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Entry
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- #125370 - DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
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- OMIM
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<p>
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<span class="h4">#125370</span>
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<br />
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<strong>Table of Contents</strong>
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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/125370"><strong>Clinical Synopsis</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="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#pathogenesis">Pathogenesis</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="#history">History</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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<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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<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 style="display: table-cell;">External Links</div>
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</a>
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</h4>
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</div>
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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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<div><a href="https://clinicaltrials.gov/search?cond=DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY" 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=150&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/NBK1491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">DRPLA</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/2192" 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://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=125370[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=101" 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 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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<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:0060162" 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/125370" 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/OMIA000344/" 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><a href="https://wormbase.org/resources/disease/DOID:0060162" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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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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</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:125370" 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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<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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</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> 68116008<br />
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<strong>ORPHA:</strong> 101<br />
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<strong>DO:</strong> 0060162<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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125370
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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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DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
|
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
|
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<span class="mim-font">
|
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MYOCLONIC EPILEPSY WITH CHOREOATHETOSIS<br />
|
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NAITO-OYANAGI DISEASE; NOD<br />
|
|
HAW RIVER SYNDROME; HRS<br />
|
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ATAXIA, CHOREA, SEIZURES, AND DEMENTIA
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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">
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<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/12/79?start=-3&limit=10&highlight=79">
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12p13.31
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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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Dentatorubral-pallidoluysian atrophy
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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/125370"> 125370 </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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ATN1
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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/607462"> 607462 </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 ">
|
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<a href="/clinicalSynopsis/125370" 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')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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<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/125370" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/125370" 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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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- 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 />
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|
|
|
</span>
|
|
</div>
|
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|
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cerebellar ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
|
|
Myoclonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17450006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17450006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027066</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Choreoathetosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43105007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43105007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085583</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span><br /> -
|
|
Dementia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
|
|
Degeneration of the dentatorubral and pallidoluysian systems <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852217</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
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|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Mean age of onset 30 years (range first to seventh decade)<br /> -
|
|
Genetic anticipation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003743</a>]</span><br /> -
|
|
Phenotypic heterogeneity<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by trinucleotide repeat expansion (CAG)n in the DRPLA gene (DRPLA, <a href="/entry/607462#0001">607462.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
|
</div>
|
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<div>
|
|
<a id="text" class="mim-anchor"></a>
|
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|
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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|
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<span class="mim-font">
|
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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.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because dentatorubral-pallidoluysian atrophy (DRPLA) is caused by a heterozygous expanded trinucleotide repeat in the ATN1 gene (<a href="/entry/607462">607462</a>) on chromosome 12p13.</p>
|
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</span>
|
