5826 lines
583 KiB
Text
5826 lines
583 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
|
|
|
|
- #105210 - AMYLOIDOSIS, HEREDITARY SYSTEMIC 1; AMYLD1
|
|
|
|
|
|
- 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=105210"><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 class="hidden-sm hidden-xs">
|
|
|
|
|
|
Display:
|
|
|
|
|
|
<label style="font-weight: normal"><input type="checkbox" id="mimToggleChangeBars" checked /> Change Bars </label>
|
|
|
|
|
|
</span>
|
|
|
|
|
|
</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">#105210</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/105210"><strong>Clinical Synopsis</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
|
|
<a href="/phenotypicSeries/PS105210"> <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="#nomenclature">Nomenclature</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#inheritance">Inheritance</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalManagement">Clinical Management</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="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#history">History</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=AMYLOIDOSIS, HEREDITARY SYSTEMIC" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
|
|
<div id="mimEuroGentestFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20307&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hereditary ATTR amyloidosis </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11720&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">ATTRV30M amyloidosis </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11723&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">ATTRV122I amyloidosis </a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1194/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.diseaseinfosearch.org/x/7683" 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/transthyretin-amyloidosis" 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=105210[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
|
|
<div id="mimOrphanetFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=271861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Hereditary ATTR amyloidosis</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85447" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">ATTRV30M amyloidosis</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">ATTRV122I amyloidosis</a></div>
|
|
</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:0050638" 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/105210" 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/OMIA000037/" 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:0050638" 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:105210" 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>ORPHA:</strong> 271861, 85447, 85451<br />
|
|
|
|
|
|
<strong>DO:</strong> 0050638<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>
|
|
105210
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
AMYLOIDOSIS, HEREDITARY SYSTEMIC 1; AMYLD1
|
|
|
|
</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">
|
|
HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED<br />
|
|
TRANSTHYRETIN AMYLOIDOSIS<br />
|
|
AMYLOID POLYNEUROPATHY, FAMILIAL; FAP
|
|
</span>
|
|
</h4>
|
|
</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/18/119?start=-3&limit=10&highlight=119">
|
|
18q12.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Amyloidosis, hereditary, transthyretin-related
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105210"> 105210 </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">
|
|
TTR
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176300"> 176300 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/105210" 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/PS105210" 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/105210" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/105210" 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">
|
|
|
|
- Amyloid deposition in the vitreous humor (variable expression) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862963</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007841" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007841</a>]</span><br /> -
|
|
Visual impairment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246635007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246635007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397540003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042798</a>, <a href="https://bioportal.bioontology.org/search?q=C3665347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665347</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000505</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000505</a>]</span><br /> -
|
|
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8186001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8186001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/429.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">429.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018800&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018800</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001640</a>]</span><br /> -
|
|
Cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85898001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85898001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57809008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57809008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span><br /> -
|
|
Conduction block <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233916004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233916004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018794</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012722</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Orthostatic hypotension due to autonomic dysfunction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004926</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004926</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28651003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28651003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I95.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I95.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/458.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">458.0</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">
|
|
|
|
- Gastrointestinal dysautonomia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549456</a>]</span><br /> -
|
|
Diarrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267060006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267060006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R19.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R19.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011991</a>, <a href="https://bioportal.bioontology.org/search?q=C2169706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002014" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002014</a>]</span><br /> -
|
|
Constipation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14760008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14760008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/564.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/564.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009806</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</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> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Erectile dysfunction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/860914002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">860914002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N52.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N52.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N52</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F52.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F52.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242350</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100639</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000802" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000802</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100639</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Urinary incontinence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165232002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165232002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R32</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/788.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.30</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/788.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042024&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042024</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000020</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle weakness due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549453</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br />
|
|
|
|
</span>
|
|
</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">
|
|
|
|
- Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
|
|
Paraplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60389000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60389000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G82.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G82.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G82.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G82.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/344.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">344.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030486</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010550</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010550</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Stroke-like episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857287&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857287</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002401</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002401" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002401</a>]</span><br /> -
|
|
Headache <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25064002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25064002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R51.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</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 /> -
|
|
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 /> -
|
|
Deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br /> -
|
|
Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</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 /> -
|
|
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Autonomic dysfunction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15241006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15241006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G90.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">337</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/337.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">337.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1145628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1145628</a>, <a href="https://bioportal.bioontology.org/search?q=C0013363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013363</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012332</a>]</span><br /> -
|
|
Cerebrospinal fluid (CSF) with increased protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1806780&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1806780</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002922</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002922</a>]</span><br /> -
|
|
Amyloid deposition in the leptomeningeal vessels, brainstem, spinal cord <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862960</a>]</span><br /> -
|
|
Diffuse leptomeningeal enhancement seen on MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549451&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549451</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 axonal neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128208007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128208007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1263857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1263857</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003477</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003477</a>]</span><br /> -
|
|
Sensory axonal polyneuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0857382&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0857382</a>]</span><br /> -
|
|
Ascending numbness and weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549452</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 /> -
|
|
Carpal tunnel syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57406009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57406009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G56.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G56.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G56.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G56.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/354.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">354.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007286&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007286</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012185</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">
|
|
|
|
- Onset in adulthood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
|
|
Highly variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839039</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
|
|
Neuropathic, cardiac, leptomeningeal, and ocular predominance may occur<br /> -
|
|
Systemic amyloid deposition may occur<br /> -
|
|
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</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 mutation in the transthyretin gene (TTR, <a href="/entry/176300#0001">176300.0001</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>
|
|
Amyloidosis, hereditary systemic
|
|
- <a href="/phenotypicSeries/PS105210">PS105210</a>
|
|
- 6 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/4/619?start=-3&limit=10&highlight=619"> 4q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105200"> Amyloidosis, hereditary systemic 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/105200"> 105200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134820"> FGA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/134820"> 134820 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/466?start=-3&limit=10&highlight=466"> 9q33.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105120"> Amyloidosis, Finnish type </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/105120"> 105120 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137350"> GSN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137350"> 137350 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/960?start=-3&limit=10&highlight=960"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620657"> Amyloidosis, hereditary systemic 3 </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/620657"> 620657 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/107680"> APOA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/107680"> 107680 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/608?start=-3&limit=10&highlight=608"> 12q15 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620658"> Amyloidosis, hereditary systemic 5 </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/620658"> 620658 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153450"> LYZ </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153450"> 153450 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/170?start=-3&limit=10&highlight=170"> 15q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620659"> Amyloidosis, hereditary systemic 6 </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/620659"> 620659 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/109700"> B2M </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/109700"> 109700 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/119?start=-3&limit=10&highlight=119"> 18q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105210"> Amyloidosis, hereditary, transthyretin-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/105210"> 105210 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176300"> TTR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176300"> 176300 </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 hereditary systemic amyloidosis-1 (AMYLD1) is caused by heterozygous mutation in the TTR gene (<a href="/entry/176300">176300</a>) on chromosome 18q12.</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>Hereditary amyloidoses are a clinically and genetically heterogeneous group of autosomal dominantly inherited diseases characterized by the deposit of unsoluble protein fibrils in the extracellular matrix. Patients with AMYLD1 typically present with polyneuropathy, carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal features, occasionally accompanied by vitreous opacities and renal insufficiency. In later stages of the disease severe diarrhea with malabsorption, cachexia, incapacitating neuropathy, severe cardiac disturbances, and marked orthostatic hypotension dominate the clinical picture. Death usually occurs 5 to 15 years after onset of symptoms (summary by <a href="#44" class="mim-tip-reference" title="Hund, E., Linke, R. P., Willig, M. D., Grau, A. <strong>Transthyretin-associated neuropathic amyloidosis: pathogenesis and treatment.</strong> Neurology 56: 431-435, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11261421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11261421</a>] [<a href="https://doi.org/10.1212/wnl.56.4.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11261421">Hund et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11261421" 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>Reviews</em></strong></p><p>
|
|
<a href="#4" class="mim-tip-reference" title="Ando, Y., Nakamura, M., Araki, S. <strong>Transthyretin-related familial amyloidotic polyneuropathy.</strong> Arch. Neurol. 62: 1057-1062, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16009758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16009758</a>] [<a href="https://doi.org/10.1001/archneur.62.7.1057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16009758">Ando et al. (2005)</a> provided a review of transthyretin-related familial amyloid polyneuropathy. The authors stated that the phenotypes can be classified into neuropathic, oculoleptomeningeal, and cardiac. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16009758" 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="Adams, D., Koike, H., Slama, M., Coelho, T. <strong>Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.</strong> Nat. Rev. Neurol. 15: 387-404, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31209302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31209302</a>] [<a href="https://doi.org/10.1038/s41582-019-0210-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31209302">Adams et al. (2019)</a> reviewed hereditary transthyretin amyloidosis, discussing epidemiology, phenotypic heterogeneity, genetic heterogeneity and its influence on age of onset, pathophysiology, and the success of phase III studies of gene-silencing therapies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31209302" 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>Genetic Heterogeneity of Hereditary Systemic Amyloidosis</em></strong></p><p>
|
|
AMYLD2 (<a href="/entry/105200">105200</a>) is caused by mutation in the fibrinogen A-alpha gene (FGA; <a href="/entry/134820">134820</a>) on chromosome 4q31.</p><p>AMYLD3 (<a href="/entry/620657">620657</a>) is caused by mutation in the apolipoprotein A-1 gene (APOA1; <a href="/entry/107680">107680</a>) on chromosome 11q23.</p><p>AMYLD4 (<a href="/entry/105120">105120</a>), or Finnish amyloidosis, is caused by mutation in the gelsolin gene (GSN; <a href="/entry/137350">137350</a>) on chromosome 9q33.</p><p>AMYLD5 (<a href="/entry/620658">620658</a>) is caused by mutation in the lysozyme gene (LYZ; <a href="/entry/153450">153450</a>) on chromosome 12q15.</p><p>AMYLD6 (<a href="/entry/620659">620659</a>) is caused by mutation in the beta-2 microglobulin gene (B2M; <a href="/entry/109700">109700</a>) on chromosome 15q21.</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><strong><em>Familial Amyloid Polyneuropathy</em></strong></p><p>
|
|
Familial amyloid polyneuropathy (FAP) was described by <a href="#7" class="mim-tip-reference" title="Andrade, C. <strong>A peculiar form of peripheral neuropathy: familial atypical generalised amyloidosis with special involvement of peripheral nerves.</strong> Brain 75: 408-427, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12978172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12978172</a>] [<a href="https://doi.org/10.1093/brain/75.3.408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12978172">Andrade (1952)</a> in the northern area of Portugal (reviewed by <a href="#65" class="mim-tip-reference" title="Saraiva, M. J. M. <strong>Transthyretin mutations in hyperthyroxinemia and amyloid diseases.</strong> Hum. Mutat. 17: 493-503, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11385707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11385707</a>] [<a href="https://doi.org/10.1002/humu.1132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11385707">Saraiva, 2001</a>). Kindreds had an age of onset of clinical symptoms in the third or fourth decade of life. Early impairment of temperature and pain sensation in the feet and autonomic dysfunction leading to paresis, malabsorption, sphincter dysfunction, electrocardiographic abnormalities, emaciation, and death were typical clinical features. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12978172+11385707" 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>Age at onset varies greatly; within the ethnically and genetically homogeneous Portuguese population, age at onset was between 17 and 78 in the 1,233 patients examined to 1995 (<a href="#44" class="mim-tip-reference" title="Hund, E., Linke, R. P., Willig, M. D., Grau, A. <strong>Transthyretin-associated neuropathic amyloidosis: pathogenesis and treatment.</strong> Neurology 56: 431-435, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11261421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11261421</a>] [<a href="https://doi.org/10.1212/wnl.56.4.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11261421">Hund et al., 2001</a>). Most patients present in the third or fourth decade, but onset of symptoms may be delayed until old age (<a href="#14" class="mim-tip-reference" title="Benson, M. D. <strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. 4. (8th ed.)</strong> New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378."None>Benson, 2001</a>). Clinical disease usually progresses over 5 to 15 years and ends with death from cardiac failure, renal failure, or malnutrition. However, in some kindreds heterozygotes with late-onset disease have lived past age 90. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11261421" 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="#25" class="mim-tip-reference" title="De Navasquez, S., Treble, H. A. <strong>A case of primary generalized amyloid disease with involvement of the nerves.</strong> Brain 61: 116-128, 1938."None>De Navasquez and Treble (1938)</a> reported a possible case of FAP type I and showed that the patient reported by <a href="#24" class="mim-tip-reference" title="De Bruyn, R. S., Stern, R. O. <strong>A case of the progressive hypertrophic polyneuritis of Dejerine and Sottas, with pathological examination.</strong> Brain 52: 84-107, 1929."None>De Bruyn and Stern (1929)</a> as Dejerine-Sottas progressive hypertrophic polyneuropathy (<a href="/entry/145900">145900</a>) had in fact suffered from amyloid neuropathy. Since the disorder began with 'pains in the arms, which worried him particularly at night whilst in bed,' he may have suffered from the Indiana variety (<a href="/entry/176300#0006">176300.0006</a>). Onset was in the 40s. Two brothers and a sister had died of an identical condition 3 years after onset of symptoms. 'The father died of tubercle, the mother of old age.' The disease is milder in females. Vitreous opacities are frequent (<a href="#50" class="mim-tip-reference" title="Kaufman, H. E., Thomas, L. B. <strong>Vitreous opacities diagnostic of familial primary amyloidosis.</strong> New Eng. J. Med. 261: 1267-1271, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14404854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14404854</a>] [<a href="https://doi.org/10.1056/NEJM195912172612503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14404854">Kaufman and Thomas, 1959</a>). In both FAP I and FAP II (see <a href="/entry/176300#0006">176300.0006</a>), the amyloid is pericollagenous. In familial Mediterranean fever, it is perireticular. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14404854" 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="#21" class="mim-tip-reference" title="Costa, P. P., Figueira, A. S., Bravo, F. R. <strong>Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.</strong> Proc. Nat. Acad. Sci. 75: 4499-4503, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/279930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">279930</a>] [<a href="https://doi.org/10.1073/pnas.75.9.4499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="279930">Costa et al. (1978)</a> concluded that the amyloid of familial amyloid polyneuropathy is distinct from the amyloid of acquired 'primary' and 'secondary' amyloidosis and of familial Mediterranean fever. They also concluded that it is closely related to prealbumin, or transthyretin. Interestingly, 'senile' cardiac amyloid (see later) is also derived from prealbumin and is indistinguishable from the amyloid of the hereditary amyloid neuropathies (<a href="#36" class="mim-tip-reference" title="Gorevic, P. D., Pras, M., Wright, J. R., Frangione, B. <strong>'Senile' cardiac amyloidosis: isolation of fibrils and immunohistological identity with heredofamilial neuropathic amyloid due to tissue deposition of prealbumin. (Abstract)</strong> Clin. Res. 30: 349A, 1982."None>Gorevic et al., 1982</a>). (Immunoglobulin light chains are the origin of primary amyloid and AA protein is the origin of secondary amyloid.) <a href="#21" class="mim-tip-reference" title="Costa, P. P., Figueira, A. S., Bravo, F. R. <strong>Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.</strong> Proc. Nat. Acad. Sci. 75: 4499-4503, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/279930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">279930</a>] [<a href="https://doi.org/10.1073/pnas.75.9.4499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="279930">Costa et al. (1978)</a> were studying cases of the Andrade type of familial amyloidosis; Benson (<a href="#10" class="mim-tip-reference" title="Benson, M. D. <strong>Characterization of an amyloid fibril protein in heredofamilial amyloidosis. (Abstract)</strong> Clin. Res. 28: 340A, 1980."None>1980</a>, <a href="#11" class="mim-tip-reference" title="Benson, M. D. <strong>Partial amino acid sequence homology between an heredofamilial amyloid protein and human plasma prealbumin.</strong> J. Clin. Invest. 67: 1035-1041, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6782125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6782125</a>] [<a href="https://doi.org/10.1172/jci110114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6782125">1981</a>) was presumably studying cases of the Indiana or Rukavina type (<a href="/entry/176300#0006">176300.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=279930+6782125" 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 Swedish kindred reported by <a href="#8" class="mim-tip-reference" title="Benson, M. D., Cohen, A. S. <strong>Generalized amyloid in a family of Swedish origin: a study of 426 family members in 7 generations of a new kinship with neuropathy, nephropathy and central nervous system involvement.</strong> Ann. Intern. Med. 86: 419-424, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/192115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">192115</a>] [<a href="https://doi.org/10.7326/0003-4819-86-4-419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="192115">Benson and Cohen (1977)</a>, affected persons presented with peripheral neuropathy in the fourth and fifth decades. A progressive sensory and motor loss started in the legs. Subsequently, renal, cardiac, gastrointestinal, ocular, and cutaneous involvement occurred. Histologically, amyloid deposition was mainly in connective tissue, including the unusual sites of the meninges and central nervous system. No abnormality of immunoglobulin or elevation of protein SAA (the serum precursor of secondary amyloid; <a href="/entry/104750">104750</a>) was found. Some of the patients had been misdiagnosed as having syringomyelia. <a href="#11" class="mim-tip-reference" title="Benson, M. D. <strong>Partial amino acid sequence homology between an heredofamilial amyloid protein and human plasma prealbumin.</strong> J. Clin. Invest. 67: 1035-1041, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6782125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6782125</a>] [<a href="https://doi.org/10.1172/jci110114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6782125">Benson (1981)</a> showed partial amino acid sequence homology between human plasma prealbumin and the amyloid deposited in a member of this kindred. <a href="#55" class="mim-tip-reference" title="Libbey, C. A., Rubinow, A., Shirahama, T., Deal, C., Cohen, A. S. <strong>Familial amyloid polyneuropathy: demonstration of prealbumin in a kinship of German/English ancestry with onset in the seventh decade.</strong> Am. J. Med. 76: 18-24, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6691355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6691355</a>] [<a href="https://doi.org/10.1016/0002-9343(84)90739-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6691355">Libbey et al. (1984)</a> reported a Texas kindred of German-English ancestry with familial amyloid polyneuropathy showing onset in the seventh decade. By an immunoperoxidase technique, prealbumin was demonstrated in the amyloid deposits. <a href="#58" class="mim-tip-reference" title="Munsat, T. L., Poussaint, A. F. <strong>Clinical manifestations and diagnosis of amyloid polyneuropathy: report of three cases.