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<meta name="keywords" content="C0752125, adca type 2, adca, type 2, adca, type ii, adca2, adcaii, ataxia 7, spinocerebellar, ataxia with pigmentary retinopathy, atrophy iii, olivopontocerebellar, atxn7, atxn7 autosomal dominant cerebellar ataxia type ii, autosomal dominant cerebellar ataxia type 2, autosomal dominant cerebellar ataxia type ii, autosomal dominant cerebellar ataxia type ii caused by mutation in atxn7, autosomal dominant cerebellar ataxia, type 2, cerebellar syndrome pigmentary maculopathy, cerebellar syndrome-pigmentary maculopathy syndrome, disease or syndrome, olivopontocerebellar atrophy 3, olivopontocerebellar atrophy iii, olivopontocerebellar atrophy iiis, opca 3, opca iii, opca with macular degeneration and external ophthalmoplegia, opca with retinal degeneration, opca3, sca7, spinocerebellar ataxia 7, spinocerebellar ataxia 7s, spinocerebellar ataxia type 7, spinocerebellar ataxia-7, type 7 spinocerebellar ataxia, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. Anticipation in this nucleotide repeat disorder may be so dramatic that within a family a child with infantile or early-childhood onset may be diagnosed with what is thought to be an unrelated neurodegenerative disorder years before a parent or grandparent with a CAG repeat expansion becomes symptomatic. In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia. In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies in these two age groups, the eventual result for almost all affected individuals is loss of vision, severe dysarthria and dysphagia, and a bedridden state with loss of motor control." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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||
UID=156006
|
||
ConceptID=C0752125
|
||
-->
|
||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1256/bin/sca7-Image001.gif" src-large="/books/NBK1256/bin/sca7-Image001.jpg" /></a><br /><a href="/books/NBK1256/figure/sca7.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Spinocerebellar ataxia 7<span class="h1sub">(SCA7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>156006</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0752125</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ADCA type 2; ADCA, TYPE II; Autosomal dominant cerebellar ataxia type 2; Autosomal dominant cerebellar ataxia type II; Olivopontocerebellar atrophy 3; OLIVOPONTOCEREBELLAR ATROPHY III; OPCA III; OPCA WITH MACULAR DEGENERATION AND EXTERNAL OPHTHALMOPLEGIA; OPCA WITH RETINAL DEGENERATION; SCA7</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Spinocerebellar ataxia type 7 (715726000); Ataxia with pigmentary retinopathy (715726000); Cerebellar syndrome pigmentary maculopathy (715726000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ATXN7 - ID: 6314 - NCBI Gene" href="/gene/6314" class="medgenPMinfo">ATXN7</a> (3p14.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016163" target="_blank">MONDO:0016163</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/164500" target="_blank">164500</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=208508">ORPHA208508</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. Anticipation in this nucleotide repeat disorder may be so dramatic that within a family a child with infantile or early-childhood onset may be diagnosed with what is thought to be an unrelated neurodegenerative disorder years before a parent or grandparent with a CAG repeat expansion becomes symptomatic. In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia. In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies in these two age groups, the eventual result for almost all affected individuals is loss of vision, severe dysarthria and dysphagia, and a bedridden state with loss of motor control. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).
