a>), and 4,877 healthy controls, <a href="#46" class="mim-tip-reference" title="Ross, O. A., Rutherford, N. J., Baker, M., Soto-Ortolaza, A. I., Carrasquillo, M. M., DeJesus-Hernandez, M., Adamson, J., Li, M., Volkening, K., Finger, E., Seeley, W. W., Hatanpaa, K. J., and 21 others. <strong>Ataxin-2 repeat-length variation and neurodegeneration.</strong> Hum. Molec. Genet. 20: 3207-3212, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21610160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21610160</a>] [<a href="https://doi.org/10.1093/hmg/ddr227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21610160">Ross et al. (2011)</a> found that ATXN2 repeat lengths greater than 30 units were significantly associated with ALS (odds ratio of 5.57; p = 0.001) and with PSP (OR of 5.83; p = 0.004). Repeat expansions were found in 8 (1.5%) ALS patients, 4 (0.8%) PSP patients, and 9 (0.2%) controls. Significant associations between repeats greater than 30 were not observed in patients with FTD, AD, or PD. The findings of expanded repeat alleles (31 to 33) in control individuals indicated that caution should be taken when attributing specific disease phenotypes to these repeat lengths. However, 6 of the controls with expanded repeats were under the mean onset age of all patient groups except PD. The findings confirmed the role of ATXN2 as an important risk factor for ALS and suggested that expanded ATXN2 repeats may predispose to other neurodegenerative diseases, including progressive supranuclear palsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21610160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Chio, A., Calvo, A., Moglia, C., Canosa, A., Brunetti, M., Barberis, M., Restagno, G., Conte, A., Bisogni, G., Marangi, G., Moncada, A., Lattante, S., and 9 others. <strong>ATXN2 polyQ intermediate repeats are a modifier of ALS survival.</strong> Neurology 84: 251-258, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25527265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25527265</a>] [<a href="https://doi.org/10.1212/WNL.0000000000001159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25527265">Chio et al. (2015)</a> evaluated polyQ repeats in the ATXN2 gene in 672 patients from Italy with ALS and matched controls. Thirty-one or more polyQ repeats in the ATXN1 gene were significantly more common in ALS cases. <a href="#11" class="mim-tip-reference" title="Chio, A., Calvo, A., Moglia, C., Canosa, A., Brunetti, M., Barberis, M., Restagno, G., Conte, A., Bisogni, G., Marangi, G., Moncada, A., Lattante, S., and 9 others. <strong>ATXN2 polyQ intermediate repeats are a modifier of ALS survival.</strong> Neurology 84: 251-258, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25527265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25527265</a>] [<a href="https://doi.org/10.1212/WNL.0000000000001159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25527265">Chio et al. (2015)</a> also found that the presence of 31 or more polyQ repeats had a shorter median survival. These findings were replicated in an additional cohort of 661 Italian patients with ALS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25527265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Glass, J. D., Dewan, R., Ding, J., Gibbs, J. R., Dalgard, C., Keagle, P. J., Shankaracharya, Garcia-Redondo, A., Traynor, B. J., Chia, R., Landers, J. E. <strong>ATXN2 intermediate expansions in amyotrophic lateral sclerosis.</strong> Brain 145: 2671-2676, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35521889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35521889</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35521889[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awac167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35521889">Glass et al. (2022)</a> evaluated polyQ repeats in the ATXN2 gene in 2,181 patients with ALS, 71 patients with ALS combined with frontotemporal dementia (FTDALS), 1,485 patients with frontotemporal dementia (FTD), 2,610 patients with Lewy body dementia (LBD), and 2,921 controls. The authors found that polyQ repeats of 31 or greater in the ATXN2 gene significantly increased the risk for ALS and FTDALS. In a subset of 1,362 patients with ALS from whom clinical data were available, patients with polyQ repeats of 31 or greater did not have a difference in age of onset or survival compared to patients with ALS without a polyQ tract expansion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35521889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="populationGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimPopulationGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In the vicinity of Holguin in northeastern Cuba (neighboring the Guantanamo Naval Base), <a href="#37" class="mim-tip-reference" title="Orozco, G., Estrada, R., Perry, T. L., Arana, J., Fernandez, R., Gonzalez-Quevedo, A., Galarraga, J., Hansen, S. <strong>Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings.</strong> J. Neurol. Sci. 93: 37-50, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2809629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2809629</a>] [<a href="https://doi.org/10.1016/0022-510x(89)90159-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2809629">Orozco et al. (1989)</a> estimated a frequency of 41 per 100,000 for a form of dominantly inherited olivopontocerebellar atrophy occurring in persons of Spanish ancestry. The high prevalence was thought to be the result of founder effect. The clinical and biochemical features were described together with the neuropathologic findings in 7 autopsied patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2809629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Geschwind, D. H., Perlman, S., Figueroa, C. P., Treiman, L. J., Pulst, S. M. <strong>The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.</strong> Am. J. Hum. Genet. 60: 842-850, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106530</a>]" pmid="9106530">Geschwind et al. (1997)</a> found that SCA2 accounts for 13% of patients with autosomal dominant cerebellar ataxia (without retinal degeneration), which is intermediate between SCA1 and SCA3/MJD, which account for 6% and 23%, respectively. Together, SCA1, SCA2, and SCA3/MJD constitute more than 40% of the mutations leading to autosomal cerebellar ataxia type I. <a href="#16" class="mim-tip-reference" title="Geschwind, D. H., Perlman, S., Figueroa, C. P., Treiman, L. J., Pulst, S. M. <strong>The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.</strong> Am. J. Hum. Genet. 60: 842-850, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106530</a>]" pmid="9106530">Geschwind et al. (1997)</a> found that no patient without a family history of ataxia, or with a pure cerebellar or spastic syndrome, tested positive for SCA1, SCA2, or SCA3. No overlap in ataxin-2 allele size between normal and disease chromosomes, or intermediate-sized alleles, was observed. Repeat length correlated inversely with age at onset, accounting for approximately 80% of the variability in onset age. Haplotype analysis provided no evidence for a single founder chromosome, and diverse ethnic origins were observed among SCA2 kindreds. In addition, a wide spectrum of clinical phenotypes was observed among SCA2 patients, including typical mild dominant ataxia, the MJD phenotype with facial fasciculations and lid retraction, and early-onset ataxia with a rapid course, chorea, and dementia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9106530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Studying 77 German families with autosomal dominant cerebellar ataxia of SCA types 1, 2, 3, and 6, <a href="#50" class="mim-tip-reference" title="Schols, L., Amoiridis, G., Buttner, T., Przuntek, H., Epplen, J. T., Riess, O. <strong>Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?</strong> Ann. Neurol. 42: 924-932, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9403486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9403486</a>] [<a href="https://doi.org/10.1002/ana.410420615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9403486">Schols et al. (1997)</a> found that the SCA1 mutation accounted for 9%, SCA2 for 10%, SCA3 for 42%, and SCA6 for 22%. There was no family history of ataxia in 7 of 27 SCA6 patients. Age at onset correlated inversely with repeat length in all subtypes, yet the average effect of 1 CAG unit on age of onset was different for each SCA subtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9403486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#73" class="mim-tip-reference" title="Watanabe, H., Tanaka, F., Matsumoto, M., Doyu, M., Ando, T., Mitsuma, T., Sobue, G. <strong>Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6.</strong> Clin. Genet. 53: 13-19, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9550356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9550356</a>] [<a href="https://doi.org/10.1034/j.1399-0004.1998.531530104.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9550356">Watanabe et al. (1998)</a> investigated 101 kindreds with spinocerebellar ataxias from the central Honshu island of Japan, using a molecular diagnostic approach with amplification of the CAG trinucleotide repeat of the causative genes. SCA2 accounted for 5.9% of the cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9550356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 202 Japanese and 177 Caucasian families with autosomal dominant SCA, <a href="#60" class="mim-tip-reference" title="Takano, H., Cancel, G., Ikeuchi, T., Lorenzetti, D., Mawad, R., Stevanin, G., Didierjean, O., Durr, A., Oyake, M., Shimohata, T., Sasaki, R., Koide, R., Igarashi, S., Hayashi, S., Takiyama, Y., Nishizawa, M., Tanaka, H., Zoghbi, H., Brice, A., Tsuji, S. <strong>Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.</strong> Am. J. Hum. Genet. 63: 1060-1066, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758625</a>] [<a href="https://doi.org/10.1086/302067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758625">Takano et al. (1998)</a> found that the prevalence of SCA2 was significantly higher in the Caucasian population (14%) compared to the Japanese population (5%). This corresponded to higher frequencies of large normal CACNA1A CAG repeat alleles (greater than 22 repeats) in Caucasian controls compared to Japanese controls. The findings suggested that large normal alleles contribute to the generation of expanded alleles that lead to dominant SCA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Pareyson, D., Gellera, C., Castellotti, B., Antonelli, A., Riggio, M. C., Mazzucchelli, F., Girotti, F., Pietrini, V., Mariotti, C., Di Donato, S. <strong>Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes.</strong> J. Neurol. 246: 389-393, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10399872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10399872</a>] [<a href="https://doi.org/10.1007/s004150050369" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10399872">Pareyson et al. (1999)</a> evaluated 73 Italian families with type I ADCA. SCA1 was the most common genotype, accounting for 41% of cases (30 families); SCA2 was slightly less frequent (29%, 21 families), and the remaining families were negative for the SCA1, SCA2, and SCA3 mutations. Among the positively genotyped families, SCA1 was found most frequently in families from northern Italy (50%), while SCA2 was the most common mutation in families from the southern part of the country (56%). Slow saccades and decreased deep tendon reflexes were observed significantly more frequently in SCA2 patients, while increased deep tendon reflexes and nystagmus were more common in SCA1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10399872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an analysis of 42 Indian families, <a href="#48" class="mim-tip-reference" title="Saleem, Q., Choudhry, S., Mukerji, M., Bashyam, L., Padma, M. V., Chakravarthy, A., Maheshwari, M. C., Jain, S., Brahmachari, S. K. <strong>Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation.</strong> Hum. Genet. 106: 179-187, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10746559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10746559</a>] [<a href="https://doi.org/10.1007/s004390051026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10746559">Saleem et al. (2000)</a> found that SCA2 was the most frequent ataxia among those studied. In the SCA2 families, together with an intergenerational increase in repeat size, a horizontal increase with the birth order of the offspring was also observed, indicating an important role for parental age in repeat instability. This was strengthened by the detection in a pair of dizygotic twins of expanded alleles showing the same repeat number. Haplotype analysis indicated the presence of a common founder chromosome for the expanded allele in the Indian population. Polymorphism of CAG repeats in 135 normal individuals at the SCA loci studied showed similarity to the Caucasian population but was significantly different from the Japanese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10746559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#59" class="mim-tip-reference" title="Storey, E., du Sart, D., Shaw, J. H., Lorentzos, P., Kelly, L., Gardner, R. J. M., Forrest, S. M., Biros, I., Nicholson, G. A. <strong>Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia.</strong> Am. J. Med. Genet. 95: 351-357, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186889</a>] [<a href="https://doi.org/10.1002/1096-8628(20001211)95:4<351::aid-ajmg10>3.0.co;2-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11186889">Storey et al. (2000)</a> examined the frequency of mutations for SCA types 1, 2, 3, 6, and 7 (<a href="/entry/164500">164500</a>) in southeastern Australia. Of 63 pedigrees or individuals with positive tests, 30% had SCA1, 15% had SCA2, 22% had SCA3, 30% had SCA6, and 3% had SCA7. Ethnic origin was of importance in determining SCA type: 4 of 9 SCA2 index cases were of Italian origin, and 4 of 14 SCA3 index cases were of Chinese origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#76" class="mim-tip-reference" title="Zhao, Y., Tan, E. K., Law, H. Y., Yoon, C. S., Wong, M. C., Ng, I. <strong>Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore.</strong> Clin. Genet. 62: 478-481, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12485197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12485197</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.620610.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12485197">Zhao et al. (2002)</a> found that SCA2 is relatively common in the Malay population of Singapore. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12485197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Of 253 unrelated Korean patients with progressive cerebellar ataxia, <a href="#32" class="mim-tip-reference" title="Lee, W. Y., Jin, D. K., Oh, M. R., Lee, J. E., Song, S. M., Lee, E. A., Kim, G., Chung, J. S., Lee, K. H. <strong>Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.</strong> Arch. Neurol. 60: 858-863, 2003. Note: Erratum: Arch. Neurol. 60: 1256 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12810491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12810491</a>] [<a href="https://doi.org/10.1001/archneur.60.6.858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12810491">Lee et al. (2003)</a> identified 52 (20.6%) with expanded CAG repeats. The most frequent SCA type was SCA2 (33%), followed by SCA3 (29%), SCA6 (19%), SCA1 (12%), and SCA7 (8%). There were characteristic clinical features, such as hypotonia and optic atrophy for SCA1, hyporeflexia for SCA2, nystagmus, bulging eye, and dystonia for SCA3, and macular degeneration for SCA7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12810491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of ATXN2 CAG repeat alleles in about 3,000 Cuban chromosomes, <a href="#30" class="mim-tip-reference" title="Laffita-Mesa, J. M., Velazquez-Perez, L. C., Santos Falcon, N., Cruz-Marino, T., Gonzalez Zaldivar, Y., Vazquez Mojena, Y., Almaguer-Gotay, D., Almaguer Mederos, L. E., Rodriguez Labrada, R. <strong>Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.</strong> Europ. J. Hum. Genet. 20: 41-49, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21934711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21934711</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21934711[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2011.154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21934711">Laffita-Mesa et al. (2012)</a> found that the range of repeats was distributed continuously from 13 to 31 repeats, with 22 repeats being the most frequent allele (76%). However, the distribution was skewed toward the large CAG range and was higher compared to Caucasian, Japanese, Indian, and Polish populations. Cuban chromosomes also had a high frequency of intermediate alleles (32 and 33 CAG repeats). Examination of 81 normal chromosomes showed high variance in the CAG with CAA interruption sequence, with many normal alleles lacking the stability-mediating CAA interruptions. Alleles with 27-31 repeats were somatically unstable, suggesting that they may give rise to de novo pathogenic expansions. Statistical analysis pointed to 27 CAG repeats as being the threshold for intermediate alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21934711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="animalModel" class="mim-anchor"></a>
|
|
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Therapy</em></strong></p><p>
|
|
<a href="#51" class="mim-tip-reference" title="Scoles, D. R., Meera, P., Schneider, M. D., Paul, S., Dansithong, W., Figueroa, K. P., Hung, G., Rigo, F., Bennett, C. F., Otis, T. S., Pulst, S. M. <strong>Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.</strong> Nature 544: 362-366, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28405024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28405024</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28405024[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature22044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28405024">Scoles et al. (2017)</a> developed an antisense oligonucleotide, ASO7, that downregulated ATXN2 mRNA and protein, which resulted in delayed onset of the SCA2 phenotype. After delivery by intracerebroventricular injection to ATXN2-Q127 mice, ASO7 localized to Purkinje cells, reduced cerebellar ATXN2 expression below 75% for more than 10 weeks without microglial activation, and reduced the levels of cerebellar ATXN2. Treatment of symptomatic mice with ASO7 improved motor function compared to saline-treated mice. ASO7 had a similar effect in the BAC-Q72 SCA2 mouse model, and in both mouse models it normalized protein levels of several SCA2-related proteins expressed in Purkinje cells, including Rgs8, Pcp2, Pcp4, Homer3, Cep76 (<a href="/entry/620791">620791</a>), and Fam107b. Notably, the firing frequency of Purkinje cells returned to normal even when treatment was initiated more than 12 weeks after the onset of the motor phenotype in BAC-Q72 mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28405024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Harding1982" class="mim-tip-reference" title="Harding, A. E. <strong>The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of 'the Drew family of Walworth.'</strong> Brain 105: 1-28, 1982.">Harding (1982)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Almaguer-Mederos2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Almaguer-Mederos, L. E., Falcon, N. S., Almira, Y. R., Zaldivar, Y. G., Almarales, D. C., Gongora, E. M., Herrera, M. P., Batallan, K. E., Arminan, R. R., Manresa, M. V., Cruz, G. S., Laffita-Mesa, J., Cyuz, T. M., Chang, V., Auburger, G., Gispert, S., Perez, L. V.
|
|
<strong>Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis.</strong>
|
|
Clin. Genet. 78: 169-174, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20095980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20095980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20095980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.2009.01358.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Auburger1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Auburger, G., Diaz, G. O., Capote, R. F., Sanchez, S. G., Perez, M. P., Estrada del Cueto, M., Meneses, M. G., Farrall, M., Williamson, R., Chamberlain, S., Baute, L. H.