</strong> Neurology 12: 413-422, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14477245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14477245</a>] [<a href="https://doi.org/10.1212/wnl.12.6.413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14477245">Munsat and Poussaint (1962)</a> described the case of a patient also born in Texas with onset of type I FAP at age 59 years. <a href="#69" class="mim-tip-reference" title="Sequeiros, J. <strong>Personal Communication.</strong> Baltimore, Md. 2/1984."None>Sequeiros (1984)</a> suggested that this variation may be due to genetic heterogeneity and that these may be allelic disorders. By amino acid sequencing of abnormal transthyretin in these cases, it is now possible to confirm or reject this hypothesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=192115+14477245+6782125+6691355" 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="Sequeiros, J., Saraiva, M. J. M. <strong>Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR (met30) mutation in hereditary amyloid neuropathy: type I (Portuguese, Andrade).</strong> Am. J. Med. Genet. 27: 345-357, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3037905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3037905</a>] [<a href="https://doi.org/10.1002/ajmg.1320270213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3037905">Sequeiros and Saraiva (1987)</a> reported a Portuguese-American family originating from Madeira in which amyloid neuropathy due to the usual met30 mutation had its onset in the seventh decade in all affected members of the family. Three asymptomatic relatives (aged 90, 73, and 48) were shown to carry the mutation. Possible mechanisms for the lack of penetrance and the variation in severity were discussed. <a href="#47" class="mim-tip-reference" title="Ikeda, S.-I., Hanyu, N., Hongo, M., Yoshioka, J., Oguchi, H., Yanagisawa, N., Kobayashi, T., Tsukagoshi, H., Ito, N., Yokota, T. <strong>Hereditary generalized amyloidosis with polyneuropathy: clinicopathological study of 65 Japanese patients.</strong> Brain 110: 315-337, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3032328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3032328</a>] [<a href="https://doi.org/10.1093/brain/110.2.315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3032328">Ikeda et al. (1987)</a> reported clinicopathologic studies of patients with amyloid polyneuropathy in Japan. One group of patients was from Arao City in the southern island of Kiushu; a second group was from Ogawa village in Nagano Prefecture, located in a mountain valley in the central highlands of Japan. Considerable variability of the clinical picture was noted in the second group. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3032328+3037905" 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="#79" class="mim-tip-reference" title="Yamada, M., Tsukagoshi, H., Satoh, J., Ishiai, S., Nakazato, M., Furuya, H., Sasaki, H., Sakaki, Y., Yokota, T. <strong>'Sporadic' prealbumin-related amyloid polyneuropathy: report of two cases.</strong> J. Neurol. 235: 69-73, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2828557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2828557</a>] [<a href="https://doi.org/10.1007/BF00718012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2828557">Yamada et al. (1987)</a> described 2 Japanese nonfamilial cases of prealbumin-related amyloid polyneuropathy and referred to other published cases. These may represent new mutations. The molecular nature of the mutations was not determined. The findings of <a href="#72" class="mim-tip-reference" title="Tanaka, M., Hirai, S., Matsubara, E., Okamoto, K., Morimatsu, M., Nakazato, M. <strong>Familial amyloidotic polyneuropathy without familial occurrence: carrier detection by the radioimmunoassay of variant transthyretin.</strong> J. Neurol. Neurosurg. Psychiat. 51: 576-578, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3379433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3379433</a>] [<a href="https://doi.org/10.1136/jnnp.51.4.576" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3379433">Tanaka et al. (1988)</a> are pertinent. They described a 47-year-old Japanese woman with FAP without apparent familial occurrence of the disorder; however, her 81-year-old mother and 53-year-old sister were found to be asymptomatic carriers of the variant transthyretin as determined by radioimmunoassay. Biopsy of abdominal adipose tissue in the elderly mother showed amyloid deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3379433+2828557" 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>An autosomal dominant form of familial amyloid polyneuropathy in a Japanese kindred originating in the Nagasaki region was described by <a href="#74" class="mim-tip-reference" title="Ueno, S., Nakamura, Y., Takahashi, M., Tarui, S., Sasaki, H. <strong>'Nonprealbumin-related' familial amyloid polyneuropathy.</strong> Neurology 38: 333-334, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2829057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2829057</a>] [<a href="https://doi.org/10.1212/wnl.38.2.333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2829057">Ueno et al. (1988)</a>. The clinical phenotype most closely resembled that of type I FAP. Clinical manifestations began in the third decade. Affected individuals developed a polyneuropathy of the lower limbs and autonomic dysfunction. Vitreous opacities were seen in 6 of the 9 patients. Typically, death occurred 6 to 15 years after the onset of symptoms. Biopsy specimens from stomach, rectum, and sural nerve stained positive with Congo red. By electron microscopic analysis, amyloid was identified. Immunohistochemical staining with antisera to immunoglobulin light chain, A protein, and prealbumin was negative. Extracted amyloid fibrils did not react with anti-prealbumin serum. Biochemical analysis of the extracted protein showed no resemblance to prealbumin. Southern blot analysis failed to demonstrate any of the restriction fragment sites generated by known prealbumin variants in familial amyloid polyneuropathy. The authors concluded that this is an autosomal dominant variety of amyloidosis, which is not associated with the deposition of a prealbumin-related protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2829057" 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="#22" class="mim-tip-reference" title="Coutinho, P., Sequeiros, J. <strong>Familial amyloidotic polyneuropathy and Machado-Joseph disease: two rare autosomal dominant neurologic diseases in the same family: the 'Iiyama type' of FAP? (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A43, 1989."None>Coutinho and Sequeiros (1989)</a> described a Portuguese family in which the Andrade type of familial amyloidopathy coexisted with Machado-Joseph disease (<a href="/entry/109150">109150</a>). Although no individual with both diseases was observed, they considered it not unexpected that they might occur together because of the relatively high frequency of both conditions in one area of Portugal.</p><p><a href="#63" class="mim-tip-reference" title="Sandgren, O., Drugge, U., Holmgren, G., Sousa, A. <strong>Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study.</strong> Clin. Genet. 40: 452-460, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1685700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1685700</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03117.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1685700">Sandgren et al. (1991)</a> published skeleton pedigrees showing the common ancestry in the 17th century of seemingly unrelated individuals alive currently. Patients who had vitreous opacities as a first symptom seemed to form a separate group with a later average age of onset. <a href="#63" class="mim-tip-reference" title="Sandgren, O., Drugge, U., Holmgren, G., Sousa, A. <strong>Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study.</strong> Clin. Genet. 40: 452-460, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1685700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1685700</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03117.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1685700">Sandgren et al. (1991)</a> speculated that additional familial factors may modify the expression of the FAP gene, resulting in vitreous opacities. The mean age of onset for vitreous opacities was lower for homozygous than for heterozygous patients. Six homozygotes were shown in their pedigree charts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1685700" 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>Although the clinical manifestations and natural history vary, most forms of amyloidosis have polyneuropathy as the predominant feature. The amyloid polyneuropathy tends to involve small unmyelinated fibers, disproportionately affecting the autonomic nervous system in sensations of pain and temperature. <a href="#6" class="mim-tip-reference" title="Ando, Y., Yamashita, T., Tanaka, Y., Tashima, K., Yonehara, T., Gotoh, T., Sakashita, N., Uchino, M., Ando, M. <strong>Role of nitric oxide in the peripheral vessels of patients with familial amyloidotic polyneuropathy (FAP) type I.</strong> J. Auton. Nerv. Syst. 50: 79-85, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7844317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7844317</a>] [<a href="https://doi.org/10.1016/0165-1838(94)90125-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7844317">Ando et al. (1994)</a> demonstrated that blood flow was decreased in the peripheral tissues of amyloidosis patients and suggested that this effect could be mediated in part by a decreased production of nitric oxide, also known as endothelial-derived relaxing factor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7844317" 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 substitution of methionine for valine at position 30 (GTG-to-ATG) results in the classic Swedish-Portuguese-Japanese amyloid polyneuropathy first delineated by Andrade of Porto, Portugal. The clinical phenotype is a progressive small fiber neuropathy leading predominantly to sensory and autonomic dysfunction. <a href="#28" class="mim-tip-reference" title="Ducla-Soares, J., Alves, M. M., Carvalho, M., Povoa, P., Conceicao, I., Sales Luis, M. L. <strong>Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type.</strong> Acta Neurol. Scand. 90: 266-269, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7839813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7839813</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1994.tb02719.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7839813">Ducla-Soares et al. (1994)</a> studied 47 individuals with this disorder and found that autonomic dysfunction is the first manifestation in a significant proportion of patients, frequently preceding standard clinical neurologic or electroneurodiagnostic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7839813" 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="Ando, Y., Tanaka, Y., Nakazato, M., Ericzon, B.-G., Yamashita, T., Tashima, K., Sakashita, N., Suga, M., Uchino, M., Ando, M. <strong>Change in variant transthyretin levels in patients with familial amyloidotic polyneuropathy type I following liver transplantation.</strong> Biochem. Biophys. Res. Commun. 211: 354-358, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7794243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7794243</a>] [<a href="https://doi.org/10.1006/bbrc.1995.1820" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7794243">Ando et al. (1995)</a> found that in a patient with type I familial amyloidotic polyneuropathy who underwent liver transplantation without blood transfusion during the operation, variant TTR levels decreased in a time-dependent manner. Plasma half-life of variant TTR was calculated to be 2.1 days. Total protein, normal, and variant TTR levels in cerebrospinal fluid remained unchanged after liver transplantation, however. The authors speculated that, since autonomic dysfunction and sensorineuropathy significantly improve after liver transplantation (see later), the variant TTR produced by the choroid plexus may play only a small role in amyloid deposition in tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7794243" 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="#54" class="mim-tip-reference" title="Kyle, R. A. <strong>Amyloidosis: a convoluted story.</strong> Brit. J. Haemat. 114: 529-538, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11552976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11552976</a>] [<a href="https://doi.org/10.1046/j.1365-2141.2001.02999.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11552976">Kyle (2001)</a> provided a historical review of the development of knowledge concerning amyloidosis, including familial forms. He cited the family reported by <a href="#24" class="mim-tip-reference" title="De Bruyn, R. S., Stern, R. O. <strong>A case of the progressive hypertrophic polyneuritis of Dejerine and Sottas, with pathological examination.</strong> Brain 52: 84-107, 1929."None>De Bruyn and Stern (1929)</a> as one of the earliest. The proband was a 52-year-old man who had had pain and numbness in his limbs for 3 years. He had a loss of energy and appetite and then developed severe diarrhea. Two brothers and a sister had died of a similar illness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11552976" 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="#45" class="mim-tip-reference" title="Ikeda, S., Nakazato, M., Ando, Y., Sobue, G. <strong>Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.</strong> Neurology 58: 1001-1007, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940682</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940682">Ikeda et al. (2002)</a> reviewed clinical findings and other aspects of familial amyloid polyneuropathy in Japan. They concluded that there is wide variability in phenotype, even among those with the same genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940682" 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="#52" class="mim-tip-reference" title="Koike, H., Misu, K., Sugiura, M., Iijima, M., Mori, K., Yamamoto, M., Hattori, N., Mukai, E., Ando, Y., Ikeda, S., Sobue, G. <strong>Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy.</strong> Neurology 63: 129-138, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15249622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15249622</a>] [<a href="https://doi.org/10.1212/01.wnl.0000132966.36437.12" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15249622">Koike et al. (2004)</a> compared the pathologic findings of 11 Japanese patients with onset of FAP before age 50 years who were from the 2 FAP-endemic regions in Japan to that of 11 Japanese patients with later-onset who were not from the 2 endemic regions. All patients carried the common V30M mutation in the TTR gene (<a href="/entry/176300#0001">176300.0001</a>). Sural nerve biopsies in the early-onset cases showed predominant loss of small myelinated fibers. Sural nerve biopsies of late-onset cases showed variable fiber size distribution, axonal sprouting, more total loss of myelinated fibers, and relatively preserved unmyelinated fibers. Postmortem studies in both groups showed amyloid deposition throughout the length of nerves and in sympathetic and sensory ganglia, but deposition was greater in the early-onset cases. Early-onset cases also showed greater neuronal cell loss in sympathetic ganglia compared to dorsal root ganglia; the opposite was true in late-onset cases. TTR-positive, Congo red-negative amorphous material was more conspicuous in nerves from late- than early-onset cases. In extraneural sites, amyloid was more conspicuous in thyroid and kidney from early-onset cases, and in heart and hypophysis from late-onset cases. In early-onset cases, cardiac amyloid deposition was prominent in the atrium and subendocardium, but was conspicuous throughout the myocardium in late-onset cases. <a href="#52" class="mim-tip-reference" title="Koike, H., Misu, K., Sugiura, M., Iijima, M., Mori, K., Yamamoto, M., Hattori, N., Mukai, E., Ando, Y., Ikeda, S., Sobue, G. <strong>Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy.</strong> Neurology 63: 129-138, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15249622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15249622</a>] [<a href="https://doi.org/10.1212/01.wnl.0000132966.36437.12" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15249622">Koike et al. (2004)</a> concluded that the pathology of early- and late-onset FAP TTR V30M mutation carriers correlated well with differences in clinical findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15249622" 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="Liu, Y.-T., Lee, Y.-C., Yang, C.-C., Chen, M.-L., Lin, K.-P. <strong>Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression.</strong> J. Neurol. Sci. 267: 91-99, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18022643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18022643</a>] [<a href="https://doi.org/10.1016/j.jns.2007.10.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18022643">Liu et al. (2008)</a> reported 5 unrelated Chinese Taiwanese patients with adult-onset rapidly progressive TTR-related amyloidosis. The average age at onset was 51 years. Four presented with paresthesia of the limbs and 1 with diarrhea. Clinical features related to the polyneuropathy included areflexia, impaired sensation, muscle weakness, and carpal tunnel syndrome. Sural nerve biopsy showed axonal degeneration and amyloid deposits. Autonomic dysfunction manifested as orthostatic hypotension, gastrointestinal dysautonomia, erectile dysfunction, and urinary retention. Two patients, and the affected mother of 1 of the patients, had cardiac dysfunction, including arrhythmia, cardiac hypertrophy, and heart failure. One patient had chronic renal dysfunction. All carried the same heterozygous mutation in the TTR gene (A97S; <a href="/entry/176300#0052">176300.0052</a>). <a href="#81" class="mim-tip-reference" title="Yang, N. C.-C., Lee, M.-J., Chao, C.-C., Chuang, Y.-T., Lin, W.-M., Chang, M.-F., Hsieh, P.-C., Kan, H.-W., Lin, Y.-H., Yang, C.-C., Chiu, M.-J., Liou, H.-H., Hsieh, S.-T. <strong>Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser.</strong> Neurology 75: 532-538, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20697105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20697105</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181ec7fda" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20697105">Yang et al. (2010)</a> reported 19 unrelated Taiwanese patients with FAP and the A97S mutation. Symptom onset ranged from 48 to 68 years, and severe disease progression occurred within 5 years. All had motor, sensory, and autonomic symptoms with loss of sensation to thermal stimuli and loss of proprioception. Seven patients showed additional rapid declines in neurologic function associated with elevation of protein content in the CSF. Sural nerve biopsies showed an eosinophilic deposition of TTR-positive amyloid and a pattern of axonal degeneration with loss of large and small myelinated fibers. Skin biopsies of all patients showed a severe loss of intraepidermal nerve fiber density and sparse degenerated fragmented dermal nerve fibers compared to controls; degree of loss of these fibers correlated with clinical severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18022643+20697105" 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>Cardiac Amyloidosis</em></strong></p><p>
|
|
Three mutations in TTR are notable for their association with amyloidosis presenting as cardiomyopathy without a significant degree of peripheral neuropathy (<a href="#13" class="mim-tip-reference" title="Benson, M. D. <strong>Inherited amyloidosis.</strong> J. Med. Genet. 28: 73-78, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1848299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1848299</a>] [<a href="https://doi.org/10.1136/jmg.28.2.73" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1848299">Benson, 1991</a>). A thr60-to-ala substitution (T60A; <a href="/entry/176300#0004">176300.0004</a>) resulted in amyloidosis formerly termed 'Appalachian type' that was characterized by restrictive cardiomyopathy and autonomic dysfunction. A leu111-to-met mutation (L111M; <a href="/entry/176300#0007">176300.0007</a>) was identified in a single Danish family with cardiac amyloidosis and no evidence of peripheral neuropathy. A val122-to-ile substitution (V122I; <a href="/entry/176300#0009">176300.0009</a>) is associated with late-onset restrictive cardiomyopathy without significant peripheral neuropathy. This mutation is particularly frequent in African Americans, with an estimated allele frequency of 3.9%; after the age of 60, isolated cardiac amyloidosis is 4 times more common among blacks than whites in the United States (<a href="#49" class="mim-tip-reference" title="Jacobson, D. R., Pastore, R. D., Yaghoubian, R., Kane, I., Gallo, G., Buck, F. S., Buxbaum, J. N. <strong>Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in Black Americans.</strong> New Eng. J. Med. 336: 466-473, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9017939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9017939</a>] [<a href="https://doi.org/10.1056/NEJM199702133360703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9017939">Jacobson et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9017939+1848299" 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>Leptomeningeal Amyloidosis</em></strong></p><p>
|
|
Leptomeningeal amyloidosis is distinct from other forms of transthyretin amyloidosis in that it exhibits primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment ('oculoleptomeningeal amyloidosis') (<a href="#76" class="mim-tip-reference" title="Vidal, R., Garzuly, F., Budka, H., Lalowski, M., Linke, R. P., Brittig, F., Frangione, B., Wisniewski, T. <strong>Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTR D18G).</strong> Am. J. Path. 148: 361-366, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8579098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8579098</a>]" pmid="8579098">Vidal et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8579098" 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 Hessian (German) kindred living in Ohio, <a href="#35" class="mim-tip-reference" title="Goren, H., Steinberg, M. C., Farboody, G. H. <strong>Familial oculoleptomeningeal amyloidosis.</strong> Brain 103: 473-495, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7417777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7417777</a>] [<a href="https://doi.org/10.1093/brain/103.3.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7417777">Goren et al. (1980)</a> described a form of autosomal dominant amyloidosis with manifestations limited to central nervous and ocular dysfunction: dementia, seizures, strokes, coma, and visual deterioration. The cerebrospinal fluid was xanthochromic with lymphocytic pleocytosis and elevated protein. Neurologic dysfunction was episodic, suggesting transient cortical ischemia. The seizures were attributed to small, superficial cortical infarcts resulting from occluded subarachnoid vessels. Obtundation and headache were attributed to intermittent hydrocephalus. Pathologic examinations showed severe, diffuse amyloidosis of the leptomeninges and subarachnoid vessels associated with patchy fibrosis and obliteration of the subarachnoid space. Amyloid deposits were prominent on the ependymal surfaces. Severe and diffuse neuronal loss and generalized subpial gliosis were found in the cerebrum and cerebellum, as well as occasional superficial brain infarcts. Amyloid was also found in the vitreous, the retinal internal limiting membrane, and the retinal vessels, particularly those in the nerve fiber layer. Only minimal amyloid deposition was found elsewhere. At least 5 instances of male-to-male transmission were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7417777" 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="#26" class="mim-tip-reference" title="Dowell, J. D., Fleck, J. D., Vakili, S. T., Benson, M. D. <strong>Familial oculoleptomeningeal amyloidosis associated with primary angiitis of the CNS.</strong> Neurology 68: 77-78, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17200500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17200500</a>] [<a href="https://doi.org/10.1212/01.wnl.0000250343.34110.79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17200500">Dowell et al. (2007)</a> reported another affected member of the family reported by <a href="#35" class="mim-tip-reference" title="Goren, H., Steinberg, M. C., Farboody, G. H. <strong>Familial oculoleptomeningeal amyloidosis.</strong> Brain 103: 473-495, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7417777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7417777</a>] [<a href="https://doi.org/10.1093/brain/103.3.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7417777">Goren et al. (1980)</a>. She was a 45-year-old woman who presented with progressive central nervous system (CNS) dysfunction over 4 months. Initial symptoms included headache, emesis, aphasia, facial weakness, and lower extremity paresthesias and weakness which progressed to paraplegia, incontinence, visual impairment, and deafness. She had hydrocephalus and died 3 months later. Postmortem examination showed extensive granulomatous vasculitis and inflammation of the leptomeninges consistent with primary angiitis of the CNS. Cerebral blood vessels showed congophilic red staining, and there was infarction and degeneration at all levels of the spinal cord. <a href="#26" class="mim-tip-reference" title="Dowell, J. D., Fleck, J. D., Vakili, S. T., Benson, M. D. <strong>Familial oculoleptomeningeal amyloidosis associated with primary angiitis of the CNS.</strong> Neurology 68: 77-78, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17200500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17200500</a>] [<a href="https://doi.org/10.1212/01.wnl.0000250343.34110.79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17200500">Dowell et al. (2007)</a> suggested that amyloid deposition may have induced an inflammatory reaction resulting in vasculitis in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7417777+17200500" 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="#75" class="mim-tip-reference" title="Uitti, R. J., Donat, J. R., Rozdilsky, B., Schneider, R. J., Koeppen, A. H. <strong>Familial oculoleptomeningeal amyloidosis: report of a new family with unusual features.</strong> Arch. Neurol. 45: 1118-1122, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3178532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3178532</a>] [<a href="https://doi.org/10.1001/archneur.1988.00520340072015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3178532">Uitti et al. (1988)</a> described a Canadian family of Italian origin in which 3 members had oculoleptomeningeal amyloidosis. The 3 affected members of the family were twin brothers and the son of 1 of them. The clinical features were hemiplegic migraine, periodic obtundation, psychiatric symptoms, seizures, intracerebral hemorrhage, visual impairment, deafness, dysarthria, myelopathy, spasticity, and polyneuropathy. Onset was in the teens or twenties, with death ranging from age 29 to 62. Histopathologic findings were mainly amyloid deposition in the leptomeningeal and retinal vessels, in the vitreous humor, and in perivascular tissue throughout the body. Evaluation of the amyloid showed it to be derived from transthyretin. <a href="#75" class="mim-tip-reference" title="Uitti, R. J., Donat, J. R., Rozdilsky, B., Schneider, R. J., Koeppen, A. H. <strong>Familial oculoleptomeningeal amyloidosis: report of a new family with unusual features.</strong> Arch. Neurol. 45: 1118-1122, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3178532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3178532</a>] [<a href="https://doi.org/10.1001/archneur.1988.00520340072015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3178532">Uitti et al. (1988)</a> pointed to cases reported by <a href="#38" class="mim-tip-reference" title="Hamburg, A. <strong>Unusual cause of vitreous opacities: primary familial amyloidosis.</strong> Ophthalmologica 162: 173-177, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5089749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5089749</a>] [<a href="https://doi.org/10.1159/000306260" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5089749">Hamburg (1971)</a> and by <a href="#59" class="mim-tip-reference" title="Okayama, M., Goto, I., Ogata, J., Omae, T., Yoshida, I., Inomata, H. <strong>Primary amyloidosis with familial vitreous opacities: an unusual case and family.</strong> Arch. Intern. Med. 138: 105-111, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/202208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">202208</a>]" pmid="202208">Okayama et al. (1978)</a> as representing probable cases of oculoleptomeningeal amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5089749+3178532+202208" 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="#31" class="mim-tip-reference" title="Garzuly, F., Vidal, R., Wisniewski, T., Brittig, F., Budka, H. <strong>Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR asp18gly).</strong> Neurology 47: 1562-1567, 1996. Note: Erratum: Neurology 48: 1143 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8960746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8960746</a>] [<a href="https://doi.org/10.1212/wnl.47.6.1562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8960746">Garzuly et al. (1996)</a> described a Hungarian family with autosomal dominant meningocerebrovascular amyloidosis. There were 4 definitely and 3 probably affected members over 4 generations. Clinical features included adult onset, memory disturbances, psychomotor deterioration, ataxia, and hearing loss. Other variable features included migraine-like headaches with vomiting, tremor, spastic paraparesis, nystagmus, hallucinations, and urinary retention. Progressive visual disturbance was absent. CSF protein was markedly elevated in all patients. Postmortem examination of 2 patients showed amyloid deposition in the leptomeninges, brainstem, and spinal cord. There was some systemic amyloid deposition in the heart, kidney, and skin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8960746" 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="#37" class="mim-tip-reference" title="Hagiwara, K., Ochi, H., Suzuki, S., Shimizu, Y., Tokuda, T., Murai, H., Shigeto, H., Ohyagi, Y., Iwata, M., Iwaki, T., Kira, J. <strong>Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr.</strong> Neurology 72: 1358-1360, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19365058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19365058</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181a0fe74" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19365058">Hagiwara et al. (2009)</a> reported a 53-year-old Japanese man with leptomeningeal amyloidosis. The patient presented at age 48 years with chronic progressive polyradiculoneuropathy, severe sensory ataxia, bilateral sensorineural hearing loss, and cerebellar ataxia. There was no visceral organ involvement. He died at age 52 of multiple intracranial hemorrhages. Postmortem examination showed dense hyaline material in the piaarachnoid and leptomeningeal vessels of the brain that were positive for anti-TTR antibodies. Amyloid deposits involved the adventitia, media, and external elastic lamina of the vessels, and no amyloid deposits were identified within the spinal cord, nerve roots, dorsal root ganglia, and peripheral nerves. The spinal cord was compressed by thickened leptomeninges, in which massive amyloid deposits and reactive connective tissue formation was observed. The acoustic nerves and spinal nerve roots were entrapped by thickened leptomeninges. There were varying degrees of demyelination and axonal degeneration depending on the nerve fascicles. There was no visceral organ involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19365058" 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="Sousa, L., Coelho, T., Taipa, R. <strong>CNS involvement in hereditary transthyretin amyloidosis.</strong> Neurology 97: 1111-1119, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34663645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34663645</a>] [<a href="https://doi.org/10.1212/WNL.0000000000012965" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34663645">Sousa et al. (2021)</a> reviewed the current literature on CNS involvement in hereditary transthyretin amyloidosis. CNS symptoms included transient focal neurologic episodes (transient focal CNS dysfunction followed by complete recovery), ischemic and hemorrhagic stroke, cognitive decline, and cranial nerve dysfunction. Onset occurred early, referred to as oculoleptomeningeal amyloidosis (age of onset in the third to fifth decades), in patients with non-V30M TTR variants, or later. Symptomatic leptomeningeal accumulation of amyloid was a frequent late complication, especially in patients with the V30M TTR variant, occurring after at least 14 years of symptomatic peripheral nerve disease. However, pathologic studies in patients with hereditary transthyretin amyloidosis showed amyloid deposits in the leptomeningeal membranes and vessels beginning in early stages of the disease (as early as 3 years after disease onset). Because of improved survival associated with liver transplantation, CNS involvement was expected to become more apparent, with transient focal neurologic episodes observed in 12 to 31%, ischemic stroke in 5 to 16%, and cerebral hemorrhages in 1 to 5% of patients with the V30M variant after liver transplant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34663645" 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>Senile Systemic Amyloidosis</em></strong></p><p>