|
||
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). <a target="_blank" href="http://www.omim.org/entry/164500">http://www.omim.org/entry/164500</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3420"><div><strong>Chorea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3420</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0008489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3420">Feature record</a> | <a href="/medgen?term=%22Chorea%22%5BClinical%20Features%5D%20OR%203420%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7753"><div><strong>Spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7753">Feature record</a> | <a href="/medgen?term=%22Spasticity%22%5BClinical%20Features%5D%20OR%207753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10435"><div><strong>Olivopontocerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10435</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028968</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10435">Feature record</a> | <a href="/medgen?term=%22Olivopontocerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%2010435%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19708"><div><strong>Babinski sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19708</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0034935</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19708">Feature record</a> | <a href="/medgen?term=%22Babinski%20sign%22%5BClinical%20Features%5D%20OR%2019708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57747"><div><strong>Orofacial dyskinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57747</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57747">Feature record</a> | <a href="/medgen?term=%22Orofacial%20dyskinesia%22%5BClinical%20Features%5D%20OR%2057747%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115941"><div><strong>Abnormality of extrapyramidal motor function</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115941</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115941">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20extrapyramidal%20motor%20function%22%5BClinical%20Features%5D%20OR%20115941%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140727"><div><strong>Progressive cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140727</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0393525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140727">Feature record</a> | <a href="/medgen?term=%22Progressive%20cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20140727%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7434"><div><strong>Macular degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7434</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0024437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7434">Feature record</a> | <a href="/medgen?term=%22Macular%20degeneration%22%5BClinical%20Features%5D%20OR%207434%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18180"><div><strong>Optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18180</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0029124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18180">Feature record</a> | <a href="/medgen?term=%22Optic%20atrophy%22%5BClinical%20Features%5D%20OR%2018180%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_232942"><div><strong>Slow saccadic eye movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>232942</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1321329</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally slow velocity of the saccadic eye movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/232942">Feature record</a> | <a href="/medgen?term=%22Slow%20saccadic%20eye%20movements%22%5BClinical%20Features%5D%20OR%20232942%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_235616"><div><strong>Supranuclear ophthalmoplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235616</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1408507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A vertical gaze palsy with inability to direct the gaze of the eyes downwards.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235616">Feature record</a> | <a href="/medgen?term=%22Supranuclear%20ophthalmoplegia%22%5BClinical%20Features%5D%20OR%20235616%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326867"><div><strong>Progressive visual loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326867</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839364</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction of previously attained ability to see.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326867">Feature record</a> | <a href="/medgen?term=%22Progressive%20visual%20loss%22%5BClinical%20Features%5D%20OR%20326867%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1643295"><div><strong>Pigmentary retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643295</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643295">Feature record</a> | <a href="/medgen?term=%22Pigmentary%20retinopathy%22%5BClinical%20Features%5D%20OR%201643295%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular degeneration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1643295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmentary retinopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive visual loss</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_232942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Slow saccadic eye movements</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_235616" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supranuclear ophthalmoplegia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of extrapyramidal motor function</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Babinski sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmetria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Olivopontocerebellar atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57747" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofacial dyskinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spasticity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0752125[DISCUI]&test_type=Clinical" ref="ncbi_uid=156006">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=156006" target="_blank" href="/omim/164500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1138%20OR%20NBK1256)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=156006">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=156006" ref="ncbi_uid=156006">V</a></span></span><span class="TLline">Spinocerebellar ataxia 7</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/1789040" ref="tree=MeSH" title="MedGen record for Repeat Expansion Disease">Repeat Expansion Disease</a></span><ul><li><span class="matched_ds">Spinocerebellar ataxia 7</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=12567&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Spinocerebellar ataxia 7</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22666787">Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teive HA,
|
||
Munhoz RP,
|
||
Arruda WO,
|
||
Lopes-Cendes I,
|
||
Raskin S,
|
||
Werneck LC,
|
||
Ashizawa T</span><br />
|
||
<span class="medgenPMjournal">Clinics (Sao Paulo)</span>
|
||
2012;67(5):443-9.
|
||
doi: 10.6061/clinics/2012(05)07.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22666787" target="_blank">22666787</a><a href="/pmc/articles/PMC3351252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spinocerebellar%20ataxia%207%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29427104">Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karam A,
|
||
Trottier Y</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2018;1049:197-218.
|
||
doi: 10.1007/978-3-319-71779-1_9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29427104" target="_blank">29427104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25900954">Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faruq M,
|
||
Srivastava AK,
|
||
Singh S,
|
||
Gupta R,
|
||
Dada T,
|
||
Garg A,
|
||
Behari M,
|
||
Mukerji M</span><br />
|
||
<span class="medgenPMjournal">Indian J Med Res</span>
|
||
2015 Feb;141(2):187-98.
|
||
doi: 10.4103/0971-5916.155556.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25900954" target="_blank">25900954</a><a href="/pmc/articles/PMC4418155" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22666787">Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teive HA,
|
||
Munhoz RP,
|
||
Arruda WO,
|
||
Lopes-Cendes I,
|
||
Raskin S,
|
||
Werneck LC,
|
||
Ashizawa T</span><br />
|
||
<span class="medgenPMjournal">Clinics (Sao Paulo)</span>
|
||
2012;67(5):443-9.