|
|
<strong>Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population.</strong>
|
|
Am. J. Hum. Genet. 46: 1163-1177, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1971152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Babovic-Vuksanovic1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Babovic-Vuksanovic, D., Snow, K., Patterson, M. C., Michels, V. V.
|
|
<strong>Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.</strong>
|
|
Am. J. Med. Genet. 79: 383-387, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9779806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9779806</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9779806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bale1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bale, A. E., Bale, S. J., Schlesinger, S. L., McFarland, H. F.
|
|
<strong>Linkage analysis in spinopontine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia.</strong>
|
|
Am. J. Med. Genet. 27: 595-602, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3477098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320270312" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Belal1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Belal, S., Cancel, G., Stevanin, G., Hentati, F., Khati, C., Ben Hamida, C., Auburger, G., Agid, Y., Ben Hamida, M., Brice, A.
|
|
<strong>Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus.</strong>
|
|
Neurology 44: 1423-1426, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8058142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8058142</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8058142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.44.8.1423" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Boller1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boller, F., Segarra, J. M.
|
|
<strong>Spino-pontine degeneration.</strong>
|
|
Europ. Neurol. 2: 356-373, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5808476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5808476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5808476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000113812" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Burk1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Burk, K., Abele, M., Fetter, M., Dichgans, J., Skalej, M., Laccone, F., Didierjean, O., Brice, A., Klockgether, T.
|
|
<strong>Autosomal dominant cerebellar ataxia type I: clinical features and MRI in families with SCA1, SCA2 and SCA3.</strong>
|
|
Brain 119: 1497-1505, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8931575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8931575</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8931575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/119.5.1497" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Burk1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Burk, K., Fetter, M., Abele, M., Laccone, F., Brice, A., Dichgans, J., Klockgether, T.
|
|
<strong>Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.</strong>
|
|
J. Neurol. 246: 789-797, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10525976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10525976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10525976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004150050456" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Buttner1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Buttner, N., Geschwind, D., Jen, J. C., Perlman, S., Pulst, S. M., Baloh, R. W.
|
|
<strong>Oculomotor phenotypes in autosomal dominant ataxias.</strong>
|
|
Arch. Neurol. 55: 1353-1357, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9779665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9779665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9779665" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.55.10.1353" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Charles2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Charles, P., Camuzat, A., Benammar, N., Sellal, F., Destee, A., Bonnet, A.-M., Lesage, S., Le Ber, I., Stevanin, G., Durr, A., Brice, A., French Parkinson's Disease Genetic Study Group.
|
|
<strong>Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?</strong>
|
|
Neurology 69: 1970-1975, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17568014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17568014</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17568014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000269323.21969.db" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Chio2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chio, A., Calvo, A., Moglia, C., Canosa, A., Brunetti, M., Barberis, M., Restagno, G., Conte, A., Bisogni, G., Marangi, G., Moncada, A., Lattante, S., and 9 others.
|
|
<strong>ATXN2 polyQ intermediate repeats are a modifier of ALS survival.</strong>
|
|
Neurology 84: 251-258, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25527265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25527265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25527265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/WNL.0000000000001159" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Daoud2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Daoud, H., Belzil, V., Martins, S., Sabbagh, M., Provencher, P., Lacomblez, L., Meininger, V., Camu, W., Dupre, N., Dion, P. A., Rouleau, G. A.
|
|
<strong>Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.</strong>
|
|
Arch. Neurol. 68: 739-742, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21670397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21670397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21670397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneurol.2011.111" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Elden2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Elden, A. C., Kim, H.-J., Hart, M. P., Chen-Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R., Lu, M. M., Padmanabhan, A., Clay-Falcone, D., and 11 others.
|
|
<strong>Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.</strong>
|
|
Nature 466: 1069-1075, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20740007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20740007</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20740007[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20740007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature09320" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Eto1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Eto, K., Sumi, S. M., Bird, T. D., McEvoy-Bush, T., Boehnke, M., Schellenberg, G.
|
|
<strong>Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss: spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family?</strong>
|
|
Arch. Neurol. 47: 968-974, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2396938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2396938</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2396938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.1990.00530090038011" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Furtado2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Furtado, S., Farrer, M., Tsuboi, Y., Klimek, M. L., de la Fuente-Fernandez, R., Hussey, J., Lockhart, P., Calne, D. B., Suchowersky, O., Stoessl, A. J., Wszolek, Z. K.
|
|
<strong>SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.</strong>
|
|
Neurology 59: 1625-1627, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12451209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12451209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12451209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000035625.19871.dc" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Geschwind1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Geschwind, D. H., Perlman, S., Figueroa, C. P., Treiman, L. J., Pulst, S. M.
|
|
<strong>The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.</strong>
|
|
Am. J. Hum. Genet. 60: 842-850, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106530</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9106530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Gispert1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gispert, S., Lunkes, A., Santos, N., Orozco, G., Ha-Hao, D., Ratzlaff, T., Aguiar, J., Torrens, I., Heredero, L., Brice, A., Cancel, G., Stevanin, G., and 13 others.
|
|
<strong>Localization of the candidate gene D-amino acid oxidase outside the refined 1-cM region of spinocerebellar ataxia 2. (Letter)</strong>
|
|
Am. J. Hum. Genet. 57: 972-975, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573064" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Gispert1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gispert, S., Twells, R., Orozco, G., Brice, A., Weber, J., Heredero, L., Scheufler, K., Riley, B., Allotey, R., Nothers, C., Hillermann, R., Lunkes, A., and 17 others.
|
|
<strong>Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.</strong>
|
|
Nature Genet. 4: 295-299, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8358438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8358438</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8358438" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0793-295" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Giuffrida1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Giuffrida, S., Saponara, R., Restivo, D. A., Salinaro, A. T., Tomarchio, L., Pugliares, P., Fabbri, G., Maccagnano, C.
|
|
<strong>Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients.</strong>
|
|
J. Neurol. 246: 383-388, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10399871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10399871</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10399871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004150050368" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Glass2022" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Glass, J. D., Dewan, R., Ding, J., Gibbs, J. R., Dalgard, C., Keagle, P. J., Shankaracharya, Garcia-Redondo, A., Traynor, B. J., Chia, R., Landers, J. E.
|
|
<strong>ATXN2 intermediate expansions in amyotrophic lateral sclerosis.</strong>
|
|
Brain 145: 2671-2676, 2022.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35521889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35521889</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35521889[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35521889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/awac167" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Gwinn-Hardy2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gwinn-Hardy, K., Chen, J. Y., Liu, H.-C., Liu, T. Y., Boss, M., Seltzer, W., Adam, A., Singleton, A., Koroshetz, W., Waters, C., Hardy, J., Farrer, M.
|
|
<strong>Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.</strong>
|
|
Neurology 55: 800-805, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10993999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10993999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10993999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.55.6.800" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Harding1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harding, A. E.
|
|
<strong>The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of 'the Drew family of Walworth.'</strong>
|
|
Brain 105: 1-28, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7066668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7066668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7066668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/105.1.1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Harding1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harding, A. E.
|
|
<strong>Classification of the hereditary ataxias and paraplegias.</strong>
|
|
Lancet 321: 1151-1155, 1983. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6133167/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6133167</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6133167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(83)92879-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Hernandez1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hernandez, A., Magarino, C., Gispert, S., Santos, N., Lunkes, A., Orozco, G., Heredero, L., Beckmann, J., Auburger, G.
|
|
<strong>Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1.</strong>
|
|
Genomics 25: 433-435, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7789976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7789976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7789976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(95)80043-l" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Huynh2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huynh, D. P., Figueroa, K., Hoang, N., Pulst, S.-M.
|
|
<strong>Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human.</strong>
|
|
Nature Genet. 26: 44-50, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10973246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10973246</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10973246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/79162" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Ihara1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ihara, T., Sasaki, H., Wakisara, A., Takada, A., Yoshiki, T., Matsuura, T., Hamada, T., Suzuki, Y., Tashiro, K.
|
|
<strong>Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2).</strong>
|
|
Jpn. J. Hum. Genet. 39: 305-313, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7841441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7841441</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7841441" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01874049" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Imbert1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.-M., Weber, C., Mandel, J.-L., Cancel, G., Abbas, N., Durr, A., Didierjean, O., Stevanin, G., Agid, Y., Brice, A.
|
|
<strong>Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.</strong>
|
|
Nature Genet. 14: 285-291, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1196-285" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Kock2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kock, N., Muller, B., Vieregge, P., Pramstaller, P. P., Marder, K., Abbruzzese, G., Martinelli, P., Lang, A. E., Jacobs, H., Hagenah, J., Harris, J., Meija-Santana, H., and 9 others.
|
|
<strong>Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism. (Letter)</strong>
|
|
Ann. Neurol. 52: 257-258, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.10270" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Laffita-Mesa2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Laffita-Mesa, J. M., Bauer, P. O., Kouri, V., Pena Serrano, L., Roskams, J., Almaguer Gotay, D., Montes Brown, J. C., Martinez Rodriguez, P. A., Gonzalez-Zaldivar, Y., Almaguer Mederos, L., Cuello-Almarales, D., Aguiar Santiago, J.
|
|
<strong>Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications.</strong>
|
|
Hum. Genet. 131: 625-638, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22037902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22037902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22037902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-011-1101-y" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Laffita-Mesa2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Laffita-Mesa, J. M., Velazquez-Perez, L. C., Santos Falcon, N., Cruz-Marino, T., Gonzalez Zaldivar, Y., Vazquez Mojena, Y., Almaguer-Gotay, D., Almaguer Mederos, L. E., Rodriguez Labrada, R.
|
|
<strong>Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.</strong>
|
|
Europ. J. Hum. Genet. 20: 41-49, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21934711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21934711</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21934711[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21934711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ejhg.2011.154" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Lazzarini1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lazzarini, A., Zimmerman, T. R., Jr., Johnson, W. G., Duvoisin, R. C.
|
|
<strong>A 17th-century founder gives rise to a large North American pedigree of autosomal dominant spinocerebellar ataxia not linked to the SCA1 locus on chromosome 6.</strong>
|
|
Neurology 42: 2118-2124, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1436521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1436521</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1436521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.42.11.2118" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Lee2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, W. Y., Jin, D. K., Oh, M. R., Lee, J. E., Song, S. M., Lee, E. A., Kim, G., Chung, J. S., Lee, K. H.
|
|
<strong>Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.</strong>
|
|
Arch. Neurol. 60: 858-863, 2003. Note: Erratum: Arch. Neurol. 60: 1256 only, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12810491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12810491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12810491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.60.6.858" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Lopes-Cendes1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lopes-Cendes, I., Andermann, E., Attig, E., Cendes, F., Bosch, S., Wagner, M., Gerstenbrand, F., Andermann, F., Rouleau, G. A.
|
|
<strong>Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.</strong>
|
|
Am. J. Hum. Genet. 54: 774-781, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8178818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8178818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8178818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Lu2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lu, C.-S., Wu Chou, Y.-H., Kuo, P.-C., Chang, H.-C., Weng, Y.-H.
|
|
<strong>The parkinsonian phenotype of spinocerebellar ataxia type 2.</strong>
|
|
Arch. Neurol. 61: 35-38, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14732617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14732617</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14732617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.61.1.35" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Moretti2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Moretti, P., Blazo, M., Garcia, L., Armstrong, D., Lewis, R. A., Roa, B., Scaglia, F.
|
|
<strong>Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.</strong>
|
|
Am. J. Med. Genet. 124A: 392-396, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14735588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14735588</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14735588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.20428" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Orozco Diaz1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Orozco Diaz, G., Nodarse Fleites, A., Cordoves Sagaz, R., Auburger, G.
|
|
<strong>Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba.</strong>
|
|
Neurology 40: 1369-1375, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2392220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2392220</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2392220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.40.9.1369" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Orozco1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Orozco, G., Estrada, R., Perry, T. L., Arana, J., Fernandez, R., Gonzalez-Quevedo, A., Galarraga, J., Hansen, S.
|
|
<strong>Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings.</strong>
|
|
J. Neurol. Sci. 93: 37-50, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2809629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2809629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2809629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0022-510x(89)90159-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Pareyson1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pareyson, D., Gellera, C., Castellotti, B., Antonelli, A., Riggio, M. C., Mazzucchelli, F., Girotti, F., Pietrini, V., Mariotti, C., Di Donato, S.
|
|
<strong>Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes.</strong>
|
|
J. Neurol. 246: 389-393, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10399872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10399872</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10399872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004150050369" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Pogacar1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pogacar, S., Ambler, M., Conklin, W. J., O'Neil, W. A., Lee, H. Y.
|
|
<strong>Dominant spinopontine atrophy: report of two additional members of family W.</strong>
|
|
Arch. Neurol. 35: 156-162, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/629660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">629660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=629660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.1978.00500270038008" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Pulst1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pulst, S.-M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X.-N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., DeJong, P., Rouleau, G. A., Auburger, G., Korenberg, J. R., Figueroa, C., Sahba, S.
|
|
<strong>Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.</strong>
|
|
Nature Genet. 14: 269-276, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896555" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1196-269" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Pulst1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pulst, S.-M., Nechiporuk, A., Starkman, S.
|
|
<strong>Anticipation in spinocerebellar ataxia type 2. (Letter)</strong>
|
|
Nature Genet. 5: 8-10, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220431</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8220431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0993-8c" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Ragothaman2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ragothaman, M., Sarangmath, N., Chaudhary, S., Khare, V., Mittal, U., Sharma, S., Komatireddy, S., Chakrabarti, S., Mukerji, M., Juyal, R. C., Thelma, B. K., Muthane, U. B.
|
|
<strong>Complex phenotypes in an Indian family with homozygous SCA2 mutations.</strong>
|
|
Ann. Neurol. 55: 130-133, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14705123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14705123</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14705123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.10815" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Ranum1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ranum, L. P. W., Rich, S. S., Nance, M. A., Duvick, L. A., Aita, J. F., Orr, H. T., Anton-Johnson, S., Schut, L. J.
|
|
<strong>Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred.</strong>
|
|
Neurology 42: 344-347, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1736163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1736163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1736163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.42.2.344" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Riess1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Riess, O., Laccone, F. A., Gispert, S., Schols, L., Zuhlke, C., Vieira-Saecker, A. M. M., Herlt, S., Wessel, K., Epplen, J. T., Weber, B. H. F., Kreuz, F., Chahrokh-Zadeh, S., and 11 others.
|
|
<strong>SCA2 trinucleotide expansion in German SCA patients.</strong>
|
|
Neurogenetics 1: 59-64, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10735276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10735276</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10735276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s100480050009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Rivaud-Pechoux1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rivaud-Pechoux, S., Durr, A., Gaymard, B., Cancel, G., Ploner, C. J., Agid, Y., Brice, A., Pierrot-Deseilligny, C.
|
|
<strong>Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.</strong>
|
|
Ann. Neurol. 43: 297-302, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9506545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9506545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9506545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410430306" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Ross2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ross, O. A., Rutherford, N. J., Baker, M., Soto-Ortolaza, A. I., Carrasquillo, M. M., DeJesus-Hernandez, M., Adamson, J., Li, M., Volkening, K., Finger, E., Seeley, W. W., Hatanpaa, K. J., and 21 others.
|
|
<strong>Ataxin-2 repeat-length variation and neurodegeneration.</strong>
|
|
Hum. Molec. Genet. 20: 3207-3212, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21610160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21610160</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21610160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddr227" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Rub2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rub, U., Burk, K., Schols, L., Brunt, E. R., de Vos, R. A. I., Orozco Diaz, G., Gierga, K., Ghebremedhin, E., Schultz, C., Del Turco, D., Mittelbronn, M., Auburger, G., Deller, T., Braak, H.
|
|
<strong>Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3.</strong>
|
|
Neurology 63: 1258-1263, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15477548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15477548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15477548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000140498.24112.8c" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Saleem2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Saleem, Q., Choudhry, S., Mukerji, M., Bashyam, L., Padma, M. V., Chakravarthy, A., Maheshwari, M. C., Jain, S., Brahmachari, S. K.
|
|
<strong>Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation.</strong>
|
|
Hum. Genet. 106: 179-187, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10746559/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10746559</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10746559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390051026" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Sanpei1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., Koide, R., Saito, M., and 13 others.
