6440 lines
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Entry
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- #164500 - SPINOCEREBELLAR ATAXIA 7; SCA7
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- OMIM
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<p>
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<span class="h4">#164500</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/164500"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS164400"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</div>
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<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">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=SPINOCEREBELLAR ATAXIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12567&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Hereditary Ataxia Overview</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1256/" title="Spinocerebellar Ataxia Type 7" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Spinocerebellar Ataxia Typ…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/6768" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=164500[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>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94147" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/c3e35586-b5af-40f9-82a7-fc0ba2fe1cf5/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050958" 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>
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<div><a href="http://www.informatics.jax.org/disease/164500" 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>
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<div><a href="https://omia.org/OMIA000740/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:164500" 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>
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</div>
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</div>
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</div>
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<span>
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<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.">
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</span>
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</span>
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</div>
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<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">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1156796002, 715726000<br />
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<strong>ORPHA:</strong> 94147<br />
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<strong>DO:</strong> 0050958<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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164500
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SPINOCEREBELLAR ATAXIA 7; SCA7
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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OLIVOPONTOCEREBELLAR ATROPHY III; OPCA3<br />
|
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OPCA III<br />
|
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OPCA WITH RETINAL DEGENERATION<br />
|
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OPCA WITH MACULAR DEGENERATION AND EXTERNAL OPHTHALMOPLEGIA<br />
|
|
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, TYPE II<br />
|
|
ADCA, TYPE II
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
|
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<th>
|
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Phenotype
|
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/3/436?start=-3&limit=10&highlight=436">
|
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3p14.1
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Spinocerebellar ataxia 7
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/164500"> 164500 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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ATXN7
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607640"> 607640 </a>
|
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</span>
|
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</td>
|
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</tr>
|
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/164500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS164400" 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/164500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/164500" 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>
|
|
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|
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|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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<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">
|
|
|
|
- Macular degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422338006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422338006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267718000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267718000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242383</a>, <a href="https://bioportal.bioontology.org/search?q=C0024437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000608</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000608</a>]</span><br /> -
|
|
Pigmentary retinal degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833999</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000580</a>]</span><br /> -
|
|
Vision loss, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839364&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839364</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <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">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H54.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H54.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/369.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">369.9</a>]</span><br /> -
|
|
Slow saccades <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404686001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404686001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1321329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1321329</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000514</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000514</a>]</span><br /> -
|
|
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
|
|
Supranuclear ophthalmoplegia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1408507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1408507</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000623</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000623" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000623</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Progressive cerebellar ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230233000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230233000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0393525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002073</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002073</a>]</span><br /> -
|
|
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 /> -
|
|
Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br /> -
|
|
Pyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14648003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14648003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span><br /> -
|
|
Extrapyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43378000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43378000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span><br /> -
|
|
Chorea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271700006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271700006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008489</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002072</a>]</span><br /> -
|
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Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
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Extensor plantar responses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246586009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246586009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366575004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366575004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span><br /> -
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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 /> -
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Orofacial dyskinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49386006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49386006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152115&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152115</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002310</a>]</span><br /> -
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Cognitive dysfunction (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span><br /> -
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Dysmetria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32566006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32566006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234162</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span><br /> -
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Olivopontocerebellar degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/67761004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">67761004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028968&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028968</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002542" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002542</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002542" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002542</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
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- Mean age at onset 32 years<br /> -
|
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Genetic anticipation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003743</a>]</span><br /> -
|
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Paternal anticipation bias <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003744</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutations in the ataxin 7 gene (SCA7, <a href="/entry/607640#0001">607640.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
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Spinocerebellar ataxia
|
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- <a href="/phenotypicSeries/PS164400">PS164400</a>
|
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- 49 Entries
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</h5>
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</div>
|
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
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<thead>
|
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<tr>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Location</strong>
|
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</th>
|
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />mapping key</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />MIM number</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
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|
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<a href="/geneMap/1/49?start=-3&limit=10&highlight=49"> 1p36.33 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/607454"> Spinocerebellar ataxia 21 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/607454"> 607454 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/616101"> TMEM240 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/616101"> 616101 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
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|
|
<a href="/geneMap/1/378?start=-3&limit=10&highlight=378"> 1p35.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617931"> Spinocerebellar ataxia 47 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617931"> 617931 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607204"> PUM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607204"> 607204 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/653?start=-3&limit=10&highlight=653"> 1p32.2-p32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615945"> Spinocerebellar ataxia 37 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615945"> 615945 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603448"> DAB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603448"> 603448 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/919?start=-3&limit=10&highlight=919"> 1p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607346"> Spinocerebellar ataxia 19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607346"> 607346 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605411"> KCND3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605411"> 605411 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/269?start=-3&limit=10&highlight=269"> 2p16.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608703"> Spinocerebellar ataxia 25 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608703"> 608703 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610316"> PNPT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610316"> 610316 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/17?start=-3&limit=10&highlight=17"> 3p26.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606658"> Spinocerebellar ataxia 15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606658"> 606658 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147265"> ITPR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147265"> 147265 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/17?start=-3&limit=10&highlight=17"> 3p26.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/117360"> Spinocerebellar ataxia 29, congenital nonprogressive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/117360"> 117360 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147265"> ITPR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147265"> 147265 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/436?start=-3&limit=10&highlight=436"> 3p14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164500"> Spinocerebellar ataxia 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164500"> 164500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607640"> ATXN7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607640"> 607640 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/798?start=-3&limit=10&highlight=798"> 3q25.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617018"> ?Spinocerebellar ataxia 43 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617018"> 617018 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120520"> MME </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120520"> 120520 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/531?start=-3&limit=10&highlight=531"> 4q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616410"> ?Spinocerebellar ataxia 41 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616410"> 616410 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602345"> TRPC3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602345"> 602345 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/691?start=-3&limit=10&highlight=691"> 4q34.3-q35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613371"> ?Spinocerebellar ataxia 30 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613371"> 613371 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613371"> SCA30 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613371"> 613371 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/633?start=-3&limit=10&highlight=633"> 5q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604326"> Spinocerebellar ataxia 12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604326"> 604326 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604325"> PPP2R2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604325"> 604325 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/687?start=-3&limit=10&highlight=687"> 5q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617769"> Spinocerebellar ataxia 45 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617769"> 617769 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604269"> FAT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604269"> 604269 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/90?start=-3&limit=10&highlight=90"> 6p22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164400"> Spinocerebellar ataxia 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164400"> 164400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601556"> ATXN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601556"> 601556 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/600?start=-3&limit=10&highlight=600"> 6p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615957"> Spinocerebellar ataxia 38 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615957"> 615957 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611805"> ELOVL5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611805"> 611805 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/667?start=-3&limit=10&highlight=667"> 6q14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133190"> Spinocerebellar ataxia 34 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133190"> 133190 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605512"> ELOVL4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605512"> 605512 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/928?start=-3&limit=10&highlight=928"> 6q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617691"> Spinocerebellar ataxia 44 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617691"> 617691 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604473"> GRM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604473"> 604473 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/1041?start=-3&limit=10&highlight=1041"> 6q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607136"> Spinocerebellar ataxia 17 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607136"> 607136 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600075"> TBP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600075"> 600075 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/414?start=-3&limit=10&highlight=414"> 7q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619806"> ?Spinocerebellar ataxia 49 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619806"> 619806 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611170"> SAMD9L </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611170"> 611170 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/454?start=-3&limit=10&highlight=454"> 7q22-q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607458"> Spinocerebellar ataxia 18 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607458"> 607458 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607458"> SCA18 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607458"> 607458 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/642?start=-3&limit=10&highlight=642"> 7q32-q33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613909"> Spinocerebellar ataxia 32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613909"> 613909 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613909"> SCA32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613909"> 613909 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/380?start=-3&limit=10&highlight=380"> 11q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608687"> Spinocerebellar ataxia 20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608687"> 608687 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608687"> SCA20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608687"> 608687 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/646?start=-3&limit=10&highlight=646"> 11q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600224"> Spinocerebellar ataxia 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600224"> 600224 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604985"> SPTBN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604985"> 604985 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/813?start=-3&limit=10&highlight=813"> 12q24.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> Spinocerebellar ataxia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> 183090 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> ATXN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> 601517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/813?start=-3&limit=10&highlight=813"> 12q24.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> {Amyotrophic lateral sclerosis, susceptibility to, 13} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> 183090 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> ATXN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> 601517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/204?start=-3&limit=10&highlight=204"> 13q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608768"> Spinocerebellar ataxia 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608768"> 608768 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613289"> ATXN8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613289"> 613289 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/213?start=-3&limit=10&highlight=213"> 13q21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608768"> Spinocerebellar ataxia 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608768"> 608768 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603680"> ATXN8OS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603680"> 603680 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/293?start=-3&limit=10&highlight=293"> 13q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193003"> Spinocerebellar ataxia 27A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193003"> 193003 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601515"> FGF14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601515"> 601515 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/293?start=-3&limit=10&highlight=293"> 13q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620174"> Spinocerebellar ataxia 27B, late-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620174"> 620174 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601515"> FGF14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601515"> 601515 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/460?start=-3&limit=10&highlight=460"> 14q32.11-q32.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616053"> ?Spinocerebellar ataxia 40 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616053"> 616053 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611204"> CCDC88C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611204"> 611204 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/466?start=-3&limit=10&highlight=466"> 14q32.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/109150"> Machado-Joseph disease </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/109150"> 109150 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607047"> ATXN3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607047"> 607047 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/139?start=-3&limit=10&highlight=139"> 15q15.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604432"> Spinocerebellar ataxia 11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604432"> 604432 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611695"> TTBK2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611695"> 611695 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/37?start=-3&limit=10&highlight=37"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618093"> Spinocerebellar ataxia 48 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618093"> 618093 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607207"> STUB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607207"> 607207 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/510?start=-3&limit=10&highlight=510"> 16q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/117210"> Spinocerebellar ataxia 31 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/117210"> 117210 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612051"> BEAN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612051"> 612051 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/561?start=-3&limit=10&highlight=561"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620947"> Spinocerebellar ataxia 51 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620947"> 620947 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609119"> THAP11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609119"> 609119 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/630?start=-3&limit=10&highlight=630"> 16q22.2-q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600223"> Spinocerebellar ataxia 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600223"> 600223 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104155"> ZFHX3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104155"> 104155 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/747?start=-3&limit=10&highlight=747"> 17q21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616795"> Spinocerebellar ataxia 42 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616795"> 616795 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604065"> CACNA1G </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604065"> 604065 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/1021?start=-3&limit=10&highlight=1021"> 17q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620158"> Spinocerebellar ataxia 50 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620158"> 620158 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602367"> NPTX1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602367"> 602367 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/63?start=-3&limit=10&highlight=63"> 18p11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610246"> Spinocerebellar ataxia 28 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610246"> 610246 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604581"> AFG3L2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604581"> 604581 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/123?start=-3&limit=10&highlight=123"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609306"> ?Spinocerebellar ataxia 26 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609306"> 609306 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130610"> EEF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130610"> 130610 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/355?start=-3&limit=10&highlight=355"> 19p13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183086"> Spinocerebellar ataxia 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