|
|
Wildtype TTR is mildly amyloidogenic and is deposited as amyloid primarily in the heart of up to 25% of elderly persons, a condition termed senile systemic amyloidosis (<a href="#66" class="mim-tip-reference" title="Saraiva, M. J. M. <strong>Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies.</strong> Expert Rev. Molec. Med. 4: 1-11, 2002. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14987380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14987380</a>] [<a href="https://doi.org/10.1017/S1462399402004647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14987380">Saraiva, 2002</a>; <a href="#77" class="mim-tip-reference" title="Westermark, P., Sletten, K., Johansson, B., Cornwell, G. G., III. <strong>Fibril in senile systemic amyloidosis is derived from normal transthyretin.</strong> Proc. Nat. Acad. Sci. 87: 2843-2845, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2320592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2320592</a>] [<a href="https://doi.org/10.1073/pnas.87.7.2843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2320592">Westermark et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2320592+14987380" 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>Senile systemic amyloidosis, also referred to as senile cardiac amyloidosis, involves the lungs, liver, and kidneys as well as the heart. Crossreaction of antiserum to human prealbumin provides a test for distinguishing senile systemic amyloid from other forms of senile amyloid as well as from amyloid associated with multiple myeloma or primary systemic amyloidosis (<a href="#20" class="mim-tip-reference" title="Cornwell, G. G., Westermark, P., Natvig, J. B., Murdock, W. <strong>Senile cardiac amyloid: evidence that fibrils contain a protein immunologically related to prealbumin.</strong> Immunology 44: 447-452, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7033114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7033114</a>]" pmid="7033114">Cornwell et al., 1981</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7033114" 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="nomenclature" class="mim-anchor"></a>
|
|
<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>Before the emergence of molecular genetics, hereditary amyloidoses were classified into 4 subtypes according to symptom constellation and ethnic origin (summary by <a href="#44" class="mim-tip-reference" title="Hund, E., Linke, R. P., Willig, M. D., Grau, A. <strong>Transthyretin-associated neuropathic amyloidosis: pathogenesis and treatment.</strong> Neurology 56: 431-435, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11261421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11261421</a>] [<a href="https://doi.org/10.1212/wnl.56.4.431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11261421">Hund et al., 2001</a>). The course of disease beginning with sensorimotor polyneuropathy that starts in early adulthood symmetrically at the legs and progresses rather rapidly to incapacitate the patient within a few years has been labeled familial amyloid polyneuropathy type I (FAP I), also known as Portuguese, Portuguese-Swedish-Japanese, or Andrade type. FAP I can be considered the prototype of the manifestation of hereditary TTR amyloidosis. The overwhelming majority of cases of FAP I result from a val30-to-met (V30M; <a href="/entry/176300#0001">176300.0001</a>) substitution. A course of disease with neuropathy beginning at the hands and frequent carpal tunnel operations has been designated FAP II, also known as the Indiana/Swiss (<a href="/entry/176300#0006">176300.0006</a>) or Maryland/German (<a href="/entry/176300#0003">176300.0003</a>) type. Vitreous opacities occur early in the disease course, whereas impotence and renal insufficiency are rare. Amyloidosis due to mutations in the APOA1 gene (<a href="/entry/107650">107650</a>) has been referred to as FAP III or Iowa type (AMYLD3; <a href="/entry/620657">620657</a> and <a href="/entry/107680#0010">107680.0010</a>). The Finnish type of amyloidosis (<a href="/entry/105120">105120</a>) has been referred to as FAP IV and is caused by mutations in gelsolin (<a href="/entry/137350">137350</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11261421" 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>Systems based on clinical phenotypes have historically been used to classify the amyloidoses, but emphasis on the characterization of the amyloid fibril protein has proved more useful (<a href="#66" class="mim-tip-reference" title="Saraiva, M. J. M. <strong>Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies.</strong> Expert Rev. Molec. Med. 4: 1-11, 2002. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14987380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14987380</a>] [<a href="https://doi.org/10.1017/S1462399402004647" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14987380">Saraiva, 2002</a>). In addition to hereditary amyloidosis, 2 other major forms of systemic amyloidosis exist. Immunoglobulin (AL) amyloidosis, formerly known as primary amyloidosis, is caused by the accumulation of monoclonal immunoglobulin (Ig) light chains as amyloid fibrils. Reactive (AA) amyloidosis, formerly known as secondary amyloidosis, is associated with chronic inflammatory diseases (e.g., rheumatoid arthritis, <a href="/entry/180300">180300</a>; familial Mediterranean fever, <a href="/entry/249100">249100</a>), and fibrils are derived from the circulating acute-phase reactant serum amyloid A protein (see <a href="/entry/104750">104750</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14987380" 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>In reviewing 1,233 cases of FAP from 489 Portuguese families registered at the Centro de Estudos de Paramiloidose in Porto, Portugal, <a href="#17" class="mim-tip-reference" title="Coelho, T., Sousa, A., Lourenco, E., Ramalheira, J. <strong>A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.</strong> J. Med. Genet. 31: 293-299, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071954</a>] [<a href="https://doi.org/10.1136/jmg.31.4.293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8071954">Coelho et al. (1994)</a> found 159 cases in which neither parent had shown symptoms of this hereditary dominant form of peripheral neuropathy. These cases appeared to form a distinct group with a later age of onset (mean 45.1 years) than the group of patients with 1 affected parent (mean 31.2 years) and a geographic origin somewhat different from the areas where the disease is most prevalent. Although this group was not significantly different from the general group of patients in clinical presentation at onset and severity of the disease, the average interval between onset and diagnosis (mean 4.5 years) reflected the difficulties in diagnosing these patients in the absence of a positive family history. <a href="#17" class="mim-tip-reference" title="Coelho, T., Sousa, A., Lourenco, E., Ramalheira, J. <strong>A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.</strong> J. Med. Genet. 31: 293-299, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071954</a>] [<a href="https://doi.org/10.1136/jmg.31.4.293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8071954">Coelho et al. (1994)</a> suggested that in some families the FAP gene may result in a milder expression or even remain 'silent' for several generations. They pointed out that in Sweden a large proportion of cases are isolated (<a href="#27" class="mim-tip-reference" title="Drugge, U., Andersson, R., Chizari, F., Danielsson, M., Holmgren, G., Sandgren, O., Sousa, A. <strong>Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.</strong> J. Med. Genet. 30: 388-392, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8100581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8100581</a>] [<a href="https://doi.org/10.1136/jmg.30.5.388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8100581">Drugge et al., 1993</a>) and that in Majorca, 13.6% of patients are said to lack affected antecedents. <a href="#17" class="mim-tip-reference" title="Coelho, T., Sousa, A., Lourenco, E., Ramalheira, J. <strong>A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.</strong> J. Med. Genet. 31: 293-299, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071954</a>] [<a href="https://doi.org/10.1136/jmg.31.4.293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8071954">Coelho et al. (1994)</a> suggested that investigation of the reason for reduced penetrance might lead to elucidation of mechanisms involved in the pathogenetic process. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8100581+8071954" 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="clinicalManagement" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalManagementFold" id="mimClinicalManagementToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalManagementToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Management</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalManagementFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<div class="mim-changed mim-change"><p><a href="#43" class="mim-tip-reference" title="Holmgren, G., Steen, L., Ekstedt, J., Groth, C.-G., Ericzon, B.-G., Eriksson, S., Andersen, O., Karlberg, I., Norden, G., Nakazato, M., Hawkins, P., Richardson, S., Pepys, M. <strong>Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30).</strong> Clin. Genet. 40: 242-246, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1685359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1685359</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03085.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1685359">Holmgren et al. (1991)</a> found that orthotopic liver transplantation caused prompt replacement of variant transthyretin by the donor wildtype in the plasma of patients with the met30 variant of familial amyloid polyneuropathy. <a href="#41" class="mim-tip-reference" title="Holmgren, G., Ericzon, B.-G., Groth, C.-G., Steen, L., Suhr, O., Andersen, O., Wallin, B. G., Seymour, A., Richardson, S., Hawkins, P. N., Pepys, M. B. <strong>Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis.</strong> Lancet 341: 1113-1116, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8097803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8097803</a>] [<a href="https://doi.org/10.1016/0140-6736(93)93127-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8097803">Holmgren et al. (1993)</a> reported clinical outcome 1 to 2 years after transplantation in 4 patients. Three of them showed improved general well being, walking ability, and bowel function, and 1 had regained normal bladder and bowel function. There had been little objective improvement in peripheral neuropathy. Although the fourth patient, who had the most severe neurologic deficits and a complicated postoperative course, had not improved, there had been no further deterioration. Two patients followed serially with quantitative scintigraphy using radiolabeled serum amyloid P component showed regression of visceral deposits after transplantation. Another FAP patient, who was monitored prospectively for 2 years but did not undergo transplantation, showed, as expected, progression of neuropathy and increased visceral amyloid deposition. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1685359+8097803" 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></div>
|
|
|
|
<p>Amyloidogenic mutations in the TTR gene lead to decreased stability of the protein. Using isoelectric focusing in urea gradients, <a href="#3" class="mim-tip-reference" title="Altland, K., Winter, P. <strong>Potential treatment of transthyretin-type amyloidoses by sulfite.</strong> Neurogenetics 2: 183-188, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10541593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10541593</a>] [<a href="https://doi.org/10.1007/s100480050081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10541593">Altland and Winter (1999)</a> were able to demonstrate a stabilizing effect of sulfite on TTR monomers and tetramers, as well as an increase in the tetramer/monomer ratio. They demonstrated that this ratio, which is decreased in FAP patients, can be increased to beyond normal levels. <a href="#3" class="mim-tip-reference" title="Altland, K., Winter, P. <strong>Potential treatment of transthyretin-type amyloidoses by sulfite.</strong> Neurogenetics 2: 183-188, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10541593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10541593</a>] [<a href="https://doi.org/10.1007/s100480050081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10541593">Altland and Winter (1999)</a> showed that doses of sulfite that are tolerable in vivo produce a significant increase in the tetramer/monomer ratio, and they postulated that sulfite may be a potent drug for delaying the onset and progression of FAP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10541593" 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="#45" class="mim-tip-reference" title="Ikeda, S., Nakazato, M., Ando, Y., Sobue, G. <strong>Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.</strong> Neurology 58: 1001-1007, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940682</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940682">Ikeda et al. (2002)</a> noted that although results with liver transplantation had been favorable, the authors noted the need for less invasive and more effective treatments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940682" 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="Ray, S. S., Lansbury, P. T., Jr. <strong>A possible therapeutic target for Lou Gehrig's disease. (Commentary)</strong> Proc. Nat. Acad. Sci. 101: 5701-5702, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15079068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15079068</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15079068[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/10.1073/pnas.0401934101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15079068">Ray and Lansbury (2004)</a> noted that the general strategy of inhibiting potentially pathogenic aggregation by stabilizing native oligomers was proposed and accomplished by <a href="#53" class="mim-tip-reference" title="Koo, E. H., Lansbury, P. T., Jr., Kelly, J. W. <strong>Amyloid diseases: abnormal protein aggregation in neurodegeneration.</strong> Proc. Nat. Acad. Sci. 96: 9989-9990, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10468546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10468546</a>] [<a href="https://doi.org/10.1073/pnas.96.18.9989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10468546">Koo et al. (1999)</a>, in the context of the aggregation-dependent degenerative disease familial amyloid polyneuropathy. Several approved drugs bind the TTR tetramer in an analogous manner as thyroxine (T4), inhibit TTR dissociation and aggregation, and prevent aggregation-associated toxicity in cell culture (<a href="#62" class="mim-tip-reference" title="Reixach, N., Deechongkit, S., Jiang, X., Kelly, J. W., Buxbaum, J. N. <strong>Tissue damage in the amyloidoses: transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture.</strong> Proc. Nat. Acad. Sci. 101: 2817-2822, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14981241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14981241</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14981241[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/10.1073/pnas.0400062101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14981241">Reixach et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10468546+15079068+14981241" 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="Coelho, T., Adams, D., Silva, A., Lozeron, P., Hawkins, P. N., Mant, T., Perez, J., Chiesa, J., Warrington, S., Tranter, E., Munisamy, M., Falzone, R., and 19 others. <strong>Safety and efficacy of RNAi therapy for transthyretin amyloidosis.</strong> New Eng. J. Med. 369: 819-829, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23984729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23984729</a>] [<a href="https://doi.org/10.1056/NEJMoa1208760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23984729">Coelho et al. (2013)</a> reported the results of 2 phase 1 clinical trials of RNAi against transthyretin. Two distinct first- and second-generation formulations were evaluated, the first in 32 patients with transthyretin amyloidosis and the second in 17 healthy volunteers. Rapid dose-dependent durable lowering of transthyretin levels was observed in both trials. Both compounds suppressed the production of both mutant and nonmutant transthyretin, establishing proof of concept for RNAi therapy targeting mRNA transcribed from a disease-causing gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23984729" 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="#9" class="mim-tip-reference" title="Benson, M. D., Waddington-Cruz, M., Berk, J. L., Polydefkis, M., Dyck, P. J., Wang, A. K., Plante-Bordeneuve, V., Barroso, F. A., Merlini, G., Obici, L., Scheinberg, M., Brannagan, T. H., III, and 23 others. <strong>Inotersen treatment for patients with hereditary transthyretin amyloidosis.</strong> New Eng. J. Med. 379: 22-31, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29972757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29972757</a>] [<a href="https://doi.org/10.1056/NEJMoa1716793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29972757">Benson et al. (2018)</a> conducted an international randomized double-blind, placebo-controlled, 15-month, phase 3 trial of inotersen, an antisense oligonucleotide inhibitor of the hepatic production of transthyretin, in adults with stage 1 (ambulatory) or stage 2 (ambulatory with assistance) hereditary transthyretin amyloidosis with polyneuropathy. Patients were randomly assigned, in a 2:1 ratio, to receive weekly subcutaneous injections of inotersen (300 mg) or placebo. A total of 172 patients (112 in the inotersen group and 60 in the placebo group) received at least 1 dose of a trial regimen, and 139 (81%) completed the intervention period. The primary end points were the change in the modified Neuropathy Impairment Score +7 (mNIS+7) and the change in the score on the patient-reported Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN) questionnaire. A decrease in scores indicated improvement. Both primary efficacy assessments favored inotersen. Improvements were independent of disease stage, mutation type, or the presence of cardiomyopathy. There were 5 deaths in the inotersen group (4 consistent with progression or complication of underlying disease and 1 from intracranial hemorrhage associated with thrombocytopenia) and none in the placebo group. The most frequent serious adverse events in the inotersen group were glomerulonephritis (in 3 patients (3%)) and thrombocytopenia (in 3 patients (3%)), with 1 death associated with 1 of the cases of grade 4 thrombocytopenia. Thereafter, all patients received enhanced monitoring. <a href="#9" class="mim-tip-reference" title="Benson, M. D., Waddington-Cruz, M., Berk, J. L., Polydefkis, M., Dyck, P. J., Wang, A. K., Plante-Bordeneuve, V., Barroso, F. A., Merlini, G., Obici, L., Scheinberg, M., Brannagan, T. H., III, and 23 others. <strong>Inotersen treatment for patients with hereditary transthyretin amyloidosis.</strong> New Eng. J. Med. 379: 22-31, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29972757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29972757</a>] [<a href="https://doi.org/10.1056/NEJMoa1716793" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29972757">Benson et al. (2018)</a> concluded that inotersen improved the course of neurologic disease and quality of life in patients with hereditary transthyretin amyloidosis. Thrombocytopenia and glomerulonephritis were managed with enhanced monitoring. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29972757" 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="#80" class="mim-tip-reference" title="Yamashita, T., Ueda, M., Nomura, T., Okazaki, T., Okada, M., Tsuda, Y., Inoue, Y., Masuda, T., Misumi, Y., Takamatsu, K., Obayashi, K., Inomata, Y., Hibi, T., Ando, Y. <strong>Natural history and long-term effects of variant protein reduction in non-V30M ATTR amyloidosis.</strong> Neurology 93: 714-716, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31562191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31562191</a>] [<a href="https://doi.org/10.1212/WNL.0000000000008320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31562191">Yamashita et al. (2019)</a> demonstrated that patients with FAP and a non-V30M-TTR mutation had improved survival with liver transplant compared to nontransplanted patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31562191" 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="#1" class="mim-tip-reference" title="Adams, D., Algalarrondo, V., Echaniz-Laguna, A. <strong>Hereditary transthyretin amyloidosis in the era of RNA interference, antisense oligonucleotide, and CRISPR-Cas9 treatments.</strong> Blood 142: 1600-1612, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37624911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37624911</a>] [<a href="https://doi.org/10.1182/blood.2023019884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37624911">Adams et al. (2023)</a> reviewed therapeutic options for FAP, including liver transplant, TTR stabilizers, RNA interference (RNAi), and antisense oligonucleotides (ASO). Liver transplant was shown to double the survival of patients with the V30M mutation (<a href="/entry/176300#0001">176300.0001</a>). The TTR stabilizer tafamidis was shown to slow progression of neuropathy in patients with the V30M mutation at early stages of disease. Patisiran, a TTR-targeted siRNA lipid nanoparticle agent, resulted in decreased serum TTR by 81% in 18 months and improvements in the mNIS+7. Inotersen, a TTR-targeted ASO, resulted in decreased serum TTR by 74% in 18 months and improvements in the mNIS+7, but was associated with events including thrombocytopenia and glomerulonephritis. Patisiran was also tested in patients with familial cardiac amyloidosis and resulted in improved 6-minute walk test but not survival. In patients with familial cardiac amyloidosis, tafamidis resulted in increased survival at 30 months compared to placebo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37624911" 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>
|
|
|
|
<div class="mim-changed mim-change"><p><a href="#29" class="mim-tip-reference" title="Fontana, M., Berk, J. L., Gillmore, J. D., Witteles, R. M., Grogan, M., Drachman, B., Damy, T., Garcia-Pavia, P., Taubel, J., Solomon, S. D., Sheikh, F. H., Tahara, N., and 26 others. <strong>Vutrisiran in patients with transthyretin amyloidosis with cardiomyopathy.</strong> New Eng. J. Med. 392: 33-44, 2025.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39213194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39213194</a>] [<a href="https://doi.org/10.1056/NEJMoa2409134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="39213194">Fontana et al. (2025)</a> reported the results of a double-blind, randomized trial of 665 patients with transthyretin amyloidosis with cardiomyopathy (ATTR-CM) in a 1:1 ratio to receive vutrisiran (25 mg, 326 patients) or placebo (329 patients) every 12 weeks for up to 36 months. Vutrisiran is a subcutaneously administered RNA interference therapeutic agent that inhibits the production of hepatic transthyretin. The primary end point was a composite of death from any cause and recurrent cardiovascular events. Secondary end points included death from any cause, the change from baseline in the distance covered on the 6-minute walk test, and the change from baseline in the Kansas City Cardiomyopathy Questionnaire-Overall Summary (KCCQ-OS) score. The efficacy end points were assessed in the overall population and in the monotherapy population (the patients who were not receiving tafamidis at baseline) and were tested hierarchically. Vutrisiran treatment led to a lower risk of death from any cause and recurrent cardiovascular events than placebo (hazard ratio in the overall population, 0.72; 95% confidence interval [CI], 0.56 to 0.93; p = 0.01; hazard ratio in the monotherapy population, 0.67; 95% CI, 0.49 to 0.93; p = 0.02) and a lower risk of death from any cause through 42 months (hazard ratio in the overall population, 0.65; 95% CI, 0.46 to 0.90; p = 0.01). Among the patients in the overall population, 125 in the vutrisiran group and 159 in the placebo group had at least 1 primary end-point event. In the overall population, treatment with vutrisiran resulted in less of a decline in the distance covered on the 6-minute walk test than placebo (least-squares mean difference, 26.5 m; 95% CI, 13.4 to 39.6; p less than 0.001) and less of a decline in the KCCQ-OS score (least-squares mean difference, 5.8 points; 95% CI, 2.4 to 9.2; p less than 0.001). Similar benefits were observed in the monotherapy population. The incidence of adverse events was similar in the 2 groups (99% in the vutrisiran group and 98% in the placebo group); serious adverse events occurred in 62% of the patients in the vutrisiran group and in 67% of those in the placebo group. Treatment with vutrisiran lowered the risk of death and cardiovascular events compared with placebo and preserved functional capacity and quality of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39213194" 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></div>
|
|