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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="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<p>Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder with protean clinical manifestations consisting of various combinations of myoclonus, seizures, ataxia, choreoathetosis, and dementia. The clinical presentation correlates with the size of the causative CAG repeats, and as such, affected family members can present with very different patterns of the disorder (summary by <a href="#42" class="mim-tip-reference" title="Vinton, A., Fahey, M. C., O'Brien, T. J., Shaw, J., Storey, E., McKinlay Gardner, R. J., Mitchell, P. J., Du Sart, D., King, J. O. <strong>Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent.</strong> Am. J. Med. Genet. 136A: 201-204, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15948186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15948186</a>] [<a href="https://doi.org/10.1002/ajmg.a.30355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15948186">Vinton et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15948186" 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>In 5 families, <a href="#25" class="mim-tip-reference" title="Naito, H., Oyanagi, S. <strong>Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy.</strong> Neurology 32: 798-807, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6808417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6808417</a>] [<a href="https://doi.org/10.1212/wnl.32.8.798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6808417">Naito and Oyanagi (1982)</a> reported a syndrome of myoclonic epilepsy, dementia, ataxia, and choreoathetosis. At autopsy, major neuropathologic changes consisted of combined degeneration of the dentatorubral and pallidoluysian systems. Inheritance was autosomal dominant. Onset was usually in the twenties and death in the forties. Although this condition was perhaps first described by <a href="#35" class="mim-tip-reference" title="Smith, J. K., Gonda, V. E., Malamud, N. <strong>Unusual form of cerebellar ataxia: combined dentato-rubral and pallido-Luysian degeneration.</strong> Neurology 8: 205-209, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13517487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13517487</a>] [<a href="https://doi.org/10.1212/wnl.8.3.205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13517487">Smith et al. (1958)</a> and several sporadic cases have been reported from Western countries, this disorder seems to be very rare except in Japan where other hereditary cases have been described (<a href="#15" class="mim-tip-reference" title="Iizuka, R., Hirayama, K., Maehara, K. <strong>Dentatorubro-pallidoluysian atrophy: a clinico-pathological study.</strong> J. Neurol. Neurosurg. Psychiat. 47: 1288-1298, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6512549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6512549</a>] [<a href="https://doi.org/10.1136/jnnp.47.12.1288" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6512549">Iizuka et al., 1984</a>; <a href="#17" class="mim-tip-reference" title="Iwabuchi, K., Amano, N., Yokoi, S., Nakano, T., Yagishita, S. <strong>Two familial cases of dentato-rubro-pallido-luysian atrophy with pseudo-Huntington's chorea.</strong> Rinsho Shinkeigaku 25: 1052-1060, 1985. Note: Article in Japanese.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2936537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2936537</a>]" pmid="2936537">Iwabuchi et al., 1985</a>; <a href="#37" class="mim-tip-reference" title="Takahashi, H., Ohama, E., Naito, H., Takeda, S., Nakashima, S., Makifuchi, T., Ikuta, F. <strong>Hereditary dentato-rubral-pallidoluysian atrophy: clinical and pathologic variants in a family.</strong> Neurology 38: 1065-1070, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3386824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3386824</a>] [<a href="https://doi.org/10.1212/wnl.38.7.1065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3386824">Takahashi et al., 1988</a>). <a href="#13" class="mim-tip-reference" title="Hirayama, K., Iizuka, R., Maehara, K., Watanabe, T. <strong>Clinicopathological study of dentatorubro-pallidoluysian atrophy. Part 1. Its clinical form and analysis of symptomatology.</strong> Shinkei Kenkyu no Shinpo 25: 725-736, 1981."None>Hirayama et al. (1981)</a> classified 3 clinical forms of DRPLA: the ataxo-choreoathetoid form, the pseudo-Huntington form, and the myoclonic epilepsy form. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6512549+3386824+13517487+2936537+6808417" 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="Tomoda, A., Ikezawa, M., Ohtani, Y., Miike, T., Kumamoto, T. <strong>Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood.</strong> Brain Dev. 13: 266-269, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1957976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1957976</a>] [<a href="https://doi.org/10.1016/s0387-7604(12)80061-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1957976">Tomoda et al. (1991)</a> described a Japanese family with 12 affected individuals in 3 generations. They emphasized that patients with onset in childhood usually have the progressive myoclonic epilepsy (PME) syndrome (<a href="/entry/254800">254800</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1957976" 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="#43" class="mim-tip-reference" title="Warner, T. T., Williams, L., Harding, A. E. <strong>DRPLA in Europe. (Letter)</strong> Nature Genet. 6: 225, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012381/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012381</a>] [<a href="https://doi.org/10.1038/ng0394-225a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012381">Warner et al. (1994)</a> described 1 family in the United Kingdom in which the DRPLA repeat expansion was demonstrated in 3 affected sibs. In the course of studying Huntington disease (HD; <a href="/entry/143100">143100</a>) in Wessex in the U.K., <a href="#8" class="mim-tip-reference" title="Connarty, M., Dennis, N. R., Patch, C., Macpherson, J. N., Harvey, J. F. <strong>Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy.</strong> Hum. Genet. 97: 76-78, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8557266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8557266</a>] [<a href="https://doi.org/10.1007/BF00218837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8557266">Connarty et al. (1996)</a> found a second family with DRPLA. A father and daughter were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8012381+8557266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a single Japanese family, <a href="#29" class="mim-tip-reference" title="Saitoh, S., Momoi, M. Y., Yamagata, T., Miyao, M., Suwa, K. <strong>Clinical and electroencephalographic findings in juvenile type DRPLA.</strong> Pediat. Neurol. 18: 265-268, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9568927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9568927</a>] [<a href="https://doi.org/10.1016/s0887-8994(97)00175-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9568927">Saitoh et al. (1998)</a> observed 5 different clinical types of DRPLA. Two sibs and their paternal uncle manifested the juvenile type, the father of the sibs had the late-adult type, and another paternal uncle had the early-adult type. Gene analysis confirmed the diagnosis for the proband and her sib. By following the clinical courses and electroencephalographic changes, they found that the types of epileptic seizures and the EEGs of the juvenile DRPLA patients changed as the course progressed. The sibs exhibited different levels of clinical severity despite the similar DNA expansion detected in their lymphocytes (see GENOTYPE/PHENOTYPE CORRELATIONS). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9568927" 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="#33" class="mim-tip-reference" title="Shimojo, Y., Osawa, Y., Fukumizu, M., Hanaoka, S., Tanaka, H., Ogata, F., Sasaki, M, Sugai, K. <strong>Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats.</strong> Neurology 56: 277-278, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11160976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11160976</a>] [<a href="https://doi.org/10.1212/wnl.56.2.277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11160976">Shimojo et al. (2001)</a> reported 2 unrelated patients with infantile DRPLA. Both patients developed normally until about 6 months of age, when motor signs, such as difficulty controlling the head, choreoathetosis, hyperkinetic movements, involuntary movements, and seizures developed. MRI of both patients showed cerebral atrophy and delayed myelination. CAG repeat sizes were 93 and 90, representing extreme repeat expansion. Although the parents refused DNA analysis, <a href="#33" class="mim-tip-reference" title="Shimojo, Y., Osawa, Y., Fukumizu, M., Hanaoka, S., Tanaka, H., Ogata, F., Sasaki, M, Sugai, K. <strong>Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats.</strong> Neurology 56: 277-278, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11160976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11160976</a>] [<a href="https://doi.org/10.1212/wnl.56.2.277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11160976">Shimojo et al. (2001)</a> suggested that the early onset and severe clinical courses were related to the long repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11160976" 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>Haw River Syndrome</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Farmer, T. W., Wingfield, M. S., Lynch, S. A., Vogel, F. S., Hulette, C., Katchinoff, B., Jacobson, P. L. <strong>Ataxia, chorea, seizures, and dementia: pathologic features of a newly defined familial disorder.</strong> Arch. Neurol. 46: 774-779, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2742549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2742549</a>] [<a href="https://doi.org/10.1001/archneur.1989.00520430068020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2742549">Farmer et al. (1989)</a> described a family, with ancestors born in Haw River, North Carolina, that contained members in 5 generations with an autosomal dominant neurologic disorder. It was characterized by the development between 15 and 30 years of age of ataxia, seizures, choreiform movements, progressive dementia, and death after 15 to 25 years of illness. Neuropathologic findings in 2 deceased family members demonstrated remarkably similar findings, including marked neuronal loss of the dentate nucleus, microcalcification of the globus pallidus, neuroaxonal dystrophy of the nucleus gracilis, and demyelination of the centrum semiovale. The clinical and pathologic findings were closely correlated: ataxia and chorea were related to severe neuronal loss in the dentate nucleus with calcification in the globus pallidus. Dementia occurred from progressive demyelination of the centrum semiovale, and loss of posterior column function occurred from neuroaxonal dystrophy of the nucleus gracilis and nucleus cuneatus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2742549" 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="#6" class="mim-tip-reference" title="Burke, J. R., Wingfield, M. S., Lewis, K. E., Roses, A. D., Lee, J. E., Hulette, C., Pericak-Vance, M. A., Vance, J. M. <strong>The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.</strong> Nature Genet. 7: 521-524, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951323</a>] [<a href="https://doi.org/10.1038/ng0894-521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951323">Burke et al. (1994)</a> noted that the phenotypic differences between Haw River syndrome and DRPLA include the absence of myoclonic seizures in HRS as well as the presence of extensive demyelinization of the subcortical white matter, basal ganglia calcifications, and neuroaxonal dystrophy which are not seen in DRPLA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951323" 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>The transmission pattern of DRPLA in the families reported by <a href="#25" class="mim-tip-reference" title="Naito, H., Oyanagi, S. <strong>Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy.</strong> Neurology 32: 798-807, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6808417/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6808417</a>] [<a href="https://doi.org/10.1212/wnl.32.8.798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6808417">Naito and Oyanagi (1982)</a>, <a href="#40" class="mim-tip-reference" title="Tomoda, A., Ikezawa, M., Ohtani, Y., Miike, T., Kumamoto, T. <strong>Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood.</strong> Brain Dev. 13: 266-269, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1957976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1957976</a>] [<a href="https://doi.org/10.1016/s0387-7604(12)80061-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1957976">Tomoda et al. (1991)</a>, and others was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6808417+1957976" 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="#21" class="mim-tip-reference" title="Kondo, I., Ohta, H., Yazaki, M., Ikeda, J.-E., Gusella, J. F., Kanazawa, I. <strong>Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus.</strong> J. Med. Genet. 27: 105-108, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1969487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1969487</a>] [<a href="https://doi.org/10.1136/jmg.27.2.105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1969487">Kondo et al. (1990)</a> demonstrated that the mutant gene in this disorder is not an allele of the Huntington disease locus (<a href="/entry/143100">143100</a>), even though there is sufficient phenotypic overlap to lead to confusion of diagnosis; they found that in 4 families there were negative lod scores for DRPLA and D4S10, the locus first linked to HD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1969487" 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="#24" class="mim-tip-reference" title="Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, K., Kondo, I., Murayama, N., Tanaka, Y., Kikushima, H., Umino, K., Kurosawa, H., Furukawa, T., Nihei, K., Inoue, T., Sano, A., Komure, O., Takahashi, M., Yoshizawa, T., Kanazawa, I., Yamada, M. <strong>Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.</strong> Nature Genet. 6: 14-18, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136826</a>] [<a href="https://doi.org/10.1038/ng0194-14" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136826">Nagafuchi et al. (1994)</a> cited linkage analyses using polymorphic markers in DRPLA families that localized the responsible gene locus to chromosome 12p. The DRPLA locus segregated with CD4 (<a href="/entry/186940">186940</a>), with maximum lod = 3.61 at theta = 0.00, and also with VWF (<a href="/entry/613160">613160</a>), with maximum lod = 3.32 at theta = 0.06. Both CD4 and VWF are located on chromosome 12pter-p12. To define the precise location of the DRPLA gene, <a href="#22" class="mim-tip-reference" title="Kuwano, A., Morimoto, Y., Nagai, T., Fukushima, Y., Ohashi, H., Hasegawa, T., Kondo, I. <strong>Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping.</strong> Hum. Genet. 97: 95-98, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8557270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8557270</a>] [<a href="https://doi.org/10.1007/BF00218841" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8557270">Kuwano et al. (1996)</a> studied genotypes of 4 patients, each with a different deletion of 12p. The gene for DRPLA was assigned to 12p13.1-p12.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8136826+8557270" 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="#6" class="mim-tip-reference" title="Burke, J. R., Wingfield, M. S., Lewis, K. E., Roses, A. D., Lee, J. E., Hulette, C., Pericak-Vance, M. A., Vance, J. M. <strong>The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.</strong> Nature Genet. 7: 521-524, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951323</a>] [<a href="https://doi.org/10.1038/ng0894-521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951323">Burke et al. (1994)</a> found that HRS locus is tightly linked to the region of DRPLA on 12p. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951323" 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="#7" class="mim-tip-reference" title="Cancel, G., Durr, A., Stevanin, G., Chneiweiss, H., Duyckaerts, C., Serdaru, M., de Toffol, B., Agid, Y., Brice, A. <strong>Is DRPLA also linked to 14q? (Letter)</strong> Nature Genet. 6: 8, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136838</a>] [<a href="https://doi.org/10.1038/ng0194-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136838">Cancel et al. (1994)</a> studied a large French kindred in which the disorder in 11 affected individuals was considered consistent with DRPLA. A suggestion of linkage was found, however, to the region of chromosome 14 (q24.3-qter) where the gene for spinocerebellar ataxia-3 (SCA3)/Machado-Joseph disease (<a href="/entry/607047">607047</a>) has been mapped. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8136838" 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>DRPLA is one of several examples of disorders related to expansion of a trinucleotide repeat. <a href="#19" class="mim-tip-reference" title="Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F., Tsuji, S. <strong>Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).</strong> Nature Genet. 6: 9-13, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136840</a>] [<a href="https://doi.org/10.1038/ng0194-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136840">Koide et al. (1994)</a> searched a catalog of genes identified by <a href="#23" class="mim-tip-reference" title="Li, S.-H., McInnis, M. G., Margolis, R. L., Antonarakis, S. E., Ross, C. A. <strong>Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms.</strong> Genomics 16: 572-579, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8325628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8325628</a>] [<a href="https://doi.org/10.1006/geno.1993.1232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8325628">Li et al. (1993)</a> that contained trinucleotide repeats expressed in human brain. One of these cDNAs, B37 (ATN1), known to map to chromosome 12, was examined and found to show CAG repeat expansion (<a href="/entry/607462#0001">607462.0001</a>) in 22 individuals with DRPLA. Fragile X syndrome (<a href="/entry/300624">300624</a>), myotonic dystrophy (see <a href="/entry/160900">160900</a>), Kennedy disease (<a href="/entry/313200">313200</a>), Huntington disease, spinocerebellar ataxia-1 (SCA1; <a href="/entry/164400">164400</a>), and fragile XE mental retardation (see <a href="/entry/309548">309548</a>) were the previously identified disorders due to expanded trinucleotide repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8136840+8325628" 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>Burke et al. (<a href="#5" class="mim-tip-reference" title="Burke, J. R., Pericak-Vance, M. A., Vance, J. M. <strong>Haw River syndrome (HRS) and dentatorubropallidoluysian atrophy (DRPLA): disorders with an identical trinucleotide repeat expansion but differences in clinical expression and racial frequency. (Abstract)</strong> Am. J. Hum. Genet. 55 (suppl.): A17 only, 1994."None>1994</a>, <a href="#6" class="mim-tip-reference" title="Burke, J. R., Wingfield, M. S., Lewis, K. E., Roses, A. D., Lee, J. E., Hulette, C., Pericak-Vance, M. A., Vance, J. M. <strong>The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.</strong> Nature Genet. 7: 521-524, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951323</a>] [<a href="https://doi.org/10.1038/ng0894-521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951323">1994</a>) demonstrated that despite their distinct cultural origins and clinical and pathologic differences, Haw River syndrome and DRPLA are is caused by the same expanded CAG repeat in the ATN1 gene (<a href="/entry/607462#0001">607462.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951323" 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="#6" class="mim-tip-reference" title="Burke, J. R., Wingfield, M. S., Lewis, K. E., Roses, A. D., Lee, J. E., Hulette, C., Pericak-Vance, M. A., Vance, J. M. <strong>The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.</strong> Nature Genet. 7: 521-524, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951323</a>] [<a href="https://doi.org/10.1038/ng0894-521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951323">Burke et al. (1994)</a> suggested that the difference in racial frequency of DRPLA is probably due to differences in the repeat size. The frequency of the repeat allele of intermediate size was very low in Europeans, somewhat higher in African Americans, and relatively high (5-10%) in Japanese. This is a situation comparable to the virtual absence of myotonic dystrophy (DM; <a href="/entry/160900">160900</a>) in South African blacks, in whom the frequency of large-length CTG repeats is much lower than in white and Japanese populations (<a href="#11" class="mim-tip-reference" title="Goldman, A., Ramsay, M., Jenkins, T. <strong>Absence of myotonic dystrophy in southern African negroids is associated with a significantly lower number of CTG trinucleotide repeats.</strong> J. Med. Genet. 31: 37-40, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8151635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8151635</a>] [<a href="https://doi.org/10.1136/jmg.31.1.37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8151635">Goldman et al., 1994</a>). See the graphs of the distribution of CAG trinucleotide repeat frequencies in 3 populations presented by <a href="#4" class="mim-tip-reference" title="Burke, J. R., Ikeuchi, T., Koide, R., Tsuji, S., Yamada, M., Pericak-Vance, M. A., Vance, J. M. <strong>Dentatorubral-pallidoluysian atrophy and Haw River syndrome. (Letter)</strong> Lancet 344: 1711-1712, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7996992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7996992</a>] [<a href="https://doi.org/10.1016/s0140-6736(94)90497-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7996992">Burke et al. (1994)</a>, including Japanese colleagues. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7951323+8151635+7996992" 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="#19" class="mim-tip-reference" title="Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F., Tsuji, S. <strong>Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).</strong> Nature Genet. 6: 9-13, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136840</a>] [<a href="https://doi.org/10.1038/ng0194-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136840">Koide et al. (1994)</a> found a good correlation between the size of the (CAG)n repeat expansion and the age of onset. Patients with earlier onset tended to have a phenotype of progressive myoclonic epilepsy and larger expansions. They proposed that the wide variety of clinical manifestations of DRPLA can be explained by the variable unstable expansion of the CAG repeat. Although only 5 cases of paternal transmission and 2 cases of maternal transmission were analyzed, the length of the repeat unit was altered in all cases: the average change in repeat length for paternal transmission was an increase of 4.2 repeats, while that of maternal transmission was a decrease of 1.0 repeat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8136840" 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="#24" class="mim-tip-reference" title="Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, K., Kondo, I., Murayama, N., Tanaka, Y., Kikushima, H., Umino, K., Kurosawa, H., Furukawa, T., Nihei, K., Inoue, T., Sano, A., Komure, O., Takahashi, M., Yoshizawa, T., Kanazawa, I., Yamada, M. <strong>Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.</strong> Nature Genet. 6: 14-18, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136826</a>] [<a href="https://doi.org/10.1038/ng0194-14" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136826">Nagafuchi et al. (1994)</a> found that the repeat size varied from 7 to 23 in normal individuals. In patients, one allele was expanded to between 49 and 75 repeats or occasionally even more. Expansion was usually associated with paternal transmission. Like <a href="#19" class="mim-tip-reference" title="Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F., Tsuji, S. <strong>Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).</strong> Nature Genet. 6: 9-13, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136840</a>] [<a href="https://doi.org/10.1038/ng0194-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136840">Koide et al. (1994)</a>, they found that repeat size correlated closely with age of onset of symptoms and with disease severity. <a href="#20" class="mim-tip-reference" title="Komure, O., Sano, A., Nishino, N., Yamauchi, N., Ueno, S., Kondoh, K., Sano, N., Takahashi, M., Murayama, N., Kondo, I., Nagafuchi, S., Yamada, M., Kanazawa, I. <strong>DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.</strong> Neurology 45: 143-149, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7824105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7824105</a>] [<a href="https://doi.org/10.1212/wnl.45.1.