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<a href="/entry/617770"> ?Spinocerebellar ataxia 46 </a>
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<a href="/entry/605361"> Spinocerebellar ataxia 14 </a>
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<a href="/entry/613900"> TGM6 </a>
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<a href="/entry/613900"> 613900 </a>
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<a href="/entry/614153"> Spinocerebellar ataxia 36 </a>
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<span class="mim-font">
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<a href="/entry/614153"> 614153 </a>
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<a href="/entry/614154"> NOP56 </a>
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<a href="/entry/614154"> 614154 </a>
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<a href="/entry/603516"> Spinocerebellar ataxia 10 </a>
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<a href="/entry/603516"> 603516 </a>
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<a href="/entry/611150"> ATXN10 </a>
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<a href="/entry/611150"> 611150 </a>
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<a href="/entry/612876"> Spinocerebellar ataxia 9 </a>
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<a href="/entry/612876"> 612876 </a>
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<a href="/entry/612876"> SCA9 </a>
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<a href="/entry/612876"> 612876 </a>
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<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.">
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<p>A number sign (#) is used with this entry because spinocerebellar ataxia-7 (SCA7) is caused by a heterozygous expanded trinucleotide repeat in the gene encoding ataxin-7 (ATXN7; <a href="/entry/607640">607640</a>) on chromosome 3p14.</p>
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<p>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, <a href="#27" class="mim-tip-reference" title="Harding, A. E. <strong>The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of 'the Drew family of Walworth.'.</strong> Brain 105: 1-28, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7066668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7066668</a>] [<a href="https://doi.org/10.1093/brain/105.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7066668">Harding (1982)</a> 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 (<a href="#6" class="mim-tip-reference" title="Benomar, A., Le Guern, E., Durr, A., Ouhabi, H., Stevanin, G., Yahyaoui, M., Chkili, T., Agid, Y., Brice, A. <strong>Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.</strong> Ann. Neurol. 35: 439-444, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8154871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8154871</a>] [<a href="https://doi.org/10.1002/ana.410350411" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8154871">Benomar et al., 1994</a>; summary by <a href="#15" class="mim-tip-reference" title="David, G., Giunti, P., Abbas, N., Coullin, P., Stevanin, G., Horta, W., Gemmill, R., Weissenbach, J., Wood, N., Cunha, S., Drabkin, H., Harding, A. E., Agid, Y., Brice, A. <strong>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.</strong> Am. J. Hum. Genet. 59: 1328-1336, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940279</a>]" pmid="8940279">David et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8154871+7066668+8940279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (<a href="/entry/164400">164400</a>).</p>
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<p><a href="#19" class="mim-tip-reference" title="Froment, J., Bonnet, P., Colrat, A. <strong>Heredo-degenerations retinienne et spino-cerebelleuse: variantes ophtalmoscopiques et neurologiques presentees par trois generations successives.</strong> J. Med. Lyon 153-163, 1937."None>Froment et al. (1937)</a> described a neurologic lesion, which they referred to as spinocerebellar degeneration, in association with retinal degeneration, in 4 affected persons in 3 successive generations. The character of the retinopathy was variable, being peripheral in the first generation, macular in the second, and macular and circumpapillary in the third. Retinal degeneration with cerebellar ataxia in a dominant pedigree pattern was also reported by <a href="#7" class="mim-tip-reference" title="Bjork, A., Lindblom, U., Wadensten, L. <strong>Retinal degeneration in hereditary ataxia.</strong> J. Neurol. Neurosurg. Psychiat. 19: 186-193, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13357958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13357958</a>] [<a href="https://doi.org/10.1136/jnnp.19.3.186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13357958">Bjork et al. (1956)</a>. <a href="#28" class="mim-tip-reference" title="Havener, W. H. <strong>Cerebellar-macular abiotrophy.</strong> Arch. Ophthal. 45: 40-43, 1951."None>Havener (1951)</a> described macular degeneration with cerebellar ataxia in a 28-year-old black. Cerebellar involvement was much less severe than in a daughter who died at 3 years of age with profound involvement. <a href="#31" class="mim-tip-reference" title="Jampel, R. S., Okazaki, H., Bernstein, H. <strong>Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia.</strong> Arch. Ophthal. 66: 247-259, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13789353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13789353</a>] [<a href="https://doi.org/10.1001/archopht.1961.00960010249017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13789353">Jampel et al. (1961)</a> reported spinocerebellar ataxia with external ophthalmoplegia and retinal degeneration in 8 members of a black family (in 4 sibships of 3 generations). Ophthalmoplegia was progressive and appeared to have a supranuclear basis. Ptosis never occurred. Retinal degeneration began in the macular area and progressed to the periphery. Reports of the same syndrome were found in the literature, e.g., <a href="#2" class="mim-tip-reference" title="Alfano, J. E., Berger, J. P. <strong>Retinitis pigmentosa, ophthalmoplegia, and spastic quadriplegia.</strong> Am. J. Ophthal. 43: 231-240, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13394671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13394671</a>] [<a href="https://doi.org/10.1016/0002-9394(57)92915-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13394671">Alfano and Berger (1957)</a>. In other reports only external ophthalmoplegia or only retinal degeneration was associated with ataxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13789353+13394671+13357958" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Foster, J. B., Ingram, T. T. S. <strong>Familial cerebro-macular degeneration and ataxia.</strong> J. Neurol. Neurosurg. Psychiat. 25: 63-68, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13894235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13894235</a>] [<a href="https://doi.org/10.1136/jnnp.25.1.63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13894235">Foster and Ingram (1962)</a> described a family with at least 7 affected members of 3 generations. Severity varied widely with infant death in at least 1 case and survival to middle age in other affected persons. <a href="#48" class="mim-tip-reference" title="Weiner, L. P., Konigsmark, B. W., Stoll, J., Jr., Magladery, J. W. <strong>Hereditary olivopontocerebellar atrophy with retinal degeneration: report of a family through six generations.</strong> Arch. Neurol. 16: 364-376, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6021917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6021917</a>] [<a href="https://doi.org/10.1001/archneur.1967.00470220028004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6021917">Weiner et al. (1967)</a> found 27 affected persons in 5 generations of a black family. The proband had a 'peculiar glistening pale area sprinkled with fine pigment granules in the macular region' of each eye. Blurred vision and a periodic slight head tremor were first noted at age 22. <a href="#48" class="mim-tip-reference" title="Weiner, L. P., Konigsmark, B. W., Stoll, J., Jr., Magladery, J. W. <strong>Hereditary olivopontocerebellar atrophy with retinal degeneration: report of a family through six generations.</strong> Arch. Neurol. 16: 364-376, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6021917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6021917</a>] [<a href="https://doi.org/10.1001/archneur.1967.00470220028004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6021917">Weiner et al. (1967)</a> suggested that the families of <a href="#49" class="mim-tip-reference" title="Woodworth, J. A., Beckett, R. S., Netsky, M. G. <strong>A composite of hereditary ataxias: a familial disorder with features of olivopontocerebellar atrophy, Leber's optic atrophy and Friedreich's ataxia.</strong> Arch. Intern. Med. 104: 594-606, 1959."None>Woodworth et al. (1959)</a> and of <a href="#10" class="mim-tip-reference" title="Carpenter, S., Schumacher, G. A. <strong>Familial infantile cerebellar atrophy associated with retinal degeneration.</strong> Arch. Neurol. 14: 82-94, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5900234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5900234</a>] [<a href="https://doi.org/10.1001/archneur.1966.00470070086010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5900234">Carpenter and Schumacher (1966)</a> may have suffered from the same entity. <a href="#26" class="mim-tip-reference" title="Halsey, J. H., Jr., Scott, T. R., Farmer, T. W. <strong>Adult hereditary cerebelloretinal degeneration.</strong> Neurology 17: 87-90, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6066676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6066676</a>] [<a href="https://doi.org/10.1212/wnl.17.1.87" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6066676">Halsey et al. (1967)</a> found degenerative changes in the retina and cerebellum of 11 persons in 3 generations of a North Carolina black family. Blindness and ataxia were the clinical features. Fundus changes were mainly macular. Onset was usually in middle age although 3 had onset in adolescence. Consanguinity and skipped generations suggest recessive inheritance. However, a high illegitimacy rate in this population could explain the pedigree pattern by accounting for apparently 'skipped' generations with a dominant trait. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5900234+6021917+13894235+6066676" 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 Finland, <a href="#4" class="mim-tip-reference" title="Anttinen, A., Nikoskelainen, E., Marttila, R. J., Grenman, R., Falck, B., Aarnisalo, E., Kalimo, H. <strong>Familial olivopontocerebellar atrophy with macular degeneration: a separate entity among the olivopontocerebellar atrophies.</strong> Acta Neurol. Scand. 73: 180-190, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3705927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3705927</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1986.tb03261.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3705927">Anttinen et al. (1986)</a> observed a family with 9 affected persons. The first symptom was insidious, progressive visual loss caused by macular degeneration. Another early sign was slow saccades (<a href="#47" class="mim-tip-reference" title="Wadia, N. H., Swami, R. K. <strong>A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families).</strong> Brain 94: 359-374, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5571047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5571047</a>] [<a href="https://doi.org/10.1093/brain/94.2.359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5571047">Wadia and Swami, 1971</a>). Gradually progressing cerebellar dysfunction and pyramidal signs developed some years after the visual symptoms. Cerebellar and pontine atrophy was demonstrated by computerized tomography (CT scan). <a href="#4" class="mim-tip-reference" title="Anttinen, A., Nikoskelainen, E., Marttila, R. J., Grenman, R., Falck, B., Aarnisalo, E., Kalimo, H. <strong>Familial olivopontocerebellar atrophy with macular degeneration: a separate entity among the olivopontocerebellar atrophies.</strong> Acta Neurol. Scand. 73: 180-190, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3705927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3705927</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1986.tb03261.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3705927">Anttinen et al. (1986)</a> found reports of 20 similar families with 120 affected persons, including families reported by <a href="#16" class="mim-tip-reference" title="Duinkerke-Eerola, K. U., Cruysberg, J. R. M., Deutman, A. F. <strong>Atrophic maculopathy associated with hereditary ataxia.</strong> Am. J. Ophthal. 90: 597-603, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7446640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7446640</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)75125-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7446640">Duinkerke-Eerola et al. (1980)</a> and by <a href="#27" class="mim-tip-reference" title="Harding, A. E. <strong>The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of 'the Drew family of Walworth.'.</strong> Brain 105: 1-28, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7066668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7066668</a>] [<a href="https://doi.org/10.1093/brain/105.1.1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7066668">Harding (1982)</a>. <a href="#4" class="mim-tip-reference" title="Anttinen, A., Nikoskelainen, E., Marttila, R. J., Grenman, R., Falck, B., Aarnisalo, E., Kalimo, H. <strong>Familial olivopontocerebellar atrophy with macular degeneration: a separate entity among the olivopontocerebellar atrophies.</strong> Acta Neurol. Scand. 73: 180-190, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3705927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3705927</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1986.tb03261.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3705927">Anttinen et al. (1986)</a> stated a preference for 'macular degeneration' rather than 'retinal degeneration.' (One of the patients described by <a href="#16" class="mim-tip-reference" title="Duinkerke-Eerola, K. U., Cruysberg, J. R. M., Deutman, A. F. <strong>Atrophic maculopathy associated with hereditary ataxia.</strong> Am. J. Ophthal. 90: 597-603, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7446640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7446640</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)75125-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7446640">Duinkerke-Eerola et al. (1980)</a> was restudied by <a href="#13" class="mim-tip-reference" title="Cruysberg, J. R. M., Eerola, K. U., Vrijland, H. R., Aandekerk, A. L., Kremer, H. P. H., Deutman, A. F. <strong>Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy.</strong> Am. J. Ophthal. 133: 410-413, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11860984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11860984</a>] [<a href="https://doi.org/10.1016/s0002-9394(01)01333-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11860984">Cruysberg et al. (2002)</a>, who concluded that he had a separate neurodegenerative entity characterized by autosomal recessive cerebellar ataxia and progressive macular dystrophy with a bull's eye pattern. The patient did not show CAG trinucleotide repeat expansion in various SCA genes, including ATXN7.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7066668+7446640+11860984+5571047+3705927" 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="#12" class="mim-tip-reference" title="Cooles, P., Michaud, R., Best, P. V. <strong>A dominantly inherited progressive disease in a black family characterized by cerebellar and retinal degeneration, external ophthalmoplegia and abnormal mitochondria.</strong> J. Neurol. Sci. 87: 275-288, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3210038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3210038</a>] [<a href="https://doi.org/10.1016/0022-510x(88)90252-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3210038">Cooles et al. (1988)</a> described a black Dominican family in which a large number of individuals in at least 5 generations had cerebellar and retinal degeneration with morphologically abnormal mitochondria. <a href="#12" class="mim-tip-reference" title="Cooles, P., Michaud, R., Best, P. V. <strong>A dominantly inherited progressive disease in a black family characterized by cerebellar and retinal degeneration, external ophthalmoplegia and abnormal mitochondria.</strong> J. Neurol. Sci. 87: 275-288, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3210038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3210038</a>] [<a href="https://doi.org/10.1016/0022-510x(88)90252-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3210038">Cooles et al. (1988)</a> suggested that the clinical picture most closely resembled that of the black families reported by <a href="#31" class="mim-tip-reference" title="Jampel, R. S., Okazaki, H., Bernstein, H. <strong>Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia.</strong> Arch. Ophthal. 66: 247-259, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13789353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13789353</a>] [<a href="https://doi.org/10.1001/archopht.1961.00960010249017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13789353">Jampel et al. (1961)</a> and <a href="#48" class="mim-tip-reference" title="Weiner, L. P., Konigsmark, B. W., Stoll, J., Jr., Magladery, J. W. <strong>Hereditary olivopontocerebellar atrophy with retinal degeneration: report of a family through six generations.</strong> Arch. Neurol. 16: 364-376, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6021917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6021917</a>] [<a href="https://doi.org/10.1001/archneur.1967.00470220028004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6021917">Weiner et al. (1967)</a>. Abnormally large mitochondria with irregular cristae were found in muscle biopsy specimens. None of the affected males in this family had offspring. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13789353+3210038+6021917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Enevoldson, T. P., Sanders, M. D., Harding, A. E. <strong>Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: a clinical and genetic study of eight families.</strong> Brain 117: 445-460, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8032856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8032856</a>] [<a href="https://doi.org/10.1093/brain/117.3.445" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8032856">Enevoldson et al. (1994)</a> described 8 families segregating autosomal dominant cerebellar ataxia associated with pigmentary macular degeneration. Two-thirds of the 14 patients presented with ataxia, and the other third with visual failure with or without ataxia. Pedigree analysis demonstrated nonmanifesting obligate carriers and anticipation in the offspring of affected fathers. Dysarthria was invariably present early in the disease. Deep tendon reflexes were usually brisk, but extrapyramidal features were rare and were limited to small choreic movements in the distal limbs. Only 1 patient had orofacial dyskinesias. Sphincter control was normal until terminal disease. Saccadic slowing occurred early in the disease and developed into almost complete external ophthalmoparesis. Progressive visual loss occurred in all patients, although in 1 patient it followed the onset of ataxia by 22 years. All 3 children who developed symptoms before the age of 14 months were dead by 22 months. Unlike the adult-onset cases, early-onset cases presented with depressed or absent deep tendon reflexes. Although linkage analysis was not performed on these patients, the authors argued that the macular degeneration and the presence of early onset of fulminant disease after transmission from fathers are distinctive features of this disorder, clearly distinguishing it from spinocerebellar atrophy types I and II. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8032856" 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="#23" class="mim-tip-reference" title="Gouw, L. G., Kaplan, C. D., Haines, J. H., Digre, K. B., Rutledge, S. L., Matilla, A., Leppert, M., Zoghbi, H. Y., Ptacek, L. J. <strong>Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.</strong> Nature Genet. 10: 89-93, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647799</a>] [<a href="https://doi.org/10.1038/ng0595-89" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647799">Gouw et al. (1995)</a> reported 4 families with SCA and associated retinal degeneration. Two of the kindreds were Caucasian and 2 were African American. The disorder was manifested by early loss of color discrimination in the tritan axis (blue-yellow) followed by loss of vision and progressive ataxia. Index cases presented initially with visual problems and subsequent episodes of instability and incoordination that worsened inexorably. Dysmetria and dysarthria were present on examination, although no extrapyramidal signs or dementia were seen. Tritan colorblindness (<a href="/entry/190900">190900</a>) is an exceedingly rare dichromatic deficiency; thus it is a highly sensitive and specific symptom seen before the other manifestations in this disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="David, G., Abbas, N., Stevanin, G., Durr, 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., Mandel, J.-L., Brice, A. <strong>Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.</strong> Nature Genet. 17: 65-70, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9288099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9288099</a>] [<a href="https://doi.org/10.1038/ng0997-65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9288099">David et al. (1997)</a> noted that SCA7 is the first of the neurodegenerative disorders caused by an expanded trinucleotide repeat in which the degenerative process also affects the retina. In 5 families with 18 affected individuals, the mean age at onset of visual failure was 22 years with a range from 1 to 45 years. Decreased visual acuity occurred in 83%, with blindness in 28%. Optic atrophy was present in 69%; pigmentary retinopathy in 43%; supranuclear ophthalmoplegia in 56%; and viscosity of eye movements in 79%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9288099" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 19 of 27 (70%) patients with confirmed SCA types 1, 2 (<a href="/entry/183090">183090</a>), 3 (<a href="/entry/109150">109150</a>), 6 (<a href="/entry/183086">183086</a>), or 7, <a href="#46" class="mim-tip-reference" title="van de Warrenburg, B. P. C., Notermans, N. C., Schelhaas, H. J., van Alfen, N., Sinke, R. J., Knoers, N. V. A. M., Zwarts, M. J., Kremer, B. P. H. <strong>Peripheral nerve involvement in spinocerebellar ataxias.</strong> Arch. Neurol. 61: 257-261, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14967775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14967775</a>] [<a href="https://doi.org/10.1001/archneur.61.2.257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14967775">van de Warrenburg et al. (2004)</a> found electrophysiologic evidence of peripheral nerve involvement. Eight patients (30%) had findings compatible with a dying-back axonopathy, whereas 11 patients (40%) had findings consistent with a primary neuronopathy involving dorsal root ganglion and/or anterior horn cells; the 2 types were clinically almost indistinguishable. Two of 4 patients with SCA7 had an axonopathy and 2 had a neuronopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14967775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Pathologic Findings</em></strong></p><p>