</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>The genetic defect in the kindreds from northern Portugal described by <a href="#7" class="mim-tip-reference" title="Andrade, C. <strong>A peculiar form of peripheral neuropathy: familial atypical generalised amyloidosis with special involvement of peripheral nerves.</strong> Brain 75: 408-427, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12978172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12978172</a>] [<a href="https://doi.org/10.1093/brain/75.3.408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12978172">Andrade (1952)</a> was heterozygosity for a valine-to-methionine substitution at residue 30 of transthyretin (V30M; <a href="/entry/176300#0001">176300.0001</a>) (<a href="#64" class="mim-tip-reference" title="Saraiva, M. J. M., Birken, S., Costa, P. P., Goodman, D. S. <strong>Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type: definition of molecular abnormality in transthyretin (prealbumin).</strong> J. Clin. Invest. 74: 104-119, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6736244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6736244</a>] [<a href="https://doi.org/10.1172/JCI111390" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6736244">Saraiva et al., 1984</a>). <a href="#65" class="mim-tip-reference" title="Saraiva, M. J. M. <strong>Transthyretin mutations in hyperthyroxinemia and amyloid diseases.</strong> Hum. Mutat. 17: 493-503, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11385707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11385707</a>] [<a href="https://doi.org/10.1002/humu.1132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11385707">Saraiva (2001)</a> reported that over 500 kindreds had been identified in Portugal, constituting the largest focus of FAP worldwide. The second largest focus of V30M FAP is northern Sweden, where more than 350 families have been diagnosed (<a href="#40" class="mim-tip-reference" title="Holmgren, G., Costa, P. M. P., Andersson, C., Asplund, K., Steen, L., Beckman, L., Nylander, P.-O., Teixeira, A., Saraiva, M. J. M., Costa, P. P. <strong>Geographical distribution of TTR met-30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.</strong> J. Med. Genet. 31: 351-354, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8064809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8064809</a>] [<a href="https://doi.org/10.1136/jmg.31.5.351" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8064809">Holmgren et al., 1994</a>). A few cases of homozygosity for the V30M mutation have been reported but do not lead to a more severe form of the disease (<a href="#42" class="mim-tip-reference" title="Holmgren, G., Haettner, E., Nordenson, I., Sandgren, O., Steen, L., Lundgren, E. <strong>Homozygosity for the transthyretin-met(30)-gene in two Swedish sibs with familial amyloidotic polyneuropathy.</strong> Clin. Genet. 34: 333-338, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3229002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3229002</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02887.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3229002">Holmgren et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3229002+8064809+11385707+12978172+6736244" 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 Hungarian family with meningocerebrovascular amyloidosis, <a href="#31" class="mim-tip-reference" title="Garzuly, F., Vidal, R., Wisniewski, T., Brittig, F., Budka, H. <strong>Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR asp18gly).</strong> Neurology 47: 1562-1567, 1996. Note: Erratum: Neurology 48: 1143 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8960746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8960746</a>] [<a href="https://doi.org/10.1212/wnl.47.6.1562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8960746">Garzuly et al. (1996)</a> and <a href="#76" class="mim-tip-reference" title="Vidal, R., Garzuly, F., Budka, H., Lalowski, M., Linke, R. P., Brittig, F., Frangione, B., Wisniewski, T. <strong>Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTR D18G).</strong> Am. J. Path. 148: 361-366, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8579098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8579098</a>]" pmid="8579098">Vidal et al. (1996)</a> identified a mutation in the transthyretin gene (D18G; <a href="/entry/176300#0047">176300.0047</a>). <a href="#39" class="mim-tip-reference" title="Herrick, M. K., DeBruyne, K., Horoupian, D. S., Skare, J., Vanefsky, M. A., Ong, T. <strong>Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.</strong> Neurology 47: 988-992, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8857732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8857732</a>] [<a href="https://doi.org/10.1212/wnl.47.4.988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8857732">Herrick et al. (1996)</a> identified a common mutation in the TTR gene (V30M; <a href="/entry/176300#0001">176300.0001</a>) in a woman with leptomeningeal amyloidosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8579098+8857732+8960746" 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 family with oculoleptomeningeal amyloidosis reported by <a href="#35" class="mim-tip-reference" title="Goren, H., Steinberg, M. C., Farboody, G. H. <strong>Familial oculoleptomeningeal amyloidosis.</strong> Brain 103: 473-495, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7417777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7417777</a>] [<a href="https://doi.org/10.1093/brain/103.3.473" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7417777">Goren et al. (1980)</a>, <a href="#60" class="mim-tip-reference" title="Petersen, R. B., Goren, H., Cohen, M., Richardson, S. L., Tresser, N., Lynn, A., Gali, M., Estes, M., Gambetti, P. <strong>Transthyretin amyloidosis: a new mutation associated with dementia.</strong> Ann. Neurol. 41: 307-313, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9066351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9066351</a>] [<a href="https://doi.org/10.1002/ana.410410305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9066351">Petersen et al. (1997)</a> identified a mutation in the TTR gene (<a href="/entry/176300#0049">176300.0049</a>). In affected members of the family with oculoleptomeningeal amyloidosis reported by <a href="#75" class="mim-tip-reference" title="Uitti, R. J., Donat, J. R., Rozdilsky, B., Schneider, R. J., Koeppen, A. H. <strong>Familial oculoleptomeningeal amyloidosis: report of a new family with unusual features.</strong> Arch. Neurol. 45: 1118-1122, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3178532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3178532</a>] [<a href="https://doi.org/10.1001/archneur.1988.00520340072015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3178532">Uitti et al. (1988)</a>, <a href="#73" class="mim-tip-reference" title="Uemichi, T., Uitti, R. J., Koeppen, A. H., Donat, J. R., Benson, M. D. <strong>Oculoleptomeningeal amyloidosis associated with a new transthyretin variant ser64.</strong> Arch. Neurol. 56: 1152-1155, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10488818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10488818</a>] [<a href="https://doi.org/10.1001/archneur.56.9.1152" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10488818">Uemichi et al. (1999)</a> identified a heterozygous mutation in the transthyretin gene (<a href="/entry/176300#0048">176300.0048</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7417777+9066351+3178532+10488818" 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 large Swedish family with autosomal dominant oculoleptomeningeal amyloidosis characterized by seizures, dementia, stroke-like episodes, ataxia, and, in some, vitreous amyloid, <a href="#15" class="mim-tip-reference" title="Blevins, G., Macaulay, R., Harder, S., Fladeland, D., Yamashita, T., Yazaki, M., Hamidi Asl, K., Benson, M. D., Donat, J. R. <strong>Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant tyr69his.</strong> Neurology 60: 1625-1630, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12771253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12771253</a>] [<a href="https://doi.org/10.1212/01.wnl.0000065901.18353.ab" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12771253">Blevins et al. (2003)</a> identified a mutation in the TTR gene (<a href="/entry/176300#0050">176300.0050</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12771253" 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 5 American and 1 Brazilian case of hereditary amyloid polyneuropathy, and in 1 Brazilian case that was typical except for the absence of a positive family history, <a href="#23" class="mim-tip-reference" title="Dalakas, M. C., Engel, W. K. <strong>Amyloid in hereditary amyloid polyneuropathy is related to prealbumin.</strong> Arch. Neurol. 38: 420-422, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7018469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7018469</a>] [<a href="https://doi.org/10.1001/archneur.1981.00510070054008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7018469">Dalakas and Engel (1981)</a> demonstrated that the amyloid stained with antiprealbumin, as had been shown in the Portuguese type. No staining was demonstrated with antibodies specific for kappa and lambda proteins. The patients studied included 1 from the large kindred reported by <a href="#57" class="mim-tip-reference" title="Mahloudji, M., Teasdall, R. D., Adamkiewicz, J. J., Hartmann, W. H., Lambird, P. A., McKusick, V. A. <strong>The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type).</strong> Medicine 48: 1-37, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4884226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4884226</a>]" pmid="4884226">Mahloudji et al. (1969)</a>; patients who represented an aggressive, early-adult-onset, autosomal dominant type reported by <a href="#51" class="mim-tip-reference" title="Kaufman, H. E. <strong>Primary familial amyloidosis.</strong> AMA Arch. Ophthal. 60: 1036-1043, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13593935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13593935</a>] [<a href="https://doi.org/10.1001/archopht.1958.00940081056009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13593935">Kaufman (1958)</a> and <a href="#78" class="mim-tip-reference" title="Wong, V. G., McFarlin, D. E. <strong>Primary familial amyloidosis.</strong> Arch. Ophthal. 78: 208-213, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4952599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4952599</a>] [<a href="https://doi.org/10.1001/archopht.1967.00980030210015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4952599">Wong and McFarlin (1967)</a>, and shown by <a href="#48" class="mim-tip-reference" title="Jacobson, D. R., McFarlin, D. E., Kane, I., Buxbaum, J. N. <strong>Transthyretin pro-55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.</strong> Hum. Genet. 89: 353-356, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1351039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1351039</a>] [<a href="https://doi.org/10.1007/BF00220559" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1351039">Jacobson et al. (1992)</a> to have a leu55-to-pro substitution in the TTR gene (<a href="/entry/176300#0022">176300.0022</a>); and persons of Portuguese extraction and brothers of Greek extraction with an aggressive, mid-adult-onset, autosomal dominant form. The authors suggested that prealbumin-like protein may be a feature common to the amyloid deposits in many and perhaps all the forms of hereditary amyloid polyneuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4952599+13593935+1351039+4884226+7018469" 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="#37" class="mim-tip-reference" title="Hagiwara, K., Ochi, H., Suzuki, S., Shimizu, Y., Tokuda, T., Murai, H., Shigeto, H., Ohyagi, Y., Iwata, M., Iwaki, T., Kira, J. <strong>Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr.</strong> Neurology 72: 1358-1360, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19365058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19365058</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181a0fe74" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19365058">Hagiwara et al. (2009)</a> reported a 53-year-old Japanese man with leptomeningeal amyloidosis in whom they identified a heterozygous mutation in the TTR gene (A25T; <a href="/entry/176300#0051">176300.0051</a>). <a href="#37" class="mim-tip-reference" title="Hagiwara, K., Ochi, H., Suzuki, S., Shimizu, Y., Tokuda, T., Murai, H., Shigeto, H., Ohyagi, Y., Iwata, M., Iwaki, T., Kira, J. <strong>Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr.</strong> Neurology 72: 1358-1360, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19365058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19365058</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181a0fe74" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19365058">Hagiwara et al. (2009)</a> referred to the studies of <a href="#67" class="mim-tip-reference" title="Sekijima, Y., Wiseman, R. L., Matteson, J., Hammarstrom, P., Miller, S. R., Sawkar, A. R., Balch, W. E., Kelly, J. W. <strong>The biological and chemical basis for tissue-selective amyloid disease.</strong> Cell 121: 73-85, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15820680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15820680</a>] [<a href="https://doi.org/10.1016/j.cell.2005.01.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15820680">Sekijima et al. (2005)</a> who showed that TTR variants of the leptomeningeal type of amyloidosis, such as A25T, have faster homotetrameric dissociation rates compared to other TTR variants. The A25T variant was secreted more efficiently from choroid plexus cells compared to hamster kidney and mouse liver cells, possibly via a T4-chaperoning mechanism. The D18G variant did not form tetramers and was targeted for endoplasmic reticulum (ER)-associated degradation, leading to low secretion levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15820680+19365058" 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><a href="#82" class="mim-tip-reference" title="Yi, S., Takahashi, K., Naito, M., Tashiro, F., Wakasugi, S., Maeda, S., Shimada, K., Yamamura, K., Araki, S. <strong>Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (met30) gene: pathologic similarity to human familial amyloidotic polyneuropathy, type I.</strong> Am. J. Path. 138: 403-412, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1992765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1992765</a>]" pmid="1992765">Yi et al. (1991)</a> introduced the human TTR gene carrying the val30-to-met mutation into transgenic mice and demonstrated that amyloid deposition started in the gastrointestinal tract, cardiovascular system, and kidneys 6 months after birth and extended to various other organs and tissues with advancing age. By the age of 24 months, the pattern of amyloid deposition was similar to that observed in human autopsy cases, except for its absence in the choroid plexus and in the peripheral and autonomic nervous systems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1992765" 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="history" class="mim-anchor"></a>
|
|
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#12" class="mim-tip-reference" title="Benson, M. D. <strong>Personal Communication.</strong> Indianapolis, Ind. 12/22/1986."None>Benson (1986)</a> was of the view that the Portuguese disease was imported from Sweden. From Portugal, it appeared to have spread to Japan.</p><p><a href="#18" class="mim-tip-reference" title="Coimbra, A., Andrade, C. <strong>Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. I. Interstitial changes.</strong> Brain 94: 199-206, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4328329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4328329</a>] [<a href="https://doi.org/10.1093/brain/94.2.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4328329">Coimbra and Andrade (1971)</a> reported somewhat unexpected electron microscopic findings demonstrating that the primary change is one of myelin degeneration, followed by axoplasmic degeneration and only subsequently by accumulation of amyloid deposits which do not cause nerve compression. This suggested that the amyloid accumulations are secondary to the peripheral nerve degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4328329" 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="#22" class="mim-tip-reference" title="Coutinho, P., Sequeiros, J. <strong>Familial amyloidotic polyneuropathy and Machado-Joseph disease: two rare autosomal dominant neurologic diseases in the same family: the 'Iiyama type' of FAP? (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A43, 1989."None>Coutinho and Sequeiros (1989)</a> suggested that the so-called Iiyama type of FAP seen in Japan and characterized by the same met30 mutation of the TTR gene as in the Portuguese cases but associated with cerebellar and pyramidal signs (<a href="#30" class="mim-tip-reference" title="Furuya, H., Yoshioka, K., Sasaki, H., Sakaki, Y., Nakazato, M., Matsuo, H., Nakadai, A., Ikeda, S., Yanagisawa, N. <strong>Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.</strong> J. Clin. Invest. 80: 1706-1711, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3479441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3479441</a>] [<a href="https://doi.org/10.1172/JCI113261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3479441">Furuya et al., 1987</a>) may represent the simultaneous occurrence of FAP type I and Machado-Joseph disease (MJD; <a href="/entry/109150">109150</a>), both disorders of relatively high frequency in Portuguese. The MJD mutation was later determined to be in the ataxin-3 gene (ATXN3; <a href="/entry/607047">607047</a>) on chromosome 14q24.3-q33. <a href="#46" class="mim-tip-reference" title="Ikeda, S., Yanagisawa, N., Hanyu, N., Furihata, K., Kobayashi, T. <strong>Coexistence of type I familial amyloid polyneuropathy and spinocerebellar ataxia type 1: clinical and genetic studies of a Japanese family.</strong> J. Neurol. Neurosurg. Psychiat. 60: 586-598, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8778271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8778271</a>] [<a href="https://doi.org/10.1136/jnnp.60.5.586-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8778271">Ikeda et al. (1996)</a> found that the family studied by <a href="#30" class="mim-tip-reference" title="Furuya, H., Yoshioka, K., Sasaki, H., Sakaki, Y., Nakazato, M., Matsuo, H., Nakadai, A., Ikeda, S., Yanagisawa, N. <strong>Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.</strong> J. Clin. Invest. 80: 1706-1711, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3479441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3479441</a>] [<a href="https://doi.org/10.1172/JCI113261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3479441">Furuya et al. (1987)</a> and others carried mutations in both the TTR and ATXN1 (<a href="/entry/601556">601556</a>) genes and thus represented the coexistence of FAP and spinocerebellar ataxia-1 (<a href="/entry/164400">164400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8778271+3479441" 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>Ironically, George G. Glenner, who made major contributions to the understanding of amyloidosis, succumbed to cardiac amyloidosis of the transthyretin type (<a href="#70" class="mim-tip-reference" title="Sipe, J. D. <strong>In memoriam: George G. Glenner, M.D. (1927-1995).</strong> Int. J. Exp. Clin. Invest. 2: 149, 1995."None>Sipe, 1995</a>). <a href="#33" class="mim-tip-reference" title="Glenner, G. G., Terry, W., Harada, M., Isersky, C., Page, D. <strong>Amyloid fibril proteins: proof of homology with immunoglobulin light chains by sequence analyses.</strong> Science 172: 1150-1151, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4102463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4102463</a>] [<a href="https://doi.org/10.1126/science.172.3988.1150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4102463">Glenner et al. (1971)</a> reported that the fibrils in primary amyloidosis, or amyloidosis associated with multiple myeloma, are composed of the N-terminal variable region of the immunoglobulin light chain. <a href="#32" class="mim-tip-reference" title="Glenner, G. G., Eanes, E. D., Bladen, H. A., Linke, R. P., Termine, J. D. <strong>Beta-pleated sheets fibrils: a comparison of native amyloid with synthetic protein fibrils.</strong> J. Histochem. Cytochem. 22: 1141-1158, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4443557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4443557</a>] [<a href="https://doi.org/10.1177/22.12.1141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4443557">Glenner et al. (1974)</a> defined the beta-pleated sheet structure of the amyloid fibril. <a href="#34" class="mim-tip-reference" title="Glenner, G. G., Wong, C. W. <strong>Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein.</strong> Biochem. Biophys. Res. Commun. 120: 885-890, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6375662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6375662</a>] [<a href="https://doi.org/10.1016/s0006-291x(84)80190-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6375662">Glenner and Wong (1984)</a> defined the A-beta fibril protein associated with Alzheimer disease (<a href="/entry/104760">104760</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6375662+4102463+4443557" 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>It seems well established that the clinical picture differs in persons from different genetic backgrounds. For example, the methionine-30 mutation in a U.S. family of English descent invariably produces cardiomyopathy, whereas among the Swedes the same mutation is rarely accompanied by cardiomyopathy and instead shows the kidneys as the main target, with patients dying of renal failure (<a href="#42" class="mim-tip-reference" title="Holmgren, G., Haettner, E., Nordenson, I., Sandgren, O., Steen, L., Lundgren, E. <strong>Homozygosity for the transthyretin-met(30)-gene in two Swedish sibs with familial amyloidotic polyneuropathy.</strong> Clin. Genet. 34: 333-338, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3229002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3229002</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02887.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3229002">Holmgren et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3229002" 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="#Coimbra1971" class="mim-tip-reference" title="Coimbra, A., Andrade, C. <strong>Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. II. Nerve fiber changes.</strong> Brain 94: 207-212, 1971.">Coimbra and Andrade (1971)</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="Adams2023" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Adams, D., Algalarrondo, V., Echaniz-Laguna, A.
|
|
<strong>Hereditary transthyretin amyloidosis in the era of RNA interference, antisense oligonucleotide, and CRISPR-Cas9 treatments.</strong>
|
|
Blood 142: 1600-1612, 2023.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37624911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37624911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37624911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1182/blood.2023019884" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Adams2019" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Adams, D., Koike, H., Slama, M., Coelho, T.
|
|
<strong>Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.</strong>
|
|
Nat. Rev. Neurol. 15: 387-404, 2019.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31209302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31209302</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31209302" 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/s41582-019-0210-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Altland1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Altland, K., Winter, P.
|
|
<strong>Potential treatment of transthyretin-type amyloidoses by sulfite.</strong>
|
|
Neurogenetics 2: 183-188, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10541593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10541593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10541593" 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/s100480050081" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Ando2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ando, Y., Nakamura, M., Araki, S.
|
|
<strong>Transthyretin-related familial amyloidotic polyneuropathy.</strong>
|
|
Arch. Neurol. 62: 1057-1062, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16009758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16009758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16009758" 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.62.7.1057" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Ando1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ando, Y., Tanaka, Y., Nakazato, M., Ericzon, B.-G., Yamashita, T., Tashima, K., Sakashita, N., Suga, M., Uchino, M., Ando, M.
|
|
<strong>Change in variant transthyretin levels in patients with familial amyloidotic polyneuropathy type I following liver transplantation.</strong>
|
|
Biochem. Biophys. Res. Commun. 211: 354-358, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7794243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7794243</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7794243" 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/bbrc.1995.1820" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Ando1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ando, Y., Yamashita, T., Tanaka, Y., Tashima, K., Yonehara, T., Gotoh, T., Sakashita, N., Uchino, M., Ando, M.
|
|
<strong>Role of nitric oxide in the peripheral vessels of patients with familial amyloidotic polyneuropathy (FAP) type I.</strong>
|
|
J. Auton. Nerv. Syst. 50: 79-85, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7844317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7844317</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7844317" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0165-1838(94)90125-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Andrade1952" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Andrade, C.
|
|
<strong>A peculiar form of peripheral neuropathy: familial atypical generalised amyloidosis with special involvement of peripheral nerves.</strong>
|
|
Brain 75: 408-427, 1952.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12978172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12978172</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12978172" 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/75.3.408" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Benson1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benson, M. D., Cohen, A. S.
|
|
<strong>Generalized amyloid in a family of Swedish origin: a study of 426 family members in 7 generations of a new kinship with neuropathy, nephropathy and central nervous system involvement.</strong>
|
|
Ann. Intern. Med. 86: 419-424, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/192115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">192115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=192115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.7326/0003-4819-86-4-419" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Benson2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benson, M. D., Waddington-Cruz, M., Berk, J. L., Polydefkis, M., Dyck, P. J., Wang, A. K., Plante-Bordeneuve, V., Barroso, F. A., Merlini, G., Obici, L., Scheinberg, M., Brannagan, T. H., III, and 23 others.
|
|
<strong>Inotersen treatment for patients with hereditary transthyretin amyloidosis.</strong>
|
|
New Eng. J. Med. 379: 22-31, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29972757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29972757</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29972757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMoa1716793" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Benson1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benson, M. D.
|
|
<strong>Characterization of an amyloid fibril protein in heredofamilial amyloidosis. (Abstract)</strong>
|
|
Clin. Res. 28: 340A, 1980.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Benson1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benson, M. D.
|
|
<strong>Partial amino acid sequence homology between an heredofamilial amyloid protein and human plasma prealbumin.</strong>
|
|
J. Clin. Invest. 67: 1035-1041, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6782125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6782125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6782125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/jci110114" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Benson1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benson, M. D.
|
|
<strong>Personal Communication.</strong>
|
|
Indianapolis, Ind. 12/22/1986.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Benson1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benson, M. D.
|
|
<strong>Inherited amyloidosis.</strong>
|
|
J. Med. Genet. 28: 73-78, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1848299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1848299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1848299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.28.2.73" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Benson2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benson, M. D.
|
|
<strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. 4. (8th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Blevins2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Blevins, G., Macaulay, R., Harder, S., Fladeland, D., Yamashita, T., Yazaki, M., Hamidi Asl, K., Benson, M. D., Donat, J. R.
|
|
<strong>Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant tyr69his.</strong>
|
|
Neurology 60: 1625-1630, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12771253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12771253</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12771253" 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.0000065901.18353.ab" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Coelho2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Coelho, T., Adams, D., Silva, A., Lozeron, P., Hawkins, P. N., Mant, T., Perez, J., Chiesa, J., Warrington, S., Tranter, E., Munisamy, M., Falzone, R., and 19 others.
|
|
<strong>Safety and efficacy of RNAi therapy for transthyretin amyloidosis.</strong>
|
|
New Eng. J. Med. 369: 819-829, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23984729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23984729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23984729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMoa1208760" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Coelho1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Coelho, T., Sousa, A., Lourenco, E., Ramalheira, J.
|
|
<strong>A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.</strong>
|
|
J. Med. Genet. 31: 293-299, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8071954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8071954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8071954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.31.4.293" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Coimbra1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Coimbra, A., Andrade, C.