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7824105">Komure et al. (1995)</a> analyzed CAG trinucleotide repeats in 71 individuals from 12 Japanese DRPLA pedigrees that included 38 affected individuals. Normal alleles varied from 7 to 23 repeats, whereas affected individuals had from 53 to 88 repeats. Like <a href="#19" class="mim-tip-reference" title="Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F., Tsuji, S. <strong>Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).</strong> Nature Genet. 6: 9-13, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136840</a>] [<a href="https://doi.org/10.1038/ng0194-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136840">Koide et al. (1994)</a> and <a href="#24" class="mim-tip-reference" title="Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, K., Kondo, I., Murayama, N., Tanaka, Y., Kikushima, H., Umino, K., Kurosawa, H., Furukawa, T., Nihei, K., Inoue, T., Sano, A., Komure, O., Takahashi, M., Yoshizawa, T., Kanazawa, I., Yamada, M. <strong>Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.</strong> Nature Genet. 6: 14-18, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136826</a>] [<a href="https://doi.org/10.1038/ng0194-14" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136826">Nagafuchi et al. (1994)</a>, they found a significant negative correlation between CAG repeat length and age of onset. In 80% of the paternal transmissions, there was an increase of more than 5 repeats, whereas all the maternal transmissions showed either a decrease or an increase of fewer than 5 repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8136840+8136826+7824105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Aoki, M., Abe, K., Kameya, T., Watanabe, M., Itoyama, Y. <strong>Maternal anticipation of DRPLA.</strong> Hum. Molec. Genet. 3: 1197-1198, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981699</a>] [<a href="https://doi.org/10.1093/hmg/3.7.1197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7981699">Aoki et al. (1994)</a> demonstrated that anticipation with expansion of the CAG repeat can occur through mothers as well as through fathers. They investigated 2 families in which offspring showed progressive myoclonic epilepsy with onset in childhood. In 1 family, patients of the first generation showed mild cerebellar ataxia with onset at 52 to 60 years. A patient of the second generation, the mother, showed severe ataxia with onset in the early thirties. The offspring in the third generation showed mental retardation, convulsions and myoclonus beginning at age 8. <a href="#30" class="mim-tip-reference" title="Sano, A., Yamauchi, N., Kakimoto, Y., Komure, O., Kawai, J., Hazama, F., Kuzume, K., Sano, N., Kondo, I. <strong>Anticipation in hereditary dentatorubral-pallidoluysian atrophy.</strong> Hum. Genet. 93: 699-702, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8005597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8005597</a>] [<a href="https://doi.org/10.1007/BF00201575" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8005597">Sano et al. (1994)</a> studied 4 families and also demonstrated anticipation. Older-onset patients suffered from cerebellar ataxia with or without dementia, whereas younger-onset patients presented as progressive myoclonus epilepsy syndrome, consisting of mental retardation, dementia, and cerebellar ataxia as well as epilepsy and myoclonus. Anticipation with paternal transmission was significantly greater than with maternal transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7981699+8005597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Sato, K., Kashihara, K., Okada, S., Ikeuchi, T., Tsuji, S., Shomori, T., Morimoto, K., Hayabara, T. <strong>Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?</strong> Neurology 45: 1934-1936, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7477999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7477999</a>] [<a href="https://doi.org/10.1212/wnl.45.10.1934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7477999">Sato et al. (1995)</a> reported homozygosity for a modest (57-repeat) triplet repeat in a man with early onset of DRPLA at age 17. His parents were first cousins and were neurologically normal at ages 73 and 71, in spite of having 57 CAG repeats in heterozygous state. Four of the proband's sibs died at age 12 with the phenotype of progressive myoclonic epilepsy. These findings supported the hypothesis that the clinical features of DRPLA, like those of Machado-Joseph disease, are influenced by the dosage of expansion of triplet repeats, unlike Huntington disease, in which the homozygous state does not appear to be different clinically from the heterozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7477999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Norremolle, A., Nielsen, J. E., Sorensen, S. A., Hasholt, L. <strong>Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.</strong> Hum. Genet. 95: 313-318, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7868125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7868125</a>] [<a href="https://doi.org/10.1007/BF00225200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7868125">Norremolle et al. (1995)</a> described a Danish family in which affected persons in at least 3 generations had been thought to be suffering from Huntington disease. Because analysis of the huntingtin gene revealed normal alleles and because some of the patients had seizures, they analyzed the B37 gene and found significantly elongated CAG repeats, as had been reported in cases of DRPLA. <a href="#26" class="mim-tip-reference" title="Norremolle, A., Nielsen, J. E., Sorensen, S. A., Hasholt, L. <strong>Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.</strong> Hum. Genet. 95: 313-318, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7868125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7868125</a>] [<a href="https://doi.org/10.1007/BF00225200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7868125">Norremolle et al. (1995)</a> reported that affected persons with almost identical repeat lengths presented very different symptoms. Both expansion and contraction in paternal transmission was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7868125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Ikeuchi, T., Igarashi, S., Takiyama, Y., Onodera, O., Oyake, M., Takano, H., Koide, R., Tanaka, H., Tsuji, S. <strong>Non-mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.</strong> Am. J. Hum. Genet. 58: 730-733, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644735</a>]" pmid="8644735">Ikeuchi et al. (1996)</a> analyzed the segregation patterns of 411 transmissions of 24 DRPLA pedigrees and 80 transmissions in 7 Machado-Joseph disease (MJD; <a href="/entry/109150">109150</a>) pedigrees, with the diagnoses confirmed by molecular testing. Significant distortions in favor of transmission of the mutant alleles were found in male meiosis, where the mutant alleles were transmitted to 62% of all offspring in DRPLA (P less than 0.01) and 73% in MJD (P less than 0.01). The results were considered consistent with meiotic drive in both disorders. The authors commented that since more prominent meiotic instability of the length of the CAG trinucleotide repeats is observed in male meiosis than in female meiosis and since meiotic drive is observed only in male meiosis, these results raised the possibility that a common molecular mechanism underlies the meiotic drive and the meiotic instability in male meiosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644735" 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>On the basis of studies in an extensively affected Tennessee family, <a href="#27" class="mim-tip-reference" title="Potter, N. T. <strong>The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing.</strong> J. Med. Genet. 33: 168-170, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8929958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8929958</a>] [<a href="https://doi.org/10.1136/jmg.33.2.168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8929958">Potter (1996)</a> emphasized the intrafamilial variability and lack of close correlation between age of onset and (CAG)n repeat number in this disease. The studies were done on DNA derived from leukocytes; tissue-specific instability (somatic mosaicism) has been reported in DRPLA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8929958" 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="Takiyama, Y., Sakoe, K., Amaike, M., Soutome, M., Ogawa, T., Nakano, I., Nishizawa, M. <strong>Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases.</strong> Hum. Molec. Genet. 8: 453-457, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9949204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9949204</a>] [<a href="https://doi.org/10.1093/hmg/8.3.453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9949204">Takiyama et al. (1999)</a> determined the CAG repeat size in 427 single sperm from 2 men with DRPLA. The mean variance of the change in the CAG repeat size in sperm from the DRPLA patients (288.0) was larger than any variances of the CAG repeat size in sperm from patients with Machado-Joseph disease (38.5), Huntington disease (69.0), and spinal and bulbar muscular atrophy (16.3; <a href="/entry/313200">313200</a>), which is consistent with the clinical observation that the genetic anticipation on the paternal transmission of DRPLA is the most prominent among CAG repeat diseases. The variance was different in the 2 patients (51.0 vs 524.9, P greater than 0.0001). The segregation ratio of normal to expanded allele sperm was 1:1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9949204" 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="Vinton, A., Fahey, M. C., O'Brien, T. J., Shaw, J., Storey, E., McKinlay Gardner, R. J., Mitchell, P. J., Du Sart, D., King, J. O. <strong>Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent.</strong> Am. J. Med. Genet. 136A: 201-204, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15948186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15948186</a>] [<a href="https://doi.org/10.1002/ajmg.a.30355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15948186">Vinton et al. (2005)</a> reported a 3-generation Caucasian family of Macedonian origin with DRPLA, manifesting as very mild elderly onset, severe young-adult onset, and severe childhood onset presentations in the 3 generations, respectively. Atrophin-1 expansion sizes of 52, 57, and 66 repeats were demonstrated in the 3 patients, respectively. <a href="#42" class="mim-tip-reference" title="Vinton, A., Fahey, M. C., O'Brien, T. J., Shaw, J., Storey, E., McKinlay Gardner, R. J., Mitchell, P. J., Du Sart, D., King, J. O. <strong>Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent.</strong> Am. J. Med. Genet. 136A: 201-204, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15948186/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15948186</a>] [<a href="https://doi.org/10.1002/ajmg.a.30355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15948186">Vinton et al. (2005)</a> stated that the grandparental trinucleotide expansion size of 52 repeats was the smallest overtly pathogenic mutation yet reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15948186" 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>Studying the CAG expansion in brain and other tissues from 6 unrelated DRPLA patients, <a href="#41" class="mim-tip-reference" title="Ueno, S., Kondoh, K., Kotani, Y., Komure, O., Kuno, S., Kawai, J., Hazama, F., Sano, A. <strong>Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA).</strong> Hum. Molec. Genet. 4: 663-666, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633415</a>] [<a href="https://doi.org/10.1093/hmg/4.4.663" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633415">Ueno et al. (1995)</a> showed that the sizes of the CAG expansion in various regions of the brain, except the cerebellum, were generally larger by several repeats than in other peripheral tissues. Brain samples showed greater variation of the expansion compared with other tissues, but neither the size of the CAG expansion nor the degree of CAG repeat variation paralleled the detailed findings of neuropathologic involvement. They concluded that somatic instability of the CAG repeat causes tissue variability, but that other regional or cell type-specific factors must explain the selectivity of cell damage in DRPLA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633415" 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="Burke, J. R., Enghild, J. J., Martin, M. E., Jou, Y.-S., Myers, R. M., Roses, A. D., Vance, J. M., Strittmatter, W. J. <strong>Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.</strong> Nature Med. 2: 347-350, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8612237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8612237</a>] [<a href="https://doi.org/10.1038/nm0396-347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8612237">Burke et al. (1996)</a> demonstrated that synthetic polyglutamine peptides, DRPLA protein and huntingtin (<a href="/entry/613004">613004</a>) from unaffected individuals with normal-sized polyglutamine tracts bind to glyceraldehyde-3-phosphate dehydrogenase (GAPD; <a href="/entry/138400">138400</a>). The authors postulated that diseases characterized by the presence of an expanded CAG repeat may share a common metabolic pathogenesis involving GAPD as a functional component. <a href="#28" class="mim-tip-reference" title="Roses, A. D. <strong>From genes to mechanisms to therapies: lessons to be learned from neurological disorders.</strong> Nature Med. 2: 267-269, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8612215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8612215</a>] [<a href="https://doi.org/10.1038/nm0396-267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8612215">Roses (1996)</a> and <a href="#2" class="mim-tip-reference" title="Barinaga, M. <strong>An intriguing new lead on Huntington's disease.</strong> Science 271: 1233-1234, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8638101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8638101</a>] [<a href="https://doi.org/10.1126/science.271.5253.1233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8638101">Barinaga (1996)</a> reviewed the findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8638101+8612215+8612237" 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="Hayashi, Y., Kakita, A., Yamada, M., Koide, R., Igarashi, S., Takano, H., Ikeuchi, T., Wakabayashi, K., Egawa, S., Tsuji, S., Takahashi, H. <strong>Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain.</strong> Acta Neuropath. 96: 547-552, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9845282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9845282</a>] [<a href="https://doi.org/10.1007/s004010050933" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9845282">Hayashi et al. (1998)</a> used an antibody against ubiquitin to examine the brains and spinal cords of 7 patients with DRPLA. They found small, round immunoreactive intranuclear inclusions in both neurons and glial cells in various brain regions. Electron microscopy showed that such inclusions are composed of granular and filamentous structures. The findings strongly suggested that, in DRPLA, the occurrence of neuronal and glial inclusions is directly related to the causative expanded CAG repeat, that neurons are affected much more widely than previously recognized, and that glial cells are also involved in the disease process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9845282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Sisodia, S. S. <strong>Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial?</strong> Cell 95: 1-4, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9778239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9778239</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81743-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9778239">Sisodia (1998)</a> reviewed the significance of nuclear inclusions in glutamine repeat disorders. For a comprehensive review of DRPLA, including the Japanese literature, see <a href="#18" class="mim-tip-reference" title="Kanazawa, I. <strong>Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease.</strong> Neurogenetics 2: 1-17, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9933295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9933295</a>] [<a href="https://doi.org/10.1007/s100480050046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9933295">Kanazawa (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9778239+9933295" 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="Yamada, M., Sato, T., Tsuji, S., Takahashi, H. <strong>Oligodendrocytic polyglutamine pathology in dentatorubral-pallidoluysian atrophy.