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<a href="#29" class="mim-tip-reference" title="Holmberg, M., Duyckaerts, C., Durr, A., Cancel, G., Gourfinkel-An, I., Damier, P., Faucheux, B., Trottier, Y., Hirsch, E. C., Agid, Y., Brice, A. <strong>Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.</strong> Hum. Molec. Genet. 7: 913-918, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9536097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9536097</a>] [<a href="https://doi.org/10.1093/hmg/7.5.913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9536097">Holmberg et al. (1998)</a> performed postmortem brain examination of a 10-year-old boy with genetically confirmed SCA7 (85 CAG repeats). Neuronal intranuclear inclusions, identified by an antibody directed against the expanded polyglutamine domain, were identified in multiple areas of the brain. Inclusions were most frequent in the inferior olivary complex, a site of severe neuronal loss in SCA7, the lateral geniculate body, and the substantia nigra, but were also present in other brain regions, including the cerebral cortex which is not considered to be affected in the disease. Some cytoplasmic staining was also identified. Some inclusions stained positively for ubiquitin, but the degree was highly variable. <a href="#29" class="mim-tip-reference" title="Holmberg, M., Duyckaerts, C., Durr, A., Cancel, G., Gourfinkel-An, I., Damier, P., Faucheux, B., Trottier, Y., Hirsch, E. C., Agid, Y., Brice, A. <strong>Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.</strong> Hum. Molec. Genet. 7: 913-918, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9536097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9536097</a>] [<a href="https://doi.org/10.1093/hmg/7.5.913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9536097">Holmberg et al. (1998)</a> noted that nuclear inclusions are a common feature of polyglutamine disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9536097" 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="#39" class="mim-tip-reference" title="Michalik, A., Martin, J.-J., Van Broeckhoven, C. <strong>Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.</strong> Europ. J. Hum. Genet. 12: 2-15, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571264</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14571264">Michalik et al. (2004)</a> presented a detailed clinical, pathologic, and molecular review of SCA7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571264" 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="#3" class="mim-tip-reference" title="Ansorge, O., Giunti, P., Michalik, A., Van Broeckhoven, C., Harding, B., Wood, N., Scaravilli, F. <strong>Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats.</strong> Ann. Neurol. 56: 448-452, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15349877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15349877</a>] [<a href="https://doi.org/10.1002/ana.20230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15349877">Ansorge et al. (2004)</a> reported an infant with SCA7 and 180 CAG repeats in the ATXN7 gene. Signs and symptoms appeared at 9 months of age with developmental delay, failure to thrive, and limb tremor. Retinal pigmentary degeneration, nystagmus, hypotonia, and cerebellar ataxia were present by 19 months, and the patient died at 29 months. Postmortem examination showed severe olivopontocerebellar atrophy and thinning of the spinal cord. Ataxin-7 nuclear inclusions were seen throughout the nervous system; however, inclusions were not always associated with neuronal loss, as was particularly evident in the hippocampus. Nuclear inclusions were also present in endothelial cells, cardiac and skeletal muscle, pancreas, and epithelial cells of Brunner glands in the duodenum. In contrast to neuronal inclusions, nonneuronal inclusions did not stain with ubiquitin. <a href="#3" class="mim-tip-reference" title="Ansorge, O., Giunti, P., Michalik, A., Van Broeckhoven, C., Harding, B., Wood, N., Scaravilli, F. <strong>Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats.</strong> Ann. Neurol. 56: 448-452, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15349877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15349877</a>] [<a href="https://doi.org/10.1002/ana.20230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15349877">Ansorge et al. (2004)</a> discussed differential ubiquitination of aggregates and the effect on cell survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15349877" 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>
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<p><a href="#34" class="mim-tip-reference" title="Koob, M. D., Benzow, K. A., Bird, T. D., Day, J. W., Moseley, M. L., Ranum, L. P. W. <strong>Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.</strong> Nature Genet. 18: 72-75, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425905</a>] [<a href="https://doi.org/10.1038/ng0198-72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425905">Koob et al. (1998)</a> described a novel procedure for quick isolation of expanded trinucleotide repeats and the corresponding flanking nucleotide sequence directly from small amounts of genomic DNA by a process called Repeat Analysis, Pooled Isolation, and Detection (RAPID cloning) of individual clones containing expanded trinucleotide repeats. They used this technique to clone the pathogenic SCA7 CAG expansion from an archived DNA sample from an individual affected with ataxia and retinal degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425905" 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>
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<p><a href="#22" class="mim-tip-reference" title="Gouw, L. G., Digre, K. B., Harris, C. P., Haines, J. H., Ptacek, L. J. <strong>Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.</strong> Neurology 44: 1441-1447, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8058146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8058146</a>] [<a href="https://doi.org/10.1212/wnl.44.8.1441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8058146">Gouw et al. (1994)</a> excluded linkage to SCA1 (<a href="/entry/164400">164400</a>) and SCA2 (<a href="/entry/183090">183090</a>) in a 4-generation pedigree segregating retinal degeneration, cerebellar ataxia, slow saccades, ophthalmoparesis, and pyramidal dysfunction. Autopsy of the proband showed degeneration of cerebellum, basis pontis, inferior olive, and retinal ganglion cells. <a href="#22" class="mim-tip-reference" title="Gouw, L. G., Digre, K. B., Harris, C. P., Haines, J. H., Ptacek, L. J. <strong>Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.</strong> Neurology 44: 1441-1447, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8058146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8058146</a>] [<a href="https://doi.org/10.1212/wnl.44.8.1441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8058146">Gouw et al. (1994)</a> concluded that OPCA III is genetically distinct from SCA1 and SCA2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8058146" 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="Benomar, A., Krols, L., Stevanin, G., Cancel, G., LeGuern, E., David, G., Ouhabi, H., Martin, J.-J., Durr, A., Zaim, A., Ravise, N., Busque, C., Penet, C., Van Regemorter, N., Weissenbach, J., Yahyaoui, M., Chkili, T., Agid, Y., Van Broeckhoven, C., Brice, A. <strong>The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.</strong> Nature Genet. 10: 84-88, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647798</a>] [<a href="https://doi.org/10.1038/ng0595-84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647798">Benomar et al. (1995)</a> mapped the gene for this disorder to 3p21.1-p12. No genetic heterogeneity was found among the 4 Moroccan, Belgian, and French families studied. Multipoint analysis identified a candidate interval of 8-cM around D3S1285. <a href="#23" class="mim-tip-reference" title="Gouw, L. G., Kaplan, C. D., Haines, J. H., Digre, K. B., Rutledge, S. L., Matilla, A., Leppert, M., Zoghbi, H. Y., Ptacek, L. J. <strong>Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.</strong> Nature Genet. 10: 89-93, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647799</a>] [<a href="https://doi.org/10.1038/ng0595-89" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647799">Gouw et al. (1995)</a> mapped the disorder to 3p21.1-p14 in 4 families. <a href="#30" class="mim-tip-reference" title="Holmberg, M., Johansson, J., Forsgren, L., Heijbel, J., Sandgren, O., Holmgren, G. <strong>Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.</strong> Hum. Molec. Genet. 4: 1441-1445, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581386</a>] [<a href="https://doi.org/10.1093/hmg/4.8.1441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581386">Holmberg et al. (1995)</a> found linkage to microsatellite markers on 3p21.1-p12 in a Swedish family with ataxia, dysarthria, and severely impaired vision in an autosomal dominant pedigree pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7647798+7647799+7581386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="David, G., Giunti, P., Abbas, N., Coullin, P., Stevanin, G., Horta, W., Gemmill, R., Weissenbach, J., Wood, N., Cunha, S., Drabkin, H., Harding, A. E., Agid, Y., Brice, A. <strong>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.</strong> Am. J. Hum. Genet. 59: 1328-1336, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940279</a>]" pmid="8940279">David et al. (1996)</a> investigated 2 families with the disorder that they referred to as ADCA type II. Linkage analysis of these families of different geographic origins (one from Brazil and the other from the UK) confirmed the genetic homogeneity of ADCA type II, distinguishing it from ADCA type I. They mapped the gene to a 5-cM region on 3p13-p12. In contrast to the genetic homogeneity, considerable clinical heterogeneity was demonstrated by variability in age at onset, initial symptoms, and associated signs. <a href="#35" class="mim-tip-reference" title="Krols, L., Martin, J.-J., David, G., Van Regemorter, N., Benomar, A., Lofgren, A., Stevanin, G., Durr, A., Brice, A., Van Broeckhoven, C. <strong>Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.</strong> Hum. Genet. 99: 225-232, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9048926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9048926</a>] [<a href="https://doi.org/10.1007/s004390050344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9048926">Krols et al. (1997)</a> refined the assignment of the SCA7 locus on 3p. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9048926+8940279" 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>
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<p>SCA7 is an autosomal dominant disorder. Gonadal instability is pronounced and is associated with paternal transmission (<a href="#14" class="mim-tip-reference" title="David, G., Abbas, N., Stevanin, G., Durr, 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., Mandel, J.-L., Brice, A. <strong>Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.</strong> Nature Genet. 17: 65-70, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9288099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9288099</a>] [<a href="https://doi.org/10.1038/ng0997-65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9288099">David et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9288099" 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="#40" class="mim-tip-reference" title="Mittal, U., Roy, S., Jain, S., Srivastava, A. K., Mukerji, M. <strong>Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family.</strong> J. Hum. Genet. 50: 155-157, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15750685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15750685</a>] [<a href="https://doi.org/10.1007/s10038-005-0233-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15750685">Mittal et al. (2005)</a> reported an Indian patient with SCA7 confirmed by genetic analysis. There was no family history of the disorder. Genetic analysis identified a de novo expansion of 59 CAG repeats on the paternal allele of the ATXN7 gene. His unaffected father had an expansion in the intermediate range, with 31 repeats. Analysis of the father's sperm sample did not show gonadal mosaicism, suggesting that the expansion was postzygotic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15750685" 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>
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<p>Using a monoclonal antibody that recognizes expanded polyglutamine stretches in TATA box-binding protein (<a href="/entry/600075">600075</a>), expanded huntingtin (<a href="/entry/613004">613004</a>), expanded ataxin-1 (<a href="/entry/601556">601556</a>), and 3 expanded proteins from individuals affected with SCA3 (<a href="/entry/109150">109150</a>), <a href="#44" class="mim-tip-reference" title="Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L., Agid, Y., Brice, A., Mandel, J.-L. <strong>Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.</strong> Nature 378: 403-406, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477379</a>] [<a href="https://doi.org/10.1038/378403a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477379">Trottier et al. (1995)</a> demonstrated a 130-kD protein in 2 unrelated patients with SCA7. By analogy with other triplet repeat disorders, the authors suggested that this was the protein encoded by the gene whose mutation causes this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using repeat expansion detection (RED), a method in which a thermolabile ligase is used to detect repeat expansions directly from genomic DNA, <a href="#37" class="mim-tip-reference" title="Lindblad, K., Savontaus, M.-L., Stevanin, G., Holmberg, M., Digre, K., Zander, C., Ehrsson, H., David, G., Benomar, A., Nikoskelainen, E., Trottier, Y., Holmgren, G., Ptacek, L. J., Anttinen, A., Brice, A., Schalling, M. <strong>An expanded CAG repeat sequence in spinocerebellar ataxia type 7.</strong> Genome Res. 6: 965-971, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8908515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8908515</a>] [<a href="https://doi.org/10.1101/gr.6.10.965" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8908515">Lindblad et al. (1996)</a> analyzed 8 SCA7 families for the presence of (CAG)n repeat expansion. RED products of 150 to 240 bp were found in all affected individuals and were found to cosegregate with the disease, suggesting strongly that a (CAG)n expansion is the cause of SCA7. On the basis of a previously established correlation between RED product sizes and actual repeat sizes in Machado-Joseph disease (<a href="/entry/109150">109150</a>), they were able to estimate the average expansion size in SCA7 to be 64 CAG copies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8908515" 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 18 patients from 5 families with SCA7, <a href="#14" class="mim-tip-reference" title="David, G., Abbas, N., Stevanin, G., Durr, 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., Mandel, J.-L., Brice, A. <strong>Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.</strong> Nature Genet. 17: 65-70, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9288099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9288099</a>] [<a href="https://doi.org/10.1038/ng0997-65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9288099">David et al. (1997)</a> identified expanded CAG repeats in the ATXN7 gene (<a href="/entry/607640#0001">607640.0001</a>). CAG repeat size was highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranged from 7 to 17 repeats. Gonadal instability in SCA7 was greater than that observed in any of the known neurodegenerative disorders caused by translated CAG repeat expansions, and the instability was particularly striking on paternal transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9288099" 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 Anticipation</em></strong></p><p>
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<a href="#23" class="mim-tip-reference" title="Gouw, L. G., Kaplan, C. D., Haines, J. H., Digre, K. B., Rutledge, S. L., Matilla, A., Leppert, M., Zoghbi, H. Y., Ptacek, L. J. <strong>Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.</strong> Nature Genet. 10: 89-93, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647799</a>] [<a href="https://doi.org/10.1038/ng0595-89" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647799">Gouw et al. (1995)</a> found genetic anticipation in one family with the disorder. Two affected members of generation II first noted mild symptoms at ages 52 and 53; in generation III, onset of symptoms was between ages 31 and 49 with more marked phenotype; in generation IV, 2 members were reported ataxic at birth, both dying within 2 years; other members of generation IV were affected between the ages of 14 and 34 with earlier onset corresponding to more rapid progression to severe disease. Notably, no affected children in any of the 4 kindreds had age of onset later than their parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647799" 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="#30" class="mim-tip-reference" title="Holmberg, M., Johansson, J., Forsgren, L., Heijbel, J., Sandgren, O., Holmgren, G. <strong>Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.</strong> Hum. Molec. Genet. 4: 1441-1445, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581386</a>] [<a href="https://doi.org/10.1093/hmg/4.8.1441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581386">Holmberg et al. (1995)</a> reported a 5-generation Swedish family with the disorder descended from a couple born in the latter part of the 19th century in the Province of Vasterbotten in northern Sweden. DNA was studied from 9 patients in 3 generations alive at the beginning of the study, as well as from 2 deceased patients. The family showed anticipation resulting in infantile onset in the latest generation with severe and rapid course of disease; earlier generations had onset in the fourth or fifth decade with relatively slow progression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581386" 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>Analysis of 23 affected parent-child pairs by <a href="#15" class="mim-tip-reference" title="David, G., Giunti, P., Abbas, N., Coullin, P., Stevanin, G., Horta, W., Gemmill, R., Weissenbach, J., Wood, N., Cunha, S., Drabkin, H., Harding, A. E., Agid, Y., Brice, A. <strong>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.</strong> Am. J. Hum. Genet. 59: 1328-1336, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940279</a>]" pmid="8940279">David et al. (1996)</a> demonstrated marked anticipation that was greater in paternal than in maternal transmissions and a more rapid clinical course in successive generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8940279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Stevanin, G., Giunti, P., David, G., Belal, S., Durr, A., Ruberg, M., Wood, N., Brice, A. <strong>De novo expansion of intermediate alleles in spinocerebellar ataxia 7.</strong> Hum. Molec. Genet. 7: 1809-1813, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9736784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9736784</a>] [<a href="https://doi.org/10.1093/hmg/7.11.1809" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9736784">Stevanin et al. (1998)</a> stated that normal ATXN7 alleles carry from 4 to 35 CAG repeats, whereas pathologic alleles carry from 37 to approximately 200. Intermediate ATXN7 alleles, with 28 to 35 repeats, are exceedingly rare in the general population and are not associated with the SCA7 phenotype, although they were found among relatives of 4 SCA7 patients. In 2 such families, intermediate alleles bearing 35 and 28 CAG repeats gave rise, during paternal transmission, to ATXN7 expansions of 57 and 47 repeats, respectively, that were confirmed by haplotype reconstructions in one case and by inference in the other. Furthermore, in these and 2 other families in which relatives had intermediate alleles, the 4 haplotypes segregating with the intermediate alleles were identical to the expanded alleles in each family, but differed among the families, indicating multiple origins of the ATXN7 mutation in these families with different geographic origins. The results provided the first evidence of de novo ATXN7 expansions from intermediate alleles that are not associated with the phenotype but can expand to the pathologic range during some paternal transmissions. Intermediate alleles that segregate in unaffected branches of the pedigrees may, therefore, constitute a reservoir for future de novo mutations that occur in a recurrent but random manner. This would explain the persistence of the disorder in spite of the great anticipation (approximately 20 years per generation) characteristic of SCA7. Previously, de novo expansions among the disorders caused by translated CAG repeat expansion (polyglutamine repeat) have been demonstrated only in Huntington disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9736784" 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 Spain, the Ataxia Study Group (<a href="#41" class="mim-tip-reference" title="Pujana, M. A., Corral, J., Gratacos, M., Combarros, O., Berciano, J., Genis, D., Banchs, I., Estivill, X., Volpini, V., Ataxia Study Group. <strong>Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases.</strong> Hum. Genet. 104: 516-522, 1999. Note: Erratum: Hum. Genet. 105: 376 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10453742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10453742</a>] [<a href="https://doi.org/10.1007/s004390050997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10453742">Pujana et al., 1999</a>) found that it was in a family with SCA7 that the highest CAG repeat variation in meiotic transmission of expanded alleles was detected, this being an expansion of 67 units in 1 paternal transmission, giving rise to a 113 CAG repeat allele in a patient who died at 3 years of age. Analysis of CAG repeat variation in meiosis also showed a tendency to more frequent paternal transmission of expanded alleles in SCA1 (<a href="/entry/164400">164400</a>) and SCA7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10453742" 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="Giunti, P., Stevanin, G., Worth, P. F., David, G., Brice, A., Wood, N. W. <strong>Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.</strong> Am. J. Hum. Genet. 64: 1594-1603, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330346</a>] [<a href="https://doi.org/10.1086/302406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330346">Giunti et al. (1999)</a> found the SCA7 mutation in 54 patients and 7 at-risk subjects from 17 families who had autosomal dominant cerebellar ataxia with progressive pigmentary maculopathy. Haplotype reconstruction through 3 generations of 1 family confirmed a de novo mutation owing to paternal meiotic instability. Different disease-associated haplotypes segregated among the SCA7-positive kindreds, which indicated a multiple origin of the mutation. One family with a clinical phenotype did not have the CAG expansion, thus indicating locus heterogeneity. Distribution of the repeat size in 944 independent normal chromosomes from controls, unaffected at-risk subjects, and one affected individual fell into 2 ranges; most of the alleles were in the range of 7 to 19 CAG repeats. A second range could be identified with 28 to 35 repeats, and <a href="#21" class="mim-tip-reference" title="Giunti, P., Stevanin, G., Worth, P. F., David, G., Brice, A., Wood, N. W. <strong>Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.</strong> Am. J. Hum. Genet. 64: 1594-1603, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330346</a>] [<a href="https://doi.org/10.1086/302406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10330346">Giunti et al. (1999)</a> provided evidence that these repeats represent intermediate alleles that are prone to further expansion. The repeat size of the pathologic allele, said to be the widest reported for any CAG-repeat disorder, ranged from 37 to approximately 220. The repeat size showed negative correlation with both age at onset and age at death. The most frequently associated features in patients with SCA7 were pigmentary maculopathy, pyramidal tract involvement, and slow saccades. The subjects with repeat numbers less than 49 tended to have a less complicated neurologic phenotype and a longer disease duration, whereas the converse applied to subjects with 49 repeats or more. The degree of instability during meiotic transmission was greater than in all other CAG-repeat disorders and was particularly striking in paternal transmission, in which a median increase in repeat size of 6 and an interquartile range of 12 was observed, versus a median increase of 3 and interquartile range of 3.5 in maternal transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330346" 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="Gu, W., Wang, Y., Liu, X., Zhou, B., Zhou, Y., Wang, G. <strong>Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds.</strong> Arch. Neurol. 57: 1513-1518, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11030806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11030806</a>] [<a href="https://doi.org/10.1001/archneur.57.10.1513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11030806">Gu et al. (2000)</a> evaluated 4 Chinese kindreds with autosomal dominant cerebellar ataxia and decreased visual acuity for mutations in the ATXN7 gene. A mutation was identified in 2 families which showed great variation in age of onset, initial symptoms, and associated signs. Marked inter- and intrafamilial clinical variability was manifest. Analysis of 11 parent-child couples demonstrated the existence of marked anticipation. The CAG repeats ranged from 44 to 85, with strong negative correlation between repeat size and age of onset. Repeat length of expanded alleles showed somatic mosaicism in leukocyte DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11030806" 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="van de Warrenburg, B. P. C., Hendriks, H., Durr, A., van Zuijlen, M. C. A., Stevanin, G., Camuzat, A., Sinke, R. J., Brice, A., Kremer, B. P. H. <strong>Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.</strong> Ann. Neurol. 57: 505-512, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15747371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15747371</a>] [<a href="https://doi.org/10.1002/ana.20424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15747371">Van de Warrenburg et al. (2005)</a> applied statistical analysis to examine the relationship between age at onset and number of expanded triplet repeats from a Dutch-French cohort of 802 patients with SCA1 (138 patients), SCA2 (166 patients), SCA3 (342 patients), SCA6 (53 patients), and SCA7 (103 patients). The size of the expanded repeat explained 66 to 75% of the variance in age at onset for SCA1, SCA2, and SCA7, but less than 50% for SCA3 and SCA6. The relation between age at onset and CAG repeat was similar for all groups except for SCA2, suggesting that the polyglutamine repeat in the ataxin-2 protein exerts its pathologic effect in a different way. A contribution of the nonexpanded allele to age at onset was observed for only SCA1 and SCA6. <a href="#45" class="mim-tip-reference" title="van de Warrenburg, B. P. C., Hendriks, H., Durr, A., van Zuijlen, M. C. A., Stevanin, G., Camuzat, A., Sinke, R. J., Brice, A., Kremer, B. P. H. <strong>Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.</strong> Ann. Neurol. 57: 505-512, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15747371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15747371</a>] [<a href="https://doi.org/10.1002/ana.20424" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15747371">Van de Warrenburg et al. (2005)</a> acknowledged that their results were purely mathematical, but suggested that they reflected biologic variations among the diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15747371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#43" class="mim-tip-reference" title="Storey, E., du Sart, D., Shaw, J. H., Lorentzos, P., Kelly, L., Gardner, R. J. M., Forrest, S. M., Biros, I., Nicholson, G. A. <strong>Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia.</strong> Am. J. Med. Genet. 95: 351-357, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186889</a>] [<a href="https://doi.org/10.1002/1096-8628(20001211)95:4<351::aid-ajmg10>3.0.co;2-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11186889">Storey et al. (2000)</a> examined the frequency of mutations for SCA types 1, 2, 3, 6, and 7 in southeastern Australia. Of 63 pedigrees or individuals with positive tests, 30% had SCA1, 15% had SCA2, 22% had SCA3, 30% had SCA6, and 3% had SCA7. Ethnic origin was of importance in determining SCA type: 4 of 9 SCA2 index cases were of Italian origin, and 4 of 14 SCA3 index cases were of Chinese origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Whereas SCA7 is considered to be one of the most rare forms of genetically verified autosomal dominant cerebellar ataxia, <a href="#33" class="mim-tip-reference" title="Jonasson, J., Juvonen, V., Sistonen, P., Ignatius, J., Johansson, D., Bjorck, E. J., Wahlstrom, J., Melberg, A., Holmgren, G., Forsgren, L., Holmberg, M. <strong>Evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.</strong> Europ. J. Hum. Genet. 8: 918-922, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11175279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11175279</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11175279">Jonasson et al. (2000)</a> found it to be the most frequent subtype in Sweden and Finland in a survey of hereditary ataxias in Scandinavia. They identified SCA7 in 8 Swedish and 7 Finnish families but found no affected Norwegian or Danish families. All 37 affected patients displayed expanded CAG repeats, and 9 clinically unaffected relatives also showed CAG expansions ranging from 38 to 53 repeats. Two carriers with 39 and 40 CAG repeats were still healthy at ages 68 and 85, respectively, and 1 individual with 39 CAG repeats presented with symptoms as late as age 74. Haplotype analysis using 9 microsatellite markers and 1 intragenic polymorphism covering a 10.2-cM region of chromosome 3p containing the ATXN7 gene showed that all 15 Swedish/Finnish families shared a common haplotype for the intragenic polymorphism and the centromeric markers D3S1287 and D3S1228, covering more than 1.9 cM of the ATXN7 gene region. Larger haplotypes were shared by families within a geographic region than by families from different geographic regions within the 2 countries. Linkage disequilibrium calculations were highly significant for the segregation of 1 haplotype on disease-bearing chromosomes, providing evidence for a strong founder effect for SCA7 in Scandinavia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11175279" 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 South Africa, spinocerebellar ataxia type 7 occurs exclusively in indigenous Black African patients and seems to have a higher incidence in South Africa compared with the rest of the world (<a href="#9" class="mim-tip-reference" title="Bryer, A., Krause, A., Bill, P., Davids, V., Bryant, D., Butler, J., Heckmann, J., Ramesar, R., Greenberg, J. <strong>The hereditary adult-onset ataxias in South Africa.</strong> J. Neurol. Sci. 216: 47-54, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14607302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14607302</a>] [<a href="https://doi.org/10.1016/s0022-510x(03)00209-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14607302">Bryer et al., 2003</a>). <a href="#24" class="mim-tip-reference" title="Greenberg, J., Solomon, G. A. E., Vorster, A. A., Heckmann, J., Bryer, A. <strong>Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. (Letter)</strong> Clin. Genet. 70: 415-417, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17026624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17026624</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00680.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17026624">Greenberg et al. (2006)</a> performed haplotype studies in 13 SCA7 families from the indigenous Black African population and found a probable SCA7 founder effect. Most of the 13 Black SCA7 families originated in different geographic regions of South Africa. <a href="#24" class="mim-tip-reference" title="Greenberg, J., Solomon, G. A. E., Vorster, A. A., Heckmann, J., Bryer, A. <strong>Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. (Letter)</strong> Clin. Genet. 70: 415-417, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17026624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17026624</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00680.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17026624">Greenberg et al. (2006)</a> suggested an alternative hypothesis, namely that the area centromeric to the SCA7 mutation harbors a susceptibility factor rendering the SCA7 locus unstable and at risk for repeated expansion to premutation and mutation states. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14607302+17026624" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Magana, J. J., Tapia-Guerrero, Y. S., Velazquez-Perez, L., Cerecedo-Zapata, C. M., Maldonado-Rodriguez, M., Jano-Ito, J. S., Leyva-Garcia, N., Gonzalez-Pina, R., Martinez-Cruz, E., Hernandez-Hernandez, O., Cisneros, B. <strong>Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect.</strong> Clin. Genet. 85: 159-165, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23368522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23368522</a>] [<a href="https://doi.org/10.1111/cge.12114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23368522">Magana et al. (2014)</a> used a PCR-based method to screen 10 families with late-onset cerebellar ataxia from the Veracruz state of Mexico for SCA1, SCA2, SCA3, SCA6, and SCA7 mutations. Eight of the 10 families were determined to have SCA7 and 2 had SCA2. The 8 SCA7 families comprised 55 affected individuals, most of whom came from 1 very large 6-generation family. Expanded pathogenic ataxin-7 alleles ranged from 34 to 72 CAG repeats. The patients had typical symptomatology of their respective diseases. The findings indicated a high prevalence of SCA7 (85.94%) among all forms of SCA in this Mexican population, consistent with a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23368522" 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>
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<p>By using constructs with tissue-specific promoters, <a href="#51" class="mim-tip-reference" title="Yvert, G., Lindenberg, K. S., Picaud, S., Landwehrmeyer, G. B., Sahel, J. -A., Mandel, J.-L. <strong>Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice.</strong> Hum. Molec. Genet. 9: 2491-2506, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11030754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11030754</a>] [<a href="https://doi.org/10.1093/hmg/9.17.2491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11030754">Yvert et al. (2000)</a> generated transgenic mice that expressed mutant human ataxin-7 in either Purkinje cells or retinal rod photoreceptors. Mice overexpressing full-length mutant ataxin-7(Q90) either in Purkinje cells or in rod photoreceptors had deficiencies in motor coordination and vision, respectively. In both models, an N-terminal fragment of mutant ataxin-7 accumulated within ubiquitinated nuclear inclusions that recruited a distinct set of chaperone/proteasome subunits. A severe degeneration was caused by overexpression of ataxin-7(Q90) in rods, whereas a similar overexpression of normal ataxin-7(Q10) had no obvious effect. The degenerative process was not limited to photoreceptors, and secondary alterations were seen in postsynaptic neurons. The authors suggested that proteolytic cleavage of mutant ataxin-7 and transneuronal responses are implicated in the pathogenesis of SCA7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11030754" 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>To study the mechanism of polyglutamine neurotoxicity in SCA7, <a href="#36" class="mim-tip-reference" title="La Spada, A. R., Fu, Y.-H., Sopher, B. L., Libby, R. T., Wang, X., Li, L. Y., Einum, D. D., Huang, J., Possin, D. E., Smith, A. C., Martinez, R. A., Koszdin, K. L., Treuting, P. M., Ware, C. B., Hurley, J. B., Ptacek, L. J., Chen, S. <strong>Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.</strong> Neuron 31: 913-927, 2001. Note: Erratum: Neuron 32: 957-958, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11580893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11580893</a>] [<a href="https://doi.org/10.1016/s0896-6273(01)00422-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11580893">La Spada et al. (2001)</a> generated a transgenic mouse model of SCA7 that expressed ataxin-7 with 92 glutamines in the CNS and retina. They observed a cone-rod dystrophy type of retinal degeneration. Using yeast 2-hybrid studies, <a href="#36" class="mim-tip-reference" title="La Spada, A. R., Fu, Y.-H., Sopher, B. L., Libby, R. T., Wang, X., Li, L. Y., Einum, D. D., Huang, J., Possin, D. E., Smith, A. C., Martinez, R. A., Koszdin, K. L., Treuting, P. M., Ware, C. B., Hurley, J. B., Ptacek, L. J., Chen, S. <strong>Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.</strong> Neuron 31: 913-927, 2001. Note: Erratum: Neuron 32: 957-958, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11580893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11580893</a>] [<a href="https://doi.org/10.1016/s0896-6273(01)00422-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11580893">La Spada et al. (2001)</a> demonstrated that ataxin-7 interacts with CRX (<a href="/entry/602225">602225</a>), a nuclear transcription factor predominantly expressed in retinal photoreceptor cells. Mutations in the CRX gene cause cone-rod dystrophy-2 (<a href="/entry/120970">120970</a>) in humans. Coimmunoprecipitation experiments colocalized ataxin-7 with CRX in nuclear aggregates. Using a rhodopsin promoter-reporter construct, <a href="#36" class="mim-tip-reference" title="La Spada, A. R., Fu, Y.-H., Sopher, B. L., Libby, R. T., Wang, X., Li, L. Y., Einum, D. D., Huang, J., Possin, D. E., Smith, A. C., Martinez, R. A., Koszdin, K. L., Treuting, P. M., Ware, C. B., Hurley, J. B., Ptacek, L. J., Chen, S. <strong>Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.</strong> Neuron 31: 913-927, 2001. Note: Erratum: Neuron 32: 957-958, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11580893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11580893</a>] [<a href="https://doi.org/10.1016/s0896-6273(01)00422-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11580893">La Spada et al. (2001)</a> observed that polyglutamine-expanded ataxin-7 suppressed CRX transactivation. With electrophoretic mobility shift assays and RT-PCR analysis, they observed a reduction in CRX binding activity and reductions in CRX-regulated genes in SCA7 transgenic retinas. The data suggested that the SCA7 transgenic mice faithfully recapitulated the process of retinal degeneration observed in human SCA7 patients. The authors hypothesized that ataxin-7-mediated transcription interference of photoreceptor-specific genes may account for the retinal degeneration in SCA7, and thus may provide an explanation for how cell-type specificity is achieved in this polyglutamine repeat disorder. By coimmunoprecipitation analysis of CRX and ATXN7 truncation and point mutants, <a href="#11" class="mim-tip-reference" title="Chen, S., Peng, G.-H., Wang, X., Smith, A. C., Grote, S. K., Sopher, B. L., La Spada, A. R. <strong>Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.</strong> Hum. Molec. Genet. 13: 53-67, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14613968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14613968</a>] [<a href="https://doi.org/10.1093/hmg/ddh005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14613968">Chen et al. (2004)</a> determined that the ATXN7-interacting domain of CRX localized to its glutamine-rich region and that the CRX-interacting domain of ATXN7 localized to its glutamine tract. Nuclear localization of ataxin-7 was required to repress Crx transactivation, and the likely nuclear localization signals were mapped to the C-terminal region of ataxin-7. Using chromatin immunoprecipitation, the authors showed that both Crx and ataxin-7 occupied the promoter and enhancer regions of Crx-regulated retinal genes in vivo. <a href="#11" class="mim-tip-reference" title="Chen, S., Peng, G.-H., Wang, X., Smith, A. C., Grote, S. K., Sopher, B. L., La Spada, A. R. <strong>Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.</strong> Hum. Molec. Genet. 13: 53-67, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14613968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14613968</a>] [<a href="https://doi.org/10.1093/hmg/ddh005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14613968">Chen et al. (2004)</a> suggested that one mechanism of SCA7 disease pathogenesis may be transcription dysregulation, and that CRX transcription interference may be a predominant factor in SCA7 cone-rod dystrophy retinal degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14613968+11580893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Yoo, S.-Y., Pennesi, M. E., Weeber, E. J., Xu, B., Atkinson, R., Chen, S., Armstrong, D. L., Wu, S. M., Sweatt, J. D., Zoghbi, H. Y. <strong>SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.</strong> Neuron 37: 383-401, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12575948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12575948</a>] [<a href="https://doi.org/10.1016/s0896-6273(02)01190-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12575948">Yoo et al. (2003)</a> generated a transgenic mouse model of severe infantile SCA7 with 266 CAG repeats. At 5 weeks of age, the mice demonstrated progressive weight loss, ptosis, ataxia, muscle wasting, kyphosis, and tremor. Electroretinogram (ERG) studies showed cone and rod photoreceptor defects, and there was progressive shortening of the outer segments of the retina with accumulation of mutant ataxin-7. Mutant ataxin-7 accumulated in various neuronal subtypes throughout the brain, suggesting that polyglutamine expansion stabilizes mutant ataxin-7. The authors suggested that accumulation of the mutant protein may cause downstream molecular events that hinder cell function and survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12575948" 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="#8" class="mim-tip-reference" title="Bowman, A. B., Yoo, S.-Y., Dantuma, N. P., Zoghbi, H. Y. <strong>Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation.</strong> Hum. Molec. Genet. 14: 679-691, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15661755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15661755</a>] [<a href="https://doi.org/10.1093/hmg/ddi064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15661755">Bowman et al. (2005)</a> assessed the ubiquitin-proteasome system (UPS) using transgenic mice with 266 CAG repeats and a ubiquitin (<a href="/entry/191339">191339</a>) reporter gene. Reporter levels were low during the initial phase of disease, suggesting that neuronal dysfunction occurs in the presence of a functional UPS. Late in disease, there was a significant increase in reporter levels specific to the most vulnerable neurons, resulting from increase in ubiquitin reporter mRNA. No evidence for general UPS impairment or reduction of proteasome activity was seen. The differential increase of ubiquitin reporter among individual neurons directly correlated with the downregulation of a marker of selective pathology and neuronal dysfunction in SCA7. There was an inverse correlation between the neuropathology revealed by the reporter and ataxin-7 nuclear inclusions in the vulnerable neurons. <a href="#8" class="mim-tip-reference" title="Bowman, A. B., Yoo, S.-Y., Dantuma, N. P., Zoghbi, H. Y. <strong>Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation.</strong> Hum. Molec. Genet. 14: 679-691, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15661755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15661755</a>] [<a href="https://doi.org/10.1093/hmg/ddi064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15661755">Bowman et al. (2005)</a> proposed a protective role for polyglutamine nuclear inclusions against neuronal dysfunction and excluded significant impairment of the UPS in polyglutamine neuropathology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15661755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using gene profiling and other techniques, <a href="#1" class="mim-tip-reference" title="Abou-Sleymane, G., Chalmel, F., Helmlinger, D., Lardenois, A., Thibault, C., Weber. C., Merienne, K., Mandel, J.-L., Poch, O., Devys, D., Trottier, Y. <strong>Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program.</strong> Hum. Molec. Genet. 15: 691-703, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16434483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16434483</a>] [<a href="https://doi.org/10.1093/hmg/ddi483" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16434483">Abou-Sleymane et al. (2006)</a> showed that polyQ expansion caused retinal degeneration in animal models of Huntington disease (HD; <a href="/entry/143100">143100</a>) and SCA7 by downregulating a large cohort of genes involved in phototransduction function and morphogenesis of differentiated rod photoreceptors and in rod photoreceptor differentiation. Transcription factors that inhibit photoreceptor differentiation were also aberrantly reactivated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16434483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using microarray analysis of the cerebellum in mouse models of SCA1 and SCA7, <a href="#20" class="mim-tip-reference" title="Gatchel, J. R., Watase, K., Thaller, C., Carson, J. P., Jafar-Nejad, P., Shaw, C., Zu, T., Orr, H. T., Zoghbi, H. Y. <strong>The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7.</strong> Proc. Nat. Acad. Sci. 105: 1291-1296, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18216249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18216249</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18216249[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.0711257105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18216249">Gatchel et al. (2008)</a> found that both disorders were associated with significant downregulation of Igfbp5 (<a href="/entry/146734">146734</a>) in the granular cell layer. Further analysis showed additional misregulation in both models, including activation of the IGF pathway and the Igf1 receptor (IGF1R; <a href="/entry/147370">147370</a>) in Purkinje cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18216249" 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="#32" class="mim-tip-reference" title="Janer, A., Werner, A., Takahashi-Fujigasaki, J., Daret, A., Fujigasaki, H., Takada, K., Duyckaerts, C., Brice, A., Dejean, A., Sittler, A. <strong>SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.</strong> Hum. Molec. Genet. 19: 181-195, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19843541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19843541</a>] [<a href="https://doi.org/10.1093/hmg/ddp478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19843541">Janer et al. (2010)</a> identified ATXN7 as target for sumoylation in vitro and in vivo. Sumoylation did not influence the subcellular localization of ATXN7 nor its interaction with components of the TFTC/STAGA complex. Expansion of the polyglutamine stretch did not impair the sumoylation of ATXN7. SUMO1 (<a href="/entry/601912">601912</a>) and SUMO2 (<a href="/entry/603042">603042</a>) colocalized with ATXN7 in a subset of neuronal intranuclear inclusions in the brain of SCA7 patients and Atxn7 knockin mice. In a COS-7 cellular model of SCA7, there were 2 populations of extranuclear inclusions: homogeneous and nonhomogeneous. Nonhomogeneous inclusions showed significantly reduced colocalization with SUMO1 and SUMO2, but were highly enriched in Hsp70 (HSPA1A; <a href="/entry/140550">140550</a>), 19S proteasome, and ubiquitin. These were characterized by increased staining with the apoptotic marker caspase-3 (CASP3; <a href="/entry/600636">600636</a>) and by disruption of PML nuclear bodies. Preventing the sumoylation of expanded ATXN7 by mutating the SUMO site increased both the amount of SDS-insoluble aggregates and of CASP3-positive nonhomogeneous inclusions, which are toxic to the cells. <a href="#32" class="mim-tip-reference" title="Janer, A., Werner, A., Takahashi-Fujigasaki, J., Daret, A., Fujigasaki, H., Takada, K., Duyckaerts, C., Brice, A., Dejean, A., Sittler, A. <strong>SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.</strong> Hum. Molec. Genet. 19: 181-195, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19843541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19843541</a>] [<a href="https://doi.org/10.1093/hmg/ddp478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19843541">Janer et al. (2010)</a> concluded that sumoylation influences the multistep aggregation process of ATXN7, and they implicated a role for ATXN7 sumoylation in SCA7 pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19843541" 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>
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<strong>REFERENCES</strong>
|
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</span>
|
|
</h4>
|
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<div>
|
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<p />
|
|
</div>
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|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Abou-Sleymane2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Abou-Sleymane, G., Chalmel, F., Helmlinger, D., Lardenois, A., Thibault, C., Weber. C., Merienne, K., Mandel, J.-L., Poch, O., Devys, D., Trottier, Y.