|
|
<strong>Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. I. Interstitial changes.</strong>
|
|
Brain 94: 199-206, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4328329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4328329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4328329" 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/94.2.199" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Coimbra1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Coimbra, A., Andrade, C.
|
|
<strong>Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. II. Nerve fiber changes.</strong>
|
|
Brain 94: 207-212, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4328330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4328330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4328330" 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/94.2.207" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Cornwell1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cornwell, G. G., Westermark, P., Natvig, J. B., Murdock, W.
|
|
<strong>Senile cardiac amyloid: evidence that fibrils contain a protein immunologically related to prealbumin.</strong>
|
|
Immunology 44: 447-452, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7033114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7033114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7033114" 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="21" class="mim-anchor"></a>
|
|
<a id="Costa1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Costa, P. P., Figueira, A. S., Bravo, F. R.
|
|
<strong>Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.</strong>
|
|
Proc. Nat. Acad. Sci. 75: 4499-4503, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/279930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">279930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=279930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.75.9.4499" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Coutinho1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Coutinho, P., Sequeiros, J.
|
|
<strong>Familial amyloidotic polyneuropathy and Machado-Joseph disease: two rare autosomal dominant neurologic diseases in the same family: the 'Iiyama type' of FAP? (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A43, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Dalakas1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dalakas, M. C., Engel, W. K.
|
|
<strong>Amyloid in hereditary amyloid polyneuropathy is related to prealbumin.</strong>
|
|
Arch. Neurol. 38: 420-422, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7018469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7018469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7018469" 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.1981.00510070054008" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="De Bruyn1929" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
De Bruyn, R. S., Stern, R. O.
|
|
<strong>A case of the progressive hypertrophic polyneuritis of Dejerine and Sottas, with pathological examination.</strong>
|
|
Brain 52: 84-107, 1929.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="De Navasquez1938" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
De Navasquez, S., Treble, H. A.
|
|
<strong>A case of primary generalized amyloid disease with involvement of the nerves.</strong>
|
|
Brain 61: 116-128, 1938.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Dowell2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dowell, J. D., Fleck, J. D., Vakili, S. T., Benson, M. D.
|
|
<strong>Familial oculoleptomeningeal amyloidosis associated with primary angiitis of the CNS.</strong>
|
|
Neurology 68: 77-78, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17200500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17200500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17200500" 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.0000250343.34110.79" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Drugge1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Drugge, U., Andersson, R., Chizari, F., Danielsson, M., Holmgren, G., Sandgren, O., Sousa, A.
|
|
<strong>Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.</strong>
|
|
J. Med. Genet. 30: 388-392, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8100581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8100581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8100581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.30.5.388" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Ducla-Soares1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ducla-Soares, J., Alves, M. M., Carvalho, M., Povoa, P., Conceicao, I., Sales Luis, M. L.
|
|
<strong>Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type.</strong>
|
|
Acta Neurol. Scand. 90: 266-269, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7839813/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7839813</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7839813" 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.1600-0404.1994.tb02719.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Fontana2025" class="mim-anchor"></a>
|
|
<div class="mim-changed mim-change">
|
|
<p class="mim-text-font">
|
|
Fontana, M., Berk, J. L., Gillmore, J. D., Witteles, R. M., Grogan, M., Drachman, B., Damy, T., Garcia-Pavia, P., Taubel, J., Solomon, S. D., Sheikh, F. H., Tahara, N., and 26 others.
|
|
<strong>Vutrisiran in patients with transthyretin amyloidosis with cardiomyopathy.</strong>
|
|
New Eng. J. Med. 392: 33-44, 2025.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/39213194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">39213194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=39213194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMoa2409134" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Furuya1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Furuya, H., Yoshioka, K., Sasaki, H., Sakaki, Y., Nakazato, M., Matsuo, H., Nakadai, A., Ikeda, S., Yanagisawa, N.
|
|
<strong>Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.</strong>
|
|
J. Clin. Invest. 80: 1706-1711, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3479441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3479441</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3479441" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI113261" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Garzuly1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Garzuly, F., Vidal, R., Wisniewski, T., Brittig, F., Budka, H.
|
|
<strong>Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR asp18gly).</strong>
|
|
Neurology 47: 1562-1567, 1996. Note: Erratum: Neurology 48: 1143 only, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8960746/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8960746</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8960746" 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.47.6.1562" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Glenner1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Glenner, G. G., Eanes, E. D., Bladen, H. A., Linke, R. P., Termine, J. D.
|
|
<strong>Beta-pleated sheets fibrils: a comparison of native amyloid with synthetic protein fibrils.</strong>
|
|
J. Histochem. Cytochem. 22: 1141-1158, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4443557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4443557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4443557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1177/22.12.1141" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Glenner1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Glenner, G. G., Terry, W., Harada, M., Isersky, C., Page, D.
|
|
<strong>Amyloid fibril proteins: proof of homology with immunoglobulin light chains by sequence analyses.</strong>
|
|
Science 172: 1150-1151, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4102463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4102463</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4102463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.172.3988.1150" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Glenner1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Glenner, G. G., Wong, C. W.
|
|
<strong>Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein.</strong>
|
|
Biochem. Biophys. Res. Commun. 120: 885-890, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6375662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6375662</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6375662" 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/s0006-291x(84)80190-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Goren1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Goren, H., Steinberg, M. C., Farboody, G. H.
|
|
<strong>Familial oculoleptomeningeal amyloidosis.</strong>
|
|
Brain 103: 473-495, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7417777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7417777</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7417777" 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/103.3.473" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Gorevic1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gorevic, P. D., Pras, M., Wright, J. R., Frangione, B.
|
|
<strong>'Senile' cardiac amyloidosis: isolation of fibrils and immunohistological identity with heredofamilial neuropathic amyloid due to tissue deposition of prealbumin. (Abstract)</strong>
|
|
Clin. Res. 30: 349A, 1982.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Hagiwara2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hagiwara, K., Ochi, H., Suzuki, S., Shimizu, Y., Tokuda, T., Murai, H., Shigeto, H., Ohyagi, Y., Iwata, M., Iwaki, T., Kira, J.
|
|
<strong>Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr.</strong>
|
|
Neurology 72: 1358-1360, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19365058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19365058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19365058" 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.0b013e3181a0fe74" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Hamburg1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hamburg, A.
|
|
<strong>Unusual cause of vitreous opacities: primary familial amyloidosis.</strong>
|
|
Ophthalmologica 162: 173-177, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5089749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5089749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5089749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000306260" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Herrick1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Herrick, M. K., DeBruyne, K., Horoupian, D. S., Skare, J., Vanefsky, M. A., Ong, T.
|
|
<strong>Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.</strong>
|
|
Neurology 47: 988-992, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8857732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8857732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8857732" 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.47.4.988" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Holmgren1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holmgren, G., Costa, P. M. P., Andersson, C., Asplund, K., Steen, L., Beckman, L., Nylander, P.-O., Teixeira, A., Saraiva, M. J. M., Costa, P. P.
|
|
<strong>Geographical distribution of TTR met-30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.</strong>
|
|
J. Med. Genet. 31: 351-354, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8064809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8064809</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8064809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.31.5.351" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Holmgren1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holmgren, G., Ericzon, B.-G., Groth, C.-G., Steen, L., Suhr, O., Andersen, O., Wallin, B. G., Seymour, A., Richardson, S., Hawkins, P. N., Pepys, M. B.
|
|
<strong>Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis.</strong>
|
|
Lancet 341: 1113-1116, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8097803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8097803</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8097803" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0140-6736(93)93127-m" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Holmgren1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holmgren, G., Haettner, E., Nordenson, I., Sandgren, O., Steen, L., Lundgren, E.
|
|
<strong>Homozygosity for the transthyretin-met(30)-gene in two Swedish sibs with familial amyloidotic polyneuropathy.</strong>
|
|
Clin. Genet. 34: 333-338, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3229002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3229002</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3229002" 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.1399-0004.1988.tb02887.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Holmgren1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holmgren, G., Steen, L., Ekstedt, J., Groth, C.-G., Ericzon, B.-G., Eriksson, S., Andersen, O., Karlberg, I., Norden, G., Nakazato, M., Hawkins, P., Richardson, S., Pepys, M.
|
|
<strong>Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30).</strong>
|
|
Clin. Genet. 40: 242-246, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1685359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1685359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1685359" 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.1399-0004.1991.tb03085.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Hund2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hund, E., Linke, R. P., Willig, M. D., Grau, A.
|
|
<strong>Transthyretin-associated neuropathic amyloidosis: pathogenesis and treatment.</strong>
|
|
Neurology 56: 431-435, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11261421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11261421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11261421" 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.56.4.431" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Ikeda2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ikeda, S., Nakazato, M., Ando, Y., Sobue, G.
|
|
<strong>Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.</strong>
|
|
Neurology 58: 1001-1007, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940682</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940682" 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.58.7.1001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Ikeda1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ikeda, S., Yanagisawa, N., Hanyu, N., Furihata, K., Kobayashi, T.
|
|
<strong>Coexistence of type I familial amyloid polyneuropathy and spinocerebellar ataxia type 1: clinical and genetic studies of a Japanese family.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 60: 586-598, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8778271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8778271</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8778271" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.60.5.586-a" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Ikeda1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ikeda, S.-I., Hanyu, N., Hongo, M., Yoshioka, J., Oguchi, H., Yanagisawa, N., Kobayashi, T., Tsukagoshi, H., Ito, N., Yokota, T.
|
|
<strong>Hereditary generalized amyloidosis with polyneuropathy: clinicopathological study of 65 Japanese patients.</strong>
|
|
Brain 110: 315-337, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3032328/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3032328</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3032328" 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/110.2.315" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Jacobson1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jacobson, D. R., McFarlin, D. E., Kane, I., Buxbaum, J. N.
|
|
<strong>Transthyretin pro-55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.</strong>
|
|
Hum. Genet. 89: 353-356, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1351039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1351039</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1351039" 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/BF00220559" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Jacobson1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jacobson, D. R., Pastore, R. D., Yaghoubian, R., Kane, I., Gallo, G., Buck, F. S., Buxbaum, J. N.
|
|
<strong>Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in Black Americans.</strong>
|
|
New Eng. J. Med. 336: 466-473, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9017939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9017939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9017939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199702133360703" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Kaufman1959" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kaufman, H. E., Thomas, L. B.
|
|
<strong>Vitreous opacities diagnostic of familial primary amyloidosis.</strong>
|
|
New Eng. J. Med. 261: 1267-1271, 1959.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14404854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14404854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14404854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM195912172612503" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Kaufman1958" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kaufman, H. E.
|
|
<strong>Primary familial amyloidosis.</strong>
|
|
AMA Arch. Ophthal. 60: 1036-1043, 1958.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13593935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13593935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13593935" 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/archopht.1958.00940081056009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Koike2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Koike, H., Misu, K., Sugiura, M., Iijima, M., Mori, K., Yamamoto, M., Hattori, N., Mukai, E., Ando, Y., Ikeda, S., Sobue, G.
|
|
<strong>Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy.</strong>
|
|
Neurology 63: 129-138, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15249622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15249622</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15249622" 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.0000132966.36437.12" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Koo1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Koo, E. H., Lansbury, P. T., Jr., Kelly, J. W.
|
|
<strong>Amyloid diseases: abnormal protein aggregation in neurodegeneration.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 9989-9990, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10468546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10468546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10468546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.96.18.9989" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Kyle2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kyle, R. A.
|
|
<strong>Amyloidosis: a convoluted story.</strong>
|
|
Brit. J. Haemat. 114: 529-538, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11552976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11552976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11552976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1046/j.1365-2141.2001.02999.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Libbey1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Libbey, C. A., Rubinow, A., Shirahama, T., Deal, C., Cohen, A. S.
|
|
<strong>Familial amyloid polyneuropathy: demonstration of prealbumin in a kinship of German/English ancestry with onset in the seventh decade.</strong>
|
|
Am. J. Med. 76: 18-24, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6691355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6691355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6691355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9343(84)90739-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Liu2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liu, Y.-T., Lee, Y.-C., Yang, C.-C., Chen, M.-L., Lin, K.-P.
|
|
<strong>Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression.</strong>
|
|
J. Neurol. Sci. 267: 91-99, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18022643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18022643</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18022643" 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/j.jns.2007.10.011" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Mahloudji1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mahloudji, M., Teasdall, R. D., Adamkiewicz, J. J., Hartmann, W. H., Lambird, P. A., McKusick, V. A.
|
|
<strong>The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type).</strong>
|
|
Medicine 48: 1-37, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4884226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4884226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4884226" 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="58" class="mim-anchor"></a>
|
|
<a id="Munsat1962" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Munsat, T. L., Poussaint, A. F.
|
|
<strong>Clinical manifestations and diagnosis of amyloid polyneuropathy: report of three cases.</strong>
|
|
Neurology 12: 413-422, 1962.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14477245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14477245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14477245" 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.12.6.413" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Okayama1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Okayama, M., Goto, I., Ogata, J., Omae, T., Yoshida, I., Inomata, H.
|
|
<strong>Primary amyloidosis with familial vitreous opacities: an unusual case and family.</strong>
|
|
Arch. Intern. Med. 138: 105-111, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/202208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">202208</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=202208" 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="60" class="mim-anchor"></a>
|
|
<a id="Petersen1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Petersen, R. B., Goren, H., Cohen, M., Richardson, S. L., Tresser, N., Lynn, A., Gali, M., Estes, M., Gambetti, P.
|
|
<strong>Transthyretin amyloidosis: a new mutation associated with dementia.</strong>
|
|
Ann. Neurol. 41: 307-313, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9066351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9066351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9066351" 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.410410305" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Ray2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ray, S. S., Lansbury, P. T., Jr.
|
|
<strong>A possible therapeutic target for Lou Gehrig's disease. (Commentary)</strong>
|
|
Proc. Nat. Acad. Sci. 101: 5701-5702, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15079068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15079068</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15079068[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=15079068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.0401934101" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Reixach2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reixach, N., Deechongkit, S., Jiang, X., Kelly, J. W., Buxbaum, J. N.
|
|
<strong>Tissue damage in the amyloidoses: transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 2817-2822, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14981241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14981241</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14981241[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=14981241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.0400062101" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="63" class="mim-anchor"></a>
|
|
<a id="Sandgren1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sandgren, O., Drugge, U., Holmgren, G., Sousa, A.
|
|
<strong>Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study.</strong>
|
|
Clin. Genet. 40: 452-460, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1685700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1685700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1685700" 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.1399-0004.1991.tb03117.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="64" class="mim-anchor"></a>
|
|
<a id="Saraiva1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Saraiva, M. J. M., Birken, S., Costa, P. P., Goodman, D. S.
|
|
<strong>Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type: definition of molecular abnormality in transthyretin (prealbumin).</strong>
|
|
J. Clin. Invest. 74: 104-119, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6736244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6736244</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6736244" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI111390" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="Saraiva2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Saraiva, M. J. M.
|
|
<strong>Transthyretin mutations in hyperthyroxinemia and amyloid diseases.</strong>
|
|
Hum. Mutat. 17: 493-503, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11385707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11385707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11385707" 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/humu.1132" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="Saraiva2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Saraiva, M. J. M.
|
|
<strong>Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies.</strong>
|
|
Expert Rev. Molec. Med. 4: 1-11, 2002. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14987380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14987380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14987380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1017/S1462399402004647" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="67" class="mim-anchor"></a>
|
|
<a id="Sekijima2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sekijima, Y., Wiseman, R. L., Matteson, J., Hammarstrom, P., Miller, S. R., Sawkar, A. R., Balch, W. E., Kelly, J. W.
|
|
<strong>The biological and chemical basis for tissue-selective amyloid disease.</strong>
|
|
Cell 121: 73-85, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15820680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15820680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15820680" 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/j.cell.2005.01.018" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="68" class="mim-anchor"></a>
|
|
<a id="Sequeiros1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sequeiros, J., Saraiva, M. J. M.
|
|
<strong>Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR (met30) mutation in hereditary amyloid neuropathy: type I (Portuguese, Andrade).</strong>
|
|
Am. J. Med. Genet. 27: 345-357, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3037905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3037905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3037905" 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.1320270213" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="69" class="mim-anchor"></a>
|
|
<a id="Sequeiros1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sequeiros, J.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 2/1984.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="70" class="mim-anchor"></a>
|
|
<a id="Sipe1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sipe, J. D.
|
|
<strong>In memoriam: George G. Glenner, M.D. (1927-1995).</strong>
|
|
Int. J. Exp. Clin. Invest. 2: 149, 1995.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="71" class="mim-anchor"></a>
|
|
<a id="Sousa2021" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sousa, L., Coelho, T., Taipa, R.
|
|
<strong>CNS involvement in hereditary transthyretin amyloidosis.</strong>
|
|
Neurology 97: 1111-1119, 2021.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34663645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34663645</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34663645" 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.0000000000012965" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="72" class="mim-anchor"></a>
|
|
<a id="Tanaka1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tanaka, M., Hirai, S., Matsubara, E., Okamoto, K., Morimatsu, M., Nakazato, M.
|
|
<strong>Familial amyloidotic polyneuropathy without familial occurrence: carrier detection by the radioimmunoassay of variant transthyretin.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 51: 576-578, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3379433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3379433</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3379433" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jnnp.51.4.576" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="73" class="mim-anchor"></a>
|
|
<a id="Uemichi1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Uemichi, T., Uitti, R. J., Koeppen, A. H., Donat, J. R., Benson, M. D.
|
|
<strong>Oculoleptomeningeal amyloidosis associated with a new transthyretin variant ser64.</strong>
|
|
Arch. Neurol. 56: 1152-1155, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10488818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10488818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10488818" 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.56.9.1152" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="74" class="mim-anchor"></a>
|
|
<a id="Ueno1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ueno, S., Nakamura, Y., Takahashi, M., Tarui, S., Sasaki, H.
|
|
<strong>'Nonprealbumin-related' familial amyloid polyneuropathy.</strong>
|
|
Neurology 38: 333-334, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2829057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2829057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2829057" 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.38.2.333" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="75" class="mim-anchor"></a>
|
|
<a id="Uitti1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Uitti, R. J., Donat, J. R., Rozdilsky, B., Schneider, R. J., Koeppen, A. H.
|
|
<strong>Familial oculoleptomeningeal amyloidosis: report of a new family with unusual features.</strong>
|
|
Arch. Neurol. 45: 1118-1122, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3178532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3178532</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3178532" 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.1988.00520340072015" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="76" class="mim-anchor"></a>
|
|
<a id="Vidal1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vidal, R., Garzuly, F., Budka, H., Lalowski, M., Linke, R. P., Brittig, F., Frangione, B., Wisniewski, T.
|
|
<strong>Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTR D18G).</strong>
|
|
Am. J. Path. 148: 361-366, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8579098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8579098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8579098" 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="77" class="mim-anchor"></a>
|
|
<a id="Westermark1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Westermark, P., Sletten, K., Johansson, B., Cornwell, G. G., III.
|
|
<strong>Fibril in senile systemic amyloidosis is derived from normal transthyretin.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 2843-2845, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2320592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2320592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2320592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.87.7.2843" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="78" class="mim-anchor"></a>
|
|
<a id="Wong1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wong, V. G., McFarlin, D. E.
|
|
<strong>Primary familial amyloidosis.</strong>
|
|
Arch. Ophthal. 78: 208-213, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4952599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4952599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4952599" 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/archopht.1967.00980030210015" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="79" class="mim-anchor"></a>
|
|
<a id="Yamada1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yamada, M., Tsukagoshi, H., Satoh, J., Ishiai, S., Nakazato, M., Furuya, H., Sasaki, H., Sakaki, Y., Yokota, T.
|
|
<strong>'Sporadic' prealbumin-related amyloid polyneuropathy: report of two cases.</strong>
|
|
J. Neurol. 235: 69-73, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2828557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2828557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2828557" 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/BF00718012" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="80" class="mim-anchor"></a>
|
|
<a id="Yamashita2019" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yamashita, T., Ueda, M., Nomura, T., Okazaki, T., Okada, M., Tsuda, Y., Inoue, Y., Masuda, T., Misumi, Y., Takamatsu, K., Obayashi, K., Inomata, Y., Hibi, T., Ando, Y.
|
|
<strong>Natural history and long-term effects of variant protein reduction in non-V30M ATTR amyloidosis.</strong>
|
|
Neurology 93: 714-716, 2019.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31562191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31562191</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31562191" 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.0000000000008320" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="81" class="mim-anchor"></a>
|
|
<a id="Yang2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yang, N. C.-C., Lee, M.-J., Chao, C.-C., Chuang, Y.-T., Lin, W.-M., Chang, M.-F., Hsieh, P.-C., Kan, H.-W., Lin, Y.-H., Yang, C.-C., Chiu, M.-J., Liou, H.-H., Hsieh, S.-T.
|
|
<strong>Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser.</strong>
|
|
Neurology 75: 532-538, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20697105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20697105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20697105" 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.0b013e3181ec7fda" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="82" class="mim-anchor"></a>
|
|
<a id="Yi1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yi, S., Takahashi, K., Naito, M., Tashiro, F., Wakasugi, S., Maeda, S., Shimada, K., Yamamura, K., Araki, S.