|
|
<strong>Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.</strong>
|
|
Nature Genet. 14: 277-284, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng1196-277" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Schols1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schols, L., Amoiridis, G., Buttner, T., Przuntek, H., Epplen, J. T., Riess, O.
|
|
<strong>Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?</strong>
|
|
Ann. Neurol. 42: 924-932, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9403486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9403486</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9403486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410420615" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Scoles2017" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Scoles, D. R., Meera, P., Schneider, M. D., Paul, S., Dansithong, W., Figueroa, K. P., Hung, G., Rigo, F., Bennett, C. F., Otis, T. S., Pulst, S. M.
|
|
<strong>Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.</strong>
|
|
Nature 544: 362-366, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28405024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28405024</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28405024[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28405024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature22044" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Shan2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shan, D.-E., Soong, B.-W., Sun, C.-M., Lee, S.-J., Liao, K.-K., Liu, R.-S.
|
|
<strong>Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism.</strong>
|
|
Ann. Neurol. 50: 812-815, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761482</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11761482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.10055" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Shan2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shan, D.-E., Soong, B.-W.
|
|
<strong>Reply to letter of Kock et al. (Letter)</strong>
|
|
Ann. Neurol. 52: 258 only, 2002.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Silveira1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Silveira, I., Manaia, A., Melki, J., Magarino, C., Lunkes, A., Hernandez, A., Gispert, S., Burlet, P., Rozet, J.-M., Coutinho, P., Loureiro, J. E. L., Guimaraes, J., Auburger, G., Munnich, A., Sequeiros, J.
|
|
<strong>Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2).</strong>
|
|
Genomics 17: 556-559, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7902323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7902323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7902323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1993.1371" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Sisodia1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sisodia, S. S.
|
|
<strong>Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial?</strong>
|
|
Cell 95: 1-4, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9778239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9778239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9778239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0092-8674(00)81743-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Spadafora2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Spadafora, P., Annesi, G., Liguori, M., Tarantino, P., Cutuli, N., Carrideo, S., Ciro Candiano, I. C., De Marco, E. V., Civitelli, D., Annesi, F., Giuffrida, S., Quattrone, A.
|
|
<strong>Gene dosage influences the age at onset of SCA2 in a family from southern Italy. (Letter)</strong>
|
|
Clin. Genet. 72: 381-383, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17850638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17850638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17850638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.2007.00868.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Spadaro1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Spadaro, M., Giunti, P., Lulli, P., Frontali, M., Jodice, C., Cappellacci, S., Morellini, M., Persichetti, F., Trabace, S., Anastasi, R., Morocutti, C.
|
|
<strong>HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds.</strong>
|
|
Acta Neurol. Scand. 85: 257-265, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1585797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1585797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1585797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1600-0404.1992.tb04041.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Starkman1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Starkman, S., Kaul, S., Fried, J., Behrens, M.
|
|
<strong>Unusual abnormal eye movements in a family with hereditary spinocerebellar degeneration. (Abstract)</strong>
|
|
Neurology 22: 402, 1972.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Storey2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Storey, E., du Sart, D., Shaw, J. H., Lorentzos, P., Kelly, L., Gardner, R. J. M., Forrest, S. M., Biros, I., Nicholson, G. A.
|
|
<strong>Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia.</strong>
|
|
Am. J. Med. Genet. 95: 351-357, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186889</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1096-8628(20001211)95:4<351::aid-ajmg10>3.0.co;2-r" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Takano1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Takano, H., Cancel, G., Ikeuchi, T., Lorenzetti, D., Mawad, R., Stevanin, G., Didierjean, O., Durr, A., Oyake, M., Shimohata, T., Sasaki, R., Koide, R., Igarashi, S., Hayashi, S., Takiyama, Y., Nishizawa, M., Tanaka, H., Zoghbi, H., Brice, A., Tsuji, S.
|
|
<strong>Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.</strong>
|
|
Am. J. Hum. Genet. 63: 1060-1066, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758625</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/302067" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Tan2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tan, R. H., Kril, J. J., McGinley, C., Hassani, M., Masuda-Suzukake, M., Hasegawa, M., Mito, R., Kiernan, M. C., Halliday, G. M.
|
|
<strong>Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions.</strong>
|
|
Ann. Neurol. 79: 295-305, 2016.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26599997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26599997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26599997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.24565" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Trottier1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L., Agid, Y., Brice, A., Mandel, J.-L.
|
|
<strong>Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.</strong>
|
|
Nature 378: 403-406, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477379</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/378403a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="63" class="mim-anchor"></a>
|
|
<a id="Tuin2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tuin, I., Voss, U., Kang, J.-S., Kessler, K., Rub, U., Nolte, D., Lochmuller, H., Tinschert, S., Claus, D., Krakow, K., Pflug, B., Steinmetz, H., Auburger, G.
|
|
<strong>Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2).</strong>
|
|
Neurology 67: 1966-1972, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17159102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17159102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17159102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000247054.90322.14" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="64" class="mim-anchor"></a>
|
|
<a id="Ueyama1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ueyama, H., Kumamoto, T., Nagao, S., Mita, S., Uchino, M., Tsuda, T.
|
|
<strong>Clinical and genetic studies of spinocerebellar ataxia type 2 in Japanese kindreds.</strong>
|
|
Acta Neurol. Scand. 98: 427-432, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9875622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9875622</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9875622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1600-0404.1998.tb07325.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="Van Damme2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Van Damme, P., Veldink, J. H., van Blitterswijk, M., Corveleyn, A., van Vught, P. W. J., Thijs, V., Dubois, B., Matthijs, G., van den Berg, L. H., Robberecht, W.
|
|
<strong>Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.</strong>
|
|
Neurology 76: 2066-2072, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21562247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21562247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21562247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/WNL.0b013e31821f445b" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="van de Warrenburg2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
van de Warrenburg, B. P. C., Hendriks, H., Durr, A., van Zuijlen, M. C. A., Stevanin, G., Camuzat, A., Sinke, R. J., Brice, A., Kremer, B. P. H.
|
|
<strong>Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.</strong>
|
|
Ann. Neurol. 57: 505-512, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15747371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15747371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15747371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.20424" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="67" class="mim-anchor"></a>
|
|
<a id="van de Warrenburg2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
van de Warrenburg, B. P. C., Notermans, N. C., Schelhaas, H. J., van Alfen, N., Sinke, R. J., Knoers, N. V. A. M., Zwarts, M. J., Kremer, B. P. H.
|
|
<strong>Peripheral nerve involvement in spinocerebellar ataxias.</strong>
|
|
Arch. Neurol. 61: 257-261, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14967775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14967775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14967775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.61.2.257" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="68" class="mim-anchor"></a>
|
|
<a id="Velazquez-Perez2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Velazquez-Perez, L., Seifried, C., Santos-Falcon, N., Abele, M., Ziemann, U., Almaguer, L. E., Martinez-Gongora, E., Sanchez-Cruz, G., Canales, N., Perez-Gonzalez, R., Velazquez-Manresa, M., Viebahn, B., von Stuckrad-Barre, S., Fetter, M., Klockgether, T., Auburger, G.
|
|
<strong>Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.</strong>
|
|
Ann. Neurol. 56: 444-447, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15349876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15349876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15349876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.20220" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="69" class="mim-anchor"></a>
|
|
<a id="Vinther-Jensen2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vinther-Jensen, T., Ek, J., Duno, M., Skovby, F., Hjermind, L. E., Nielsen, J. E., Nielsen, T. T.
|
|
<strong>Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.</strong>
|
|
Europ. J. Hum. Genet. 21: 626-629, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23047744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23047744</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23047744[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23047744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ejhg.2012.231" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="70" class="mim-anchor"></a>
|
|
<a id="Vogel2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vogel, A. P., Magee, M., Torres-Vega, R., Medrano-Montero, J., Cyngler, M. P., Kruse, M., Rojas, S., Cubillos, S. C., Canento, T., Maldonado, F., Vazquez-Mojena, Y., Ilg, W., Rodriguez-Labrada, R., Velazquez-Perez, L., Synofzik, M.
|
|
<strong>Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2.</strong>
|
|
Neurology 95: e194-e205, 2020.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32527970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32527970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32527970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/WNL.0000000000009776" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="71" class="mim-anchor"></a>
|
|
<a id="Wadia1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wadia, N. H., Swami, R. K.
|
|
<strong>A new form of heredo-familial spino-cerebellar degeneration with slow eye movements (nine families).</strong>
|
|
Brain 94: 359-374, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5571047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5571047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5571047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/94.2.359" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="72" class="mim-anchor"></a>
|
|
<a id="Wadia1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wadia, N., Pang, J., Desai, J., Mankodi, A., Desai, M., Chamberlain, S.
|
|
<strong>A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees: the significance of slow saccades in diagnosis.</strong>
|
|
Brain 121: 2341-2355, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9874485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9874485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9874485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/121.12.2341" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="73" class="mim-anchor"></a>
|
|
<a id="Watanabe1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Watanabe, H., Tanaka, F., Matsumoto, M., Doyu, M., Ando, T., Mitsuma, T., Sobue, G.
|
|
<strong>Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6.</strong>
|
|
Clin. Genet. 53: 13-19, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9550356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9550356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9550356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.1998.531530104.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="74" class="mim-anchor"></a>
|
|
<a id="Whyte1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Whyte, M. P., Dekaban, A. S.
|
|
<strong>Familial cerebellar degeneration with slow eye-movements, mental deterioration and incidental nevus of Ota (oculo-dermal melanocytosis).</strong>
|
|
Dev. Med. Child. Neurol. 18: 373-380, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/939351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">939351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=939351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1469-8749.1976.tb03660.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="75" class="mim-anchor"></a>
|
|
<a id="Ying2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ying, S. H., Choi, S. I., Perlman, S. L., Baloh, R. W., Zee, D. S., Toga, A. W.
|
|
<strong>Pontine and cerebellar atrophy correlate with clinical disability in SCA2.</strong>
|
|
Neurology 66: 424-426, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16476946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16476946</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16476946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/01.wnl.0000196464.47508.00" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="76" class="mim-anchor"></a>
|
|
<a id="Zhao2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zhao, Y., Tan, E. K., Law, H. Y., Yoon, C. S., Wong, M. C., Ng, I.
|
|
<strong>Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore.</strong>
|
|
Clin. Genet. 62: 478-481, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12485197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12485197</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12485197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.2002.620610.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 01/13/2023
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Sonja A. Rasmussen - updated : 01/13/2023<br>Ada Hamosh - updated : 03/12/2018<br>Cassandra L. Kniffin - updated : 8/12/2013<br>Cassandra L. Kniffin - updated : 9/26/2012<br>Cassandra L. Kniffin - updated : 5/30/2012<br>Cassandra L. Kniffin - updated : 3/19/2012<br>Cassandra L. Kniffin - updated : 10/6/2011<br>Cassandra L. Kniffin - updated : 6/13/2011<br>Ada Hamosh - updated : 9/21/2010<br>Cassandra L. Kniffin - updated : 3/19/2008<br>Cassandra L. Kniffin - updated : 1/8/2008<br>Cassandra L. Kniffin - updated : 11/2/2007<br>Cassandra L. Kniffin - updated : 4/6/2006<br>Cassandra L. Kniffin - updated : 5/18/2005<br>Cassandra L. Kniffin - updated : 4/19/2005<br>Cassandra L. Kniffin - updated : 12/29/2004<br>Cassandra L. Kniffin - updated : 5/25/2004<br>Cassandra L. Kniffin - updated : 5/20/2004<br>Cassandra L. Kniffin - updated : 8/7/2003<br>Victor A. McKusick - updated : 12/26/2002<br>Cassandra L. Kniffin - updated : 10/24/2002<br>Cassandra L. Kniffin - reorganized : 9/13/2002<br>Kathryn R. Wagner - updated : 3/13/2001<br>Sonja A. Rasmussen - updated : 1/9/2001<br>Victor A. McKusick - updated : 3/8/2000<br>Victor A. McKusick - updated : 9/22/1999<br>Victor A. McKusick - updated : 9/22/1999<br>Wilson H. Y. Lo - updated : 8/10/1999<br>Ada Hamosh - updated : 5/11/1999<br>Victor A. McKusick - updated : 8/6/1998<br>Victor A. McKusick - updated : 3/27/1998<br>Victor A. McKusick - updated : 9/5/1997<br>Victor A. McKusick - updated : 6/12/1997<br>Moyra Smith - updated : 11/20/1996<br>Orest Hurko - updated : 3/7/1996
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 1/19/1993
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
mgross : 04/18/2024