|
||
doi: 10.6061/clinics/2012(05)07.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22666787" target="_blank">22666787</a><a href="/pmc/articles/PMC3351252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10602364">Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stevanin G,
|
||
David G,
|
||
Dürr A,
|
||
Giunti P,
|
||
Benomar A,
|
||
Abada-Bendib M,
|
||
Lee MS,
|
||
Agid Y,
|
||
Brice A</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
1999 Dec;7(8):889-96.
|
||
doi: 10.1038/sj.ejhg.5200392.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10602364" target="_blank">10602364</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9467013">Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gouw LG,
|
||
Castañeda MA,
|
||
McKenna CK,
|
||
Digre KB,
|
||
Pulst SM,
|
||
Perlman S,
|
||
Lee MS,
|
||
Gomez C,
|
||
Fischbeck K,
|
||
Gagnon D,
|
||
Storey E,
|
||
Bird T,
|
||
Jeri FR,
|
||
Ptácek LJ</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1998 Mar;7(3):525-32.
|
||
doi: 10.1093/hmg/7.3.525.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9467013" target="_blank">9467013</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%207%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33689625">Presumed spinocerebellar ataxia 7: challenges without molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li H,
|
||
Yanoga F,
|
||
Abdel-Rahman MH,
|
||
Cebulla CM</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Optom</span>
|
||
2021 May;104(4):547-549.
|
||
Epub 2021 Feb 25
|
||
doi: 10.1080/08164622.2021.1878822.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33689625" target="_blank">33689625</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32138195">Altered Plasma Acylcarnitines and Amino Acids Profile in Spinocerebellar Ataxia Type 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nambo-Venegas R,
|
||
Valdez-Vargas C,
|
||
Cisneros B,
|
||
Palacios-González B,
|
||
Vela-Amieva M,
|
||
Ibarra-González I,
|
||
Cerecedo-Zapata CM,
|
||
Martínez-Cruz E,
|
||
Cortés H,
|
||
Reyes-Grajeda JP,
|
||
Magaña JJ</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2020 Mar 3;10(3)
|
||
doi: 10.3390/biom10030390.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32138195" target="_blank">32138195</a><a href="/pmc/articles/PMC7175318" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27338628">The Long Non-Coding RNAs in Neurodegenerative Diseases: Novel Mechanisms of Pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riva P,
|
||
Ratti A,
|
||
Venturin M</span><br />
|
||
<span class="medgenPMjournal">Curr Alzheimer Res</span>
|
||
2016;13(11):1219-1231.
|
||
doi: 10.2174/1567205013666160622112234.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27338628" target="_blank">27338628</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19726937">Ophthalmic features of spinocerebellar ataxia type 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manrique RK,
|
||
Noval S,
|
||
Aguilar-Amat MJ,
|
||
Arpa J,
|
||
Rosa I,
|
||
Contreras I</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2009 Sep;29(3):174-9.
|
||
doi: 10.1097/WNO.0b013e3181b2828e.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19726937" target="_blank">19726937</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15377695">Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bang OY,
|
||
Lee PH,
|
||
Kim SY,
|
||
Kim HJ,
|
||
Huh K</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2004 Oct;75(10):1452-6.
|
||
doi: 10.1136/jnnp.2003.029819.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15377695" target="_blank">15377695</a><a href="/pmc/articles/PMC1738756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%207%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39128808">The role of interferon beta in neurological diseases and its potential therapeutic relevance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farhangian M,