|
|
<strong>Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program.</strong>
|
|
Hum. Molec. Genet. 15: 691-703, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16434483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16434483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16434483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddi483" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Alfano1957" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Alfano, J. E., Berger, J. P.
|
|
<strong>Retinitis pigmentosa, ophthalmoplegia, and spastic quadriplegia.</strong>
|
|
Am. J. Ophthal. 43: 231-240, 1957.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13394671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13394671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13394671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9394(57)92915-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Ansorge2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ansorge, O., Giunti, P., Michalik, A., Van Broeckhoven, C., Harding, B., Wood, N., Scaravilli, F.
|
|
<strong>Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats.</strong>
|
|
Ann. Neurol. 56: 448-452, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15349877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15349877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15349877" 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.20230" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Anttinen1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Anttinen, A., Nikoskelainen, E., Marttila, R. J., Grenman, R., Falck, B., Aarnisalo, E., Kalimo, H.
|
|
<strong>Familial olivopontocerebellar atrophy with macular degeneration: a separate entity among the olivopontocerebellar atrophies.</strong>
|
|
Acta Neurol. Scand. 73: 180-190, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3705927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3705927</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3705927" 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.1600-0404.1986.tb03261.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Benomar1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benomar, A., Krols, L., Stevanin, G., Cancel, G., LeGuern, E., David, G., Ouhabi, H., Martin, J.-J., Durr, A., Zaim, A., Ravise, N., Busque, C., Penet, C., Van Regemorter, N., Weissenbach, J., Yahyaoui, M., Chkili, T., Agid, Y., Van Broeckhoven, C., Brice, A.
|
|
<strong>The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.</strong>
|
|
Nature Genet. 10: 84-88, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647798</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647798" 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/ng0595-84" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Benomar1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benomar, A., Le Guern, E., Durr, A., Ouhabi, H., Stevanin, G., Yahyaoui, M., Chkili, T., Agid, Y., Brice, A.
|
|
<strong>Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.</strong>
|
|
Ann. Neurol. 35: 439-444, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8154871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8154871</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8154871" 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.410350411" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Bjork1956" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bjork, A., Lindblom, U., Wadensten, L.
|
|
<strong>Retinal degeneration in hereditary ataxia.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 19: 186-193, 1956.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13357958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13357958</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13357958" 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.19.3.186" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Bowman2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bowman, A. B., Yoo, S.-Y., Dantuma, N. P., Zoghbi, H. Y.
|
|
<strong>Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation.</strong>
|
|
Hum. Molec. Genet. 14: 679-691, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15661755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15661755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15661755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddi064" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Bryer2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bryer, A., Krause, A., Bill, P., Davids, V., Bryant, D., Butler, J., Heckmann, J., Ramesar, R., Greenberg, J.
|
|
<strong>The hereditary adult-onset ataxias in South Africa.</strong>
|
|
J. Neurol. Sci. 216: 47-54, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14607302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14607302</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14607302" 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/s0022-510x(03)00209-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Carpenter1966" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Carpenter, S., Schumacher, G. A.
|
|
<strong>Familial infantile cerebellar atrophy associated with retinal degeneration.</strong>
|
|
Arch. Neurol. 14: 82-94, 1966.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5900234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5900234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5900234" 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.1966.00470070086010" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Chen2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chen, S., Peng, G.-H., Wang, X., Smith, A. C., Grote, S. K., Sopher, B. L., La Spada, A. R.
|
|
<strong>Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.</strong>
|
|
Hum. Molec. Genet. 13: 53-67, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14613968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14613968</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14613968" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
|
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[<a href="https://doi.org/10.1093/hmg/ddh005" target="_blank">Full Text</a>]
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|
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|
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|
|
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|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Cooles1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cooles, P., Michaud, R., Best, P. V.
|
|
<strong>A dominantly inherited progressive disease in a black family characterized by cerebellar and retinal degeneration, external ophthalmoplegia and abnormal mitochondria.</strong>
|
|
J. Neurol. Sci. 87: 275-288, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3210038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3210038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3210038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(88)90252-3" target="_blank">Full Text</a>]
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|
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|
|
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|
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|
|
Cruysberg, J. R. M., Eerola, K. U., Vrijland, H. R., Aandekerk, A. L., Kremer, H. P. H., Deutman, A. F.
|
|
<strong>Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy.</strong>
|
|
Am. J. Ophthal. 133: 410-413, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11860984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11860984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11860984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
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|
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[<a href="https://doi.org/10.1016/s0002-9394(01)01333-2" target="_blank">Full Text</a>]
|
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|
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|
|
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|
|
</li>
|
|
|
|
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|
|
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|
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<a id="David1997" class="mim-anchor"></a>
|
|
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|
|
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|
|
David, G., Abbas, N., Stevanin, G., Durr, 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., Mandel, J.-L., Brice, A.
|
|
<strong>Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.</strong>
|
|
Nature Genet. 17: 65-70, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9288099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9288099</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9288099" 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/ng0997-65" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="David1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
David, G., Giunti, P., Abbas, N., Coullin, P., Stevanin, G., Horta, W., Gemmill, R., Weissenbach, J., Wood, N., Cunha, S., Drabkin, H., Harding, A. E., Agid, Y., Brice, A.
|
|
<strong>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.</strong>
|
|
Am. J. Hum. Genet. 59: 1328-1336, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8940279" 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="16" class="mim-anchor"></a>
|
|
<a id="Duinkerke-Eerola1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Duinkerke-Eerola, K. U., Cruysberg, J. R. M., Deutman, A. F.
|
|
<strong>Atrophic maculopathy associated with hereditary ataxia.</strong>
|
|
Am. J. Ophthal. 90: 597-603, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7446640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7446640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7446640" 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/s0002-9394(14)75125-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Enevoldson1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Enevoldson, T. P., Sanders, M. D., Harding, A. E.
|
|
<strong>Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: a clinical and genetic study of eight families.</strong>
|
|
Brain 117: 445-460, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8032856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8032856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8032856" 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/117.3.445" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Foster1962" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Foster, J. B., Ingram, T. T. S.
|
|
<strong>Familial cerebro-macular degeneration and ataxia.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 25: 63-68, 1962.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13894235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13894235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13894235" 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.25.1.63" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Froment1937" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Froment, J., Bonnet, P., Colrat, A.
|
|
<strong>Heredo-degenerations retinienne et spino-cerebelleuse: variantes ophtalmoscopiques et neurologiques presentees par trois generations successives.</strong>
|
|
J. Med. Lyon 153-163, 1937.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Gatchel2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gatchel, J. R., Watase, K., Thaller, C., Carson, J. P., Jafar-Nejad, P., Shaw, C., Zu, T., Orr, H. T., Zoghbi, H. Y.
|
|
<strong>The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 1291-1296, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18216249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18216249</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18216249[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=18216249" 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.0711257105" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Giunti1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Giunti, P., Stevanin, G., Worth, P. F., David, G., Brice, A., Wood, N. W.
|
|
<strong>Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.</strong>
|
|
Am. J. Hum. Genet. 64: 1594-1603, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10330346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10330346</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10330346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/302406" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Gouw1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gouw, L. G., Digre, K. B., Harris, C. P., Haines, J. H., Ptacek, L. J.
|
|
<strong>Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.</strong>
|
|
Neurology 44: 1441-1447, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8058146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8058146</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8058146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.44.8.1441" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Gouw1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gouw, L. G., Kaplan, C. D., Haines, J. H., Digre, K. B., Rutledge, S. L., Matilla, A., Leppert, M., Zoghbi, H. Y., Ptacek, L. J.
|
|
<strong>Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.</strong>
|
|
Nature Genet. 10: 89-93, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647799" 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/ng0595-89" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Greenberg2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Greenberg, J., Solomon, G. A. E., Vorster, A. A., Heckmann, J., Bryer, A.
|
|
<strong>Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. (Letter)</strong>
|
|
Clin. Genet. 70: 415-417, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17026624/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17026624</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17026624" 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.1399-0004.2006.00680.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Gu2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gu, W., Wang, Y., Liu, X., Zhou, B., Zhou, Y., Wang, G.
|
|
<strong>Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds.</strong>
|
|
Arch. Neurol. 57: 1513-1518, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11030806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11030806</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11030806" 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.57.10.1513" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Halsey1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Halsey, J. H., Jr., Scott, T. R., Farmer, T. W.
|
|
<strong>Adult hereditary cerebelloretinal degeneration.</strong>
|
|
Neurology 17: 87-90, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6066676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6066676</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6066676" 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.17.1.87" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Harding1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harding, A. E.
|
|
<strong>The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of 'the Drew family of Walworth.'.</strong>
|
|
Brain 105: 1-28, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7066668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7066668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7066668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/105.1.1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Havener1951" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Havener, W. H.
|
|
<strong>Cerebellar-macular abiotrophy.</strong>
|
|
Arch. Ophthal. 45: 40-43, 1951.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Holmberg1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holmberg, M., Duyckaerts, C., Durr, A., Cancel, G., Gourfinkel-An, I., Damier, P., Faucheux, B., Trottier, Y., Hirsch, E. C., Agid, Y., Brice, A.
|
|
<strong>Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.</strong>
|
|
Hum. Molec. Genet. 7: 913-918, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9536097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9536097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9536097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/7.5.913" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Holmberg1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holmberg, M., Johansson, J., Forsgren, L., Heijbel, J., Sandgren, O., Holmgren, G.
|
|
<strong>Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.</strong>
|
|
Hum. Molec. Genet. 4: 1441-1445, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581386</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/4.8.1441" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Jampel1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jampel, R. S., Okazaki, H., Bernstein, H.
|
|
<strong>Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia.</strong>
|
|
Arch. Ophthal. 66: 247-259, 1961.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13789353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13789353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13789353" 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.1961.00960010249017" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Janer2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Janer, A., Werner, A., Takahashi-Fujigasaki, J., Daret, A., Fujigasaki, H., Takada, K., Duyckaerts, C., Brice, A., Dejean, A., Sittler, A.
|
|
<strong>SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.</strong>
|
|
Hum. Molec. Genet. 19: 181-195, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19843541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19843541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19843541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddp478" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Jonasson2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jonasson, J., Juvonen, V., Sistonen, P., Ignatius, J., Johansson, D., Bjorck, E. J., Wahlstrom, J., Melberg, A., Holmgren, G., Forsgren, L., Holmberg, M.
|
|
<strong>Evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.</strong>
|
|
Europ. J. Hum. Genet. 8: 918-922, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11175279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11175279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11175279" 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/sj.ejhg.5200557" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Koob1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Koob, M. D., Benzow, K. A., Bird, T. D., Day, J. W., Moseley, M. L., Ranum, L. P. W.
|
|
<strong>Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.</strong>
|
|
Nature Genet. 18: 72-75, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425905" 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/ng0198-72" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Krols1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Krols, L., Martin, J.-J., David, G., Van Regemorter, N., Benomar, A., Lofgren, A., Stevanin, G., Durr, A., Brice, A., Van Broeckhoven, C.
|
|
<strong>Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.</strong>
|
|
Hum. Genet. 99: 225-232, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9048926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9048926</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9048926" 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/s004390050344" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="La Spada2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
La Spada, A. R., Fu, Y.-H., Sopher, B. L., Libby, R. T., Wang, X., Li, L. Y., Einum, D. D., Huang, J., Possin, D. E., Smith, A. C., Martinez, R. A., Koszdin, K. L., Treuting, P. M., Ware, C. B., Hurley, J. B., Ptacek, L. J., Chen, S.
|
|
<strong>Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.</strong>
|
|
Neuron 31: 913-927, 2001. Note: Erratum: Neuron 32: 957-958, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11580893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11580893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11580893" 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/s0896-6273(01)00422-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Lindblad1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lindblad, K., Savontaus, M.-L., Stevanin, G., Holmberg, M., Digre, K., Zander, C., Ehrsson, H., David, G., Benomar, A., Nikoskelainen, E., Trottier, Y., Holmgren, G., Ptacek, L. J., Anttinen, A., Brice, A., Schalling, M.
|
|
<strong>An expanded CAG repeat sequence in spinocerebellar ataxia type 7.</strong>
|
|
Genome Res. 6: 965-971, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8908515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8908515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8908515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1101/gr.6.10.965" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Magana2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Magana, J. J., Tapia-Guerrero, Y. S., Velazquez-Perez, L., Cerecedo-Zapata, C. M., Maldonado-Rodriguez, M., Jano-Ito, J. S., Leyva-Garcia, N., Gonzalez-Pina, R., Martinez-Cruz, E., Hernandez-Hernandez, O., Cisneros, B.
|
|
<strong>Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect.</strong>
|
|
Clin. Genet. 85: 159-165, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23368522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23368522</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23368522" 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/cge.12114" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Michalik2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Michalik, A., Martin, J.-J., Van Broeckhoven, C.
|
|
<strong>Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.</strong>
|
|
Europ. J. Hum. Genet. 12: 2-15, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14571264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14571264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14571264" 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/sj.ejhg.5201108" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Mittal2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mittal, U., Roy, S., Jain, S., Srivastava, A. K., Mukerji, M.
|
|
<strong>Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family.</strong>
|
|
J. Hum. Genet. 50: 155-157, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15750685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15750685</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15750685" 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/s10038-005-0233-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Pujana1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pujana, M. A., Corral, J., Gratacos, M., Combarros, O., Berciano, J., Genis, D., Banchs, I., Estivill, X., Volpini, V., Ataxia Study Group.
|
|
<strong>Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases.</strong>
|
|
Hum. Genet. 104: 516-522, 1999. Note: Erratum: Hum. Genet. 105: 376 only, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10453742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10453742</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10453742" 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/s004390050997" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Stevanin1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stevanin, G., Giunti, P., David, G., Belal, S., Durr, A., Ruberg, M., Wood, N., Brice, A.
|
|
<strong>De novo expansion of intermediate alleles in spinocerebellar ataxia 7.</strong>
|
|
Hum. Molec. Genet. 7: 1809-1813, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9736784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9736784</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9736784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/7.11.1809" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Storey2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Storey, E., du Sart, D., Shaw, J. H., Lorentzos, P., Kelly, L., Gardner, R. J. M., Forrest, S. M., Biros, I., Nicholson, G. A.
|
|
<strong>Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia.</strong>
|
|
Am. J. Med. Genet. 95: 351-357, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11186889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11186889</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11186889" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1096-8628(20001211)95:4<351::aid-ajmg10>3.0.co;2-r" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Trottier1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L., Agid, Y., Brice, A., Mandel, J.-L.
|
|
<strong>Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.</strong>
|
|
Nature 378: 403-406, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477379</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/378403a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="van de Warrenburg2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
van de Warrenburg, B. P. C., Hendriks, H., Durr, A., van Zuijlen, M. C. A., Stevanin, G., Camuzat, A., Sinke, R. J., Brice, A., Kremer, B. P. H.
|
|
<strong>Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.</strong>
|
|
Ann. Neurol. 57: 505-512, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15747371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15747371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15747371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.20424" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="van de Warrenburg2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
van de Warrenburg, B. P. C., Notermans, N. C., Schelhaas, H. J., van Alfen, N., Sinke, R. J., Knoers, N. V. A. M., Zwarts, M. J., Kremer, B. P. H.
|
|
<strong>Peripheral nerve involvement in spinocerebellar ataxias.</strong>
|
|
Arch. Neurol. 61: 257-261, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14967775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14967775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14967775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.61.2.257" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Wadia1971" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wadia, N. H., Swami, R. K.
|
|
<strong>A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families).</strong>
|
|
Brain 94: 359-374, 1971.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5571047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5571047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5571047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/94.2.359" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Weiner1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weiner, L. P., Konigsmark, B. W., Stoll, J., Jr., Magladery, J. W.
|
|
<strong>Hereditary olivopontocerebellar atrophy with retinal degeneration: report of a family through six generations.</strong>
|
|
Arch. Neurol. 16: 364-376, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6021917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6021917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6021917" 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.1967.00470220028004" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Woodworth1959" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Woodworth, J. A., Beckett, R. S., Netsky, M. G.
|
|
<strong>A composite of hereditary ataxias: a familial disorder with features of olivopontocerebellar atrophy, Leber's optic atrophy and Friedreich's ataxia.</strong>
|
|
Arch. Intern. Med. 104: 594-606, 1959.
|
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<a id="50" class="mim-anchor"></a>
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<a id="Yoo2003" class="mim-anchor"></a>
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Yoo, S.-Y., Pennesi, M. E., Weeber, E. J., Xu, B., Atkinson, R., Chen, S., Armstrong, D. L., Wu, S. M., Sweatt, J. D., Zoghbi, H. Y.