|
|
<strong>Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (met30) gene: pathologic similarity to human familial amyloidotic polyneuropathy, type I.</strong>
|
|
Am. J. Path. 138: 403-412, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1992765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1992765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1992765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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">
|
|
Ada Hamosh - updated : 02/13/2025
|
|
</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">
|
|
Hilary J. Vernon - updated : 01/25/2024<br>Sonja A. Rasmussen - updated : 07/10/2023<br>Ada Hamosh - updated : 07/23/2018<br>Ada Hamosh - updated : 10/15/2013<br>Cassandra L. Kniffin - updated : 10/22/2010<br>Cassandra L. Kniffin - updated : 8/30/2010<br>Cassandra L. Kniffin - updated : 8/16/2010<br>Anne M. Stumpf - reorganized : 2/18/2010<br>Cassandra L. Kniffin - updated : 1/2/2008<br>Cassandra L. Kniffin - reorganized : 8/8/2003<br>Cassandra L. Kniffin - updated : 8/6/2003
|
|
</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 : 6/4/1986
|
|
</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">
|
|
alopez : 02/13/2025
|
|
</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 : 05/20/2024<br>alopez : 05/20/2024<br>alopez : 05/20/2024<br>alopez : 05/20/2024<br>carol : 01/26/2024<br>carol : 01/25/2024<br>carol : 07/10/2023<br>alopez : 09/27/2021<br>carol : 08/01/2019<br>carol : 08/01/2019<br>alopez : 07/23/2018<br>carol : 08/05/2016<br>carol : 07/09/2016<br>carol : 6/23/2016<br>carol : 5/25/2016<br>alopez : 10/15/2013<br>terry : 4/10/2012<br>wwang : 11/2/2010<br>ckniffin : 10/22/2010<br>wwang : 9/10/2010<br>ckniffin : 8/30/2010<br>wwang : 8/25/2010<br>ckniffin : 8/16/2010<br>alopez : 2/19/2010<br>alopez : 2/18/2010<br>wwang : 1/22/2008<br>ckniffin : 1/2/2008<br>terry : 2/22/2005<br>carol : 8/8/2003<br>carol : 8/8/2003<br>ckniffin : 8/6/2003<br>ckniffin : 8/6/2003<br>mimadm : 3/11/1994<br>carol : 10/14/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 12/19/1988
|
|
</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> 105210
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
AMYLOIDOSIS, HEREDITARY SYSTEMIC 1; AMYLD1
|
|
|
|
</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">
|
|
HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED<br />
|
|
TRANSTHYRETIN AMYLOIDOSIS<br />
|
|
AMYLOID POLYNEUROPATHY, FAMILIAL; FAP
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 271861, 85447, 85451;
|
|
|
|
|
|
<strong>DO:</strong> 0050638;
|
|
|
|
|
|
</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">
|
|
18q12.1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Amyloidosis, hereditary, transthyretin-related
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
105210
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
TTR
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
176300
|
|
</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 hereditary systemic amyloidosis-1 (AMYLD1) is caused by heterozygous mutation in the TTR gene (176300) on chromosome 18q12.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Hereditary amyloidoses are a clinically and genetically heterogeneous group of autosomal dominantly inherited diseases characterized by the deposit of unsoluble protein fibrils in the extracellular matrix. Patients with AMYLD1 typically present with polyneuropathy, carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal features, occasionally accompanied by vitreous opacities and renal insufficiency. In later stages of the disease severe diarrhea with malabsorption, cachexia, incapacitating neuropathy, severe cardiac disturbances, and marked orthostatic hypotension dominate the clinical picture. Death usually occurs 5 to 15 years after onset of symptoms (summary by Hund et al., 2001). </p><p><strong><em>Reviews</em></strong></p><p>
|
|
Ando et al. (2005) provided a review of transthyretin-related familial amyloid polyneuropathy. The authors stated that the phenotypes can be classified into neuropathic, oculoleptomeningeal, and cardiac. </p><p>Adams et al. (2019) reviewed hereditary transthyretin amyloidosis, discussing epidemiology, phenotypic heterogeneity, genetic heterogeneity and its influence on age of onset, pathophysiology, and the success of phase III studies of gene-silencing therapies. </p><p><strong><em>Genetic Heterogeneity of Hereditary Systemic Amyloidosis</em></strong></p><p>
|
|
AMYLD2 (105200) is caused by mutation in the fibrinogen A-alpha gene (FGA; 134820) on chromosome 4q31.</p><p>AMYLD3 (620657) is caused by mutation in the apolipoprotein A-1 gene (APOA1; 107680) on chromosome 11q23.</p><p>AMYLD4 (105120), or Finnish amyloidosis, is caused by mutation in the gelsolin gene (GSN; 137350) on chromosome 9q33.</p><p>AMYLD5 (620658) is caused by mutation in the lysozyme gene (LYZ; 153450) on chromosome 12q15.</p><p>AMYLD6 (620659) is caused by mutation in the beta-2 microglobulin gene (B2M; 109700) on chromosome 15q21.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Familial Amyloid Polyneuropathy</em></strong></p><p>
|
|
Familial amyloid polyneuropathy (FAP) was described by Andrade (1952) in the northern area of Portugal (reviewed by Saraiva, 2001). Kindreds had an age of onset of clinical symptoms in the third or fourth decade of life. Early impairment of temperature and pain sensation in the feet and autonomic dysfunction leading to paresis, malabsorption, sphincter dysfunction, electrocardiographic abnormalities, emaciation, and death were typical clinical features. </p><p>Age at onset varies greatly; within the ethnically and genetically homogeneous Portuguese population, age at onset was between 17 and 78 in the 1,233 patients examined to 1995 (Hund et al., 2001). Most patients present in the third or fourth decade, but onset of symptoms may be delayed until old age (Benson, 2001). Clinical disease usually progresses over 5 to 15 years and ends with death from cardiac failure, renal failure, or malnutrition. However, in some kindreds heterozygotes with late-onset disease have lived past age 90. </p><p>De Navasquez and Treble (1938) reported a possible case of FAP type I and showed that the patient reported by De Bruyn and Stern (1929) as Dejerine-Sottas progressive hypertrophic polyneuropathy (145900) had in fact suffered from amyloid neuropathy. Since the disorder began with 'pains in the arms, which worried him particularly at night whilst in bed,' he may have suffered from the Indiana variety (176300.0006). Onset was in the 40s. Two brothers and a sister had died of an identical condition 3 years after onset of symptoms. 'The father died of tubercle, the mother of old age.' The disease is milder in females. Vitreous opacities are frequent (Kaufman and Thomas, 1959). In both FAP I and FAP II (see 176300.0006), the amyloid is pericollagenous. In familial Mediterranean fever, it is perireticular. </p><p>Costa et al. (1978) concluded that the amyloid of familial amyloid polyneuropathy is distinct from the amyloid of acquired 'primary' and 'secondary' amyloidosis and of familial Mediterranean fever. They also concluded that it is closely related to prealbumin, or transthyretin. Interestingly, 'senile' cardiac amyloid (see later) is also derived from prealbumin and is indistinguishable from the amyloid of the hereditary amyloid neuropathies (Gorevic et al., 1982). (Immunoglobulin light chains are the origin of primary amyloid and AA protein is the origin of secondary amyloid.) Costa et al. (1978) were studying cases of the Andrade type of familial amyloidosis; Benson (1980, 1981) was presumably studying cases of the Indiana or Rukavina type (176300.0006). </p><p>In a Swedish kindred reported by Benson and Cohen (1977), affected persons presented with peripheral neuropathy in the fourth and fifth decades. A progressive sensory and motor loss started in the legs. Subsequently, renal, cardiac, gastrointestinal, ocular, and cutaneous involvement occurred. Histologically, amyloid deposition was mainly in connective tissue, including the unusual sites of the meninges and central nervous system. No abnormality of immunoglobulin or elevation of protein SAA (the serum precursor of secondary amyloid; 104750) was found. Some of the patients had been misdiagnosed as having syringomyelia. Benson (1981) showed partial amino acid sequence homology between human plasma prealbumin and the amyloid deposited in a member of this kindred. Libbey et al. (1984) reported a Texas kindred of German-English ancestry with familial amyloid polyneuropathy showing onset in the seventh decade. By an immunoperoxidase technique, prealbumin was demonstrated in the amyloid deposits. Munsat and Poussaint (1962) described the case of a patient also born in Texas with onset of type I FAP at age 59 years. Sequeiros (1984) suggested that this variation may be due to genetic heterogeneity and that these may be allelic disorders. By amino acid sequencing of abnormal transthyretin in these cases, it is now possible to confirm or reject this hypothesis. </p><p>Sequeiros and Saraiva (1987) reported a Portuguese-American family originating from Madeira in which amyloid neuropathy due to the usual met30 mutation had its onset in the seventh decade in all affected members of the family. Three asymptomatic relatives (aged 90, 73, and 48) were shown to carry the mutation. Possible mechanisms for the lack of penetrance and the variation in severity were discussed. Ikeda et al. (1987) reported clinicopathologic studies of patients with amyloid polyneuropathy in Japan. One group of patients was from Arao City in the southern island of Kiushu; a second group was from Ogawa village in Nagano Prefecture, located in a mountain valley in the central highlands of Japan. Considerable variability of the clinical picture was noted in the second group. </p><p>Yamada et al. (1987) described 2 Japanese nonfamilial cases of prealbumin-related amyloid polyneuropathy and referred to other published cases. These may represent new mutations. The molecular nature of the mutations was not determined. The findings of Tanaka et al. (1988) are pertinent. They described a 47-year-old Japanese woman with FAP without apparent familial occurrence of the disorder; however, her 81-year-old mother and 53-year-old sister were found to be asymptomatic carriers of the variant transthyretin as determined by radioimmunoassay. Biopsy of abdominal adipose tissue in the elderly mother showed amyloid deposits. </p><p>An autosomal dominant form of familial amyloid polyneuropathy in a Japanese kindred originating in the Nagasaki region was described by Ueno et al. (1988). The clinical phenotype most closely resembled that of type I FAP. Clinical manifestations began in the third decade. Affected individuals developed a polyneuropathy of the lower limbs and autonomic dysfunction. Vitreous opacities were seen in 6 of the 9 patients. Typically, death occurred 6 to 15 years after the onset of symptoms. Biopsy specimens from stomach, rectum, and sural nerve stained positive with Congo red. By electron microscopic analysis, amyloid was identified. Immunohistochemical staining with antisera to immunoglobulin light chain, A protein, and prealbumin was negative. Extracted amyloid fibrils did not react with anti-prealbumin serum. Biochemical analysis of the extracted protein showed no resemblance to prealbumin. Southern blot analysis failed to demonstrate any of the restriction fragment sites generated by known prealbumin variants in familial amyloid polyneuropathy. The authors concluded that this is an autosomal dominant variety of amyloidosis, which is not associated with the deposition of a prealbumin-related protein. </p><p>Coutinho and Sequeiros (1989) described a Portuguese family in which the Andrade type of familial amyloidopathy coexisted with Machado-Joseph disease (109150). Although no individual with both diseases was observed, they considered it not unexpected that they might occur together because of the relatively high frequency of both conditions in one area of Portugal.</p><p>Sandgren et al. (1991) published skeleton pedigrees showing the common ancestry in the 17th century of seemingly unrelated individuals alive currently. Patients who had vitreous opacities as a first symptom seemed to form a separate group with a later average age of onset. Sandgren et al. (1991) speculated that additional familial factors may modify the expression of the FAP gene, resulting in vitreous opacities. The mean age of onset for vitreous opacities was lower for homozygous than for heterozygous patients. Six homozygotes were shown in their pedigree charts. </p><p>Although the clinical manifestations and natural history vary, most forms of amyloidosis have polyneuropathy as the predominant feature. The amyloid polyneuropathy tends to involve small unmyelinated fibers, disproportionately affecting the autonomic nervous system in sensations of pain and temperature. Ando et al. (1994) demonstrated that blood flow was decreased in the peripheral tissues of amyloidosis patients and suggested that this effect could be mediated in part by a decreased production of nitric oxide, also known as endothelial-derived relaxing factor. </p><p>A substitution of methionine for valine at position 30 (GTG-to-ATG) results in the classic Swedish-Portuguese-Japanese amyloid polyneuropathy first delineated by Andrade of Porto, Portugal. The clinical phenotype is a progressive small fiber neuropathy leading predominantly to sensory and autonomic dysfunction. Ducla-Soares et al. (1994) studied 47 individuals with this disorder and found that autonomic dysfunction is the first manifestation in a significant proportion of patients, frequently preceding standard clinical neurologic or electroneurodiagnostic abnormalities. </p><p>Ando et al. (1995) found that in a patient with type I familial amyloidotic polyneuropathy who underwent liver transplantation without blood transfusion during the operation, variant TTR levels decreased in a time-dependent manner. Plasma half-life of variant TTR was calculated to be 2.1 days. Total protein, normal, and variant TTR levels in cerebrospinal fluid remained unchanged after liver transplantation, however. The authors speculated that, since autonomic dysfunction and sensorineuropathy significantly improve after liver transplantation (see later), the variant TTR produced by the choroid plexus may play only a small role in amyloid deposition in tissues. </p><p>Kyle (2001) provided a historical review of the development of knowledge concerning amyloidosis, including familial forms. He cited the family reported by De Bruyn and Stern (1929) as one of the earliest. The proband was a 52-year-old man who had had pain and numbness in his limbs for 3 years. He had a loss of energy and appetite and then developed severe diarrhea. Two brothers and a sister had died of a similar illness. </p><p>Ikeda et al. (2002) reviewed clinical findings and other aspects of familial amyloid polyneuropathy in Japan. They concluded that there is wide variability in phenotype, even among those with the same genotype. </p><p>Koike et al. (2004) compared the pathologic findings of 11 Japanese patients with onset of FAP before age 50 years who were from the 2 FAP-endemic regions in Japan to that of 11 Japanese patients with later-onset who were not from the 2 endemic regions. All patients carried the common V30M mutation in the TTR gene (176300.0001). Sural nerve biopsies in the early-onset cases showed predominant loss of small myelinated fibers. Sural nerve biopsies of late-onset cases showed variable fiber size distribution, axonal sprouting, more total loss of myelinated fibers, and relatively preserved unmyelinated fibers. Postmortem studies in both groups showed amyloid deposition throughout the length of nerves and in sympathetic and sensory ganglia, but deposition was greater in the early-onset cases. Early-onset cases also showed greater neuronal cell loss in sympathetic ganglia compared to dorsal root ganglia; the opposite was true in late-onset cases. TTR-positive, Congo red-negative amorphous material was more conspicuous in nerves from late- than early-onset cases. In extraneural sites, amyloid was more conspicuous in thyroid and kidney from early-onset cases, and in heart and hypophysis from late-onset cases. In early-onset cases, cardiac amyloid deposition was prominent in the atrium and subendocardium, but was conspicuous throughout the myocardium in late-onset cases. Koike et al. (2004) concluded that the pathology of early- and late-onset FAP TTR V30M mutation carriers correlated well with differences in clinical findings. </p><p>Liu et al. (2008) reported 5 unrelated Chinese Taiwanese patients with adult-onset rapidly progressive TTR-related amyloidosis. The average age at onset was 51 years. Four presented with paresthesia of the limbs and 1 with diarrhea. Clinical features related to the polyneuropathy included areflexia, impaired sensation, muscle weakness, and carpal tunnel syndrome. Sural nerve biopsy showed axonal degeneration and amyloid deposits. Autonomic dysfunction manifested as orthostatic hypotension, gastrointestinal dysautonomia, erectile dysfunction, and urinary retention. Two patients, and the affected mother of 1 of the patients, had cardiac dysfunction, including arrhythmia, cardiac hypertrophy, and heart failure. One patient had chronic renal dysfunction. All carried the same heterozygous mutation in the TTR gene (A97S; 176300.0052). Yang et al. (2010) reported 19 unrelated Taiwanese patients with FAP and the A97S mutation. Symptom onset ranged from 48 to 68 years, and severe disease progression occurred within 5 years. All had motor, sensory, and autonomic symptoms with loss of sensation to thermal stimuli and loss of proprioception. Seven patients showed additional rapid declines in neurologic function associated with elevation of protein content in the CSF. Sural nerve biopsies showed an eosinophilic deposition of TTR-positive amyloid and a pattern of axonal degeneration with loss of large and small myelinated fibers. Skin biopsies of all patients showed a severe loss of intraepidermal nerve fiber density and sparse degenerated fragmented dermal nerve fibers compared to controls; degree of loss of these fibers correlated with clinical severity. </p><p><strong><em>Cardiac Amyloidosis</em></strong></p><p>
|
|
Three mutations in TTR are notable for their association with amyloidosis presenting as cardiomyopathy without a significant degree of peripheral neuropathy (Benson, 1991). A thr60-to-ala substitution (T60A; 176300.0004) resulted in amyloidosis formerly termed 'Appalachian type' that was characterized by restrictive cardiomyopathy and autonomic dysfunction. A leu111-to-met mutation (L111M; 176300.0007) was identified in a single Danish family with cardiac amyloidosis and no evidence of peripheral neuropathy. A val122-to-ile substitution (V122I; 176300.0009) is associated with late-onset restrictive cardiomyopathy without significant peripheral neuropathy. This mutation is particularly frequent in African Americans, with an estimated allele frequency of 3.9%; after the age of 60, isolated cardiac amyloidosis is 4 times more common among blacks than whites in the United States (Jacobson et al., 1997). </p><p><strong><em>Leptomeningeal Amyloidosis</em></strong></p><p>
|
|
Leptomeningeal amyloidosis is distinct from other forms of transthyretin amyloidosis in that it exhibits primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment ('oculoleptomeningeal amyloidosis') (Vidal et al., 1996). </p><p>In a Hessian (German) kindred living in Ohio, Goren et al. (1980) described a form of autosomal dominant amyloidosis with manifestations limited to central nervous and ocular dysfunction: dementia, seizures, strokes, coma, and visual deterioration. The cerebrospinal fluid was xanthochromic with lymphocytic pleocytosis and elevated protein. Neurologic dysfunction was episodic, suggesting transient cortical ischemia. The seizures were attributed to small, superficial cortical infarcts resulting from occluded subarachnoid vessels. Obtundation and headache were attributed to intermittent hydrocephalus. Pathologic examinations showed severe, diffuse amyloidosis of the leptomeninges and subarachnoid vessels associated with patchy fibrosis and obliteration of the subarachnoid space. Amyloid deposits were prominent on the ependymal surfaces. Severe and diffuse neuronal loss and generalized subpial gliosis were found in the cerebrum and cerebellum, as well as occasional superficial brain infarcts. Amyloid was also found in the vitreous, the retinal internal limiting membrane, and the retinal vessels, particularly those in the nerve fiber layer. Only minimal amyloid deposition was found elsewhere. At least 5 instances of male-to-male transmission were observed. </p><p>Dowell et al. (2007) reported another affected member of the family reported by Goren et al. (1980). She was a 45-year-old woman who presented with progressive central nervous system (CNS) dysfunction over 4 months. Initial symptoms included headache, emesis, aphasia, facial weakness, and lower extremity paresthesias and weakness which progressed to paraplegia, incontinence, visual impairment, and deafness. She had hydrocephalus and died 3 months later. Postmortem examination showed extensive granulomatous vasculitis and inflammation of the leptomeninges consistent with primary angiitis of the CNS. Cerebral blood vessels showed congophilic red staining, and there was infarction and degeneration at all levels of the spinal cord. Dowell et al. (2007) suggested that amyloid deposition may have induced an inflammatory reaction resulting in vasculitis in this patient. </p><p>Uitti et al. (1988) described a Canadian family of Italian origin in which 3 members had oculoleptomeningeal amyloidosis. The 3 affected members of the family were twin brothers and the son of 1 of them. The clinical features were hemiplegic migraine, periodic obtundation, psychiatric symptoms, seizures, intracerebral hemorrhage, visual impairment, deafness, dysarthria, myelopathy, spasticity, and polyneuropathy. Onset was in the teens or twenties, with death ranging from age 29 to 62. Histopathologic findings were mainly amyloid deposition in the leptomeningeal and retinal vessels, in the vitreous humor, and in perivascular tissue throughout the body. Evaluation of the amyloid showed it to be derived from transthyretin. Uitti et al. (1988) pointed to cases reported by Hamburg (1971) and by Okayama et al. (1978) as representing probable cases of oculoleptomeningeal amyloidosis. </p><p>Garzuly et al. (1996) described a Hungarian family with autosomal dominant meningocerebrovascular amyloidosis. There were 4 definitely and 3 probably affected members over 4 generations. Clinical features included adult onset, memory disturbances, psychomotor deterioration, ataxia, and hearing loss. Other variable features included migraine-like headaches with vomiting, tremor, spastic paraparesis, nystagmus, hallucinations, and urinary retention. Progressive visual disturbance was absent. CSF protein was markedly elevated in all patients. Postmortem examination of 2 patients showed amyloid deposition in the leptomeninges, brainstem, and spinal cord. There was some systemic amyloid deposition in the heart, kidney, and skin. </p><p>Hagiwara et al. (2009) reported a 53-year-old Japanese man with leptomeningeal amyloidosis. The patient presented at age 48 years with chronic progressive polyradiculoneuropathy, severe sensory ataxia, bilateral sensorineural hearing loss, and cerebellar ataxia. There was no visceral organ involvement. He died at age 52 of multiple intracranial hemorrhages. Postmortem examination showed dense hyaline material in the piaarachnoid and leptomeningeal vessels of the brain that were positive for anti-TTR antibodies. Amyloid deposits involved the adventitia, media, and external elastic lamina of the vessels, and no amyloid deposits were identified within the spinal cord, nerve roots, dorsal root ganglia, and peripheral nerves. The spinal cord was compressed by thickened leptomeninges, in which massive amyloid deposits and reactive connective tissue formation was observed. The acoustic nerves and spinal nerve roots were entrapped by thickened leptomeninges. There were varying degrees of demyelination and axonal degeneration depending on the nerve fascicles. There was no visceral organ involvement. </p><p>Sousa et al. (2021) reviewed the current literature on CNS involvement in hereditary transthyretin amyloidosis. CNS symptoms included transient focal neurologic episodes (transient focal CNS dysfunction followed by complete recovery), ischemic and hemorrhagic stroke, cognitive decline, and cranial nerve dysfunction. Onset occurred early, referred to as oculoleptomeningeal amyloidosis (age of onset in the third to fifth decades), in patients with non-V30M TTR variants, or later. Symptomatic leptomeningeal accumulation of amyloid was a frequent late complication, especially in patients with the V30M TTR variant, occurring after at least 14 years of symptomatic peripheral nerve disease. However, pathologic studies in patients with hereditary transthyretin amyloidosis showed amyloid deposits in the leptomeningeal membranes and vessels beginning in early stages of the disease (as early as 3 years after disease onset). Because of improved survival associated with liver transplantation, CNS involvement was expected to become more apparent, with transient focal neurologic episodes observed in 12 to 31%, ischemic stroke in 5 to 16%, and cerebral hemorrhages in 1 to 5% of patients with the V30M variant after liver transplant. </p><p><strong><em>Senile Systemic Amyloidosis</em></strong></p><p>