|
||
Azarafrouz F,
|
||
Valian N,
|
||
Dargahi L</span><br />
|
||
<span class="medgenPMjournal">Eur J Pharmacol</span>
|
||
2024 Oct 15;981:176882.
|
||
Epub 2024 Aug 10
|
||
doi: 10.1016/j.ejphar.2024.176882.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39128808" target="_blank">39128808</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32138195">Altered Plasma Acylcarnitines and Amino Acids Profile in Spinocerebellar Ataxia Type 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nambo-Venegas R,
|
||
Valdez-Vargas C,
|
||
Cisneros B,
|
||
Palacios-González B,
|
||
Vela-Amieva M,
|
||
Ibarra-González I,
|
||
Cerecedo-Zapata CM,
|
||
Martínez-Cruz E,
|
||
Cortés H,
|
||
Reyes-Grajeda JP,
|
||
Magaña JJ</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2020 Mar 3;10(3)
|
||
doi: 10.3390/biom10030390.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32138195" target="_blank">32138195</a><a href="/pmc/articles/PMC7175318" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23518714">Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chort A,
|
||
Alves S,
|
||
Marinello M,
|
||
Dufresnois B,
|
||
Dornbierer JG,
|
||
Tesson C,
|
||
Latouche M,
|
||
Baker DP,
|
||
Barkats M,
|
||
El Hachimi KH,
|
||
Ruberg M,
|
||
Janer A,
|
||
Stevanin G,
|
||
Brice A,
|
||
Sittler A</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2013 Jun;136(Pt 6):1732-45.
|
||
Epub 2013 Mar 21
|
||
doi: 10.1093/brain/awt061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23518714" target="_blank">23518714</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9736784">De novo expansion of intermediate alleles in spinocerebellar ataxia 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stevanin G,
|
||
Giunti P,
|
||
Belal GD,
|
||
Dürr A,
|
||
Ruberg M,
|
||
Wood N,
|
||
Brice A</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1998 Oct;7(11):1809-13.
|
||
doi: 10.1093/hmg/7.11.1809.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9736784" target="_blank">9736784</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%207%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32138195">Altered Plasma Acylcarnitines and Amino Acids Profile in Spinocerebellar Ataxia Type 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nambo-Venegas R,
|
||
Valdez-Vargas C,
|
||
Cisneros B,
|
||
Palacios-González B,
|
||
Vela-Amieva M,
|
||
Ibarra-González I,
|
||
Cerecedo-Zapata CM,
|
||
Martínez-Cruz E,
|
||
Cortés H,
|
||
Reyes-Grajeda JP,
|
||
Magaña JJ</span><br />
|
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<span class="medgenPMjournal">Biomolecules</span>
|
||
2020 Mar 3;10(3)
|
||
doi: 10.3390/biom10030390.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32138195" target="_blank">32138195</a><a href="/pmc/articles/PMC7175318" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23418007">Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun Y,
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Almomani R,
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Breedveld GJ,
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Santen GW,
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Aten E,
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Lefeber DJ,
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Hoff JI,
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Brusse E,
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Verheijen FW,
|
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Verdijk RM,
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Kriek M,
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Oostra B,
|
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Breuning MH,
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Losekoot M,
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den Dunnen JT,
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van de Warrenburg BP,
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Maat-Kievit AJ</span><br />
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2013 May;34(5):706-13.
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/23418007" target="_blank">23418007</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12003621">Ocular findings in spinocerebellar ataxia 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McLaughlin ME,
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Dryja TP</span><br />
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<span class="medgenPMjournal">Arch Ophthalmol</span>
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2002 May;120(5):655-9.
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<span class="bold">PMID: </span><a href="/pubmed/12003621" target="_blank">12003621</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/9467013">Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Gouw LG,
|
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Castañeda MA,
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McKenna CK,
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Digre KB,
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Pulst SM,
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Perlman S,
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Lee MS,
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Gomez C,
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Fischbeck K,
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Gagnon D,
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Storey E,
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Bird T,
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1998 Mar;7(3):525-32.
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<span class="bold">PMID: </span><a href="/pubmed/9467013" target="_blank">9467013</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8940279">The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">David G,
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Giunti P,
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Abbas N,
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Coullin P,
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Stevanin G,
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Horta W,
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Gemmill R,
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Weissenbach J,
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Cunha S,
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<span class="bold">PMID: </span><a href="/pubmed/8940279" target="_blank">8940279</a><a href="/pmc/articles/PMC1914853" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%207%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32138195">Altered Plasma Acylcarnitines and Amino Acids Profile in Spinocerebellar Ataxia Type 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nambo-Venegas R,
|
||
Valdez-Vargas C,
|
||
Cisneros B,
|
||
Palacios-González B,
|
||
Vela-Amieva M,
|
||
Ibarra-González I,
|
||
Cerecedo-Zapata CM,
|
||
Martínez-Cruz E,
|
||
Cortés H,
|
||
Reyes-Grajeda JP,
|
||
Magaña JJ</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2020 Mar 3;10(3)
|
||
doi: 10.3390/biom10030390.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32138195" target="_blank">32138195</a><a href="/pmc/articles/PMC7175318" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30625334">Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lebon C,
|
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Behar-Cohen F,
|
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Torriglia A</span><br />
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<span class="medgenPMjournal">Neuroscience</span>
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2019 Feb 21;400:72-84.