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<strong>SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.</strong>
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Neuron 37: 383-401, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12575948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12575948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12575948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0896-6273(02)01190-x" target="_blank">Full Text</a>]
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<a id="51" class="mim-anchor"></a>
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<a id="Yvert2000" class="mim-anchor"></a>
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Yvert, G., Lindenberg, K. S., Picaud, S., Landwehrmeyer, G. B., Sahel, J. -A., Mandel, J.-L.
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<strong>Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice.</strong>
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Hum. Molec. Genet. 9: 2491-2506, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11030754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11030754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11030754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.17.2491" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/25/2014
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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George E. Tiller - updated : 11/12/2010<br>Cassandra L. Kniffin - updated : 3/30/2010<br>Patricia A. Hartz - updated : 11/17/2009<br>Cassandra L. Kniffin - updated : 2/26/2008<br>George E. Tiller - updated : 2/5/2008<br>Victor A. McKusick - updated : 9/4/2007<br>George E. Tiller - updated : 3/6/2006<br>Cassandra L. Kniffin - updated : 5/18/2005<br>Cassandra L. Kniffin - updated : 1/4/2005<br>Cassandra L. Kniffin - updated : 5/25/2004<br>Cassandra L. Kniffin - updated : 5/7/2004<br>Cassandra L. Kniffin - updated : 6/25/2003<br>Cassandra L. Kniffin - reorganized : 4/3/2003<br>Cassandra L. Kniffin - updated : 3/21/2003<br>Dawn Watkins-Chow - updated : 11/6/2002<br>George E. Tiller - updated : 6/11/2002<br>Victor A. McKusick - updated : 5/21/2002<br>George E. Tiller - updated : 5/9/2002<br>George E. Tiller - updated : 10/19/2001<br>Michael B. Petersen - updated : 4/16/2001<br>Majed J. Dasouki - updated : 1/30/2001<br>Sonja A. Rasmussen - updated : 1/9/2001<br>Victor A. McKusick - updated : 1/5/2000<br>Victor A. McKusick - updated : 12/6/1999<br>Victor A. McKusick - updated : 10/13/1999<br>Victor A. McKusick - updated : 8/31/1999<br>Victor A. McKusick - updated : 10/16/1998<br>Victor A. McKusick - updated : 12/29/1997<br>Victor A. McKusick - updated : 8/28/1997<br>Victor A. McKusick - updated : 2/11/1997<br>Orest Hurko - updated : 3/7/1996
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 05/23/2016
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alopez : 7/1/2014<br>mcolton : 6/30/2014<br>ckniffin : 6/25/2014<br>carol : 3/14/2013<br>terry : 12/22/2010<br>wwang : 11/22/2010<br>terry : 11/12/2010<br>wwang : 4/6/2010<br>ckniffin : 3/30/2010<br>mgross : 11/17/2009<br>terry : 11/17/2009<br>carol : 9/15/2009<br>wwang : 3/5/2008<br>ckniffin : 2/26/2008<br>wwang : 2/13/2008<br>terry : 2/5/2008<br>terry : 9/14/2007<br>alopez : 9/7/2007<br>terry : 9/4/2007<br>terry : 11/15/2006<br>wwang : 3/6/2006<br>wwang : 6/1/2005<br>wwang : 5/26/2005<br>ckniffin : 5/18/2005<br>tkritzer : 1/13/2005<br>ckniffin : 1/4/2005<br>tkritzer : 11/8/2004<br>tkritzer : 5/27/2004<br>ckniffin : 5/25/2004<br>tkritzer : 5/10/2004<br>ckniffin : 5/7/2004<br>carol : 7/9/2003<br>ckniffin : 7/9/2003<br>ckniffin : 6/25/2003<br>carol : 4/3/2003<br>ckniffin : 3/21/2003<br>carol : 11/7/2002<br>carol : 11/7/2002<br>tkritzer : 11/6/2002<br>tkritzer : 11/6/2002<br>cwells : 6/12/2002<br>cwells : 6/11/2002<br>cwells : 6/11/2002<br>mgross : 6/4/2002<br>terry : 5/21/2002<br>cwells : 5/17/2002<br>cwells : 5/9/2002<br>cwells : 10/30/2001<br>cwells : 10/19/2001<br>cwells : 10/19/2001<br>terry : 5/11/2001<br>terry : 5/10/2001<br>carol : 4/16/2001<br>carol : 2/26/2001<br>carol : 1/30/2001<br>mcapotos : 1/26/2001<br>mcapotos : 1/19/2001<br>mcapotos : 1/16/2001<br>mcapotos : 1/10/2001<br>mcapotos : 1/9/2001<br>alopez : 1/17/2000<br>alopez : 1/14/2000<br>terry : 1/5/2000<br>mgross : 12/10/1999<br>terry : 12/6/1999<br>mgross : 10/15/1999<br>terry : 10/13/1999<br>jlewis : 8/31/1999<br>carol : 2/10/1999<br>carol : 10/21/1998<br>terry : 10/16/1998<br>carol : 5/19/1998<br>terry : 12/29/1997<br>alopez : 12/23/1997<br>terry : 12/23/1997<br>mark : 9/5/1997<br>jenny : 9/1/1997<br>terry : 8/28/1997<br>terry : 2/11/1997<br>terry : 1/16/1997<br>jamie : 1/15/1997<br>terry : 1/8/1997<br>mark : 12/3/1996<br>terry : 11/12/1996<br>terry : 4/15/1996<br>mark : 3/7/1996<br>mark : 3/6/1996<br>terry : 2/23/1996<br>mark : 9/7/1995<br>terry : 6/8/1995<br>mimadm : 12/2/1994<br>carol : 11/22/1994<br>warfield : 3/3/1994<br>supermim : 3/16/1992
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<span class="mim-font">
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<strong>#</strong> 164500
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<h3>
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<span class="mim-font">
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SPINOCEREBELLAR ATAXIA 7; SCA7
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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OLIVOPONTOCEREBELLAR ATROPHY III; OPCA3<br />
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OPCA III<br />
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OPCA WITH RETINAL DEGENERATION<br />
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OPCA WITH MACULAR DEGENERATION AND EXTERNAL OPHTHALMOPLEGIA<br />
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AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, TYPE II<br />
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ADCA, TYPE II
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<strong>SNOMEDCT:</strong> 1156796002, 715726000;
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<strong>ORPHA:</strong> 94147;
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<strong>DO:</strong> 0050958;
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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3p14.1
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<span class="mim-font">
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Spinocerebellar ataxia 7
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<span class="mim-font">
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164500
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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ATXN7
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<span class="mim-font">
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607640
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because spinocerebellar ataxia-7 (SCA7) is caused by a heterozygous expanded trinucleotide repeat in the gene encoding ataxin-7 (ATXN7; 607640) on chromosome 3p14.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>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). </p><p>For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).</p>
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Froment et al. (1937) described a neurologic lesion, which they referred to as spinocerebellar degeneration, in association with retinal degeneration, in 4 affected persons in 3 successive generations. The character of the retinopathy was variable, being peripheral in the first generation, macular in the second, and macular and circumpapillary in the third. Retinal degeneration with cerebellar ataxia in a dominant pedigree pattern was also reported by Bjork et al. (1956). Havener (1951) described macular degeneration with cerebellar ataxia in a 28-year-old black. Cerebellar involvement was much less severe than in a daughter who died at 3 years of age with profound involvement. Jampel et al. (1961) reported spinocerebellar ataxia with external ophthalmoplegia and retinal degeneration in 8 members of a black family (in 4 sibships of 3 generations). Ophthalmoplegia was progressive and appeared to have a supranuclear basis. Ptosis never occurred. Retinal degeneration began in the macular area and progressed to the periphery. Reports of the same syndrome were found in the literature, e.g., Alfano and Berger (1957). In other reports only external ophthalmoplegia or only retinal degeneration was associated with ataxia. </p><p>Foster and Ingram (1962) described a family with at least 7 affected members of 3 generations. Severity varied widely with infant death in at least 1 case and survival to middle age in other affected persons. Weiner et al. (1967) found 27 affected persons in 5 generations of a black family. The proband had a 'peculiar glistening pale area sprinkled with fine pigment granules in the macular region' of each eye. Blurred vision and a periodic slight head tremor were first noted at age 22. Weiner et al. (1967) suggested that the families of Woodworth et al. (1959) and of Carpenter and Schumacher (1966) may have suffered from the same entity. Halsey et al. (1967) found degenerative changes in the retina and cerebellum of 11 persons in 3 generations of a North Carolina black family. Blindness and ataxia were the clinical features. Fundus changes were mainly macular. Onset was usually in middle age although 3 had onset in adolescence. Consanguinity and skipped generations suggest recessive inheritance. However, a high illegitimacy rate in this population could explain the pedigree pattern by accounting for apparently 'skipped' generations with a dominant trait. </p><p>In Finland, Anttinen et al. (1986) observed a family with 9 affected persons. The first symptom was insidious, progressive visual loss caused by macular degeneration. Another early sign was slow saccades (Wadia and Swami, 1971). Gradually progressing cerebellar dysfunction and pyramidal signs developed some years after the visual symptoms. Cerebellar and pontine atrophy was demonstrated by computerized tomography (CT scan). Anttinen et al. (1986) found reports of 20 similar families with 120 affected persons, including families reported by Duinkerke-Eerola et al. (1980) and by Harding (1982). Anttinen et al. (1986) stated a preference for 'macular degeneration' rather than 'retinal degeneration.' (One of the patients described by Duinkerke-Eerola et al. (1980) was restudied by Cruysberg et al. (2002), who concluded that he had a separate neurodegenerative entity characterized by autosomal recessive cerebellar ataxia and progressive macular dystrophy with a bull's eye pattern. The patient did not show CAG trinucleotide repeat expansion in various SCA genes, including ATXN7.) </p><p>Cooles et al. (1988) described a black Dominican family in which a large number of individuals in at least 5 generations had cerebellar and retinal degeneration with morphologically abnormal mitochondria. Cooles et al. (1988) suggested that the clinical picture most closely resembled that of the black families reported by Jampel et al. (1961) and Weiner et al. (1967). Abnormally large mitochondria with irregular cristae were found in muscle biopsy specimens. None of the affected males in this family had offspring. </p><p>Enevoldson et al. (1994) described 8 families segregating autosomal dominant cerebellar ataxia associated with pigmentary macular degeneration. Two-thirds of the 14 patients presented with ataxia, and the other third with visual failure with or without ataxia. Pedigree analysis demonstrated nonmanifesting obligate carriers and anticipation in the offspring of affected fathers. Dysarthria was invariably present early in the disease. Deep tendon reflexes were usually brisk, but extrapyramidal features were rare and were limited to small choreic movements in the distal limbs. Only 1 patient had orofacial dyskinesias. Sphincter control was normal until terminal disease. Saccadic slowing occurred early in the disease and developed into almost complete external ophthalmoparesis. Progressive visual loss occurred in all patients, although in 1 patient it followed the onset of ataxia by 22 years. All 3 children who developed symptoms before the age of 14 months were dead by 22 months. Unlike the adult-onset cases, early-onset cases presented with depressed or absent deep tendon reflexes. Although linkage analysis was not performed on these patients, the authors argued that the macular degeneration and the presence of early onset of fulminant disease after transmission from fathers are distinctive features of this disorder, clearly distinguishing it from spinocerebellar atrophy types I and II. </p><p>Gouw et al. (1995) reported 4 families with SCA and associated retinal degeneration. Two of the kindreds were Caucasian and 2 were African American. The disorder was manifested by early loss of color discrimination in the tritan axis (blue-yellow) followed by loss of vision and progressive ataxia. Index cases presented initially with visual problems and subsequent episodes of instability and incoordination that worsened inexorably. Dysmetria and dysarthria were present on examination, although no extrapyramidal signs or dementia were seen. Tritan colorblindness (190900) is an exceedingly rare dichromatic deficiency; thus it is a highly sensitive and specific symptom seen before the other manifestations in this disease. </p><p>David et al. (1997) noted that SCA7 is the first of the neurodegenerative disorders caused by an expanded trinucleotide repeat in which the degenerative process also affects the retina. In 5 families with 18 affected individuals, the mean age at onset of visual failure was 22 years with a range from 1 to 45 years. Decreased visual acuity occurred in 83%, with blindness in 28%. Optic atrophy was present in 69%; pigmentary retinopathy in 43%; supranuclear ophthalmoplegia in 56%; and viscosity of eye movements in 79%. </p><p>In 19 of 27 (70%) patients with confirmed SCA types 1, 2 (183090), 3 (109150), 6 (183086), or 7, van de Warrenburg et al. (2004) found electrophysiologic evidence of peripheral nerve involvement. Eight patients (30%) had findings compatible with a dying-back axonopathy, whereas 11 patients (40%) had findings consistent with a primary neuronopathy involving dorsal root ganglion and/or anterior horn cells; the 2 types were clinically almost indistinguishable. Two of 4 patients with SCA7 had an axonopathy and 2 had a neuronopathy. </p><p><strong><em>Pathologic Findings</em></strong></p><p>
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Holmberg et al. (1998) performed postmortem brain examination of a 10-year-old boy with genetically confirmed SCA7 (85 CAG repeats). Neuronal intranuclear inclusions, identified by an antibody directed against the expanded polyglutamine domain, were identified in multiple areas of the brain. Inclusions were most frequent in the inferior olivary complex, a site of severe neuronal loss in SCA7, the lateral geniculate body, and the substantia nigra, but were also present in other brain regions, including the cerebral cortex which is not considered to be affected in the disease. Some cytoplasmic staining was also identified. Some inclusions stained positively for ubiquitin, but the degree was highly variable. Holmberg et al. (1998) noted that nuclear inclusions are a common feature of polyglutamine disorders. </p><p>Michalik et al. (2004) presented a detailed clinical, pathologic, and molecular review of SCA7. </p><p>Ansorge et al. (2004) reported an infant with SCA7 and 180 CAG repeats in the ATXN7 gene. Signs and symptoms appeared at 9 months of age with developmental delay, failure to thrive, and limb tremor. Retinal pigmentary degeneration, nystagmus, hypotonia, and cerebellar ataxia were present by 19 months, and the patient died at 29 months. Postmortem examination showed severe olivopontocerebellar atrophy and thinning of the spinal cord. Ataxin-7 nuclear inclusions were seen throughout the nervous system; however, inclusions were not always associated with neuronal loss, as was particularly evident in the hippocampus. Nuclear inclusions were also present in endothelial cells, cardiac and skeletal muscle, pancreas, and epithelial cells of Brunner glands in the duodenum. In contrast to neuronal inclusions, nonneuronal inclusions did not stain with ubiquitin. Ansorge et al. (2004) discussed differential ubiquitination of aggregates and the effect on cell survival. </p>
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<strong>Diagnosis</strong>
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<p>Koob et al. (1998) described a novel procedure for quick isolation of expanded trinucleotide repeats and the corresponding flanking nucleotide sequence directly from small amounts of genomic DNA by a process called Repeat Analysis, Pooled Isolation, and Detection (RAPID cloning) of individual clones containing expanded trinucleotide repeats. They used this technique to clone the pathogenic SCA7 CAG expansion from an archived DNA sample from an individual affected with ataxia and retinal degeneration. </p>
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<strong>Mapping</strong>
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<p>Gouw et al. (1994) excluded linkage to SCA1 (164400) and SCA2 (183090) in a 4-generation pedigree segregating retinal degeneration, cerebellar ataxia, slow saccades, ophthalmoparesis, and pyramidal dysfunction. Autopsy of the proband showed degeneration of cerebellum, basis pontis, inferior olive, and retinal ganglion cells. Gouw et al. (1994) concluded that OPCA III is genetically distinct from SCA1 and SCA2. </p><p>Benomar et al. (1995) mapped the gene for this disorder to 3p21.1-p12. No genetic heterogeneity was found among the 4 Moroccan, Belgian, and French families studied. Multipoint analysis identified a candidate interval of 8-cM around D3S1285. Gouw et al. (1995) mapped the disorder to 3p21.1-p14 in 4 families. Holmberg et al. (1995) found linkage to microsatellite markers on 3p21.1-p12 in a Swedish family with ataxia, dysarthria, and severely impaired vision in an autosomal dominant pedigree pattern. </p><p>David et al. (1996) investigated 2 families with the disorder that they referred to as ADCA type II. Linkage analysis of these families of different geographic origins (one from Brazil and the other from the UK) confirmed the genetic homogeneity of ADCA type II, distinguishing it from ADCA type I. They mapped the gene to a 5-cM region on 3p13-p12. In contrast to the genetic homogeneity, considerable clinical heterogeneity was demonstrated by variability in age at onset, initial symptoms, and associated signs. Krols et al. (1997) refined the assignment of the SCA7 locus on 3p. </p>
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<strong>Inheritance</strong>
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<p>SCA7 is an autosomal dominant disorder. Gonadal instability is pronounced and is associated with paternal transmission (David et al., 1997). </p><p>Mittal et al. (2005) reported an Indian patient with SCA7 confirmed by genetic analysis. There was no family history of the disorder. Genetic analysis identified a de novo expansion of 59 CAG repeats on the paternal allele of the ATXN7 gene. His unaffected father had an expansion in the intermediate range, with 31 repeats. Analysis of the father's sperm sample did not show gonadal mosaicism, suggesting that the expansion was postzygotic. </p>
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<strong>Molecular Genetics</strong>