|
|
Wildtype TTR is mildly amyloidogenic and is deposited as amyloid primarily in the heart of up to 25% of elderly persons, a condition termed senile systemic amyloidosis (Saraiva, 2002; Westermark et al., 1990). </p><p>Senile systemic amyloidosis, also referred to as senile cardiac amyloidosis, involves the lungs, liver, and kidneys as well as the heart. Crossreaction of antiserum to human prealbumin provides a test for distinguishing senile systemic amyloid from other forms of senile amyloid as well as from amyloid associated with multiple myeloma or primary systemic amyloidosis (Cornwell et al., 1981). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Before the emergence of molecular genetics, hereditary amyloidoses were classified into 4 subtypes according to symptom constellation and ethnic origin (summary by Hund et al., 2001). The course of disease beginning with sensorimotor polyneuropathy that starts in early adulthood symmetrically at the legs and progresses rather rapidly to incapacitate the patient within a few years has been labeled familial amyloid polyneuropathy type I (FAP I), also known as Portuguese, Portuguese-Swedish-Japanese, or Andrade type. FAP I can be considered the prototype of the manifestation of hereditary TTR amyloidosis. The overwhelming majority of cases of FAP I result from a val30-to-met (V30M; 176300.0001) substitution. A course of disease with neuropathy beginning at the hands and frequent carpal tunnel operations has been designated FAP II, also known as the Indiana/Swiss (176300.0006) or Maryland/German (176300.0003) type. Vitreous opacities occur early in the disease course, whereas impotence and renal insufficiency are rare. Amyloidosis due to mutations in the APOA1 gene (107650) has been referred to as FAP III or Iowa type (AMYLD3; 620657 and 107680.0010). The Finnish type of amyloidosis (105120) has been referred to as FAP IV and is caused by mutations in gelsolin (137350). </p><p>Systems based on clinical phenotypes have historically been used to classify the amyloidoses, but emphasis on the characterization of the amyloid fibril protein has proved more useful (Saraiva, 2002). In addition to hereditary amyloidosis, 2 other major forms of systemic amyloidosis exist. Immunoglobulin (AL) amyloidosis, formerly known as primary amyloidosis, is caused by the accumulation of monoclonal immunoglobulin (Ig) light chains as amyloid fibrils. Reactive (AA) amyloidosis, formerly known as secondary amyloidosis, is associated with chronic inflammatory diseases (e.g., rheumatoid arthritis, 180300; familial Mediterranean fever, 249100), and fibrils are derived from the circulating acute-phase reactant serum amyloid A protein (see 104750). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In reviewing 1,233 cases of FAP from 489 Portuguese families registered at the Centro de Estudos de Paramiloidose in Porto, Portugal, Coelho et al. (1994) found 159 cases in which neither parent had shown symptoms of this hereditary dominant form of peripheral neuropathy. These cases appeared to form a distinct group with a later age of onset (mean 45.1 years) than the group of patients with 1 affected parent (mean 31.2 years) and a geographic origin somewhat different from the areas where the disease is most prevalent. Although this group was not significantly different from the general group of patients in clinical presentation at onset and severity of the disease, the average interval between onset and diagnosis (mean 4.5 years) reflected the difficulties in diagnosing these patients in the absence of a positive family history. Coelho et al. (1994) suggested that in some families the FAP gene may result in a milder expression or even remain 'silent' for several generations. They pointed out that in Sweden a large proportion of cases are isolated (Drugge et al., 1993) and that in Majorca, 13.6% of patients are said to lack affected antecedents. Coelho et al. (1994) suggested that investigation of the reason for reduced penetrance might lead to elucidation of mechanisms involved in the pathogenetic process. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Management</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Holmgren et al. (1991) found that orthotopic liver transplantation caused prompt replacement of variant transthyretin by the donor wildtype in the plasma of patients with the met30 variant of familial amyloid polyneuropathy. Holmgren et al. (1993) reported clinical outcome 1 to 2 years after transplantation in 4 patients. Three of them showed improved general well being, walking ability, and bowel function, and 1 had regained normal bladder and bowel function. There had been little objective improvement in peripheral neuropathy. Although the fourth patient, who had the most severe neurologic deficits and a complicated postoperative course, had not improved, there had been no further deterioration. Two patients followed serially with quantitative scintigraphy using radiolabeled serum amyloid P component showed regression of visceral deposits after transplantation. Another FAP patient, who was monitored prospectively for 2 years but did not undergo transplantation, showed, as expected, progression of neuropathy and increased visceral amyloid deposition. </p><p>Amyloidogenic mutations in the TTR gene lead to decreased stability of the protein. Using isoelectric focusing in urea gradients, Altland and Winter (1999) were able to demonstrate a stabilizing effect of sulfite on TTR monomers and tetramers, as well as an increase in the tetramer/monomer ratio. They demonstrated that this ratio, which is decreased in FAP patients, can be increased to beyond normal levels. Altland and Winter (1999) showed that doses of sulfite that are tolerable in vivo produce a significant increase in the tetramer/monomer ratio, and they postulated that sulfite may be a potent drug for delaying the onset and progression of FAP. </p><p>Ikeda et al. (2002) noted that although results with liver transplantation had been favorable, the authors noted the need for less invasive and more effective treatments. </p><p>Ray and Lansbury (2004) noted that the general strategy of inhibiting potentially pathogenic aggregation by stabilizing native oligomers was proposed and accomplished by Koo et al. (1999), in the context of the aggregation-dependent degenerative disease familial amyloid polyneuropathy. Several approved drugs bind the TTR tetramer in an analogous manner as thyroxine (T4), inhibit TTR dissociation and aggregation, and prevent aggregation-associated toxicity in cell culture (Reixach et al., 2004). </p><p>Coelho et al. (2013) reported the results of 2 phase 1 clinical trials of RNAi against transthyretin. Two distinct first- and second-generation formulations were evaluated, the first in 32 patients with transthyretin amyloidosis and the second in 17 healthy volunteers. Rapid dose-dependent durable lowering of transthyretin levels was observed in both trials. Both compounds suppressed the production of both mutant and nonmutant transthyretin, establishing proof of concept for RNAi therapy targeting mRNA transcribed from a disease-causing gene. </p><p>Benson et al. (2018) conducted an international randomized double-blind, placebo-controlled, 15-month, phase 3 trial of inotersen, an antisense oligonucleotide inhibitor of the hepatic production of transthyretin, in adults with stage 1 (ambulatory) or stage 2 (ambulatory with assistance) hereditary transthyretin amyloidosis with polyneuropathy. Patients were randomly assigned, in a 2:1 ratio, to receive weekly subcutaneous injections of inotersen (300 mg) or placebo. A total of 172 patients (112 in the inotersen group and 60 in the placebo group) received at least 1 dose of a trial regimen, and 139 (81%) completed the intervention period. The primary end points were the change in the modified Neuropathy Impairment Score +7 (mNIS+7) and the change in the score on the patient-reported Norfolk Quality of Life-Diabetic Neuropathy (QOL-DN) questionnaire. A decrease in scores indicated improvement. Both primary efficacy assessments favored inotersen. Improvements were independent of disease stage, mutation type, or the presence of cardiomyopathy. There were 5 deaths in the inotersen group (4 consistent with progression or complication of underlying disease and 1 from intracranial hemorrhage associated with thrombocytopenia) and none in the placebo group. The most frequent serious adverse events in the inotersen group were glomerulonephritis (in 3 patients (3%)) and thrombocytopenia (in 3 patients (3%)), with 1 death associated with 1 of the cases of grade 4 thrombocytopenia. Thereafter, all patients received enhanced monitoring. Benson et al. (2018) concluded that inotersen improved the course of neurologic disease and quality of life in patients with hereditary transthyretin amyloidosis. Thrombocytopenia and glomerulonephritis were managed with enhanced monitoring. </p><p>Yamashita et al. (2019) demonstrated that patients with FAP and a non-V30M-TTR mutation had improved survival with liver transplant compared to nontransplanted patients. </p><p>Adams et al. (2023) reviewed therapeutic options for FAP, including liver transplant, TTR stabilizers, RNA interference (RNAi), and antisense oligonucleotides (ASO). Liver transplant was shown to double the survival of patients with the V30M mutation (176300.0001). The TTR stabilizer tafamidis was shown to slow progression of neuropathy in patients with the V30M mutation at early stages of disease. Patisiran, a TTR-targeted siRNA lipid nanoparticle agent, resulted in decreased serum TTR by 81% in 18 months and improvements in the mNIS+7. Inotersen, a TTR-targeted ASO, resulted in decreased serum TTR by 74% in 18 months and improvements in the mNIS+7, but was associated with events including thrombocytopenia and glomerulonephritis. Patisiran was also tested in patients with familial cardiac amyloidosis and resulted in improved 6-minute walk test but not survival. In patients with familial cardiac amyloidosis, tafamidis resulted in increased survival at 30 months compared to placebo. </p><p>Fontana et al. (2025) reported the results of a double-blind, randomized trial of 665 patients with transthyretin amyloidosis with cardiomyopathy (ATTR-CM) in a 1:1 ratio to receive vutrisiran (25 mg, 326 patients) or placebo (329 patients) every 12 weeks for up to 36 months. Vutrisiran is a subcutaneously administered RNA interference therapeutic agent that inhibits the production of hepatic transthyretin. The primary end point was a composite of death from any cause and recurrent cardiovascular events. Secondary end points included death from any cause, the change from baseline in the distance covered on the 6-minute walk test, and the change from baseline in the Kansas City Cardiomyopathy Questionnaire-Overall Summary (KCCQ-OS) score. The efficacy end points were assessed in the overall population and in the monotherapy population (the patients who were not receiving tafamidis at baseline) and were tested hierarchically. Vutrisiran treatment led to a lower risk of death from any cause and recurrent cardiovascular events than placebo (hazard ratio in the overall population, 0.72; 95% confidence interval [CI], 0.56 to 0.93; p = 0.01; hazard ratio in the monotherapy population, 0.67; 95% CI, 0.49 to 0.93; p = 0.02) and a lower risk of death from any cause through 42 months (hazard ratio in the overall population, 0.65; 95% CI, 0.46 to 0.90; p = 0.01). Among the patients in the overall population, 125 in the vutrisiran group and 159 in the placebo group had at least 1 primary end-point event. In the overall population, treatment with vutrisiran resulted in less of a decline in the distance covered on the 6-minute walk test than placebo (least-squares mean difference, 26.5 m; 95% CI, 13.4 to 39.6; p less than 0.001) and less of a decline in the KCCQ-OS score (least-squares mean difference, 5.8 points; 95% CI, 2.4 to 9.2; p less than 0.001). Similar benefits were observed in the monotherapy population. The incidence of adverse events was similar in the 2 groups (99% in the vutrisiran group and 98% in the placebo group); serious adverse events occurred in 62% of the patients in the vutrisiran group and in 67% of those in the placebo group. Treatment with vutrisiran lowered the risk of death and cardiovascular events compared with placebo and preserved functional capacity and quality of life. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The genetic defect in the kindreds from northern Portugal described by Andrade (1952) was heterozygosity for a valine-to-methionine substitution at residue 30 of transthyretin (V30M; 176300.0001) (Saraiva et al., 1984). Saraiva (2001) reported that over 500 kindreds had been identified in Portugal, constituting the largest focus of FAP worldwide. The second largest focus of V30M FAP is northern Sweden, where more than 350 families have been diagnosed (Holmgren et al., 1994). A few cases of homozygosity for the V30M mutation have been reported but do not lead to a more severe form of the disease (Holmgren et al., 1988). </p><p>In a Hungarian family with meningocerebrovascular amyloidosis, Garzuly et al. (1996) and Vidal et al. (1996) identified a mutation in the transthyretin gene (D18G; 176300.0047). Herrick et al. (1996) identified a common mutation in the TTR gene (V30M; 176300.0001) in a woman with leptomeningeal amyloidosis. </p><p>In a family with oculoleptomeningeal amyloidosis reported by Goren et al. (1980), Petersen et al. (1997) identified a mutation in the TTR gene (176300.0049). In affected members of the family with oculoleptomeningeal amyloidosis reported by Uitti et al. (1988), Uemichi et al. (1999) identified a heterozygous mutation in the transthyretin gene (176300.0048). </p><p>In a large Swedish family with autosomal dominant oculoleptomeningeal amyloidosis characterized by seizures, dementia, stroke-like episodes, ataxia, and, in some, vitreous amyloid, Blevins et al. (2003) identified a mutation in the TTR gene (176300.0050). </p><p>In 5 American and 1 Brazilian case of hereditary amyloid polyneuropathy, and in 1 Brazilian case that was typical except for the absence of a positive family history, Dalakas and Engel (1981) demonstrated that the amyloid stained with antiprealbumin, as had been shown in the Portuguese type. No staining was demonstrated with antibodies specific for kappa and lambda proteins. The patients studied included 1 from the large kindred reported by Mahloudji et al. (1969); patients who represented an aggressive, early-adult-onset, autosomal dominant type reported by Kaufman (1958) and Wong and McFarlin (1967), and shown by Jacobson et al. (1992) to have a leu55-to-pro substitution in the TTR gene (176300.0022); and persons of Portuguese extraction and brothers of Greek extraction with an aggressive, mid-adult-onset, autosomal dominant form. The authors suggested that prealbumin-like protein may be a feature common to the amyloid deposits in many and perhaps all the forms of hereditary amyloid polyneuropathy. </p><p>Hagiwara et al. (2009) reported a 53-year-old Japanese man with leptomeningeal amyloidosis in whom they identified a heterozygous mutation in the TTR gene (A25T; 176300.0051). Hagiwara et al. (2009) referred to the studies of Sekijima et al. (2005) who showed that TTR variants of the leptomeningeal type of amyloidosis, such as A25T, have faster homotetrameric dissociation rates compared to other TTR variants. The A25T variant was secreted more efficiently from choroid plexus cells compared to hamster kidney and mouse liver cells, possibly via a T4-chaperoning mechanism. The D18G variant did not form tetramers and was targeted for endoplasmic reticulum (ER)-associated degradation, leading to low secretion levels. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Yi et al. (1991) introduced the human TTR gene carrying the val30-to-met mutation into transgenic mice and demonstrated that amyloid deposition started in the gastrointestinal tract, cardiovascular system, and kidneys 6 months after birth and extended to various other organs and tissues with advancing age. By the age of 24 months, the pattern of amyloid deposition was similar to that observed in human autopsy cases, except for its absence in the choroid plexus and in the peripheral and autonomic nervous systems. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Benson (1986) was of the view that the Portuguese disease was imported from Sweden. From Portugal, it appeared to have spread to Japan.</p><p>Coimbra and Andrade (1971) reported somewhat unexpected electron microscopic findings demonstrating that the primary change is one of myelin degeneration, followed by axoplasmic degeneration and only subsequently by accumulation of amyloid deposits which do not cause nerve compression. This suggested that the amyloid accumulations are secondary to the peripheral nerve degeneration. </p><p>Coutinho and Sequeiros (1989) suggested that the so-called Iiyama type of FAP seen in Japan and characterized by the same met30 mutation of the TTR gene as in the Portuguese cases but associated with cerebellar and pyramidal signs (Furuya et al., 1987) may represent the simultaneous occurrence of FAP type I and Machado-Joseph disease (MJD; 109150), both disorders of relatively high frequency in Portuguese. The MJD mutation was later determined to be in the ataxin-3 gene (ATXN3; 607047) on chromosome 14q24.3-q33. Ikeda et al. (1996) found that the family studied by Furuya et al. (1987) and others carried mutations in both the TTR and ATXN1 (601556) genes and thus represented the coexistence of FAP and spinocerebellar ataxia-1 (164400). </p><p>Ironically, George G. Glenner, who made major contributions to the understanding of amyloidosis, succumbed to cardiac amyloidosis of the transthyretin type (Sipe, 1995). Glenner et al. (1971) reported that the fibrils in primary amyloidosis, or amyloidosis associated with multiple myeloma, are composed of the N-terminal variable region of the immunoglobulin light chain. Glenner et al. (1974) defined the beta-pleated sheet structure of the amyloid fibril. Glenner and Wong (1984) defined the A-beta fibril protein associated with Alzheimer disease (104760). </p><p>It seems well established that the clinical picture differs in persons from different genetic backgrounds. For example, the methionine-30 mutation in a U.S. family of English descent invariably produces cardiomyopathy, whereas among the Swedes the same mutation is rarely accompanied by cardiomyopathy and instead shows the kidneys as the main target, with patients dying of renal failure (Holmgren et al., 1988). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Coimbra and Andrade (1971)
|
|
</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">
|
|
Adams, D., Algalarrondo, V., Echaniz-Laguna, A.
|
|
<strong>Hereditary transthyretin amyloidosis in the era of RNA interference, antisense oligonucleotide, and CRISPR-Cas9 treatments.</strong>
|
|
Blood 142: 1600-1612, 2023.
|
|
|
|
|
|
[PubMed: 37624911]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood.2023019884]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Adams, D., Koike, H., Slama, M., Coelho, T.
|
|
<strong>Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease.</strong>
|
|
Nat. Rev. Neurol. 15: 387-404, 2019.
|
|
|
|
|
|
[PubMed: 31209302]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/s41582-019-0210-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Altland, K., Winter, P.
|
|
<strong>Potential treatment of transthyretin-type amyloidoses by sulfite.</strong>
|
|
Neurogenetics 2: 183-188, 1999.
|
|
|
|
|
|
[PubMed: 10541593]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s100480050081]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ando, Y., Nakamura, M., Araki, S.
|
|
<strong>Transthyretin-related familial amyloidotic polyneuropathy.</strong>
|
|
Arch. Neurol. 62: 1057-1062, 2005.
|
|
|
|
|
|
[PubMed: 16009758]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.62.7.1057]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ando, Y., Tanaka, Y., Nakazato, M., Ericzon, B.-G., Yamashita, T., Tashima, K., Sakashita, N., Suga, M., Uchino, M., Ando, M.
|
|
<strong>Change in variant transthyretin levels in patients with familial amyloidotic polyneuropathy type I following liver transplantation.</strong>
|
|
Biochem. Biophys. Res. Commun. 211: 354-358, 1995.
|
|
|
|
|
|
[PubMed: 7794243]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1995.1820]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ando, Y., Yamashita, T., Tanaka, Y., Tashima, K., Yonehara, T., Gotoh, T., Sakashita, N., Uchino, M., Ando, M.
|
|
<strong>Role of nitric oxide in the peripheral vessels of patients with familial amyloidotic polyneuropathy (FAP) type I.</strong>
|
|
J. Auton. Nerv. Syst. 50: 79-85, 1994.
|
|
|
|
|
|
[PubMed: 7844317]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0165-1838(94)90125-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Andrade, C.
|
|
<strong>A peculiar form of peripheral neuropathy: familial atypical generalised amyloidosis with special involvement of peripheral nerves.</strong>
|
|
Brain 75: 408-427, 1952.
|
|
|
|
|
|
[PubMed: 12978172]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/75.3.408]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benson, M. D., Cohen, A. S.
|
|
<strong>Generalized amyloid in a family of Swedish origin: a study of 426 family members in 7 generations of a new kinship with neuropathy, nephropathy and central nervous system involvement.</strong>
|
|
Ann. Intern. Med. 86: 419-424, 1977.
|
|
|
|
|
|
[PubMed: 192115]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7326/0003-4819-86-4-419]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benson, M. D., Waddington-Cruz, M., Berk, J. L., Polydefkis, M., Dyck, P. J., Wang, A. K., Plante-Bordeneuve, V., Barroso, F. A., Merlini, G., Obici, L., Scheinberg, M., Brannagan, T. H., III, and 23 others.
|
|
<strong>Inotersen treatment for patients with hereditary transthyretin amyloidosis.</strong>
|
|
New Eng. J. Med. 379: 22-31, 2018.
|
|
|
|
|
|
[PubMed: 29972757]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa1716793]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benson, M. D.
|
|
<strong>Characterization of an amyloid fibril protein in heredofamilial amyloidosis. (Abstract)</strong>
|
|
Clin. Res. 28: 340A, 1980.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benson, M. D.
|
|
<strong>Partial amino acid sequence homology between an heredofamilial amyloid protein and human plasma prealbumin.</strong>
|
|
J. Clin. Invest. 67: 1035-1041, 1981.
|
|
|
|
|
|
[PubMed: 6782125]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/jci110114]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benson, M. D.
|
|
<strong>Personal Communication.</strong>
|
|
Indianapolis, Ind. 12/22/1986.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benson, M. D.
|
|
<strong>Inherited amyloidosis.</strong>
|
|
J. Med. Genet. 28: 73-78, 1991.
|
|
|
|
|
|
[PubMed: 1848299]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.28.2.73]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benson, M. D.
|
|
<strong>Amyloidosis. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. 4. (8th ed.)</strong>
|
|
New York: McGraw-Hill (pub.) 2001. Pp. 5345-5378.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Blevins, G., Macaulay, R., Harder, S., Fladeland, D., Yamashita, T., Yazaki, M., Hamidi Asl, K., Benson, M. D., Donat, J. R.
|
|
<strong>Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant tyr69his.</strong>
|
|
Neurology 60: 1625-1630, 2003.
|
|
|
|
|
|
[PubMed: 12771253]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000065901.18353.ab]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Coelho, T., Adams, D., Silva, A., Lozeron, P., Hawkins, P. N., Mant, T., Perez, J., Chiesa, J., Warrington, S., Tranter, E., Munisamy, M., Falzone, R., and 19 others.
|
|
<strong>Safety and efficacy of RNAi therapy for transthyretin amyloidosis.</strong>
|
|
New Eng. J. Med. 369: 819-829, 2013.
|
|
|
|
|
|
[PubMed: 23984729]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa1208760]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Coelho, T., Sousa, A., Lourenco, E., Ramalheira, J.
|
|
<strong>A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.</strong>
|
|
J. Med. Genet. 31: 293-299, 1994.
|
|
|
|
|
|
[PubMed: 8071954]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.31.4.293]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Coimbra, A., Andrade, C.
|
|
<strong>Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. I. Interstitial changes.</strong>
|
|
Brain 94: 199-206, 1971.
|
|
|
|
|
|
[PubMed: 4328329]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/94.2.199]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Coimbra, A., Andrade, C.
|
|
<strong>Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. II. Nerve fiber changes.</strong>
|
|
Brain 94: 207-212, 1971.
|
|
|
|
|
|
[PubMed: 4328330]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/94.2.207]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cornwell, G. G., Westermark, P., Natvig, J. B., Murdock, W.