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 08/18/2023<br>carol : 01/13/2023<br>carol : 01/13/2023<br>alopez : 07/12/2022<br>carol : 03/11/2022<br>alopez : 05/21/2018<br>carol : 03/13/2018<br>alopez : 03/12/2018<br>alopez : 10/12/2016<br>mcolton : 02/21/2014<br>carol : 8/15/2013<br>ckniffin : 8/12/2013<br>alopez : 10/1/2012<br>ckniffin : 9/26/2012<br>carol : 5/31/2012<br>ckniffin : 5/30/2012<br>carol : 5/30/2012<br>ckniffin : 3/19/2012<br>carol : 10/13/2011<br>terry : 10/12/2011<br>ckniffin : 10/6/2011<br>alopez : 9/22/2011<br>wwang : 6/21/2011<br>ckniffin : 6/13/2011<br>ckniffin : 5/5/2011<br>ckniffin : 11/16/2010<br>alopez : 9/21/2010<br>alopez : 9/21/2010<br>carol : 5/25/2010<br>carol : 9/15/2009<br>terry : 2/9/2009<br>mgross : 10/21/2008<br>wwang : 3/31/2008<br>ckniffin : 3/19/2008<br>wwang : 1/28/2008<br>ckniffin : 1/8/2008<br>wwang : 11/13/2007<br>ckniffin : 11/2/2007<br>joanna : 6/27/2006<br>wwang : 4/11/2006<br>ckniffin : 4/6/2006<br>ckniffin : 9/21/2005<br>wwang : 6/1/2005<br>wwang : 5/26/2005<br>ckniffin : 5/18/2005<br>tkritzer : 5/9/2005<br>ckniffin : 4/19/2005<br>terry : 2/22/2005<br>tkritzer : 1/20/2005<br>ckniffin : 12/29/2004<br>tkritzer : 11/9/2004<br>tkritzer : 6/23/2004<br>ckniffin : 6/14/2004<br>tkritzer : 5/28/2004<br>tkritzer : 5/27/2004<br>ckniffin : 5/25/2004<br>ckniffin : 5/20/2004<br>tkritzer : 1/28/2004<br>ckniffin : 1/21/2004<br>tkritzer : 8/13/2003<br>ckniffin : 8/7/2003<br>carol : 2/24/2003<br>ckniffin : 2/13/2003<br>terry : 12/26/2002<br>carol : 11/13/2002<br>ckniffin : 10/24/2002<br>carol : 9/13/2002<br>ckniffin : 9/13/2002<br>ckniffin : 9/11/2002<br>ckniffin : 8/28/2002<br>ckniffin : 6/21/2002<br>carol : 3/29/2001<br>carol : 3/13/2001<br>mcapotos : 1/9/2001<br>mcapotos : 4/7/2000<br>mcapotos : 4/6/2000<br>terry : 3/8/2000<br>mgross : 9/22/1999<br>mgross : 9/22/1999<br>carol : 8/10/1999<br>alopez : 5/17/1999<br>terry : 5/11/1999<br>terry : 8/7/1998<br>terry : 8/6/1998<br>carol : 5/19/1998<br>terry : 4/7/1998<br>alopez : 3/27/1998<br>terry : 3/25/1998<br>terry : 9/12/1997<br>terry : 9/5/1997<br>mark : 6/16/1997<br>terry : 6/12/1997<br>terry : 12/4/1996<br>mark : 11/20/1996<br>terry : 11/20/1996<br>mark : 11/19/1996<br>terry : 4/15/1996<br>mark : 3/7/1996<br>terry : 2/23/1996<br>mimadm : 5/10/1995<br>mark : 3/28/1995<br>carol : 2/2/1995<br>jason : 7/25/1994<br>carol : 9/23/1993<br>carol : 9/10/1993
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>#</strong> 183090
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
SPINOCEREBELLAR ATAXIA 2; SCA2
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SPINOCEREBELLAR ATROPHY II<br />
|
|
OLIVOPONTOCEREBELLAR ATROPHY, HOLGUIN TYPE<br />
|
|
OLIVOPONTOCEREBELLAR ATROPHY II; OPCA2<br />
|
|
SPINOCEREBELLAR ATAXIA, CUBAN TYPE<br />
|
|
CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS<br />
|
|
WADIA-SWAMI SYNDROME<br />
|
|
SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13, INCLUDED; ALS13, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 715751004;
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 98756;
|
|
|
|
|
|
<strong>DO:</strong> 0050955;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
12q24.12
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Spinocerebellar ataxia 2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
183090
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ATXN2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
601517
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
12q24.12
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
{Amyotrophic lateral sclerosis, susceptibility to, 13}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
183090
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ATXN2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
601517
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because spinocerebellar ataxia-2 (SCA2) is caused by an expanded (CAG)n trinucleotide repeat in the gene encoding ataxin-2 (ATXN2; 601517). Unaffected individuals have 13 to 31 CAG repeats, whereas affected individuals have 32 to 79 repeats, with some in the range of 500 repeats (summary by Almaguer-Mederos et al., 2010). </p><p>There is also an association between 29 or more CAG repeats and the development of amyotrophic lateral sclerosis-13 (ALS13). For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (164400), SCA2, and SCA3, or Machado-Joseph disease (109150). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. </p><p>For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Boller and Segarra (1969) reported the clinical and postmortem findings in a father (E.W.) and son (R.W.) with adult-onset ataxia. The pedigree of the 'W' family, extending through 5 generations, indicated autosomal dominant inheritance. Pogacar et al. (1978) reported 2 additional affected members of the family, R.W.'s daughter (S.W.), and a third cousin who was studied postmortem. Boller and Segarra (1969) had described the condition under the designation 'spinopontine degeneration.' When the family (of Anglo-Saxon extraction living in northern Rhode Island for over 300 years) was followed up by Pogacar et al. (1978), they questioned the separation from olivopontocerebellar ataxia (OPCA), because they found abolished tendon reflexes and flexion contractures of the legs in 1 patient, and onset at 18 years of age, palatal myoclonus, and optic atrophy in the second. Dementia developed in both. Pathologic findings, in contrast to earlier reports, showed involvement of the cerebellum and inferior olivary nuclei. Lazzarini et al. (1992) encountered a large, previously unreported branch of the 'W' family that shared a common ancestor 8 generations removed from the patients reported by Boller and Segarra (1969). Although phenotypically the disorder was similar to that in families with spinocerebellar ataxia-1, the disorder was not linked to HLA on chromosome 6p. </p><p>Wadia and Swami (1971) reported the association of spinocerebellar degeneration and abnormal eye movements, specifically, absent rapid saccades and abnormally slow tracking. They described 37 patients in 12 families in India. Some of the patients were 'mentally backward.' Starkman et al. (1972) described the syndrome in a U.S. family. Whyte and Dekaban (1976) described a family with cerebellar degeneration and slow pursuit without nystagmus. Age at onset ranged from 10 to 31 years with earlier onset in successive generations, and a rapidly progressive course. Three individuals showed progressive mental deterioration. The proband had nevus of Ota, which was considered to be unrelated. Whyte and Dekaban (1976) suggested that the eye signs were due to a brainstem lesion of the paramedian pontine reticular formation. They noted that it may be the most frequent form of spinocerebellar degeneration in India. See 271322 for a possible recessive form of the Wadia-Swami syndrome. </p><p>Wadia et al. (1998) reported reevaluation and genetic analysis of 6 Indian pedigrees with autosomal dominant spinocerebellar ataxia, some of whom had been reported by Wadia and Swami (1971). Genetic analysis confirmed SCA2. Saccadic velocity was reduced even in early stages of the disease, and the authors emphasized that it was an important diagnostic feature. </p><p>Eto et al. (1990) described a family of German extraction with progressive ataxia, eye movement abnormalities, peripheral sensory loss, and spinal muscular atrophy of adult onset. The pedigree pattern in 4 generations was consistent with autosomal dominant inheritance. Eto et al. (1990) suggested that the form of spinopontine atrophy might be different from Machado-Joseph disease (SCA3): the eyes were not protuberant, extraocular movements were abnormal to a minor degree, and neuropathologically the substantia nigra and dentate nucleus were spared. Eto et al. (1990) considered their family to resemble most that reported by Boller and Segarra (1969). </p><p>Bale et al. (1987) studied a 3-generation kindred in which several persons had dominantly inherited spinopontine atrophy. Linkage analysis gave negative lod scores with both HLA and GLO1. Bale et al. (1987) also reviewed 4 published kindreds with adequate clinical and neuropathologic descriptions in addition to HLA linkage studies. Persons in the 3 families showing evidence for HLA linkage had clinical and pathologic changes consistent with OPCA type 1. The conditions in the 2 'unlinked' families were phenotypically distinct with respect to extraocular movements and peripheral sensory nervous system signs. They differed markedly from each other in neuropathologic changes. </p><p>Auburger et al. (1990) could find no evidence of linkage to HLA in over 100 affected members of a Cuban kindred of Spanish ancestry, first reported by Orozco et al. (1989). The diagnosis of spinocerebellar ataxia was confirmed at autopsy in 11 cases. Points of differentiation from Machado-Joseph disease (SCA3), including absence of the limitation of upward gaze, were outlined. The origins of the family group in Spain could not be traced. Age of onset varied from 2 to 65 years, with 40% of patients presenting before 25 years of age. Optic atrophy, retinopathy, dementia, spasticity, and rigidity were not part of the phenotype. Auburger et al. (1990) stated that 'the 300 patients already receiving medical attention constitute a severe problem for the regional health authorities in Holguin.' </p><p>Spadaro et al. (1992) were unable to demonstrate linkage to HLA on chromosome 6 in 3 of 5 Italian families with late-onset autosomal dominant SCA. They reported clinical studies of 26 patients and neuropathologic study of 1. The disease was characterized by cerebellar and pyramidal involvement, variably associated with cranial nerve and peripheral nervous system disorders. MRI of a 53-year-old man with symptoms for 7 years showed marked atrophy of the cerebellar hemispheres and vermis as well as of the pons and medulla oblongata. </p><p>Ueyama et al. (1998) studied 2 Japanese kindreds with spinocerebellar ataxia-2, for a total of 25 patients, 19 patients in 1 family and 6 patients in the other. Thirteen patients were fully evaluated, including a neurologic evaluation. The mean age of onset of symptoms was 43.5 years. The most common neurologic finding was cerebellar ataxia with deep sensory disturbance. Slow saccades were found only in patients younger than age 35 years. Brain MRI showed pontocerebellar atrophy, and PCR analysis showed that all patients had an expanded CAG allele in the ataxin-2 gene. </p><p>Schols et al. (1997) compared clinical, electrophysiologic, and MRI findings to identify phenotypic characteristics of genetically defined SCA subtypes. Slow saccades, hyporeflexia, myoclonus, and action tremor suggested SCA2. SCA3 patients frequently developed diplopia, severe spasticity or pronounced peripheral neuropathy, and impaired temperature discrimination, apart from ataxia. SCA6 (183086) presented with a predominantly cerebellar syndrome, and patients often had onset after 55 years of age. SCA1 was characterized by markedly prolonged peripheral and central motor conduction times in motor evoked potentials. MRI scans showed pontine and cerebellar atrophy in SCA1 and SCA2. In SCA3, enlargement of the fourth ventricle was the main sequel of atrophy. SCA6 presented with pure cerebellar atrophy on MRI. Overlap between the 4 SCA subtypes was broad, however. </p><p>Giuffrida et al. (1999) performed brain MRI on 20 SCA2 patients, from 11 Sicilian families, and 20 age-matched control subjects. The findings confirmed that olivopontocerebellar atrophy is a typical pattern in SCA2. No significant correlation was found between infratentorial atrophy, disease duration, or the number of CAG repeats, but there was a significant correlation between supratentorial atrophy, which was found in 12 patients, and disease duration. OPCA appeared to represent the 'core' abnormality of SCA2; however, central nervous system involvement was not limited to pontocerebellar structures. Giuffrida et al. (1999) concluded that central nervous system degeneration in SCA2 is a widespread atrophy. </p><p>In 19 of 27 (70%) patients with confirmed SCA types 1, 2, 3, 6, or 7 (164500), van de Warrenburg et al. (2004) found electrophysiologic evidence of peripheral nerve involvement. Eight patients (30%) had findings compatible with a dying-back axonopathy, whereas 11 patients (40%) had findings consistent with a primary neuronopathy involving dorsal root ganglion and/or anterior horn cells; the 2 types were clinically almost indistinguishable. All 3 patients with SCA2 had a neuronopathy. </p><p>Velazquez-Perez et al. (2004) found that maximal horizontal saccade velocity (MSV) was significantly decreased in 82 SCA2 patients compared to controls (60-degree MSV range of 17 to 464 degrees per second and 277 to 678 degree per second, respectively). MSV was negatively correlated with polyglutamine expansion size and ataxia score; ataxia score was positively correlated with disease duration, and less so with polyglutamine expansion. Slowing of MSV was detected as early as 1 year after onset of ataxia. Velazquez-Perez et al. (2004) concluded that MSV is a sensitive and specific endophenotype useful for the identification of modifier genes in SCA2. </p><p>Using high-resolution volumetric MRI to examine 8 SCA2 patients, Ying et al. (2006) found a significant correlation between region-specific cerebellar and pontine atrophy and a global measure of clinical dysfunction. Atrophy was also highly correlated with disease duration. </p><p>Vogel et al. (2020) performed a comprehensive study of speech and swallowing function in 30 individuals with SCA2 (16 who were pre-ataxic and 14 with early-stage ataxia) compared to 16 healthy controls. Changes in speech were identified in pre-ataxic patients, with a subtle speech phenotype characterized by an absence of overt dysarthria, but distinct changes in speech timing with reduced rate and consistency of production during syllable repetition tasks. These results show that patients manifest early changes in motor function that precede ataxia symptoms, likely due to early cerebellar dysfunction. In patients with early-phase ataxia, speech was dysarthric with short phrases, irregular articulatory breakdowns, and reduced speech agility and speech rate, resulting in decreased intelligibility. Reduced speech agility and speech rate correlated with disease severity and time to ataxia onset. Dysphagia was seen in both categories of patients (pre-ataxic and early ataxic), with more than half of pre-ataxic patients having moderate swallowing impairment and 37% of ataxic patients having signs of moderate to severe dysphagia. However, no association was seen between ataxia severity and degree of dysphagia. </p><p><strong><em>Oculomotor Abnormalities</em></strong></p><p>
|
|
Among 65 patients with SCA1, SCA2, or SCA3, Burk et al. (1996) found reduced saccade velocity in 56%, 100%, and 30% of patients, respectively. MRI showed severe olivopontocerebellar atrophy in SCA2, similar but milder changes in SCA1, and very mild atrophy with sparing of the olives in SCA3. Careful examination of 3 major criteria of eye movements, saccade amplitude, saccade velocity, and presence of gaze-evoked nystagmus, permitted Rivaud-Pechoux et al. (1998) to assign over 90% of patients with SCA1, SCA2, or SCA3 to their genetically confirmed patient group. In SCA1, saccade amplitude was significantly increased, resulting in hypermetria. In SCA2, saccade velocity was markedly decreased. In SCA3, the most characteristic finding was the presence of gaze-evoked nystagmus. </p><p>In an investigation of oculomotor function, Buttner et al. (1998) found that all 3 patients with SCA1, all 7 patients with SCA3, and all 5 patients with SCA6 had gaze-evoked nystagmus. Three of 5 patients with SCA2 did not have gaze-evoked nystagmus, perhaps because they could not generate corrective fast components. Rebound nystagmus occurred in all SCA3 patients, 33% of SCA1 patients, 40% of SCA6 patients, and none of SCA2. Spontaneous downbeat nystagmus only occurred in SCA6. Peak saccade velocity was decreased in 100% of patients with SCA2, 1 patient with SCA1, and no patients with SCA3 or SCA6. Saccade hypermetria was found in all types, but was most common in SCA3. Burk et al. (1999) found that gaze-evoked nystagmus was not associated with SCA2. However, severe saccade slowing was highly characteristic of SCA2. Saccade velocity in SCA3 was normal to mildly reduced. The gain in vestibuloocular reflex was significantly impaired in SCA3 and SCA1. Eye movement disorders of SCA1 overlapped with both SCA2 and SCA3. </p><p>The reticulotegmental nucleus of the pons (RTTG), also known as the nucleus of Bechterew, is a precerebellar nucleus important in the premotor oculomotor circuits crucial for the accuracy of horizontal saccades and the generation of horizontal smooth pursuit. By postmortem examination, Rub et al. (2004) identified neuronal loss and astrogliosis in the RTTG in 1 of 2 SCA1 patients, 2 of 4 SCA2 patients, and 4 of 4 SCA3 patients that correlated with clinical findings of hypometric saccades and slowed and saccadic smooth pursuits. The 3 patients without these specific oculomotor findings had intact RTTG regions. The authors concluded that the neurodegeneration associated with SCA1, SCA2, and SCA3 affects premotor networks in addition to motor nuclei in a subset of patients. </p><p><strong><em>Infantile Onset</em></strong></p><p>
|
|
Babovic-Vuksanovic et al. (1998) reported an infant who presented with neonatal hypotonia, developmental delay, and dysphagia. Ocular findings of retinitis pigmentosa (RP) were noted at 10 months of age. Her father had mild SCA2 first noted at 22 years of age. Molecular studies showed that the father had a SCA2 CAG repeat expansion of 43 repeats, whereas the baby had an extreme expansion of more than 200 repeats. Babovic-Vuksanovic et al. (1998) noted the variable phenotype and genotype of SCA2. </p><p>Moretti et al. (2004) reported a Mexican-American child who developed abnormal eye movements at 2 months of age. Motor and language development were delayed. At age 6 years, poor coordination, arm tremor, and cognitive deficits were noted. The clinical course slowly progressed, and he had difficulty walking, incontinence, drooling, and worsening tremor by age 9 years. MRI showed cerebellar atrophy and mild cerebral atrophy, and mutation analysis identified a 62 CAG repeat expansion of the ATXN2 gene. Moretti et al. (2004) emphasized that SCA2 can have rare infantile or childhood onset, that earlier onset is associated with a higher number of CAG repeats, and that the SCA2 phenotype is clinically heterogeneous. </p><p>Vinther-Jensen et al. (2013) reported a family in which a father was diagnosed with SCA2 at age 49 years, after which it was discovered that his daughter, who had died 13 years earlier of multiorgan failure at age 19 months, had had infantile-onset SCA2. The father presented with classic adult-onset progressive SCA2, including gait ataxia, imbalance, dysarthria, fasciculations, abnormal saccades, and mild cognitive impairment. Brain MRI showed cerebellar atrophy. The daughter presented at age 3 months with delayed motor development, myoclonic jerks, and visual impairment. She later showed uncoordinated eye movements, pallor of the optic nerves, dystrophic retinas, poor head control, hypotonia, and dyskinetic movements. Molecular genetic analysis showed that the father carried an expanded ATXN2 allele of 45 CAG repeats, and the daughter carried an expanded allele of 124 repeats inherited from the father. Analysis of the father's spermatozoa showed that 4 (22%) had an expansion beyond the 45 CAG repeats detected in somatic cells, including 2 with repeat lengths of at least 92 and 116, respectively. Study of spermatozoa from another man with SCA2 showed similar meiotic instability of the expanded repeat allele. Vinther-Jensen et al. (2013) suggested that meiotic instability may be a general feature of SCA2, and noted that rare genetic disorders should be considered during diagnosis of infants and children even without a family history of a neurodegenerative disorder. </p><p><strong><em>Parkinsonian Phenotype</em></strong></p><p>