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<p>Using a monoclonal antibody that recognizes expanded polyglutamine stretches in TATA box-binding protein (600075), expanded huntingtin (613004), expanded ataxin-1 (601556), and 3 expanded proteins from individuals affected with SCA3 (109150), Trottier et al. (1995) demonstrated a 130-kD protein in 2 unrelated patients with SCA7. By analogy with other triplet repeat disorders, the authors suggested that this was the protein encoded by the gene whose mutation causes this disorder. </p><p>Using repeat expansion detection (RED), a method in which a thermolabile ligase is used to detect repeat expansions directly from genomic DNA, Lindblad et al. (1996) analyzed 8 SCA7 families for the presence of (CAG)n repeat expansion. RED products of 150 to 240 bp were found in all affected individuals and were found to cosegregate with the disease, suggesting strongly that a (CAG)n expansion is the cause of SCA7. On the basis of a previously established correlation between RED product sizes and actual repeat sizes in Machado-Joseph disease (109150), they were able to estimate the average expansion size in SCA7 to be 64 CAG copies. </p><p>In 18 patients from 5 families with SCA7, David et al. (1997) identified expanded CAG repeats in the ATXN7 gene (607640.0001). CAG repeat size was highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranged from 7 to 17 repeats. Gonadal instability in SCA7 was greater than that observed in any of the known neurodegenerative disorders caused by translated CAG repeat expansions, and the instability was particularly striking on paternal transmission. </p><p><strong><em>Genetic Anticipation</em></strong></p><p>
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Gouw et al. (1995) found genetic anticipation in one family with the disorder. Two affected members of generation II first noted mild symptoms at ages 52 and 53; in generation III, onset of symptoms was between ages 31 and 49 with more marked phenotype; in generation IV, 2 members were reported ataxic at birth, both dying within 2 years; other members of generation IV were affected between the ages of 14 and 34 with earlier onset corresponding to more rapid progression to severe disease. Notably, no affected children in any of the 4 kindreds had age of onset later than their parents. </p><p>Holmberg et al. (1995) reported a 5-generation Swedish family with the disorder descended from a couple born in the latter part of the 19th century in the Province of Vasterbotten in northern Sweden. DNA was studied from 9 patients in 3 generations alive at the beginning of the study, as well as from 2 deceased patients. The family showed anticipation resulting in infantile onset in the latest generation with severe and rapid course of disease; earlier generations had onset in the fourth or fifth decade with relatively slow progression. </p><p>Analysis of 23 affected parent-child pairs by David et al. (1996) demonstrated marked anticipation that was greater in paternal than in maternal transmissions and a more rapid clinical course in successive generations. </p><p>Stevanin et al. (1998) stated that normal ATXN7 alleles carry from 4 to 35 CAG repeats, whereas pathologic alleles carry from 37 to approximately 200. Intermediate ATXN7 alleles, with 28 to 35 repeats, are exceedingly rare in the general population and are not associated with the SCA7 phenotype, although they were found among relatives of 4 SCA7 patients. In 2 such families, intermediate alleles bearing 35 and 28 CAG repeats gave rise, during paternal transmission, to ATXN7 expansions of 57 and 47 repeats, respectively, that were confirmed by haplotype reconstructions in one case and by inference in the other. Furthermore, in these and 2 other families in which relatives had intermediate alleles, the 4 haplotypes segregating with the intermediate alleles were identical to the expanded alleles in each family, but differed among the families, indicating multiple origins of the ATXN7 mutation in these families with different geographic origins. The results provided the first evidence of de novo ATXN7 expansions from intermediate alleles that are not associated with the phenotype but can expand to the pathologic range during some paternal transmissions. Intermediate alleles that segregate in unaffected branches of the pedigrees may, therefore, constitute a reservoir for future de novo mutations that occur in a recurrent but random manner. This would explain the persistence of the disorder in spite of the great anticipation (approximately 20 years per generation) characteristic of SCA7. Previously, de novo expansions among the disorders caused by translated CAG repeat expansion (polyglutamine repeat) have been demonstrated only in Huntington disease. </p><p>In Spain, the Ataxia Study Group (Pujana et al., 1999) found that it was in a family with SCA7 that the highest CAG repeat variation in meiotic transmission of expanded alleles was detected, this being an expansion of 67 units in 1 paternal transmission, giving rise to a 113 CAG repeat allele in a patient who died at 3 years of age. Analysis of CAG repeat variation in meiosis also showed a tendency to more frequent paternal transmission of expanded alleles in SCA1 (164400) and SCA7. </p><p>Giunti et al. (1999) found the SCA7 mutation in 54 patients and 7 at-risk subjects from 17 families who had autosomal dominant cerebellar ataxia with progressive pigmentary maculopathy. Haplotype reconstruction through 3 generations of 1 family confirmed a de novo mutation owing to paternal meiotic instability. Different disease-associated haplotypes segregated among the SCA7-positive kindreds, which indicated a multiple origin of the mutation. One family with a clinical phenotype did not have the CAG expansion, thus indicating locus heterogeneity. Distribution of the repeat size in 944 independent normal chromosomes from controls, unaffected at-risk subjects, and one affected individual fell into 2 ranges; most of the alleles were in the range of 7 to 19 CAG repeats. A second range could be identified with 28 to 35 repeats, and Giunti et al. (1999) provided evidence that these repeats represent intermediate alleles that are prone to further expansion. The repeat size of the pathologic allele, said to be the widest reported for any CAG-repeat disorder, ranged from 37 to approximately 220. The repeat size showed negative correlation with both age at onset and age at death. The most frequently associated features in patients with SCA7 were pigmentary maculopathy, pyramidal tract involvement, and slow saccades. The subjects with repeat numbers less than 49 tended to have a less complicated neurologic phenotype and a longer disease duration, whereas the converse applied to subjects with 49 repeats or more. The degree of instability during meiotic transmission was greater than in all other CAG-repeat disorders and was particularly striking in paternal transmission, in which a median increase in repeat size of 6 and an interquartile range of 12 was observed, versus a median increase of 3 and interquartile range of 3.5 in maternal transmission. </p><p>Gu et al. (2000) evaluated 4 Chinese kindreds with autosomal dominant cerebellar ataxia and decreased visual acuity for mutations in the ATXN7 gene. A mutation was identified in 2 families which showed great variation in age of onset, initial symptoms, and associated signs. Marked inter- and intrafamilial clinical variability was manifest. Analysis of 11 parent-child couples demonstrated the existence of marked anticipation. The CAG repeats ranged from 44 to 85, with strong negative correlation between repeat size and age of onset. Repeat length of expanded alleles showed somatic mosaicism in leukocyte DNA. </p><p>Van de Warrenburg et al. (2005) applied statistical analysis to examine the relationship between age at onset and number of expanded triplet repeats from a Dutch-French cohort of 802 patients with SCA1 (138 patients), SCA2 (166 patients), SCA3 (342 patients), SCA6 (53 patients), and SCA7 (103 patients). The size of the expanded repeat explained 66 to 75% of the variance in age at onset for SCA1, SCA2, and SCA7, but less than 50% for SCA3 and SCA6. The relation between age at onset and CAG repeat was similar for all groups except for SCA2, suggesting that the polyglutamine repeat in the ataxin-2 protein exerts its pathologic effect in a different way. A contribution of the nonexpanded allele to age at onset was observed for only SCA1 and SCA6. Van de Warrenburg et al. (2005) acknowledged that their results were purely mathematical, but suggested that they reflected biologic variations among the diseases. </p>
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<h4>
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<strong>Population Genetics</strong>
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<span class="mim-text-font">
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<p>Storey et al. (2000) examined the frequency of mutations for SCA types 1, 2, 3, 6, and 7 in southeastern Australia. Of 63 pedigrees or individuals with positive tests, 30% had SCA1, 15% had SCA2, 22% had SCA3, 30% had SCA6, and 3% had SCA7. Ethnic origin was of importance in determining SCA type: 4 of 9 SCA2 index cases were of Italian origin, and 4 of 14 SCA3 index cases were of Chinese origin. </p><p>Whereas SCA7 is considered to be one of the most rare forms of genetically verified autosomal dominant cerebellar ataxia, Jonasson et al. (2000) found it to be the most frequent subtype in Sweden and Finland in a survey of hereditary ataxias in Scandinavia. They identified SCA7 in 8 Swedish and 7 Finnish families but found no affected Norwegian or Danish families. All 37 affected patients displayed expanded CAG repeats, and 9 clinically unaffected relatives also showed CAG expansions ranging from 38 to 53 repeats. Two carriers with 39 and 40 CAG repeats were still healthy at ages 68 and 85, respectively, and 1 individual with 39 CAG repeats presented with symptoms as late as age 74. Haplotype analysis using 9 microsatellite markers and 1 intragenic polymorphism covering a 10.2-cM region of chromosome 3p containing the ATXN7 gene showed that all 15 Swedish/Finnish families shared a common haplotype for the intragenic polymorphism and the centromeric markers D3S1287 and D3S1228, covering more than 1.9 cM of the ATXN7 gene region. Larger haplotypes were shared by families within a geographic region than by families from different geographic regions within the 2 countries. Linkage disequilibrium calculations were highly significant for the segregation of 1 haplotype on disease-bearing chromosomes, providing evidence for a strong founder effect for SCA7 in Scandinavia. </p><p>In South Africa, spinocerebellar ataxia type 7 occurs exclusively in indigenous Black African patients and seems to have a higher incidence in South Africa compared with the rest of the world (Bryer et al., 2003). Greenberg et al. (2006) performed haplotype studies in 13 SCA7 families from the indigenous Black African population and found a probable SCA7 founder effect. Most of the 13 Black SCA7 families originated in different geographic regions of South Africa. Greenberg et al. (2006) suggested an alternative hypothesis, namely that the area centromeric to the SCA7 mutation harbors a susceptibility factor rendering the SCA7 locus unstable and at risk for repeated expansion to premutation and mutation states. </p><p>Magana et al. (2014) used a PCR-based method to screen 10 families with late-onset cerebellar ataxia from the Veracruz state of Mexico for SCA1, SCA2, SCA3, SCA6, and SCA7 mutations. Eight of the 10 families were determined to have SCA7 and 2 had SCA2. The 8 SCA7 families comprised 55 affected individuals, most of whom came from 1 very large 6-generation family. Expanded pathogenic ataxin-7 alleles ranged from 34 to 72 CAG repeats. The patients had typical symptomatology of their respective diseases. The findings indicated a high prevalence of SCA7 (85.94%) among all forms of SCA in this Mexican population, consistent with a founder effect. </p>
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<strong>Animal Model</strong>
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<p>By using constructs with tissue-specific promoters, Yvert et al. (2000) generated transgenic mice that expressed mutant human ataxin-7 in either Purkinje cells or retinal rod photoreceptors. Mice overexpressing full-length mutant ataxin-7(Q90) either in Purkinje cells or in rod photoreceptors had deficiencies in motor coordination and vision, respectively. In both models, an N-terminal fragment of mutant ataxin-7 accumulated within ubiquitinated nuclear inclusions that recruited a distinct set of chaperone/proteasome subunits. A severe degeneration was caused by overexpression of ataxin-7(Q90) in rods, whereas a similar overexpression of normal ataxin-7(Q10) had no obvious effect. The degenerative process was not limited to photoreceptors, and secondary alterations were seen in postsynaptic neurons. The authors suggested that proteolytic cleavage of mutant ataxin-7 and transneuronal responses are implicated in the pathogenesis of SCA7. </p><p>To study the mechanism of polyglutamine neurotoxicity in SCA7, La Spada et al. (2001) generated a transgenic mouse model of SCA7 that expressed ataxin-7 with 92 glutamines in the CNS and retina. They observed a cone-rod dystrophy type of retinal degeneration. Using yeast 2-hybrid studies, La Spada et al. (2001) demonstrated that ataxin-7 interacts with CRX (602225), a nuclear transcription factor predominantly expressed in retinal photoreceptor cells. Mutations in the CRX gene cause cone-rod dystrophy-2 (120970) in humans. Coimmunoprecipitation experiments colocalized ataxin-7 with CRX in nuclear aggregates. Using a rhodopsin promoter-reporter construct, La Spada et al. (2001) observed that polyglutamine-expanded ataxin-7 suppressed CRX transactivation. With electrophoretic mobility shift assays and RT-PCR analysis, they observed a reduction in CRX binding activity and reductions in CRX-regulated genes in SCA7 transgenic retinas. The data suggested that the SCA7 transgenic mice faithfully recapitulated the process of retinal degeneration observed in human SCA7 patients. The authors hypothesized that ataxin-7-mediated transcription interference of photoreceptor-specific genes may account for the retinal degeneration in SCA7, and thus may provide an explanation for how cell-type specificity is achieved in this polyglutamine repeat disorder. By coimmunoprecipitation analysis of CRX and ATXN7 truncation and point mutants, Chen et al. (2004) determined that the ATXN7-interacting domain of CRX localized to its glutamine-rich region and that the CRX-interacting domain of ATXN7 localized to its glutamine tract. Nuclear localization of ataxin-7 was required to repress Crx transactivation, and the likely nuclear localization signals were mapped to the C-terminal region of ataxin-7. Using chromatin immunoprecipitation, the authors showed that both Crx and ataxin-7 occupied the promoter and enhancer regions of Crx-regulated retinal genes in vivo. Chen et al. (2004) suggested that one mechanism of SCA7 disease pathogenesis may be transcription dysregulation, and that CRX transcription interference may be a predominant factor in SCA7 cone-rod dystrophy retinal degeneration. </p><p>Yoo et al. (2003) generated a transgenic mouse model of severe infantile SCA7 with 266 CAG repeats. At 5 weeks of age, the mice demonstrated progressive weight loss, ptosis, ataxia, muscle wasting, kyphosis, and tremor. Electroretinogram (ERG) studies showed cone and rod photoreceptor defects, and there was progressive shortening of the outer segments of the retina with accumulation of mutant ataxin-7. Mutant ataxin-7 accumulated in various neuronal subtypes throughout the brain, suggesting that polyglutamine expansion stabilizes mutant ataxin-7. The authors suggested that accumulation of the mutant protein may cause downstream molecular events that hinder cell function and survival. </p><p>Bowman et al. (2005) assessed the ubiquitin-proteasome system (UPS) using transgenic mice with 266 CAG repeats and a ubiquitin (191339) reporter gene. Reporter levels were low during the initial phase of disease, suggesting that neuronal dysfunction occurs in the presence of a functional UPS. Late in disease, there was a significant increase in reporter levels specific to the most vulnerable neurons, resulting from increase in ubiquitin reporter mRNA. No evidence for general UPS impairment or reduction of proteasome activity was seen. The differential increase of ubiquitin reporter among individual neurons directly correlated with the downregulation of a marker of selective pathology and neuronal dysfunction in SCA7. There was an inverse correlation between the neuropathology revealed by the reporter and ataxin-7 nuclear inclusions in the vulnerable neurons. Bowman et al. (2005) proposed a protective role for polyglutamine nuclear inclusions against neuronal dysfunction and excluded significant impairment of the UPS in polyglutamine neuropathology. </p><p>Using gene profiling and other techniques, Abou-Sleymane et al. (2006) showed that polyQ expansion caused retinal degeneration in animal models of Huntington disease (HD; 143100) and SCA7 by downregulating a large cohort of genes involved in phototransduction function and morphogenesis of differentiated rod photoreceptors and in rod photoreceptor differentiation. Transcription factors that inhibit photoreceptor differentiation were also aberrantly reactivated. </p><p>Using microarray analysis of the cerebellum in mouse models of SCA1 and SCA7, Gatchel et al. (2008) found that both disorders were associated with significant downregulation of Igfbp5 (146734) in the granular cell layer. Further analysis showed additional misregulation in both models, including activation of the IGF pathway and the Igf1 receptor (IGF1R; 147370) in Purkinje cells. </p><p>Janer et al. (2010) identified ATXN7 as target for sumoylation in vitro and in vivo. Sumoylation did not influence the subcellular localization of ATXN7 nor its interaction with components of the TFTC/STAGA complex. Expansion of the polyglutamine stretch did not impair the sumoylation of ATXN7. SUMO1 (601912) and SUMO2 (603042) colocalized with ATXN7 in a subset of neuronal intranuclear inclusions in the brain of SCA7 patients and Atxn7 knockin mice. In a COS-7 cellular model of SCA7, there were 2 populations of extranuclear inclusions: homogeneous and nonhomogeneous. Nonhomogeneous inclusions showed significantly reduced colocalization with SUMO1 and SUMO2, but were highly enriched in Hsp70 (HSPA1A; 140550), 19S proteasome, and ubiquitin. These were characterized by increased staining with the apoptotic marker caspase-3 (CASP3; 600636) and by disruption of PML nuclear bodies. Preventing the sumoylation of expanded ATXN7 by mutating the SUMO site increased both the amount of SDS-insoluble aggregates and of CASP3-positive nonhomogeneous inclusions, which are toxic to the cells. Janer et al. (2010) concluded that sumoylation influences the multistep aggregation process of ATXN7, and they implicated a role for ATXN7 sumoylation in SCA7 pathogenesis. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Abou-Sleymane, G., Chalmel, F., Helmlinger, D., Lardenois, A., Thibault, C., Weber. C., Merienne, K., Mandel, J.-L., Poch, O., Devys, D., Trottier, Y.
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<strong>Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program.</strong>
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Hum. Molec. Genet. 15: 691-703, 2006.