</strong> Ann. Neurol. 52: 670-674, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402270</a>] [<a href="https://doi.org/10.1002/ana.10352" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402270">Yamada et al. (2002)</a> noted that some patients with DRPLA have white matter lesions characterized neuropathologically by diffuse myelin pallor. The number of lesions correlates with increasing age, being milder in degree in juveniles and more severe in older adults. In immunohistochemical studies of brains of 12 affected patients and transgenic mice with expanded (CAG)n repeats, <a href="#45" class="mim-tip-reference" title="Yamada, M., Sato, T., Tsuji, S., Takahashi, H. <strong>Oligodendrocytic polyglutamine pathology in dentatorubral-pallidoluysian atrophy.</strong> Ann. Neurol. 52: 670-674, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402270</a>] [<a href="https://doi.org/10.1002/ana.10352" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402270">Yamada et al. (2002)</a> found immunoreactivity for polyQ in some glial nuclei that was increased with larger expansions of (CAG)n repeats. The authors concluded that oligodendrocytes are a target for the polyQ pathogenesis in DRPLA and may lead to white matter degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12402270" 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>Since DRPLA occurs almost only in Japanese, <a href="#19" class="mim-tip-reference" title="Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F., Tsuji, S. <strong>Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).</strong> Nature Genet. 6: 9-13, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136840</a>] [<a href="https://doi.org/10.1038/ng0194-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136840">Koide et al. (1994)</a> suggested that there may exist a founder effect. In a nationwide survey of Japanese patients, <a href="#14" class="mim-tip-reference" title="Hirayama, K., Takayanagi, T., Nakamura, R., Yanagisawa, N., Hattori, T., Kita, K., Yanagimoto, S., Fujita, M., Nagaoka, M., Satomura, Y., Sobue, I., Iizuka, R., Toyokura, Y., Satoyoshi, E. <strong>Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study.</strong> Acta Neurol. Scand. 89 (suppl. 153): 1-22, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8059595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8059595</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1994.tb05401.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8059595">Hirayama et al. (1994)</a> estimated the prevalence of all forms of spinocerebellar degeneration to be 4.53 per 100,000, of which 2.5% were estimated to have DRPLA. <a href="#44" class="mim-tip-reference" title="Watanabe, H., Tanaka, F., Matsumoto, M., Doyu, M., Ando, T., Mitsuma, T., Sobue, G. <strong>Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6.</strong> Clin. Genet. 53: 13-19, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9550356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9550356</a>] [<a href="https://doi.org/10.1034/j.1399-0004.1998.531530104.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9550356">Watanabe et al. (1998)</a> investigated 101 kindreds with spinocerebellar ataxias from the central Honshu island of Japan, using a molecular diagnostic approach with amplification of the CAG trinucleotide repeat of the causative genes. DRPLA ranked second in prevalence, accounting for 19.8% of the cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8136840+8059595+9550356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>DRPLA has been considered to be rare in Europe. <a href="#9" class="mim-tip-reference" title="Dubourg, O., Durr, A., Chneiweiss, H., Stevanin, G., Cancel, G., Penet, C., Agid, Y., Brice, A. <strong>La forme ataxo-choreique de DRPLA existe-t-elle en Europe? Recherche de la mutation dans 120 familles.</strong> Rev. Neurol. (Paris) 151: 657-660, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8745629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8745629</a>]" pmid="8745629">Dubourg et al. (1995)</a> failed to find a single case in a survey of 117 French patients with cerebellar ataxia from 94 families, concluding that DRPLA is rare in the French population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8745629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 202 Japanese and 177 Caucasian families with autosomal dominant SCA, <a href="#38" class="mim-tip-reference" title="Takano, H., Cancel, G., Ikeuchi, T., Lorenzetti, D., Mawad, R., Stevanin, G., Didierjean, O., Durr, A., Oyake, M., Shimohata, T., Sasaki, R., Koide, R., Igarashi, S., Hayashi, S., Takiyama, Y., Nishizawa, M., Tanaka, H., Zoghbi, H., Brice, A., Tsuji, S. <strong>Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.</strong> Am. J. Hum. Genet. 63: 1060-1066, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758625</a>] [<a href="https://doi.org/10.1086/302067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758625">Takano et al. (1998)</a> found that the prevalence of DRPLA was significantly higher in the Japanese population (20%) compared to Caucasian population (0%). This corresponded to higher frequencies of large normal ATN1 CAG alleles (greater than 17 repeats) in Japanese controls compared to Caucasian controls. The findings suggested that large normal alleles contribute to the generation of expanded alleles that lead to dominant SCA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758625" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Shimizu, Y., Yoshida, K., Okano, T., Ohara, S., Hashimoto, T., Fukushima, Y., Ikeda, S. <strong>Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families.</strong> J. Hum. Genet. 49: 610-616, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15480876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15480876</a>] [<a href="https://doi.org/10.1007/s10038-004-0196-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15480876">Shimizu et al. (2004)</a> estimated the prevalence of autosomal dominant cerebellar ataxia (ADCA) in the Nagano prefecture of Japan to be at least 22 per 100,000. Thirty-one of 86 families (36%) were positive for SCA disease-causing repeat expansions: SCA6 (<a href="/entry/183086">183086</a>) was the most common form (19%), followed by DRPLA (10%), SCA3 (<a href="/entry/109150">109150</a>) (3%), SCA1 (2%), and SCA2 (<a href="/entry/183090">183090</a>) (1%). The authors noted that the prevalence of SCA3 was lower compared to other regions in Japan, and that the number of genetically undetermined SCA families in Nagano was much higher than in other regions. Nagano is the central district of the main island of Japan, located in a mountainous area surrounded by the Japanese Alps. The restricted geography suggested that founder effects may have contributed to the high frequency of genetically undetermined ADCA families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15480876" 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>DRPLA appears to have first been described by <a href="#35" class="mim-tip-reference" title="Smith, J. K., Gonda, V. E., Malamud, N. <strong>Unusual form of cerebellar ataxia: combined dentato-rubral and pallido-Luysian degeneration.</strong> Neurology 8: 205-209, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13517487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13517487</a>] [<a href="https://doi.org/10.1212/wnl.8.3.205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13517487">Smith et al. (1958)</a>. <a href="#36" class="mim-tip-reference" title="Smith, J. K. <strong>Dentatorubropallidoluysian atrophy. In: Vinken, P. J.; Bruyn, G. W. (eds): Handbook of Clinical Neurology. Vol. 21. Part I. System Disorders and Atrophies.</strong> New York: American Elsevier Publishing Co., Inc. 1975. Pp. 519-534."None>Smith (1975)</a> wrote about the disorder under the designation dentatorubropallidoluysian atrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13517487" 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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<a id="Aoki1994" class="mim-anchor"></a>
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Aoki, M., Abe, K., Kameya, T., Watanabe, M., Itoyama, Y.