|
|
Gwinn-Hardy et al. (2000) described 4 patients from a Chinese kindred with parkinsonian features and CAG expansions at the SCA2 locus. The youngest patient had findings typical for the SCA2 ataxic phenotype with decreased saccadic velocity, limb and truncal ataxia, and a subclinical sensory neuropathy, but also had parkinsonian features such as markedly reduced blink rate, bradykinesia, and asymmetry. His SCA2 CAG repeat length was 43. Three patients from earlier generations had mildly elevated CAG repeat lengths of 33 to 36 with varying phenotypes, but all predominantly parkinsonian features, including masked facies, diminished blink rate, and bradykinesia in addition to mild cerebellar findings such as broad-based gait. Two benefited from carbidopa-levodopa therapy, reminiscent of typical late-onset Parkinson disease (PD; 168600). The third patient, with a phenotype reminiscent of progressive supranuclear palsy, did not show a response to treatment. None of the patients had cognitive disturbance or resting tremor. The authors suggested that some cases of familial parkinsonism may be due to SCA2 mutations. </p><p>Among 23 Chinese patients with familial parkinsonism, Shan et al. (2001) identified 2 patients who had expanded trinucleotide repeats (mildly elevated at 36 and 37 repeats) in the ATXN2 gene. Both patients had onset of leg tremor at age 50 years, followed by gait difficulty, rigidity, and slow, hypometric saccades. L-DOPA produced marked improvement in symptoms in both patients. In addition, PET scan showed reduced dopamine distribution in the caudate and putamen in both patients. Shan et al. (2001) noted that these 2 patients represented approximately one-tenth of their population with familial parkinsonism. </p><p>In commenting on the paper by Shan et al. (2001), Kock et al. (2002) stated that in a study of 270 unrelated patients of mixed ethnic background with dopa-responsive parkinsonism, including 64 cases of early onset (age of onset less than 50 years) with a family history, 174 cases of early onset with no family history, and 32 cases of late onset with a family history, they found no expanded SCA2 alleles. Parkin (PARK2; 602544) mutations were found in 31 (18%) of 173 screened early-onset patients. In a reply, Shan and Soong (2002) suggested that SCA2-related parkinsonism is more likely to be found in late-onset cases, which tend to have lower numbers of repeats, and likely accounts for no more than one-tenth of familial parkinsonism. </p><p>Furtado et al. (2002) reported a family in which 10 members over 5 generations were affected with dopa-responsive parkinsonism, without cerebellar abnormalities, transmitted in an autosomal dominant pattern. Average age of onset was 59 years (range, 31 to 86). Three patients exhibited dystonia. Genetic analysis showed identical expanded repeats for SCA2 in all affected individuals tested (22 and 39 repeats on each allele), which were stable between generations despite a clinical suggestion of anticipation. Furtado et al. (2002) emphasized that the genetic findings were unexpected because the family's presentation was consistent with typical cases of Parkinson disease (168600). </p><p>Lu et al. (2004) stated that the normal range of SCA2 CAG repeats is 14 to 31, and that it ranges from 34 to more than 200 in affected patients. A range of 32 to 33 repeats is considered indeterminate. In 7 Taiwanese patients from 4 families with parkinsonism (representing approximately 10% of the initial group), Lu et al. (2004) found expanded CAG repeats in the ATXN2 gene. The phenotype was characterized by tremor, rigidity, and bradykinesia, and response to L-DOPA. A control group of 8 patients from 6 families had the ataxic SCA2 phenotype, characterized by cerebellar gait, slow saccades, ataxic dysarthria, hypotonia, and tendency to fall, without any parkinsonian features. Patients with the parkinsonism phenotype had an older mean age at onset (45.8 years) and shorter CAG repeats (36.2 repeats) compared to those with the ataxic phenotype (26.9 years) caused by SCA2 repeats (43.1 repeats). Lu et al. (2004) noted that there were a few overlapping features between the 2 groups, including dysarthria and postural instability, but emphasized the otherwise clear phenotypic distinction. </p><p>Ragothaman et al. (2004) reported a consanguineous Indian family with SCA2 expansions and a complex phenotype comprising ataxia, parkinsonism, and retinitis pigmentosa, either in isolation or in combination. Two patients with homozygous SCA2 repeat expansions (35 to 39 repeats) presented with dopa-responsive parkinsonism, including tremor, rigidity, and bradykinesia. Age at onset was 15 and 22 years. Twelve other family members who were heterozygous for SCA2 repeat expansions had isolated late-onset parkinsonism (2 patients), late-onset parkinsonism and ataxia (1 patient), isolated ataxia (6 patients), ataxia and RP (2 patients), and isolated RP (1 patient). Approximately 38% of family members with expanded SCA2 repeats were asymptomatic. </p><p>Charles et al. (2007) found that 3 (2%) of 164 French families with autosomal dominant parkinsonism had SCA2 expansions ranging in size from 37 to 39 repeats that were interrupted by CAA triplets. These interrupted expansions were stable in transmission. All 9 patients had levodopa-responsive parkinsonism without cerebellar signs and had less rigidity and more symmetric signs compared to patients with other causes of PD. Two sisters with both the SCA2 expansion and the LRRK2 mutation G2019S (609007.0006) had earlier onset that their mother who had only the SCA2 expansion, suggesting an additive pathogenic effect in the sisters. As a phenotypic comparison, 53 SCA2 patients with similar-sized, uninterrupted SCA2 repeats showed predominant cerebellar ataxia with rare signs of parkinsonism. The findings suggested that the configuration of SCA2 repeat expansions plays an important role in phenotypic variability. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Other Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By polysomnography of 8 patients from 5 families with SCA2, Tuin et al. (2006) observed evidence of REM sleep behavior disorder. Patient age ranged from 14 to 55 years; disease duration ranged from 3 to 31 years. Clinically, almost all patients reported good subjective sleep quality. Four patients with early disease stage showed REM without atonia accompanied by a consistent reduction of REM density. Three patients with later stage disease had undetectable REM sleep, whereas slow wave sleep was increased at the cost of light sleep. In addition, patients showed a progressive loss of dream recall that correlated with stages of REM and theoretically corresponded to progressive brain atrophy from the pons, nigrostriatal projection, and locus ceruleus to the thalamus. </p><p>There is a wide range in the age at onset of SCA2, both between and within families, and several studies have shown a strong inverse correlation between the size of the (CAG)n repeat and the age of onset of SCA2 symptoms (Sanpei et al., 1996; Imbert et al., 1996). Almaguer-Mederos et al. (2010) analyzed a large group of 924 Cuban individuals, including 394 presymptomatic and 530 affected individuals with 32 to 79 CAG repeats. There was a highly significant negative linear relation between mean age at onset and CAG repeat number. There was a significant increase in the probability of manifesting disease for a given age as the CAG repeat number increased from 34 to 45 units. Cumulative probability curves for disease manifestation at a particular age for each CAG repeat length in the 34 to 45 unit range were significantly different for each studied CAG repeat number, stressing the importance of expanded allele CAG repeat number as the principal factor in determining age at onset in SCA2. Overall, the mean age at onset diminished by 4.15 +/- 3.45 years for each increase in the CAG repeat number. </p><p>Tan et al. (2016) evaluated cerebellar neuronal loss in brain specimens from 24 patients with classic ALS (8 with C9ORF72 (614260) repeat expansions, 3 with intermediate (29-32) polyQ repeats in ATXN2, and 13 sporadic cases), 5 patients with progressive muscular atrophy (PMA), and 10 controls. Significant Purkinje cell loss was demonstrated in the cerebellar vermis of patients with intermediate polyQ expansions in ATXN2; conversely, no neuronal loss was observed in the cerebellar vermis in patients with C9ORF72 expansions, sporadic ALS, or sporadic PMA. Dipeptide immunoreactive neuronal inclusions were seen in the vermis and lateral cerebellar hemispheres in patients with only C9ORF72 expansions. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>SCA2 is most often transmitted in an autosomal dominant pattern of inheritance, and genetic anticipation is observed (Pulst et al., 1996). However, rare patients with homozygous ATXN2 repeat expansions have been reported (Ragothaman et al., 2004). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a Nebraska kindred with 33 affected members, of whom 12 were living, Ranum et al. (1992) excluded linkage to the highly informative GT-repeat marker D6S89, which had been located on 6p and found to be closely linked to the SCA1 locus in 5 other large kindreds. They excluded linkage to this marker for moderate to tight linkage, less than 11% recombination. The disorder was clinically indistinguishable from that in the linked kindreds. The clinical features were also identical to those in the Cuban family described by Orozco Diaz et al. (1990). </p><p>Gispert et al. (1993) found that in the large Cuban (Holguin) kindred that failed to show linkage to chromosome 6 markers, the locus, designated SCA2, could be assigned to 12q23-q24.1 by linkage analysis. Probable flanking markers were D12S58 and phospholipase A2 (PLA2A; 172410). Hernandez et al. (1995) performed further studies on 11 large pedigrees from the Holguin SCA2 family collective. Three-point analysis localized the SCA2 mutation within the 6-cM interval between D12S84 and D12S79. The microsatellite D12S105 within that interval showed a peak 2-point lod score 16.14 at theta = 0.00, as well as complete linkage disequilibrium among affected individuals. A common disease haplotype was found in all family ancestors, supporting an SCA2 founder effect in Holguin. Investigation of linkage to the interval containing SCA2 in 7 French autosomal dominant SCA families, previously excluded from linkage to SCA1, provided preliminary data suggesting the existence of a third locus, SCA3 (607047). In 2 kindreds, 1 Austrian-Canadian and 1 French-Canadian, Lopes-Cendes et al. (1994) found that an autosomal dominant form of SCA could be mapped within a region of approximately 16 cM between the microsatellite markers D12S58 and D12S84/D12S105. Silveira et al. (1993) found that Machado-Joseph disease is not linked to the phenylalanine hydroxylase locus (PAH; 612349) on chromosome 12q; MJD was subsequently mapped to chromosome 14. </p><p>Gispert et al. (1995) reported that complete allelic association was established with the microsatellite marker D12S105. The D12S105 sequence, including 342 basepairs representing the region of maximal allelic association in the Cuban SCA2 founder effect, was subjected to sequence homology analysis at the European Molecular Biology Laboratories database and yielded an almost perfect match (99.7% similarity) with intron 1 of the human D-amino acid oxidase gene (DAO; 124050), which had previously been shown to be linked to all SCA2 pedigrees worldwide with no recombination (Hernandez et al., 1995). The small sequence differences were the result of length variations in the 4 primitive repeat motifs contained in this intron. The authors stated that a mutation in the DAO gene could fit well with previous hypotheses on the pathologic mechanism of spinocerebellar degeneration, since oral loading tests with glutamate in such patients have demonstrated a decreased metabolism of glutamic acid and aspartic acid, and since accumulation of the excitotoxic neurotransmitter glutamate is known to lead to cerebellar Purkinje neuron death. However, Gispert et al. (1995) found recombinants between SCA2 and a second microsatellite marker within intron 1 of the DAO gene. These and other recombination data of Gispert et al. (1995) excluded the DAO gene from the SCA2 region. </p><p>Belal et al. (1994) described an affected Tunisian family that showed linkage to the SCA2 locus. Multipoint linkage analysis, including markers D12S78, D12S79, and D12S105, generated a peak lod score of 3.46 at the D12S105 locus. By this analysis the SCA2 gene was localized to a 12.8-cM interval between D12S78 and D12S79. The members of the Tunisian pedigree exhibited progressive cerebellar ataxia and dysarthria with or without ophthalmoplegia, optic atrophy, pyramidal signs, sensory loss, dementia, or extrapyramidal features. Extrapyramidal signs were found in 23% of the Tunisians but in none of the Cubans. Ihara et al. (1994) identified Japanese families with OPCA showing linkage to a 6.2-cM interval between IGF1 (147440) and D12S84/D12S85 on chromosome 12. </p><p>Pulst et al. (1993) identified a pedigree with linkage to 12q and established closer flanking markers for SCA2 than had been achieved in the Cuban pedigree. The second family was of southern Italian descent and showed segregation for SCA in 5 generations. All affected persons showed marked appendicular and gait ataxia as well as slow saccadic eye movements (Starkman et al., 1972). Mean age of onset in 19 affecteds was 26.9 +/- 12.5. Anticipation was demonstrated in this family; in 14 of 15 parent-child pairs, onset of the disease in the offspring occurred earlier than in the parent by 14.4 +/- 7.9 years. Pulst et al. (1993) suggested that this indicates that an expanded triplet repeat underlies SCA2 as it does in SCA1. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Pathogenesis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using a monoclonal antibody that recognizes expanded polyglutamine stretches in TATA box-binding protein (600075), mutant huntingtin (613004), mutant ataxin-1 (164400), and glutamine expanded proteins in patients with SCA3 (109150), Trottier et al. (1995) used Western blotting to detect a 150-kD protein in a patient with SCA2, but not his normal relative. By analogy to other disorders associated with anticipation in expanded triplet repeats, they suggested that this may be the protein encoded by the mutant gene responsible for this disorder. </p><p>Proteins with long polyQ tracts have an increased tendency to aggregate, often as truncated fragments forming ubiquitinated intranuclear inclusion bodies. In SCA2 brains, Huynh et al. (2000) found cytoplasmic, but not nuclear, microaggregates. Mice expressing ataxin-2 with Q58 (58 CAG repeats) showed progressive functional deficits accompanied by loss of the Purkinje cell dendritic arbor and finally loss of Purkinje cells. Despite similar functional deficits and anatomic changes observed in ataxin-1(Q80) transgenic lines, ataxin-2(Q58) remained cytoplasmic without detectable ubiquitination. </p><p>Sisodia (1998) reviewed the significance of nuclear inclusions in glutamine repeat disorders. </p><p>The ATXN2 promoter is located exon 1 of the ATXN2 gene in a typical CpG island devoid of a TATA box and is usually partially methylated. Using a methyl-specific PCR protocol, Laffita-Mesa et al. (2012) found differences in the methylation levels of the ATXN2 promoter in a family in which anticipation was observed without CAG repeat expansion. Specifically, the promoter was hypomethylated in an affected son with earlier onset of SCA2 compared to that of his affected mother with later onset of the disorder, even though both patients carried CAG expansions of 39 repeats on the pathogenic allele. In 9 SCA2 patients, quantitative analysis indicated that hypermethylation at the promoter, leading to partial or complete epigenetic silencing, was associated with longer expansions of the ATXN2 repeat and that alleles with pathogenic CAG expansions were preferentially hypermethylated. These findings may represent part of the cellular defense mechanism to reduce the burden of cytotoxic mutant ATXN2. Study of 2 patients with homozygous expansions of 43 and 39 CAG repeats, respectively, found an association between hypermethylation at the ATXN2 promoter and delayed age at onset. SCA3 (109150) is caused by a similar CAG repeat expansion in the ATXN3 gene (607047), which is closely connected to ATXN2. Laffita-Mesa et al. (2012) also found that hypermethylation at the ATXN2 promoter was associated with lower age of onset of SCA3, although methylation at the ATXN3 promoter had no effect on age at onset of SCA3. These findings suggested that the development of SCA3 may involve physiologic functions of ATXN2. Overall, the report of Laffita-Mesa et al. (2012) showed that methylation of the ATXN2 promoter can occur, consistent with epigenetic control of ATXN2 expression, and that differences in methylation may affect disease course. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Spinocerebellar Ataxia 2</em></strong></p><p>
|
|