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[PubMed: 16434483]
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[Full Text: https://doi.org/10.1093/hmg/ddi483]
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Alfano, J. E., Berger, J. P.
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<strong>Retinitis pigmentosa, ophthalmoplegia, and spastic quadriplegia.</strong>
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Am. J. Ophthal. 43: 231-240, 1957.
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[PubMed: 13394671]
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[Full Text: https://doi.org/10.1016/0002-9394(57)92915-x]
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Ansorge, O., Giunti, P., Michalik, A., Van Broeckhoven, C., Harding, B., Wood, N., Scaravilli, F.
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<strong>Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats.</strong>
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Ann. Neurol. 56: 448-452, 2004.
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[PubMed: 15349877]
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[Full Text: https://doi.org/10.1002/ana.20230]
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|
|
Anttinen, A., Nikoskelainen, E., Marttila, R. J., Grenman, R., Falck, B., Aarnisalo, E., Kalimo, H.
|
|
<strong>Familial olivopontocerebellar atrophy with macular degeneration: a separate entity among the olivopontocerebellar atrophies.</strong>
|
|
Acta Neurol. Scand. 73: 180-190, 1986.
|
|
|
|
|
|
[PubMed: 3705927]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1600-0404.1986.tb03261.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benomar, A., Krols, L., Stevanin, G., Cancel, G., LeGuern, E., David, G., Ouhabi, H., Martin, J.-J., Durr, A., Zaim, A., Ravise, N., Busque, C., Penet, C., Van Regemorter, N., Weissenbach, J., Yahyaoui, M., Chkili, T., Agid, Y., Van Broeckhoven, C., Brice, A.
|
|
<strong>The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.</strong>
|
|
Nature Genet. 10: 84-88, 1995.
|
|
|
|
|
|
[PubMed: 7647798]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0595-84]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benomar, A., Le Guern, E., Durr, A., Ouhabi, H., Stevanin, G., Yahyaoui, M., Chkili, T., Agid, Y., Brice, A.
|
|
<strong>Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.</strong>
|
|
Ann. Neurol. 35: 439-444, 1994.
|
|
|
|
|
|
[PubMed: 8154871]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410350411]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bjork, A., Lindblom, U., Wadensten, L.
|
|
<strong>Retinal degeneration in hereditary ataxia.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 19: 186-193, 1956.
|
|
|
|
|
|
[PubMed: 13357958]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.19.3.186]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bowman, A. B., Yoo, S.-Y., Dantuma, N. P., Zoghbi, H. Y.
|
|
<strong>Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation.</strong>
|
|
Hum. Molec. Genet. 14: 679-691, 2005.
|
|
|
|
|
|
[PubMed: 15661755]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddi064]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bryer, A., Krause, A., Bill, P., Davids, V., Bryant, D., Butler, J., Heckmann, J., Ramesar, R., Greenberg, J.
|
|
<strong>The hereditary adult-onset ataxias in South Africa.</strong>
|
|
J. Neurol. Sci. 216: 47-54, 2003.
|
|
|
|
|
|
[PubMed: 14607302]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-510x(03)00209-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carpenter, S., Schumacher, G. A.
|
|
<strong>Familial infantile cerebellar atrophy associated with retinal degeneration.</strong>
|
|
Arch. Neurol. 14: 82-94, 1966.
|
|
|
|
|
|
[PubMed: 5900234]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1966.00470070086010]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, S., Peng, G.-H., Wang, X., Smith, A. C., Grote, S. K., Sopher, B. L., La Spada, A. R.
|
|
<strong>Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.</strong>
|
|
Hum. Molec. Genet. 13: 53-67, 2004.
|
|
|
|
|
|
[PubMed: 14613968]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddh005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cooles, P., Michaud, R., Best, P. V.
|
|
<strong>A dominantly inherited progressive disease in a black family characterized by cerebellar and retinal degeneration, external ophthalmoplegia and abnormal mitochondria.</strong>
|
|
J. Neurol. Sci. 87: 275-288, 1988.
|
|
|
|
|
|
[PubMed: 3210038]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0022-510x(88)90252-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cruysberg, J. R. M., Eerola, K. U., Vrijland, H. R., Aandekerk, A. L., Kremer, H. P. H., Deutman, A. F.
|
|
<strong>Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy.</strong>
|
|
Am. J. Ophthal. 133: 410-413, 2002.
|
|
|
|
|
|
[PubMed: 11860984]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0002-9394(01)01333-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
David, G., Abbas, N., Stevanin, G., Durr, 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., Mandel, J.-L., Brice, A.
|
|
<strong>Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.</strong>
|
|
Nature Genet. 17: 65-70, 1997.
|
|
|
|
|
|
[PubMed: 9288099]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0997-65]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
David, G., Giunti, P., Abbas, N., Coullin, P., Stevanin, G., Horta, W., Gemmill, R., Weissenbach, J., Wood, N., Cunha, S., Drabkin, H., Harding, A. E., Agid, Y., Brice, A.
|
|
<strong>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.</strong>
|
|
Am. J. Hum. Genet. 59: 1328-1336, 1996.
|
|
|
|
|
|
[PubMed: 8940279]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Duinkerke-Eerola, K. U., Cruysberg, J. R. M., Deutman, A. F.
|
|
<strong>Atrophic maculopathy associated with hereditary ataxia.</strong>
|
|
Am. J. Ophthal. 90: 597-603, 1980.
|
|
|
|
|
|
[PubMed: 7446640]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0002-9394(14)75125-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Enevoldson, T. P., Sanders, M. D., Harding, A. E.
|
|
<strong>Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: a clinical and genetic study of eight families.</strong>
|
|
Brain 117: 445-460, 1994.
|
|
|
|
|
|
[PubMed: 8032856]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/117.3.445]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Foster, J. B., Ingram, T. T. S.
|
|
<strong>Familial cerebro-macular degeneration and ataxia.</strong>
|
|
J. Neurol. Neurosurg. Psychiat. 25: 63-68, 1962.
|
|
|
|
|
|
[PubMed: 13894235]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jnnp.25.1.63]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Froment, J., Bonnet, P., Colrat, A.
|
|
<strong>Heredo-degenerations retinienne et spino-cerebelleuse: variantes ophtalmoscopiques et neurologiques presentees par trois generations successives.</strong>
|
|
J. Med. Lyon 153-163, 1937.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gatchel, J. R., Watase, K., Thaller, C., Carson, J. P., Jafar-Nejad, P., Shaw, C., Zu, T., Orr, H. T., Zoghbi, H. Y.
|
|
<strong>The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 1291-1296, 2008.
|
|
|
|
|
|
[PubMed: 18216249]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0711257105]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Giunti, P., Stevanin, G., Worth, P. F., David, G., Brice, A., Wood, N. W.
|
|
<strong>Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.</strong>
|
|
Am. J. Hum. Genet. 64: 1594-1603, 1999.
|
|
|
|
|
|
[PubMed: 10330346]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302406]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gouw, L. G., Digre, K. B., Harris, C. P., Haines, J. H., Ptacek, L. J.
|
|
<strong>Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.</strong>
|
|
Neurology 44: 1441-1447, 1994.
|
|
|
|
|
|
[PubMed: 8058146]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.44.8.1441]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gouw, L. G., Kaplan, C. D., Haines, J. H., Digre, K. B., Rutledge, S. L., Matilla, A., Leppert, M., Zoghbi, H. Y., Ptacek, L. J.
|
|
<strong>Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.</strong>
|
|
Nature Genet. 10: 89-93, 1995.
|
|
|
|
|
|
[PubMed: 7647799]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0595-89]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Greenberg, J., Solomon, G. A. E., Vorster, A. A., Heckmann, J., Bryer, A.
|
|
<strong>Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. (Letter)</strong>
|
|
Clin. Genet. 70: 415-417, 2006.
|
|
|
|
|
|
[PubMed: 17026624]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00680.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gu, W., Wang, Y., Liu, X., Zhou, B., Zhou, Y., Wang, G.
|
|
<strong>Molecular and clinical study of spinocerebellar ataxia type 7 in Chinese kindreds.</strong>
|
|
Arch. Neurol. 57: 1513-1518, 2000.
|
|
|
|
|
|
[PubMed: 11030806]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.57.10.1513]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Halsey, J. H., Jr., Scott, T. R., Farmer, T. W.
|
|
<strong>Adult hereditary cerebelloretinal degeneration.</strong>
|
|
Neurology 17: 87-90, 1967.
|
|
|
|
|
|
[PubMed: 6066676]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.17.1.87]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harding, A. E.
|
|
<strong>The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of 'the Drew family of Walworth.'.</strong>
|
|
Brain 105: 1-28, 1982.
|
|
|
|
|
|
[PubMed: 7066668]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/105.1.1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Havener, W. H.
|
|
<strong>Cerebellar-macular abiotrophy.</strong>
|
|
Arch. Ophthal. 45: 40-43, 1951.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holmberg, M., Duyckaerts, C., Durr, A., Cancel, G., Gourfinkel-An, I., Damier, P., Faucheux, B., Trottier, Y., Hirsch, E. C., Agid, Y., Brice, A.
|
|
<strong>Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.</strong>
|
|
Hum. Molec. Genet. 7: 913-918, 1998.
|
|
|
|
|
|
[PubMed: 9536097]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/7.5.913]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holmberg, M., Johansson, J., Forsgren, L., Heijbel, J., Sandgren, O., Holmgren, G.
|
|
<strong>Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.</strong>
|
|
Hum. Molec. Genet. 4: 1441-1445, 1995.
|
|
|
|
|
|
[PubMed: 7581386]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/4.8.1441]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jampel, R. S., Okazaki, H., Bernstein, H.
|
|
<strong>Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia.</strong>
|
|
Arch. Ophthal. 66: 247-259, 1961.
|
|
|
|
|
|
[PubMed: 13789353]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1961.00960010249017]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Janer, A., Werner, A., Takahashi-Fujigasaki, J., Daret, A., Fujigasaki, H., Takada, K., Duyckaerts, C., Brice, A., Dejean, A., Sittler, A.
|
|
<strong>SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.</strong>
|
|
Hum. Molec. Genet. 19: 181-195, 2010.
|
|
|
|
|
|
[PubMed: 19843541]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddp478]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jonasson, J., Juvonen, V., Sistonen, P., Ignatius, J., Johansson, D., Bjorck, E. J., Wahlstrom, J., Melberg, A., Holmgren, G., Forsgren, L., Holmberg, M.
|
|
<strong>Evidence for a common spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.</strong>
|
|
Europ. J. Hum. Genet. 8: 918-922, 2000.
|
|
|
|
|
|
[PubMed: 11175279]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200557]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Koob, M. D., Benzow, K. A., Bird, T. D., Day, J. W., Moseley, M. L., Ranum, L. P. W.
|
|
<strong>Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.</strong>
|
|
Nature Genet. 18: 72-75, 1998.
|
|
|
|
|
|
[PubMed: 9425905]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0198-72]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Krols, L., Martin, J.-J., David, G., Van Regemorter, N., Benomar, A., Lofgren, A., Stevanin, G., Durr, A., Brice, A., Van Broeckhoven, C.
|
|
<strong>Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.</strong>
|
|
Hum. Genet. 99: 225-232, 1997.
|
|
|
|
|
|
[PubMed: 9048926]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390050344]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
La Spada, A. R., Fu, Y.-H., Sopher, B. L., Libby, R. T., Wang, X., Li, L. Y., Einum, D. D., Huang, J., Possin, D. E., Smith, A. C., Martinez, R. A., Koszdin, K. L., Treuting, P. M., Ware, C. B., Hurley, J. B., Ptacek, L. J., Chen, S.
|
|
<strong>Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.</strong>
|
|
Neuron 31: 913-927, 2001. Note: Erratum: Neuron 32: 957-958, 2001.
|
|
|
|
|
|
[PubMed: 11580893]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0896-6273(01)00422-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lindblad, K., Savontaus, M.-L., Stevanin, G., Holmberg, M., Digre, K., Zander, C., Ehrsson, H., David, G., Benomar, A., Nikoskelainen, E., Trottier, Y., Holmgren, G., Ptacek, L. J., Anttinen, A., Brice, A., Schalling, M.
|
|
<strong>An expanded CAG repeat sequence in spinocerebellar ataxia type 7.</strong>
|
|
Genome Res. 6: 965-971, 1996.
|
|
|
|
|
|
[PubMed: 8908515]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1101/gr.6.10.965]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Magana, J. J., Tapia-Guerrero, Y. S., Velazquez-Perez, L., Cerecedo-Zapata, C. M., Maldonado-Rodriguez, M., Jano-Ito, J. S., Leyva-Garcia, N., Gonzalez-Pina, R., Martinez-Cruz, E., Hernandez-Hernandez, O., Cisneros, B.
|
|
<strong>Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect.</strong>
|
|
Clin. Genet. 85: 159-165, 2014.
|
|
|
|
|
|
[PubMed: 23368522]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/cge.12114]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Michalik, A., Martin, J.-J., Van Broeckhoven, C.
|
|
<strong>Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.</strong>
|
|
Europ. J. Hum. Genet. 12: 2-15, 2004.
|
|
|
|
|
|
[PubMed: 14571264]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5201108]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mittal, U., Roy, S., Jain, S., Srivastava, A. K., Mukerji, M.
|
|
<strong>Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family.</strong>
|
|
J. Hum. Genet. 50: 155-157, 2005.
|
|
|
|
|
|
[PubMed: 15750685]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s10038-005-0233-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pujana, M. A., Corral, J., Gratacos, M., Combarros, O., Berciano, J., Genis, D., Banchs, I., Estivill, X., Volpini, V., Ataxia Study Group.
|
|
<strong>Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases.</strong>
|
|
Hum. Genet. 104: 516-522, 1999. Note: Erratum: Hum. Genet. 105: 376 only, 1999.
|
|
|
|
|
|
[PubMed: 10453742]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390050997]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stevanin, G., Giunti, P., David, G., Belal, S., Durr, A., Ruberg, M., Wood, N., Brice, A.
|
|
<strong>De novo expansion of intermediate alleles in spinocerebellar ataxia 7.</strong>
|
|
Hum. Molec. Genet. 7: 1809-1813, 1998.
|
|
|
|
|
|
[PubMed: 9736784]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/7.11.1809]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Storey, E., du Sart, D., Shaw, J. H., Lorentzos, P., Kelly, L., Gardner, R. J. M., Forrest, S. M., Biros, I., Nicholson, G. A.
|
|
<strong>Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia.</strong>
|
|
Am. J. Med. Genet. 95: 351-357, 2000.
|
|
|
|
|
|
[PubMed: 11186889]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/1096-8628(20001211)95:4<351::aid-ajmg10>3.0.co;2-r]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L., Agid, Y., Brice, A., Mandel, J.-L.
|
|
<strong>Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.</strong>
|
|
Nature 378: 403-406, 1995.
|
|
|
|
|
|
[PubMed: 7477379]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/378403a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van de Warrenburg, B. P. C., Hendriks, H., Durr, A., van Zuijlen, M. C. A., Stevanin, G., Camuzat, A., Sinke, R. J., Brice, A., Kremer, B. P. H.
|
|
<strong>Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.</strong>
|
|
Ann. Neurol. 57: 505-512, 2005.
|
|
|
|
|
|
[PubMed: 15747371]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.20424]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van de Warrenburg, B. P. C., Notermans, N. C., Schelhaas, H. J., van Alfen, N., Sinke, R. J., Knoers, N. V. A. M., Zwarts, M. J., Kremer, B. P. H.
|
|
<strong>Peripheral nerve involvement in spinocerebellar ataxias.</strong>
|
|
Arch. Neurol. 61: 257-261, 2004.
|
|
|
|
|
|
[PubMed: 14967775]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.61.2.257]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wadia, N. H., Swami, R. K.
|
|
<strong>A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families).</strong>
|
|
Brain 94: 359-374, 1971.
|
|
|
|
|
|
[PubMed: 5571047]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/brain/94.2.359]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weiner, L. P., Konigsmark, B. W., Stoll, J., Jr., Magladery, J. W.
|
|
<strong>Hereditary olivopontocerebellar atrophy with retinal degeneration: report of a family through six generations.</strong>
|
|
Arch. Neurol. 16: 364-376, 1967.
|
|
|
|
|
|
[PubMed: 6021917]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1967.00470220028004]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Woodworth, J. A., Beckett, R. S., Netsky, M. G.
|
|
<strong>A composite of hereditary ataxias: a familial disorder with features of olivopontocerebellar atrophy, Leber's optic atrophy and Friedreich's ataxia.</strong>
|
|
Arch. Intern. Med. 104: 594-606, 1959.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yoo, S.-Y., Pennesi, M. E., Weeber, E. J., Xu, B., Atkinson, R., Chen, S., Armstrong, D. L., Wu, S. M., Sweatt, J. D., Zoghbi, H. Y.
|
|
<strong>SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.</strong>
|
|
Neuron 37: 383-401, 2003.
|
|
|
|
|
|
[PubMed: 12575948]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0896-6273(02)01190-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yvert, G., Lindenberg, K. S., Picaud, S., Landwehrmeyer, G. B., Sahel, J. -A., Mandel, J.-L.
|
|
<strong>Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice.</strong>
|
|
Hum. Molec. Genet. 9: 2491-2506, 2000.
|
|
|
|
|
|
[PubMed: 11030754]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/9.17.2491]
|
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|
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|
</p>
|
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</li>
|
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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</div>
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</div>
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</div>
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</div>
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</div>
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</body>
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</html>
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