|
|
<strong>Senile cardiac amyloid: evidence that fibrils contain a protein immunologically related to prealbumin.</strong>
|
|
Immunology 44: 447-452, 1981.
|
|
|
|
|
|
[PubMed: 7033114]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Costa, P. P., Figueira, A. S., Bravo, F. R.
|
|
<strong>Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.</strong>
|
|
Proc. Nat. Acad. Sci. 75: 4499-4503, 1978.
|
|
|
|
|
|
[PubMed: 279930]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.75.9.4499]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Coutinho, P., Sequeiros, J.
|
|
<strong>Familial amyloidotic polyneuropathy and Machado-Joseph disease: two rare autosomal dominant neurologic diseases in the same family: the 'Iiyama type' of FAP? (Abstract)</strong>
|
|
Am. J. Hum. Genet. 45 (suppl.): A43, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dalakas, M. C., Engel, W. K.
|
|
<strong>Amyloid in hereditary amyloid polyneuropathy is related to prealbumin.</strong>
|
|
Arch. Neurol. 38: 420-422, 1981.
|
|
|
|
|
|
[PubMed: 7018469]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1981.00510070054008]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
De Bruyn, R. S., Stern, R. O.
|
|
<strong>A case of the progressive hypertrophic polyneuritis of Dejerine and Sottas, with pathological examination.</strong>
|
|
Brain 52: 84-107, 1929.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
De Navasquez, S., Treble, H. A.
|
|
<strong>A case of primary generalized amyloid disease with involvement of the nerves.</strong>
|
|
Brain 61: 116-128, 1938.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dowell, J. D., Fleck, J. D., Vakili, S. T., Benson, M. D.
|
|
<strong>Familial oculoleptomeningeal amyloidosis associated with primary angiitis of the CNS.</strong>
|
|
Neurology 68: 77-78, 2007.
|
|
|
|
|
|
[PubMed: 17200500]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000250343.34110.79]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Drugge, U., Andersson, R., Chizari, F., Danielsson, M., Holmgren, G., Sandgren, O., Sousa, A.
|
|
<strong>Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis.</strong>
|
|
J. Med. Genet. 30: 388-392, 1993.
|
|
|
|
|
|
[PubMed: 8100581]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.30.5.388]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ducla-Soares, J., Alves, M. M., Carvalho, M., Povoa, P., Conceicao, I., Sales Luis, M. L.
|
|
<strong>Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type.</strong>
|
|
Acta Neurol. Scand. 90: 266-269, 1994.
|
|
|
|
|
|
[PubMed: 7839813]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1600-0404.1994.tb02719.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fontana, M., Berk, J. L., Gillmore, J. D., Witteles, R. M., Grogan, M., Drachman, B., Damy, T., Garcia-Pavia, P., Taubel, J., Solomon, S. D., Sheikh, F. H., Tahara, N., and 26 others.
|
|
<strong>Vutrisiran in patients with transthyretin amyloidosis with cardiomyopathy.</strong>
|
|
New Eng. J. Med. 392: 33-44, 2025.
|
|
|
|
|
|
[PubMed: 39213194]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa2409134]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Furuya, H., Yoshioka, K., Sasaki, H., Sakaki, Y., Nakazato, M., Matsuo, H., Nakadai, A., Ikeda, S., Yanagisawa, N.
|
|
<strong>Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.</strong>
|
|
J. Clin. Invest. 80: 1706-1711, 1987.
|
|
|
|
|
|
[PubMed: 3479441]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113261]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Garzuly, F., Vidal, R., Wisniewski, T., Brittig, F., Budka, H.
|
|
<strong>Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR asp18gly).</strong>
|
|
Neurology 47: 1562-1567, 1996. Note: Erratum: Neurology 48: 1143 only, 1997.
|
|
|
|
|
|
[PubMed: 8960746]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.47.6.1562]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Glenner, G. G., Eanes, E. D., Bladen, H. A., Linke, R. P., Termine, J. D.
|
|
<strong>Beta-pleated sheets fibrils: a comparison of native amyloid with synthetic protein fibrils.</strong>
|
|
J. Histochem. Cytochem. 22: 1141-1158, 1974.
|
|
|
|
|
|
[PubMed: 4443557]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1177/22.12.1141]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Glenner, G. G., Terry, W., Harada, M., Isersky, C., Page, D.
|
|
<strong>Amyloid fibril proteins: proof of homology with immunoglobulin light chains by sequence analyses.</strong>
|
|
Science 172: 1150-1151, 1971.
|
|
|
|
|
|
[PubMed: 4102463]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.172.3988.1150]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Glenner, G. G., Wong, C. W.
|
|
<strong>Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein.</strong>
|
|
Biochem. Biophys. Res. Commun. 120: 885-890, 1984.
|
|
|
|
|
|
[PubMed: 6375662]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0006-291x(84)80190-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Goren, H., Steinberg, M. C., Farboody, G. H.
|
|
<strong>Familial oculoleptomeningeal amyloidosis.</strong>
|
|
Brain 103: 473-495, 1980.
|
|
|
|
|
|
[PubMed: 7417777]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/103.3.473]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gorevic, P. D., Pras, M., Wright, J. R., Frangione, B.
|
|
<strong>'Senile' cardiac amyloidosis: isolation of fibrils and immunohistological identity with heredofamilial neuropathic amyloid due to tissue deposition of prealbumin. (Abstract)</strong>
|
|
Clin. Res. 30: 349A, 1982.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hagiwara, K., Ochi, H., Suzuki, S., Shimizu, Y., Tokuda, T., Murai, H., Shigeto, H., Ohyagi, Y., Iwata, M., Iwaki, T., Kira, J.
|
|
<strong>Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr.</strong>
|
|
Neurology 72: 1358-1360, 2009.
|
|
|
|
|
|
[PubMed: 19365058]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/WNL.0b013e3181a0fe74]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hamburg, A.
|
|
<strong>Unusual cause of vitreous opacities: primary familial amyloidosis.</strong>
|
|
Ophthalmologica 162: 173-177, 1971.
|
|
|
|
|
|
[PubMed: 5089749]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000306260]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Herrick, M. K., DeBruyne, K., Horoupian, D. S., Skare, J., Vanefsky, M. A., Ong, T.
|
|
<strong>Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.</strong>
|
|
Neurology 47: 988-992, 1996.
|
|
|
|
|
|
[PubMed: 8857732]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.47.4.988]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holmgren, G., Costa, P. M. P., Andersson, C., Asplund, K., Steen, L., Beckman, L., Nylander, P.-O., Teixeira, A., Saraiva, M. J. M., Costa, P. P.
|
|
<strong>Geographical distribution of TTR met-30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.</strong>
|
|
J. Med. Genet. 31: 351-354, 1994.
|
|
|
|
|
|
[PubMed: 8064809]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.31.5.351]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holmgren, G., Ericzon, B.-G., Groth, C.-G., Steen, L., Suhr, O., Andersen, O., Wallin, B. G., Seymour, A., Richardson, S., Hawkins, P. N., Pepys, M. B.
|
|
<strong>Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis.</strong>
|
|
Lancet 341: 1113-1116, 1993.
|
|
|
|
|
|
[PubMed: 8097803]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0140-6736(93)93127-m]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holmgren, G., Haettner, E., Nordenson, I., Sandgren, O., Steen, L., Lundgren, E.
|
|
<strong>Homozygosity for the transthyretin-met(30)-gene in two Swedish sibs with familial amyloidotic polyneuropathy.</strong>
|
|
Clin. Genet. 34: 333-338, 1988.
|
|
|
|
|
|
[PubMed: 3229002]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb02887.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holmgren, G., Steen, L., Ekstedt, J., Groth, C.-G., Ericzon, B.-G., Eriksson, S., Andersen, O., Karlberg, I., Norden, G., Nakazato, M., Hawkins, P., Richardson, S., Pepys, M.
|
|
<strong>Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30).</strong>
|
|
Clin. Genet. 40: 242-246, 1991.
|
|
|
|
|
|
[PubMed: 1685359]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1991.tb03085.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hund, E., Linke, R. P., Willig, M. D., Grau, A.
|
|
<strong>Transthyretin-associated neuropathic amyloidosis: pathogenesis and treatment.</strong>
|
|
Neurology 56: 431-435, 2001.
|
|
|
|
|
|
[PubMed: 11261421]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.56.4.431]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ikeda, S., Nakazato, M., Ando, Y., Sobue, G.
|
|
<strong>Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.</strong>
|
|
Neurology 58: 1001-1007, 2002.
|
|
|
|
|
|
[PubMed: 11940682]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.58.7.1001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ikeda, S., Yanagisawa, N., Hanyu, N., Furihata, K., Kobayashi, T.
|
|
<strong>Coexistence of type I familial amyloid polyneuropathy and spinocerebellar ataxia type 1: clinical and genetic studies of a Japanese family.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 60: 586-598, 1996.
|
|
|
|
|
|
[PubMed: 8778271]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.60.5.586-a]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ikeda, S.-I., Hanyu, N., Hongo, M., Yoshioka, J., Oguchi, H., Yanagisawa, N., Kobayashi, T., Tsukagoshi, H., Ito, N., Yokota, T.
|
|
<strong>Hereditary generalized amyloidosis with polyneuropathy: clinicopathological study of 65 Japanese patients.</strong>
|
|
Brain 110: 315-337, 1987.
|
|
|
|
|
|
[PubMed: 3032328]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/110.2.315]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jacobson, D. R., McFarlin, D. E., Kane, I., Buxbaum, J. N.
|
|
<strong>Transthyretin pro-55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.</strong>
|
|
Hum. Genet. 89: 353-356, 1992.
|
|
|
|
|
|
[PubMed: 1351039]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00220559]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jacobson, D. R., Pastore, R. D., Yaghoubian, R., Kane, I., Gallo, G., Buck, F. S., Buxbaum, J. N.
|
|
<strong>Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in Black Americans.</strong>
|
|
New Eng. J. Med. 336: 466-473, 1997.
|
|
|
|
|
|
[PubMed: 9017939]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199702133360703]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kaufman, H. E., Thomas, L. B.
|
|
<strong>Vitreous opacities diagnostic of familial primary amyloidosis.</strong>
|
|
New Eng. J. Med. 261: 1267-1271, 1959.
|
|
|
|
|
|
[PubMed: 14404854]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM195912172612503]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kaufman, H. E.
|
|
<strong>Primary familial amyloidosis.</strong>
|
|
AMA Arch. Ophthal. 60: 1036-1043, 1958.
|
|
|
|
|
|
[PubMed: 13593935]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1958.00940081056009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Koike, H., Misu, K., Sugiura, M., Iijima, M., Mori, K., Yamamoto, M., Hattori, N., Mukai, E., Ando, Y., Ikeda, S., Sobue, G.
|
|
<strong>Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy.</strong>
|
|
Neurology 63: 129-138, 2004.
|
|
|
|
|
|
[PubMed: 15249622]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000132966.36437.12]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Koo, E. H., Lansbury, P. T., Jr., Kelly, J. W.
|
|
<strong>Amyloid diseases: abnormal protein aggregation in neurodegeneration.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 9989-9990, 1999.
|
|
|
|
|
|
[PubMed: 10468546]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.96.18.9989]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kyle, R. A.
|
|
<strong>Amyloidosis: a convoluted story.</strong>
|
|
Brit. J. Haemat. 114: 529-538, 2001.
|
|
|
|
|
|
[PubMed: 11552976]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1365-2141.2001.02999.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Libbey, C. A., Rubinow, A., Shirahama, T., Deal, C., Cohen, A. S.
|
|
<strong>Familial amyloid polyneuropathy: demonstration of prealbumin in a kinship of German/English ancestry with onset in the seventh decade.</strong>
|
|
Am. J. Med. 76: 18-24, 1984.
|
|
|
|
|
|
[PubMed: 6691355]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9343(84)90739-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Liu, Y.-T., Lee, Y.-C., Yang, C.-C., Chen, M.-L., Lin, K.-P.
|
|
<strong>Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression.</strong>
|
|
J. Neurol. Sci. 267: 91-99, 2008.
|
|
|
|
|
|
[PubMed: 18022643]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.jns.2007.10.011]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mahloudji, M., Teasdall, R. D., Adamkiewicz, J. J., Hartmann, W. H., Lambird, P. A., McKusick, V. A.
|
|
<strong>The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type).</strong>
|
|
Medicine 48: 1-37, 1969.
|
|
|
|
|
|
[PubMed: 4884226]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Munsat, T. L., Poussaint, A. F.
|
|
<strong>Clinical manifestations and diagnosis of amyloid polyneuropathy: report of three cases.</strong>
|
|
Neurology 12: 413-422, 1962.
|
|
|
|
|
|
[PubMed: 14477245]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.12.6.413]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Okayama, M., Goto, I., Ogata, J., Omae, T., Yoshida, I., Inomata, H.
|
|
<strong>Primary amyloidosis with familial vitreous opacities: an unusual case and family.</strong>
|
|
Arch. Intern. Med. 138: 105-111, 1978.
|
|
|
|
|
|
[PubMed: 202208]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Petersen, R. B., Goren, H., Cohen, M., Richardson, S. L., Tresser, N., Lynn, A., Gali, M., Estes, M., Gambetti, P.
|
|
<strong>Transthyretin amyloidosis: a new mutation associated with dementia.</strong>
|
|
Ann. Neurol. 41: 307-313, 1997.
|
|
|
|
|
|
[PubMed: 9066351]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410410305]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ray, S. S., Lansbury, P. T., Jr.
|
|
<strong>A possible therapeutic target for Lou Gehrig's disease. (Commentary)</strong>
|
|
Proc. Nat. Acad. Sci. 101: 5701-5702, 2004.
|
|
|
|
|
|
[PubMed: 15079068]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0401934101]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reixach, N., Deechongkit, S., Jiang, X., Kelly, J. W., Buxbaum, J. N.
|
|
<strong>Tissue damage in the amyloidoses: transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 2817-2822, 2004.
|
|
|
|
|
|
[PubMed: 14981241]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0400062101]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sandgren, O., Drugge, U., Holmgren, G., Sousa, A.
|
|
<strong>Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study.</strong>
|
|
Clin. Genet. 40: 452-460, 1991.
|
|
|
|
|
|
[PubMed: 1685700]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1991.tb03117.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saraiva, M. J. M., Birken, S., Costa, P. P., Goodman, D. S.
|
|
<strong>Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type: definition of molecular abnormality in transthyretin (prealbumin).</strong>
|
|
J. Clin. Invest. 74: 104-119, 1984.
|
|
|
|
|
|
[PubMed: 6736244]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI111390]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saraiva, M. J. M.
|
|
<strong>Transthyretin mutations in hyperthyroxinemia and amyloid diseases.</strong>
|
|
Hum. Mutat. 17: 493-503, 2001.
|
|
|
|
|
|
[PubMed: 11385707]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1132]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saraiva, M. J. M.
|
|
<strong>Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies.</strong>
|
|
Expert Rev. Molec. Med. 4: 1-11, 2002. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 14987380]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1017/S1462399402004647]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sekijima, Y., Wiseman, R. L., Matteson, J., Hammarstrom, P., Miller, S. R., Sawkar, A. R., Balch, W. E., Kelly, J. W.
|
|
<strong>The biological and chemical basis for tissue-selective amyloid disease.</strong>
|
|
Cell 121: 73-85, 2005.
|
|
|
|
|
|
[PubMed: 15820680]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.cell.2005.01.018]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sequeiros, J., Saraiva, M. J. M.
|
|
<strong>Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR (met30) mutation in hereditary amyloid neuropathy: type I (Portuguese, Andrade).</strong>
|
|
Am. J. Med. Genet. 27: 345-357, 1987.
|
|
|
|
|
|
[PubMed: 3037905]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.1320270213]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sequeiros, J.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 2/1984.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sipe, J. D.
|
|
<strong>In memoriam: George G. Glenner, M.D. (1927-1995).</strong>
|
|
Int. J. Exp. Clin. Invest. 2: 149, 1995.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sousa, L., Coelho, T., Taipa, R.
|
|
<strong>CNS involvement in hereditary transthyretin amyloidosis.</strong>
|
|
Neurology 97: 1111-1119, 2021.
|
|
|
|
|
|
[PubMed: 34663645]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/WNL.0000000000012965]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tanaka, M., Hirai, S., Matsubara, E., Okamoto, K., Morimatsu, M., Nakazato, M.
|
|
<strong>Familial amyloidotic polyneuropathy without familial occurrence: carrier detection by the radioimmunoassay of variant transthyretin.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 51: 576-578, 1988.
|
|
|
|
|
|
[PubMed: 3379433]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.51.4.576]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Uemichi, T., Uitti, R. J., Koeppen, A. H., Donat, J. R., Benson, M. D.
|
|
<strong>Oculoleptomeningeal amyloidosis associated with a new transthyretin variant ser64.</strong>
|
|
Arch. Neurol. 56: 1152-1155, 1999.
|
|
|
|
|
|
[PubMed: 10488818]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.56.9.1152]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ueno, S., Nakamura, Y., Takahashi, M., Tarui, S., Sasaki, H.
|
|
<strong>'Nonprealbumin-related' familial amyloid polyneuropathy.</strong>
|
|
Neurology 38: 333-334, 1988.
|
|
|
|
|
|
[PubMed: 2829057]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.38.2.333]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Uitti, R. J., Donat, J. R., Rozdilsky, B., Schneider, R. J., Koeppen, A. H.
|
|
<strong>Familial oculoleptomeningeal amyloidosis: report of a new family with unusual features.</strong>
|
|
Arch. Neurol. 45: 1118-1122, 1988.
|
|
|
|
|
|
[PubMed: 3178532]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1988.00520340072015]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vidal, R., Garzuly, F., Budka, H., Lalowski, M., Linke, R. P., Brittig, F., Frangione, B., Wisniewski, T.
|
|
<strong>Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTR D18G).</strong>
|
|
Am. J. Path. 148: 361-366, 1996.
|
|
|
|
|
|
[PubMed: 8579098]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Westermark, P., Sletten, K., Johansson, B., Cornwell, G. G., III.
|
|
<strong>Fibril in senile systemic amyloidosis is derived from normal transthyretin.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 2843-2845, 1990.
|
|
|
|
|
|
[PubMed: 2320592]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.87.7.2843]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wong, V. G., McFarlin, D. E.
|
|
<strong>Primary familial amyloidosis.</strong>
|
|
Arch. Ophthal. 78: 208-213, 1967.
|
|
|
|
|
|
[PubMed: 4952599]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1967.00980030210015]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yamada, M., Tsukagoshi, H., Satoh, J., Ishiai, S., Nakazato, M., Furuya, H., Sasaki, H., Sakaki, Y., Yokota, T.
|
|
<strong>'Sporadic' prealbumin-related amyloid polyneuropathy: report of two cases.</strong>
|
|
J. Neurol. 235: 69-73, 1987.
|
|
|
|
|
|
[PubMed: 2828557]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00718012]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yamashita, T., Ueda, M., Nomura, T., Okazaki, T., Okada, M., Tsuda, Y., Inoue, Y., Masuda, T., Misumi, Y., Takamatsu, K., Obayashi, K., Inomata, Y., Hibi, T., Ando, Y.
|
|
<strong>Natural history and long-term effects of variant protein reduction in non-V30M ATTR amyloidosis.</strong>
|
|
Neurology 93: 714-716, 2019.
|
|
|
|
|
|
[PubMed: 31562191]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/WNL.0000000000008320]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yang, N. C.-C., Lee, M.-J., Chao, C.-C., Chuang, Y.-T., Lin, W.-M., Chang, M.-F., Hsieh, P.-C., Kan, H.-W., Lin, Y.-H., Yang, C.-C., Chiu, M.-J., Liou, H.-H., Hsieh, S.-T.
|
|
<strong>Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser.</strong>
|
|
Neurology 75: 532-538, 2010.
|
|
|
|
|
|
[PubMed: 20697105]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/WNL.0b013e3181ec7fda]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yi, S., Takahashi, K., Naito, M., Tashiro, F., Wakasugi, S., Maeda, S., Shimada, K., Yamamura, K., Araki, S.
|
|
<strong>Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (met30) gene: pathologic similarity to human familial amyloidotic polyneuropathy, type I.</strong>
|
|
Am. J. Path. 138: 403-412, 1991.
|
|
|
|
|
|
[PubMed: 1992765]
|
|
|
|
|
|
|
|
</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">
|
|
Ada Hamosh - updated : 02/13/2025<br>Hilary J. Vernon - updated : 01/25/2024<br>Sonja A. Rasmussen - updated : 07/10/2023<br>Ada Hamosh - updated : 07/23/2018<br>Ada Hamosh - updated : 10/15/2013<br>Cassandra L. Kniffin - updated : 10/22/2010<br>Cassandra L. Kniffin - updated : 8/30/2010<br>Cassandra L. Kniffin - updated : 8/16/2010<br>Anne M. Stumpf - reorganized : 2/18/2010<br>Cassandra L. Kniffin - updated : 1/2/2008<br>Cassandra L. Kniffin - reorganized : 8/8/2003<br>Cassandra L. Kniffin - updated : 8/6/2003
|
|
</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 : 6/4/1986
|
|
</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">
|
|
alopez : 02/13/2025<br>alopez : 05/20/2024<br>alopez : 05/20/2024<br>alopez : 05/20/2024<br>alopez : 05/20/2024<br>carol : 01/26/2024<br>carol : 01/25/2024<br>carol : 07/10/2023<br>alopez : 09/27/2021<br>carol : 08/01/2019<br>carol : 08/01/2019<br>alopez : 07/23/2018<br>carol : 08/05/2016<br>carol : 07/09/2016<br>carol : 6/23/2016<br>carol : 5/25/2016<br>alopez : 10/15/2013<br>terry : 4/10/2012<br>wwang : 11/2/2010<br>ckniffin : 10/22/2010<br>wwang : 9/10/2010<br>ckniffin : 8/30/2010<br>wwang : 8/25/2010<br>ckniffin : 8/16/2010<br>alopez : 2/19/2010<br>alopez : 2/18/2010<br>wwang : 1/22/2008<br>ckniffin : 1/2/2008<br>terry : 2/22/2005<br>carol : 8/8/2003<br>carol : 8/8/2003<br>ckniffin : 8/6/2003<br>ckniffin : 8/6/2003<br>mimadm : 3/11/1994<br>carol : 10/14/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 12/19/1988
|
|
</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>
|
|
|
|
|