In patients with spinocerebellar ataxia-2, Pulst et al. (1996) identified a (CAG)n repeat located in the 5-prime end of the coding region of the ATXN2 gene (601517.0001). They detected expansions of 36 to 52 repeats in affected individuals; the most common allele contained 37 repeats. They noted that the SCA2 repeat is unusual in that only 2 alleles were demonstrated in the normal population. A common allele with 22 repeats was found in people of European descent. Using RT-PCR, Pulst et al. (1996) determined that the SCA2 (CAG)n repeat is transcribed in lymphoblastoid cell lines and that the cells could be used to express the expanded repeat genes from patients with SCA2. </p><p>Sanpei et al. (1996) analyzed 286 normal chromosomes and found that the (CAG)n repeats ranged in size from 15 to 24, with a unit of 22 repeats accounting for 94% of the alleles. In contrast, SCA2 patient chromosomes contained expanded repeats ranging in size from 35 to 59 units. Sanpei et al. (1996) reported that there was a strong inverse correlation between the size of the (CAG)n repeat and the age of onset of SCA2 symptoms. </p><p>Imbert et al. (1996) reported that normal SCA2 alleles contained 17 to 29 (CAG)n repeats and 1 to 3 (CAA)n repeats (also glutamine-encoding). Mutated alleles contained 37 to 50 repeats and appeared to be particularly unstable in maternal and paternal transmissions. Sequence analysis of expanded repeats from 3 individuals revealed pure CAG stretches. Imbert et al. (1996) reported a steep inverse correlation between the age of onset of disease and (CAG)n repeat number. </p><p>Riess et al. (1997) investigated the (CAG)n repeat length of the ATXN2 gene in 842 patients with sporadic ataxia and in 96 German patients with dominantly inherited SCA that did not harbor the SCA1 or MJD1/SCA3 mutation. The SCA2 (CAG)n expansion was identified in 71 patients from 54 families. The (CAG)n stretch of the affected allele varied between 36 and 64 trinucleotide units. Significant repeat expansions occurred most commonly during paternal transmission. Analysis of the (CAG)n repeat lengths with respect to the age of onset in 41 patients revealed an inverse correlation. They found that 241 apparently healthy octogenarians carried alleles between 16 and 31 repeats. One 50-year-old healthy individual had 34 repeats; she had transmitted an expanded allele to her child. Riess et al. (1997) commented that the small difference between 'normal' and disease alleles makes it necessary to define the extreme values of their reaches. With one exception, the trinucleotide expansion was not observed in 842 ataxia patients without a family history of the disease. The SCA2 mutation causes the disease in nearly 14% of autosomal dominant SCA in Germany. </p><p>Van de Warrenburg et al. (2005) applied statistical analysis to examine the relationship between age at onset and number of expanded triplet repeats from a Dutch-French cohort of 802 patients with SCA1 (138 patients), SCA2 (166 patients), SCA3 (342 patients), SCA6 (53 patients), and SCA7 (103 patients). The size of the expanded repeat explained 66 to 75% of the variance in age at onset for SCA1, SCA2, and SCA7, but less than 50% for SCA3 and SCA6. The relation between age at onset and CAG repeat was similar for all groups except for SCA2, suggesting that the polyglutamine repeat in the ataxin-2 protein exerts its pathologic effect in a different way. A contribution of the nonexpanded allele to age at onset was observed for only SCA1 and SCA6. Van de Warrenburg et al. (2005) acknowledged that their results were purely mathematical, but suggested that they reflected biologic variations among the diseases. </p><p>Spadafora et al. (2007) reported 2 brothers and a nephew with SCA2. Molecular analysis identified CAG repeat numbers of 35/36, 22/35, and 22/42, respectively. The brother and nephew with the 35/36 and 22/42 repeat expansions showed earlier age at onset and a more severe progressive disorder compared to the brother with the 22/35 repeat expansions. The family was from Sicily and denied consanguinity, although both deceased parents of the brothers were reportedly affected late in life. Spadafora et al. (2007) concluded that SCA2 shows gene dosage effects on phenotype. </p><p><strong><em>Amyotrophic Lateral Sclerosis 13</em></strong></p><p>
|
|
Elden et al. (2010) demonstrated genetic, biochemical, and neuropathologic interactions between TDP43 (605078), a protein involved in amyotrophic lateral sclerosis (ALS10; 612069), and ATXN2, which raised the possibility that mutations in ATXN2 may have a causative role in ALS. The ATXN2 polyQ tract length, although variable, is most frequently 22-23, with expansions of greater than 34 causing SCA2. However, the variable nature of the polyQ repeat indicated a mechanism by which such mutations in ATXN2 could be linked to ALS: Elden et al. (2010) proposed that intermediate-length expansions greater than 23 but below the threshold for SCA2 may be associated with ALS. They studied the frequency of intermediate-length ATXN2 polyglutamine repeat in ALS, comparing 915 subjects with ALS with 980 neurologically normal controls. Among those with ALS, 4.7% (43) had repeat lengths of 27 to 33, whereas only 1.4% (14) of neurologically normal subjects had glutamine expansions. The P value for this difference was 3.6 x 10(-5) with an odds ratio (OR) of 2.80. Elden et al. (2010) analyzed ATXN2 protein levels in patient-derived lymphoblastoid cells from ALS cases harboring intermediate-length polyQ expansions, ALS cases with normal-range repeat lengths, and controls. These studies showed that whereas the steady-state levels of ATXN2 were comparable, cyclohexamide treatment, which blocks new protein synthesis, revealed an increase in stability (or decreased degradation) of ATXN2 in cells with intermediate-length polyQ repeats. Elden et al. (2010) found that polyQ expansions in ATXN2 enhance its interaction with TDP43. Both ATXN2 and TDP43 relocalize to stress granules, sites of RNA processing, under various stress situations such as heat shock and oxidative stress. Under normal conditions TDP43 localized to the nucleus and ATXN2 to the cytoplasm in both control cells and cells harboring polyQ repeat expansions. The authors proposed that intermediate-length ATXN2 polyQ repeats might confer genetic risk for ALS by making TDP43 more prone to mislocalize from the nucleus to the cytoplasm under situations of stress. </p><p>In a case-control study of 556 ALS patients and 471 controls of French or French Canadian origin, Daoud et al. (2011) found that 7.2% of patients and 5.1% of controls had 1 intermediate repeat allele (24-33 repeats), which was not significantly different. However, receiver operating characteristic curve analysis yielded a significant association between ALS and high-length ATXN2 repeat alleles (29 or more repeats). CAG repeats of 29 or more were found in only 4 controls (0.8%), whereas they were found in 25 patients (4.5%) (OR, 5.5; p = 2.4 x 10(-4)). The association was even stronger for familial cases when stratified by familial versus sporadic cases (OR for familial cases, 9.29; p = 5.2 x 10(-5)). There was no correlation between size of repeat and age of onset. In addition, 2 familial and 9 sporadic ALS cases carried SCA2-sized pathogenic alleles (more than 32 repeats), and none had features of SCA2 such as cerebellar or brainstem atrophy. </p><p>Among 1,845 sporadic and 103 familial ALS cases and 2,002 controls from Belgium and the Netherlands, Van Damme et al. (2011) found an association between ALS and an expanded repeat of 29 or more CAG repeats in the ATXN2 gene (OR, 1.92; p = 0.036). In controls, the repeat length ranged from 16 to 31, with 22 being the most abundant. Repeat sizes of 31 or less were not significantly different between patients and controls. However, receiver operating characteristic analysis showed that the greatest sensitivity and specificity of discriminating ALS from control was using a cutoff of 29 repeats: 1.5% of patients had 29 or more repeats compared to 0.8% of controls (OR, 1.92; p = 0.036). There was no correlation between repeat length and disease parameters. When combined in a metaanalysis with the data of Elden et al. (2010), the association was highly significant (OR, 2.93; p less than 0.0001). Ten patients (0.05%) with sporadic ALS had 32 or more repeats, and none of these patients had signs of SCA2. Two of 91 families with ALS (2.2%) had expanded repeats: 1 with 31 repeats and the other with 33 repeats. In the 33-repeat family, which was consanguineous, 2 affected individuals had repeat expansions on both alleles, 33:33 and 33:31, respectively, although the phenotype was not significantly different from classic ALS, except for some sensory abnormalities. Two sibs from a third family with a heterozygous repeat length of 34 and 35, respectively, had classic SCA2 with no signs of upper motor neuron involvement. The findings indicated a genetic overlap between SCA2 and ALS13. </p><p>Among 3,919 patients with various neurodegenerative diseases, including 532 with ALS, 641 with frontotemporal dementia (FTD; 600274), 1,530 with Alzheimer disease (AD; 104300), 702 with Parkinson disease (PD; 168600), and 514 with progressive supranuclear palsy (PSP; 601104), and 4,877 healthy controls, Ross et al. (2011) found that ATXN2 repeat lengths greater than 30 units were significantly associated with ALS (odds ratio of 5.57; p = 0.001) and with PSP (OR of 5.83; p = 0.004). Repeat expansions were found in 8 (1.5%) ALS patients, 4 (0.8%) PSP patients, and 9 (0.2%) controls. Significant associations between repeats greater than 30 were not observed in patients with FTD, AD, or PD. The findings of expanded repeat alleles (31 to 33) in control individuals indicated that caution should be taken when attributing specific disease phenotypes to these repeat lengths. However, 6 of the controls with expanded repeats were under the mean onset age of all patient groups except PD. The findings confirmed the role of ATXN2 as an important risk factor for ALS and suggested that expanded ATXN2 repeats may predispose to other neurodegenerative diseases, including progressive supranuclear palsy. </p><p>Chio et al. (2015) evaluated polyQ repeats in the ATXN2 gene in 672 patients from Italy with ALS and matched controls. Thirty-one or more polyQ repeats in the ATXN1 gene were significantly more common in ALS cases. Chio et al. (2015) also found that the presence of 31 or more polyQ repeats had a shorter median survival. These findings were replicated in an additional cohort of 661 Italian patients with ALS. </p><p>Glass et al. (2022) evaluated polyQ repeats in the ATXN2 gene in 2,181 patients with ALS, 71 patients with ALS combined with frontotemporal dementia (FTDALS), 1,485 patients with frontotemporal dementia (FTD), 2,610 patients with Lewy body dementia (LBD), and 2,921 controls. The authors found that polyQ repeats of 31 or greater in the ATXN2 gene significantly increased the risk for ALS and FTDALS. In a subset of 1,362 patients with ALS from whom clinical data were available, patients with polyQ repeats of 31 or greater did not have a difference in age of onset or survival compared to patients with ALS without a polyQ tract expansion. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Population Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In the vicinity of Holguin in northeastern Cuba (neighboring the Guantanamo Naval Base), Orozco et al. (1989) estimated a frequency of 41 per 100,000 for a form of dominantly inherited olivopontocerebellar atrophy occurring in persons of Spanish ancestry. The high prevalence was thought to be the result of founder effect. The clinical and biochemical features were described together with the neuropathologic findings in 7 autopsied patients. </p><p>Geschwind et al. (1997) found that SCA2 accounts for 13% of patients with autosomal dominant cerebellar ataxia (without retinal degeneration), which is intermediate between SCA1 and SCA3/MJD, which account for 6% and 23%, respectively. Together, SCA1, SCA2, and SCA3/MJD constitute more than 40% of the mutations leading to autosomal cerebellar ataxia type I. Geschwind et al. (1997) found that no patient without a family history of ataxia, or with a pure cerebellar or spastic syndrome, tested positive for SCA1, SCA2, or SCA3. No overlap in ataxin-2 allele size between normal and disease chromosomes, or intermediate-sized alleles, was observed. Repeat length correlated inversely with age at onset, accounting for approximately 80% of the variability in onset age. Haplotype analysis provided no evidence for a single founder chromosome, and diverse ethnic origins were observed among SCA2 kindreds. In addition, a wide spectrum of clinical phenotypes was observed among SCA2 patients, including typical mild dominant ataxia, the MJD phenotype with facial fasciculations and lid retraction, and early-onset ataxia with a rapid course, chorea, and dementia. </p><p>Studying 77 German families with autosomal dominant cerebellar ataxia of SCA types 1, 2, 3, and 6, Schols et al. (1997) found that the SCA1 mutation accounted for 9%, SCA2 for 10%, SCA3 for 42%, and SCA6 for 22%. There was no family history of ataxia in 7 of 27 SCA6 patients. Age at onset correlated inversely with repeat length in all subtypes, yet the average effect of 1 CAG unit on age of onset was different for each SCA subtype. </p><p>Watanabe et al. (1998) investigated 101 kindreds with spinocerebellar ataxias from the central Honshu island of Japan, using a molecular diagnostic approach with amplification of the CAG trinucleotide repeat of the causative genes. SCA2 accounted for 5.9% of the cases. </p><p>Among 202 Japanese and 177 Caucasian families with autosomal dominant SCA, Takano et al. (1998) found that the prevalence of SCA2 was significantly higher in the Caucasian population (14%) compared to the Japanese population (5%). This corresponded to higher frequencies of large normal CACNA1A CAG repeat alleles (greater than 22 repeats) in Caucasian controls compared to Japanese controls. The findings suggested that large normal alleles contribute to the generation of expanded alleles that lead to dominant SCA. </p><p>Pareyson et al. (1999) evaluated 73 Italian families with type I ADCA. SCA1 was the most common genotype, accounting for 41% of cases (30 families); SCA2 was slightly less frequent (29%, 21 families), and the remaining families were negative for the SCA1, SCA2, and SCA3 mutations. Among the positively genotyped families, SCA1 was found most frequently in families from northern Italy (50%), while SCA2 was the most common mutation in families from the southern part of the country (56%). Slow saccades and decreased deep tendon reflexes were observed significantly more frequently in SCA2 patients, while increased deep tendon reflexes and nystagmus were more common in SCA1. </p><p>In an analysis of 42 Indian families, Saleem et al. (2000) found that SCA2 was the most frequent ataxia among those studied. In the SCA2 families, together with an intergenerational increase in repeat size, a horizontal increase with the birth order of the offspring was also observed, indicating an important role for parental age in repeat instability. This was strengthened by the detection in a pair of dizygotic twins of expanded alleles showing the same repeat number. Haplotype analysis indicated the presence of a common founder chromosome for the expanded allele in the Indian population. Polymorphism of CAG repeats in 135 normal individuals at the SCA loci studied showed similarity to the Caucasian population but was significantly different from the Japanese population. </p><p>Storey et al. (2000) examined the frequency of mutations for SCA types 1, 2, 3, 6, and 7 (164500) in southeastern Australia. Of 63 pedigrees or individuals with positive tests, 30% had SCA1, 15% had SCA2, 22% had SCA3, 30% had SCA6, and 3% had SCA7. Ethnic origin was of importance in determining SCA type: 4 of 9 SCA2 index cases were of Italian origin, and 4 of 14 SCA3 index cases were of Chinese origin. </p><p>Zhao et al. (2002) found that SCA2 is relatively common in the Malay population of Singapore. </p><p>Of 253 unrelated Korean patients with progressive cerebellar ataxia, Lee et al. (2003) identified 52 (20.6%) with expanded CAG repeats. The most frequent SCA type was SCA2 (33%), followed by SCA3 (29%), SCA6 (19%), SCA1 (12%), and SCA7 (8%). There were characteristic clinical features, such as hypotonia and optic atrophy for SCA1, hyporeflexia for SCA2, nystagmus, bulging eye, and dystonia for SCA3, and macular degeneration for SCA7. </p><p>In a study of ATXN2 CAG repeat alleles in about 3,000 Cuban chromosomes, Laffita-Mesa et al. (2012) found that the range of repeats was distributed continuously from 13 to 31 repeats, with 22 repeats being the most frequent allele (76%). However, the distribution was skewed toward the large CAG range and was higher compared to Caucasian, Japanese, Indian, and Polish populations. Cuban chromosomes also had a high frequency of intermediate alleles (32 and 33 CAG repeats). Examination of 81 normal chromosomes showed high variance in the CAG with CAA interruption sequence, with many normal alleles lacking the stability-mediating CAA interruptions. Alleles with 27-31 repeats were somatically unstable, suggesting that they may give rise to de novo pathogenic expansions. Statistical analysis pointed to 27 CAG repeats as being the threshold for intermediate alleles. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Therapy</em></strong></p><p>
|
|
Scoles et al. (2017) developed an antisense oligonucleotide, ASO7, that downregulated ATXN2 mRNA and protein, which resulted in delayed onset of the SCA2 phenotype. After delivery by intracerebroventricular injection to ATXN2-Q127 mice, ASO7 localized to Purkinje cells, reduced cerebellar ATXN2 expression below 75% for more than 10 weeks without microglial activation, and reduced the levels of cerebellar ATXN2. Treatment of symptomatic mice with ASO7 improved motor function compared to saline-treated mice. ASO7 had a similar effect in the BAC-Q72 SCA2 mouse model, and in both mouse models it normalized protein levels of several SCA2-related proteins expressed in Purkinje cells, including Rgs8, Pcp2, Pcp4, Homer3, Cep76 (620791), and Fam107b. Notably, the firing frequency of Purkinje cells returned to normal even when treatment was initiated more than 12 weeks after the onset of the motor phenotype in BAC-Q72 mice. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Harding (1982)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Almaguer-Mederos, L. E., Falcon, N. S., Almira, Y. R., Zaldivar, Y. G., Almarales, D. C., Gongora, E. M., Herrera, M. P., Batallan, K. E., Arminan, R. R., Manresa, M. V., Cruz, G. S., Laffita-Mesa, J., Cyuz, T. M., Chang, V., Auburger, G., Gispert, S., Perez, L. V.
|
|
<strong>Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis.</strong>
|
|
Clin. Genet. 78: 169-174, 2010.
|
|
|
|
|
|
[PubMed: 20095980]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2009.01358.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Auburger, G., Diaz, G. O., Capote, R. F., Sanchez, S. G., Perez, M. P., Estrada del Cueto, M., Meneses, M. G., Farrall, M., Williamson, R., Chamberlain, S., Baute, L. H.
|
|
<strong>Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population.</strong>
|
|
Am. J. Hum. Genet. 46: 1163-1177, 1990.
|
|
|
|
|
|
[PubMed: 1971152]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Babovic-Vuksanovic, D., Snow, K., Patterson, M. C., Michels, V. V.
|
|
<strong>Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.</strong>
|
|
Am. J. Med. Genet. 79: 383-387, 1998.