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||
Epub 2019 Jan 6
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doi: 10.1016/j.neuroscience.2018.12.051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30625334" target="_blank">30625334</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29427104">Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Karam A,
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Trottier Y</span><br />
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<span class="medgenPMjournal">Adv Exp Med Biol</span>
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2018;1049:197-218.
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doi: 10.1007/978-3-319-71779-1_9.
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<span class="bold">PMID: </span><a href="/pubmed/29427104" target="_blank">29427104</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25900954">Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faruq M,
|
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Srivastava AK,
|
||
Singh S,
|
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Gupta R,
|
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Dada T,
|
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Garg A,
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Behari M,
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Mukerji M</span><br />
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<span class="medgenPMjournal">Indian J Med Res</span>
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2015 Feb;141(2):187-98.
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doi: 10.4103/0971-5916.155556.
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<span class="bold">PMID: </span><a href="/pubmed/25900954" target="_blank">25900954</a><a href="/pmc/articles/PMC4418155" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9288099">Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">David G,
|
||
Abbas N,
|
||
Stevanin G,
|
||
Dürr A,
|
||
Yvert G,
|
||
Cancel G,
|
||
Weber C,
|
||
Imbert G,
|
||
Saudou F,
|
||
Antoniou E,
|
||
Drabkin H,
|
||
Gemmill R,
|
||
Giunti P,
|
||
Benomar A,
|
||
Wood N,
|
||
Ruberg M,
|
||
Agid Y,
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||
Mandel JL,
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Brice A</span><br />
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<span class="medgenPMjournal">Nat Genet</span>
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1997 Sep;17(1):65-70.
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|
||
<span class="bold">PMID: </span><a href="/pubmed/9288099" target="_blank">9288099</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%207%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/31059981">Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen ZR,
|
||
Liu DT,
|
||
Meng H,
|
||
Liu L,
|
||
Bian WJ,
|
||
Liu XR,
|
||
Zhu WW,
|
||
He Y,
|
||
Wang J,
|
||
Tang B,
|
||
Su T,
|
||
Yi YH</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2019 Jul;69:180-185.
|
||
Epub 2018 Sep 2
|
||
doi: 10.1016/j.seizure.2018.08.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31059981" target="_blank">31059981</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinocerebellar%20ataxia%207%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
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|
||
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|
||
|
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0752125%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C0752125%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0752125%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0752125%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0752125%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C0752125%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (32)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0752125%5bDISCUI%5d" target="_blank">See all (54)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=164500" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=208508" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Spinocerebellar%20ataxia%207" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spinocerebellar%20ataxia%207%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Spinocerebellar%20ataxia%207%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
||
<div class="portlet mgSection" id="ID_115">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=607640" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6314[geneid]" target="_blank">View ATXN7 variations in ClinVar</a></li><li><a href="/nuccore/194272177" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=164500" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
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||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Spinocerebellar+ataxia+7/6768" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/spinocerebellar_ataxia_7" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Spinocerebellar%20ataxia%207" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/20405/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
||
<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
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<ul>
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||
<li>
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<a href="/pubmed/20301433" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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<a href="/pubmed/20301317" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=4" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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<li>
|
||
<a href="/pubmed/clinical?term=Spinocerebellar%20ataxia%207" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=4" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
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<li>
|
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<a href="/pubmed?term=Spinocerebellar%20ataxia%207%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=4&linkpostotal=4" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
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||
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|
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<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
|
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=156006" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=156006" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=156006" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc4f0ef4a390645efc4747">Spinocerebellar ataxia 7</a>
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<div class="ralinkpop offscreen_noflow">Spinocerebellar ataxia 7<div class="brieflinkpopdesc"></div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc4f0ca68b6b5afc2c7700">C5676950[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(23)</span></a>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc4f0c84f3725e59f4dfbf">C0752125[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc4f0bf4a390645efc366b">Spinocerebellar ataxia 49</a>
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<div class="ralinkpop offscreen_noflow">Spinocerebellar ataxia 49<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc4f08a68b6b5afc2c6a3c">C5676950[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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