|
|
|
|
|
|
[PubMed: 9779806]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bale, A. E., Bale, S. J., Schlesinger, S. L., McFarland, H. F.
|
|
<strong>Linkage analysis in spinopontine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia.</strong>
|
|
Am. J. Med. Genet. 27: 595-602, 1987.
|
|
|
|
|
|
[PubMed: 3477098]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320270312]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Belal, S., Cancel, G., Stevanin, G., Hentati, F., Khati, C., Ben Hamida, C., Auburger, G., Agid, Y., Ben Hamida, M., Brice, A.
|
|
<strong>Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus.</strong>
|
|
Neurology 44: 1423-1426, 1994.
|
|
|
|
|
|
[PubMed: 8058142]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.44.8.1423]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boller, F., Segarra, J. M.
|
|
<strong>Spino-pontine degeneration.</strong>
|
|
Europ. Neurol. 2: 356-373, 1969.
|
|
|
|
|
|
[PubMed: 5808476]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000113812]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burk, K., Abele, M., Fetter, M., Dichgans, J., Skalej, M., Laccone, F., Didierjean, O., Brice, A., Klockgether, T.
|
|
<strong>Autosomal dominant cerebellar ataxia type I: clinical features and MRI in families with SCA1, SCA2 and SCA3.</strong>
|
|
Brain 119: 1497-1505, 1996.
|
|
|
|
|
|
[PubMed: 8931575]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/119.5.1497]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burk, K., Fetter, M., Abele, M., Laccone, F., Brice, A., Dichgans, J., Klockgether, T.
|
|
<strong>Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3.</strong>
|
|
J. Neurol. 246: 789-797, 1999.
|
|
|
|
|
|
[PubMed: 10525976]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004150050456]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Buttner, N., Geschwind, D., Jen, J. C., Perlman, S., Pulst, S. M., Baloh, R. W.
|
|
<strong>Oculomotor phenotypes in autosomal dominant ataxias.</strong>
|
|
Arch. Neurol. 55: 1353-1357, 1998.
|
|
|
|
|
|
[PubMed: 9779665]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.55.10.1353]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Charles, P., Camuzat, A., Benammar, N., Sellal, F., Destee, A., Bonnet, A.-M., Lesage, S., Le Ber, I., Stevanin, G., Durr, A., Brice, A., French Parkinson's Disease Genetic Study Group.
|
|
<strong>Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?</strong>
|
|
Neurology 69: 1970-1975, 2007.
|
|
|
|
|
|
[PubMed: 17568014]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000269323.21969.db]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chio, A., Calvo, A., Moglia, C., Canosa, A., Brunetti, M., Barberis, M., Restagno, G., Conte, A., Bisogni, G., Marangi, G., Moncada, A., Lattante, S., and 9 others.
|
|
<strong>ATXN2 polyQ intermediate repeats are a modifier of ALS survival.</strong>
|
|
Neurology 84: 251-258, 2015.
|
|
|
|
|
|
[PubMed: 25527265]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/WNL.0000000000001159]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Daoud, H., Belzil, V., Martins, S., Sabbagh, M., Provencher, P., Lacomblez, L., Meininger, V., Camu, W., Dupre, N., Dion, P. A., Rouleau, G. A.
|
|
<strong>Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.</strong>
|
|
Arch. Neurol. 68: 739-742, 2011.
|
|
|
|
|
|
[PubMed: 21670397]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneurol.2011.111]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Elden, A. C., Kim, H.-J., Hart, M. P., Chen-Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R., Lu, M. M., Padmanabhan, A., Clay-Falcone, D., and 11 others.
|
|
<strong>Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.</strong>
|
|
Nature 466: 1069-1075, 2010.
|
|
|
|
|
|
[PubMed: 20740007]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature09320]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Eto, K., Sumi, S. M., Bird, T. D., McEvoy-Bush, T., Boehnke, M., Schellenberg, G.
|
|
<strong>Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss: spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family?</strong>
|
|
Arch. Neurol. 47: 968-974, 1990.
|
|
|
|
|
|
[PubMed: 2396938]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1990.00530090038011]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Furtado, S., Farrer, M., Tsuboi, Y., Klimek, M. L., de la Fuente-Fernandez, R., Hussey, J., Lockhart, P., Calne, D. B., Suchowersky, O., Stoessl, A. J., Wszolek, Z. K.
|
|
<strong>SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings.</strong>
|
|
Neurology 59: 1625-1627, 2002.
|
|
|
|
|
|
[PubMed: 12451209]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000035625.19871.dc]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Geschwind, D. H., Perlman, S., Figueroa, C. P., Treiman, L. J., Pulst, S. M.
|
|
<strong>The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.</strong>
|
|
Am. J. Hum. Genet. 60: 842-850, 1997.
|
|
|
|
|
|
[PubMed: 9106530]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gispert, S., Lunkes, A., Santos, N., Orozco, G., Ha-Hao, D., Ratzlaff, T., Aguiar, J., Torrens, I., Heredero, L., Brice, A., Cancel, G., Stevanin, G., and 13 others.
|
|
<strong>Localization of the candidate gene D-amino acid oxidase outside the refined 1-cM region of spinocerebellar ataxia 2. (Letter)</strong>
|
|
Am. J. Hum. Genet. 57: 972-975, 1995.
|
|
|
|
|
|
[PubMed: 7573064]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gispert, S., Twells, R., Orozco, G., Brice, A., Weber, J., Heredero, L., Scheufler, K., Riley, B., Allotey, R., Nothers, C., Hillermann, R., Lunkes, A., and 17 others.
|
|
<strong>Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.</strong>
|
|
Nature Genet. 4: 295-299, 1993.
|
|
|
|
|
|
[PubMed: 8358438]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0793-295]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Giuffrida, S., Saponara, R., Restivo, D. A., Salinaro, A. T., Tomarchio, L., Pugliares, P., Fabbri, G., Maccagnano, C.
|
|
<strong>Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients.</strong>
|
|
J. Neurol. 246: 383-388, 1999.
|
|
|
|
|
|
[PubMed: 10399871]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004150050368]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Glass, J. D., Dewan, R., Ding, J., Gibbs, J. R., Dalgard, C., Keagle, P. J., Shankaracharya, Garcia-Redondo, A., Traynor, B. J., Chia, R., Landers, J. E.
|
|
<strong>ATXN2 intermediate expansions in amyotrophic lateral sclerosis.</strong>
|
|
Brain 145: 2671-2676, 2022.
|
|
|
|
|
|
[PubMed: 35521889]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/awac167]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gwinn-Hardy, K., Chen, J. Y., Liu, H.-C., Liu, T. Y., Boss, M., Seltzer, W., Adam, A., Singleton, A., Koroshetz, W., Waters, C., Hardy, J., Farrer, M.
|
|
<strong>Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese.</strong>
|
|
Neurology 55: 800-805, 2000.
|
|
|
|
|
|
[PubMed: 10993999]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.55.6.800]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harding, A. E.
|
|
<strong>The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of 'the Drew family of Walworth.'</strong>
|
|
Brain 105: 1-28, 1982.
|
|
|
|
|
|
[PubMed: 7066668]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/105.1.1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harding, A. E.
|
|
<strong>Classification of the hereditary ataxias and paraplegias.</strong>
|
|
Lancet 321: 1151-1155, 1983. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 6133167]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(83)92879-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hernandez, A., Magarino, C., Gispert, S., Santos, N., Lunkes, A., Orozco, G., Heredero, L., Beckmann, J., Auburger, G.
|
|
<strong>Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1.</strong>
|
|
Genomics 25: 433-435, 1995.
|
|
|
|
|
|
[PubMed: 7789976]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(95)80043-l]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huynh, D. P., Figueroa, K., Hoang, N., Pulst, S.-M.
|
|
<strong>Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human.</strong>
|
|
Nature Genet. 26: 44-50, 2000.
|
|
|
|
|
|
[PubMed: 10973246]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/79162]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ihara, T., Sasaki, H., Wakisara, A., Takada, A., Yoshiki, T., Matsuura, T., Hamada, T., Suzuki, Y., Tashiro, K.
|
|
<strong>Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2).</strong>
|
|
Jpn. J. Hum. Genet. 39: 305-313, 1994.
|
|
|
|
|
|
[PubMed: 7841441]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01874049]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.-M., Weber, C., Mandel, J.-L., Cancel, G., Abbas, N., Durr, A., Didierjean, O., Stevanin, G., Agid, Y., Brice, A.
|
|
<strong>Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.</strong>
|
|
Nature Genet. 14: 285-291, 1996.
|
|
|
|
|
|
[PubMed: 8896557]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1196-285]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kock, N., Muller, B., Vieregge, P., Pramstaller, P. P., Marder, K., Abbruzzese, G., Martinelli, P., Lang, A. E., Jacobs, H., Hagenah, J., Harris, J., Meija-Santana, H., and 9 others.
|
|
<strong>Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism. (Letter)</strong>
|
|
Ann. Neurol. 52: 257-258, 2002.
|
|
|
|
|
|
[PubMed: 12210804]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.10270]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Laffita-Mesa, J. M., Bauer, P. O., Kouri, V., Pena Serrano, L., Roskams, J., Almaguer Gotay, D., Montes Brown, J. C., Martinez Rodriguez, P. A., Gonzalez-Zaldivar, Y., Almaguer Mederos, L., Cuello-Almarales, D., Aguiar Santiago, J.
|
|
<strong>Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications.</strong>
|
|
Hum. Genet. 131: 625-638, 2012.
|
|
|
|
|
|
[PubMed: 22037902]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-011-1101-y]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Laffita-Mesa, J. M., Velazquez-Perez, L. C., Santos Falcon, N., Cruz-Marino, T., Gonzalez Zaldivar, Y., Vazquez Mojena, Y., Almaguer-Gotay, D., Almaguer Mederos, L. E., Rodriguez Labrada, R.
|
|
<strong>Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.</strong>
|
|
Europ. J. Hum. Genet. 20: 41-49, 2012.
|
|
|
|
|
|
[PubMed: 21934711]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2011.154]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lazzarini, A., Zimmerman, T. R., Jr., Johnson, W. G., Duvoisin, R. C.
|
|
<strong>A 17th-century founder gives rise to a large North American pedigree of autosomal dominant spinocerebellar ataxia not linked to the SCA1 locus on chromosome 6.</strong>
|
|
Neurology 42: 2118-2124, 1992.
|
|
|
|
|
|
[PubMed: 1436521]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.42.11.2118]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, W. Y., Jin, D. K., Oh, M. R., Lee, J. E., Song, S. M., Lee, E. A., Kim, G., Chung, J. S., Lee, K. H.
|
|
<strong>Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.</strong>
|
|
Arch. Neurol. 60: 858-863, 2003. Note: Erratum: Arch. Neurol. 60: 1256 only, 2003.
|
|
|
|
|
|
[PubMed: 12810491]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.60.6.858]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lopes-Cendes, I., Andermann, E., Attig, E., Cendes, F., Bosch, S., Wagner, M., Gerstenbrand, F., Andermann, F., Rouleau, G. A.
|
|
<strong>Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.</strong>
|
|
Am. J. Hum. Genet. 54: 774-781, 1994.
|
|
|
|
|
|
[PubMed: 8178818]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lu, C.-S., Wu Chou, Y.-H., Kuo, P.-C., Chang, H.-C., Weng, Y.-H.
|
|
<strong>The parkinsonian phenotype of spinocerebellar ataxia type 2.</strong>
|
|
Arch. Neurol. 61: 35-38, 2004.
|
|
|
|
|
|
[PubMed: 14732617]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.61.1.35]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Moretti, P., Blazo, M., Garcia, L., Armstrong, D., Lewis, R. A., Roa, B., Scaglia, F.
|
|
<strong>Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.</strong>
|
|
Am. J. Med. Genet. 124A: 392-396, 2004.
|
|
|
|
|
|
[PubMed: 14735588]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.20428]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Orozco Diaz, G., Nodarse Fleites, A., Cordoves Sagaz, R., Auburger, G.
|
|
<strong>Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba.</strong>
|
|
Neurology 40: 1369-1375, 1990.
|
|
|
|
|
|
[PubMed: 2392220]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.40.9.1369]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Orozco, G., Estrada, R., Perry, T. L., Arana, J., Fernandez, R., Gonzalez-Quevedo, A., Galarraga, J., Hansen, S.
|
|
<strong>Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings.</strong>
|
|
J. Neurol. Sci. 93: 37-50, 1989.
|
|
|
|
|
|
[PubMed: 2809629]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0022-510x(89)90159-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pareyson, D., Gellera, C., Castellotti, B., Antonelli, A., Riggio, M. C., Mazzucchelli, F., Girotti, F., Pietrini, V., Mariotti, C., Di Donato, S.
|
|
<strong>Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes.</strong>
|
|
J. Neurol. 246: 389-393, 1999.
|
|
|
|
|
|
[PubMed: 10399872]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004150050369]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pogacar, S., Ambler, M., Conklin, W. J., O'Neil, W. A., Lee, H. Y.
|
|
<strong>Dominant spinopontine atrophy: report of two additional members of family W.</strong>
|
|
Arch. Neurol. 35: 156-162, 1978.
|
|
|
|
|
|
[PubMed: 629660]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1978.00500270038008]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pulst, S.-M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X.-N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., DeJong, P., Rouleau, G. A., Auburger, G., Korenberg, J. R., Figueroa, C., Sahba, S.
|
|
<strong>Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.</strong>
|
|
Nature Genet. 14: 269-276, 1996.
|
|
|
|
|
|
[PubMed: 8896555]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1196-269]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pulst, S.-M., Nechiporuk, A., Starkman, S.
|
|
<strong>Anticipation in spinocerebellar ataxia type 2. (Letter)</strong>
|
|
Nature Genet. 5: 8-10, 1993.
|
|
|
|
|
|
[PubMed: 8220431]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0993-8c]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ragothaman, M., Sarangmath, N., Chaudhary, S., Khare, V., Mittal, U., Sharma, S., Komatireddy, S., Chakrabarti, S., Mukerji, M., Juyal, R. C., Thelma, B. K., Muthane, U. B.
|
|
<strong>Complex phenotypes in an Indian family with homozygous SCA2 mutations.</strong>
|
|
Ann. Neurol. 55: 130-133, 2004.
|
|
|
|
|
|
[PubMed: 14705123]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.10815]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ranum, L. P. W., Rich, S. S., Nance, M. A., Duvick, L. A., Aita, J. F., Orr, H. T., Anton-Johnson, S., Schut, L. J.
|
|
<strong>Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred.</strong>
|
|
Neurology 42: 344-347, 1992.
|
|
|
|
|
|
[PubMed: 1736163]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.42.2.344]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Riess, O., Laccone, F. A., Gispert, S., Schols, L., Zuhlke, C., Vieira-Saecker, A. M. M., Herlt, S., Wessel, K., Epplen, J. T., Weber, B. H. F., Kreuz, F., Chahrokh-Zadeh, S., and 11 others.
|
|
<strong>SCA2 trinucleotide expansion in German SCA patients.</strong>
|
|
Neurogenetics 1: 59-64, 1997.
|
|
|
|
|
|
[PubMed: 10735276]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s100480050009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rivaud-Pechoux, S., Durr, A., Gaymard, B., Cancel, G., Ploner, C. J., Agid, Y., Brice, A., Pierrot-Deseilligny, C.
|
|
<strong>Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.</strong>
|
|
Ann. Neurol. 43: 297-302, 1998.
|
|
|
|
|
|
[PubMed: 9506545]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410430306]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ross, O. A., Rutherford, N. J., Baker, M., Soto-Ortolaza, A. I., Carrasquillo, M. M., DeJesus-Hernandez, M., Adamson, J., Li, M., Volkening, K., Finger, E., Seeley, W. W., Hatanpaa, K. J., and 21 others.
|
|
<strong>Ataxin-2 repeat-length variation and neurodegeneration.</strong>
|
|
Hum. Molec. Genet. 20: 3207-3212, 2011.
|
|
|
|
|
|
[PubMed: 21610160]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddr227]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rub, U., Burk, K., Schols, L., Brunt, E. R., de Vos, R. A. I., Orozco Diaz, G., Gierga, K., Ghebremedhin, E., Schultz, C., Del Turco, D., Mittelbronn, M., Auburger, G., Deller, T., Braak, H.
|
|
<strong>Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3.</strong>
|
|
Neurology 63: 1258-1263, 2004.
|
|
|
|
|
|
[PubMed: 15477548]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000140498.24112.8c]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saleem, Q., Choudhry, S., Mukerji, M., Bashyam, L., Padma, M. V., Chakravarthy, A., Maheshwari, M. C., Jain, S., Brahmachari, S. K.
|
|
<strong>Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation.</strong>
|
|
Hum. Genet. 106: 179-187, 2000.
|
|
|
|
|
|
[PubMed: 10746559]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390051026]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., Koide, R., Saito, M., and 13 others.
|
|
<strong>Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.</strong>
|
|
Nature Genet. 14: 277-284, 1996.
|
|
|
|
|
|
[PubMed: 8896556]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng1196-277]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schols, L., Amoiridis, G., Buttner, T., Przuntek, H., Epplen, J. T., Riess, O.
|
|
<strong>Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?</strong>
|
|
Ann. Neurol. 42: 924-932, 1997.
|
|
|
|
|
|
[PubMed: 9403486]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410420615]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Scoles, D. R., Meera, P., Schneider, M. D., Paul, S., Dansithong, W., Figueroa, K. P., Hung, G., Rigo, F., Bennett, C. F., Otis, T. S., Pulst, S. M.
|
|
<strong>Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.</strong>
|
|
Nature 544: 362-366, 2017.
|
|
|
|
|
|
[PubMed: 28405024]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature22044]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shan, D.-E., Soong, B.-W., Sun, C.-M., Lee, S.-J., Liao, K.-K., Liu, R.-S.
|
|
<strong>Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism.</strong>
|
|
Ann. Neurol. 50: 812-815, 2001.
|
|
|
|
|
|
[PubMed: 11761482]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.10055]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shan, D.-E., Soong, B.-W.
|
|
<strong>Reply to letter of Kock et al. (Letter)</strong>
|
|
Ann. Neurol. 52: 258 only, 2002.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Silveira, I., Manaia, A., Melki, J., Magarino, C., Lunkes, A., Hernandez, A., Gispert, S., Burlet, P., Rozet, J.-M., Coutinho, P., Loureiro, J. E. L., Guimaraes, J., Auburger, G., Munnich, A., Sequeiros, J.
|
|
<strong>Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2).</strong>
|
|
Genomics 17: 556-559, 1993.
|
|
|
|
|
|
[PubMed: 7902323]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1993.1371]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sisodia, S. S.
|
|
<strong>Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial?</strong>
|
|
Cell 95: 1-4, 1998.
|
|
|
|
|
|
[PubMed: 9778239]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0092-8674(00)81743-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Spadafora, P., Annesi, G., Liguori, M., Tarantino, P., Cutuli, N., Carrideo, S., Ciro Candiano, I. C., De Marco, E. V., Civitelli, D., Annesi, F., Giuffrida, S., Quattrone, A.
|
|
<strong>Gene dosage influences the age at onset of SCA2 in a family from southern Italy. (Letter)</strong>
|
|
Clin. Genet. 72: 381-383, 2007.
|
|
|
|
|
|
[PubMed: 17850638]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00868.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Spadaro, M., Giunti, P., Lulli, P., Frontali, M., Jodice, C., Cappellacci, S., Morellini, M., Persichetti, F., Trabace, S., Anastasi, R., Morocutti, C.
|
|
<strong>HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds.</strong>
|
|
Acta Neurol. Scand. 85: 257-265, 1992.
|
|
|
|
|
|
[PubMed: 1585797]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1600-0404.1992.tb04041.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Starkman, S., Kaul, S., Fried, J., Behrens, M.
|
|
<strong>Unusual abnormal eye movements in a family with hereditary spinocerebellar degeneration. (Abstract)</strong>
|
|
Neurology 22: 402, 1972.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Storey, E., du Sart, D., Shaw, J. H., Lorentzos, P., Kelly, L., Gardner, R. J. M., Forrest, S. M., Biros, I., Nicholson, G. A.
|
|
<strong>Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia.</strong>
|
|
Am. J. Med. Genet. 95: 351-357, 2000.
|
|
|
|
|
|
[PubMed: 11186889]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1096-8628(20001211)95:4<351::aid-ajmg10>3.0.co;2-r]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Takano, H., Cancel, G., Ikeuchi, T., Lorenzetti, D., Mawad, R., Stevanin, G., Didierjean, O., Durr, A., Oyake, M., Shimohata, T., Sasaki, R., Koide, R., Igarashi, S., Hayashi, S., Takiyama, Y., Nishizawa, M., Tanaka, H., Zoghbi, H., Brice, A., Tsuji, S.
|
|
<strong>Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.</strong>
|
|
Am. J. Hum. Genet. 63: 1060-1066, 1998.
|
|
|
|
|
|
[PubMed: 9758625]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302067]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tan, R. H., Kril, J. J., McGinley, C., Hassani, M., Masuda-Suzukake, M., Hasegawa, M., Mito, R., Kiernan, M. C., Halliday, G. M.
|
|
<strong>Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions.</strong>
|
|
Ann. Neurol. 79: 295-305, 2016.
|
|
|
|
|
|
[PubMed: 26599997]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.24565]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L., Agid, Y., Brice, A., Mandel, J.-L.
|
|
<strong>Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.</strong>
|
|
Nature 378: 403-406, 1995.
|
|
|
|
|
|
[PubMed: 7477379]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/378403a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tuin, I., Voss, U., Kang, J.-S., Kessler, K., Rub, U., Nolte, D., Lochmuller, H., Tinschert, S., Claus, D., Krakow, K., Pflug, B., Steinmetz, H., Auburger, G.
|
|
<strong>Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2).</strong>
|
|
Neurology 67: 1966-1972, 2006.
|
|
|
|
|
|
[PubMed: 17159102]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000247054.90322.14]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ueyama, H., Kumamoto, T., Nagao, S., Mita, S., Uchino, M., Tsuda, T.
|
|
<strong>Clinical and genetic studies of spinocerebellar ataxia type 2 in Japanese kindreds.</strong>
|
|
Acta Neurol. Scand. 98: 427-432, 1998.
|
|
|
|
|
|
[PubMed: 9875622]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1600-0404.1998.tb07325.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Van Damme, P., Veldink, J. H., van Blitterswijk, M., Corveleyn, A., van Vught, P. W. J., Thijs, V., Dubois, B., Matthijs, G., van den Berg, L. H., Robberecht, W.
|
|
<strong>Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.</strong>
|
|
Neurology 76: 2066-2072, 2011.
|
|
|
|
|
|
[PubMed: 21562247]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/WNL.0b013e31821f445b]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van de Warrenburg, B. P. C., Hendriks, H., Durr, A., van Zuijlen, M. C. A., Stevanin, G., Camuzat, A., Sinke, R. J., Brice, A., Kremer, B. P. H.
|
|
<strong>Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.</strong>
|
|
Ann. Neurol. 57: 505-512, 2005.
|
|
|
|
|
|
[PubMed: 15747371]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.20424]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van de Warrenburg, B. P. C., Notermans, N. C., Schelhaas, H. J., van Alfen, N., Sinke, R. J., Knoers, N. V. A. M., Zwarts, M. J., Kremer, B. P. H.
|
|
<strong>Peripheral nerve involvement in spinocerebellar ataxias.</strong>
|
|
Arch. Neurol. 61: 257-261, 2004.
|
|
|
|
|
|
[PubMed: 14967775]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.61.2.257]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Velazquez-Perez, L., Seifried, C., Santos-Falcon, N., Abele, M., Ziemann, U., Almaguer, L. E., Martinez-Gongora, E., Sanchez-Cruz, G., Canales, N., Perez-Gonzalez, R., Velazquez-Manresa, M., Viebahn, B., von Stuckrad-Barre, S., Fetter, M., Klockgether, T., Auburger, G.
|
|
<strong>Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.</strong>
|
|
Ann. Neurol. 56: 444-447, 2004.
|
|
|
|
|
|
[PubMed: 15349876]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.20220]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vinther-Jensen, T., Ek, J., Duno, M., Skovby, F., Hjermind, L. E., Nielsen, J. E., Nielsen, T. T.
|
|
<strong>Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.</strong>
|
|
Europ. J. Hum. Genet. 21: 626-629, 2013.
|
|
|
|
|
|
[PubMed: 23047744]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ejhg.2012.231]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vogel, A. P., Magee, M., Torres-Vega, R., Medrano-Montero, J., Cyngler, M. P., Kruse, M., Rojas, S., Cubillos, S. C., Canento, T., Maldonado, F., Vazquez-Mojena, Y., Ilg, W., Rodriguez-Labrada, R., Velazquez-Perez, L., Synofzik, M.
|
|
<strong>Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2.</strong>
|
|
Neurology 95: e194-e205, 2020.
|
|
|
|
|
|
[PubMed: 32527970]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/WNL.0000000000009776]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wadia, N. H., Swami, R. K.
|
|
<strong>A new form of heredo-familial spino-cerebellar degeneration with slow eye movements (nine families).</strong>
|
|
Brain 94: 359-374, 1971.
|
|
|
|
|
|
[PubMed: 5571047]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/94.2.359]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wadia, N., Pang, J., Desai, J., Mankodi, A., Desai, M., Chamberlain, S.
|
|
<strong>A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees: the significance of slow saccades in diagnosis.</strong>
|
|
Brain 121: 2341-2355, 1998.
|
|
|
|
|
|
[PubMed: 9874485]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/121.12.2341]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Watanabe, H., Tanaka, F., Matsumoto, M., Doyu, M., Ando, T., Mitsuma, T., Sobue, G.
|
|
<strong>Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6.</strong>
|
|
Clin. Genet. 53: 13-19, 1998.
|
|
|
|
|
|
[PubMed: 9550356]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.1998.531530104.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Whyte, M. P., Dekaban, A. S.
|
|
<strong>Familial cerebellar degeneration with slow eye-movements, mental deterioration and incidental nevus of Ota (oculo-dermal melanocytosis).</strong>
|
|
Dev. Med. Child. Neurol. 18: 373-380, 1976.
|
|
|
|
|
|
[PubMed: 939351]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1469-8749.1976.tb03660.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ying, S. H., Choi, S. I., Perlman, S. L., Baloh, R. W., Zee, D. S., Toga, A. W.
|
|
<strong>Pontine and cerebellar atrophy correlate with clinical disability in SCA2.</strong>
|
|
Neurology 66: 424-426, 2006.
|
|
|
|
|
|
[PubMed: 16476946]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000196464.47508.00]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zhao, Y., Tan, E. K., Law, H. Y., Yoon, C. S., Wong, M. C., Ng, I.
|
|
<strong>Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore.</strong>
|
|
Clin. Genet. 62: 478-481, 2002.
|
|
|
|
|
|
[PubMed: 12485197]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2002.620610.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 01/13/2023<br>Sonja A. Rasmussen - updated : 01/13/2023<br>Ada Hamosh - updated : 03/12/2018<br>Cassandra L. Kniffin - updated : 8/12/2013<br>Cassandra L. Kniffin - updated : 9/26/2012<br>Cassandra L. Kniffin - updated : 5/30/2012<br>Cassandra L. Kniffin - updated : 3/19/2012<br>Cassandra L. Kniffin - updated : 10/6/2011<br>Cassandra L. Kniffin - updated : 6/13/2011<br>Ada Hamosh - updated : 9/21/2010<br>Cassandra L. Kniffin - updated : 3/19/2008<br>Cassandra L. Kniffin - updated : 1/8/2008<br>Cassandra L. Kniffin - updated : 11/2/2007<br>Cassandra L. Kniffin - updated : 4/6/2006<br>Cassandra L. Kniffin - updated : 5/18/2005<br>Cassandra L. Kniffin - updated : 4/19/2005<br>Cassandra L. Kniffin - updated : 12/29/2004<br>Cassandra L. Kniffin - updated : 5/25/2004<br>Cassandra L. Kniffin - updated : 5/20/2004<br>Cassandra L. Kniffin - updated : 8/7/2003<br>Victor A. McKusick - updated : 12/26/2002<br>Cassandra L. Kniffin - updated : 10/24/2002<br>Cassandra L. Kniffin - reorganized : 9/13/2002<br>Kathryn R. Wagner - updated : 3/13/2001<br>Sonja A. Rasmussen - updated : 1/9/2001<br>Victor A. McKusick - updated : 3/8/2000<br>Victor A. McKusick - updated : 9/22/1999<br>Victor A. McKusick - updated : 9/22/1999<br>Wilson H. Y. Lo - updated : 8/10/1999<br>Ada Hamosh - updated : 5/11/1999<br>Victor A. McKusick - updated : 8/6/1998<br>Victor A. McKusick - updated : 3/27/1998<br>Victor A. McKusick - updated : 9/5/1997<br>Victor A. McKusick - updated : 6/12/1997<br>Moyra Smith - updated : 11/20/1996<br>Orest Hurko - updated : 3/7/1996
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 1/19/1993
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
mgross : 04/18/2024<br>alopez : 08/18/2023<br>carol : 01/13/2023<br>carol : 01/13/2023<br>alopez : 07/12/2022<br>carol : 03/11/2022<br>alopez : 05/21/2018<br>carol : 03/13/2018<br>alopez : 03/12/2018<br>alopez : 10/12/2016<br>mcolton : 02/21/2014<br>carol : 8/15/2013<br>ckniffin : 8/12/2013<br>alopez : 10/1/2012<br>ckniffin : 9/26/2012<br>carol : 5/31/2012<br>ckniffin : 5/30/2012<br>carol : 5/30/2012<br>ckniffin : 3/19/2012<br>carol : 10/13/2011<br>terry : 10/12/2011<br>ckniffin : 10/6/2011<br>alopez : 9/22/2011<br>wwang : 6/21/2011<br>ckniffin : 6/13/2011<br>ckniffin : 5/5/2011<br>ckniffin : 11/16/2010<br>alopez : 9/21/2010<br>alopez : 9/21/2010<br>carol : 5/25/2010<br>carol : 9/15/2009<br>terry : 2/9/2009<br>mgross : 10/21/2008<br>wwang : 3/31/2008<br>ckniffin : 3/19/2008<br>wwang : 1/28/2008<br>ckniffin : 1/8/2008<br>wwang : 11/13/2007<br>ckniffin : 11/2/2007<br>joanna : 6/27/2006<br>wwang : 4/11/2006<br>ckniffin : 4/6/2006<br>ckniffin : 9/21/2005<br>wwang : 6/1/2005<br>wwang : 5/26/2005<br>ckniffin : 5/18/2005<br>tkritzer : 5/9/2005<br>ckniffin : 4/19/2005<br>terry : 2/22/2005<br>tkritzer : 1/20/2005<br>ckniffin : 12/29/2004<br>tkritzer : 11/9/2004<br>tkritzer : 6/23/2004<br>ckniffin : 6/14/2004<br>tkritzer : 5/28/2004<br>tkritzer : 5/27/2004<br>ckniffin : 5/25/2004<br>ckniffin : 5/20/2004<br>tkritzer : 1/28/2004<br>ckniffin : 1/21/2004<br>tkritzer : 8/13/2003<br>ckniffin : 8/7/2003<br>carol : 2/24/2003<br>ckniffin : 2/13/2003<br>terry : 12/26/2002<br>carol : 11/13/2002<br>ckniffin : 10/24/2002<br>carol : 9/13/2002<br>ckniffin : 9/13/2002<br>ckniffin : 9/11/2002<br>ckniffin : 8/28/2002<br>ckniffin : 6/21/2002<br>carol : 3/29/2001<br>carol : 3/13/2001<br>mcapotos : 1/9/2001<br>mcapotos : 4/7/2000<br>mcapotos : 4/6/2000<br>terry : 3/8/2000<br>mgross : 9/22/1999<br>mgross : 9/22/1999<br>carol : 8/10/1999<br>alopez : 5/17/1999<br>terry : 5/11/1999<br>terry : 8/7/1998<br>terry : 8/6/1998<br>carol : 5/19/1998<br>terry : 4/7/1998<br>alopez : 3/27/1998<br>terry : 3/25/1998<br>terry : 9/12/1997<br>terry : 9/5/1997<br>mark : 6/16/1997<br>terry : 6/12/1997<br>terry : 12/4/1996<br>mark : 11/20/1996<br>terry : 11/20/1996<br>mark : 11/19/1996<br>terry : 4/15/1996<br>mark : 3/7/1996<br>terry : 2/23/1996<br>mimadm : 5/10/1995<br>mark : 3/28/1995<br>carol : 2/2/1995<br>jason : 7/25/1994<br>carol : 9/23/1993<br>carol : 9/10/1993
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 5, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|