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<strong>Maternal anticipation of DRPLA.</strong>
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Hum. Molec. Genet. 3: 1197-1198, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7981699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7981699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7981699" 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/3.7.1197" target="_blank">Full Text</a>]
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Barinaga, M.
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<strong>An intriguing new lead on Huntington's disease.</strong>
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Science 271: 1233-1234, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8638101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8638101</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8638101" 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/10.1126/science.271.5253.1233" target="_blank">Full Text</a>]
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Burke, J. R., Enghild, J. J., Martin, M. E., Jou, Y.-S., Myers, R. M., Roses, A. D., Vance, J. M., Strittmatter, W. J.
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<strong>Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.</strong>
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Nature Med. 2: 347-350, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8612237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8612237</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8612237" 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/10.1038/nm0396-347" target="_blank">Full Text</a>]
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Burke, J. R., Ikeuchi, T., Koide, R., Tsuji, S., Yamada, M., Pericak-Vance, M. A., Vance, J. M.
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<strong>Dentatorubral-pallidoluysian atrophy and Haw River syndrome. (Letter)</strong>
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Lancet 344: 1711-1712, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7996992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7996992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7996992" 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/s0140-6736(94)90497-9" target="_blank">Full Text</a>]
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Burke, J. R., Pericak-Vance, M. A., Vance, J. M.
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<strong>Haw River syndrome (HRS) and dentatorubropallidoluysian atrophy (DRPLA): disorders with an identical trinucleotide repeat expansion but differences in clinical expression and racial frequency. (Abstract)</strong>
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Am. J. Hum. Genet. 55 (suppl.): A17 only, 1994.
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Burke, J. R., Wingfield, M. S., Lewis, K. E., Roses, A. D., Lee, J. E., Hulette, C., Pericak-Vance, M. A., Vance, J. M.
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<strong>The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.</strong>
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Nature Genet. 7: 521-524, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951323" 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/10.1038/ng0894-521" target="_blank">Full Text</a>]
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<a id="Cancel1994" class="mim-anchor"></a>
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Cancel, G., Durr, A., Stevanin, G., Chneiweiss, H., Duyckaerts, C., Serdaru, M., de Toffol, B., Agid, Y., Brice, A.
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<strong>Is DRPLA also linked to 14q? (Letter)</strong>
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Nature Genet. 6: 8, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136838</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8136838" 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/10.1038/ng0194-8" target="_blank">Full Text</a>]
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<a id="Connarty1996" class="mim-anchor"></a>
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Connarty, M., Dennis, N. R., Patch, C., Macpherson, J. N., Harvey, J. F.
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<strong>Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy.</strong>
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Hum. Genet. 97: 76-78, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8557266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8557266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8557266" 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/10.1007/BF00218837" target="_blank">Full Text</a>]
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<a id="Dubourg1995" class="mim-anchor"></a>
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Dubourg, O., Durr, A., Chneiweiss, H., Stevanin, G., Cancel, G., Penet, C., Agid, Y., Brice, A.
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<strong>La forme ataxo-choreique de DRPLA existe-t-elle en Europe? Recherche de la mutation dans 120 familles.</strong>
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Rev. Neurol. (Paris) 151: 657-660, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8745629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8745629</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8745629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Farmer1989" class="mim-anchor"></a>
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Farmer, T. W., Wingfield, M. S., Lynch, S. A., Vogel, F. S., Hulette, C., Katchinoff, B., Jacobson, P. L.
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<strong>Ataxia, chorea, seizures, and dementia: pathologic features of a newly defined familial disorder.</strong>
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Arch. Neurol. 46: 774-779, 1989.
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[<a href="https://doi.org/10.1001/archneur.1989.00520430068020" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.31.1.37" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004010050933" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1600-0404.1994.tb05401.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jnnp.47.12.1288" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s100480050046" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0194-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.45.1.143" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.27.2.105" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1232" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00225200" target="_blank">Full Text</a>]
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Yamada, M., Sato, T., Tsuji, S., Takahashi, H.
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<strong>Oligodendrocytic polyglutamine pathology in dentatorubral-pallidoluysian atrophy.</strong>
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Ann. Neurol. 52: 670-674, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12402270" 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/10.1002/ana.10352" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/19/2012
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Marla J. F. O'Neill - updated : 12/28/2005<br>Cassandra L. Kniffin - updated : 12/15/2004<br>Cassandra L. Kniffin - reorganized : 1/24/2003<br>Cassandra L. Kniffin - updated : 1/7/2003<br>Cassandra L. Kniffin - updated : 7/23/2002<br>Stylianos E. Antonarakis - updated : 1/24/2002<br>Wilson H. Y. Lo - updated : 8/10/1999<br>Ada Hamosh - updated : 4/1/1999<br>Victor A. McKusick - updated : 2/18/1999<br>Victor A. McKusick - updated : 2/11/1999<br>Victor A. McKusick - updated : 1/25/1999<br>Stylianos E. Antonarakis - updated : 10/8/1998<br>Victor A. McKusick - updated : 8/26/1998<br>Rebekah S. Rasooly - updated : 4/1/1998<br>Victor A. McKusick - updated : 7/7/1997<br>Orest Hurko - updated : 4/2/1996<br>Moyra Smith - updated : 3/27/1996<br>Orest Hurko - updated : 3/26/1996<br>Moyra Smith - updated : 3/19/1996
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Victor A. McKusick : 6/4/1986
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carol : 06/04/2022
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carol : 03/31/2020<br>alopez : 03/30/2020<br>carol : 04/19/2016<br>ckniffin : 3/19/2012<br>terry : 10/27/2011<br>carol : 1/3/2011<br>carol : 10/4/2010<br>terry : 5/11/2010<br>carol : 9/15/2009<br>carol : 2/9/2009<br>carol : 11/28/2006<br>wwang : 1/3/2006<br>terry : 12/28/2005<br>tkritzer : 12/15/2004<br>ckniffin : 12/15/2004<br>alopez : 10/28/2004<br>carol : 1/24/2003<br>carol : 1/24/2003<br>ckniffin : 1/7/2003<br>ckniffin : 1/7/2003<br>ckniffin : 1/7/2003<br>tkritzer : 8/9/2002<br>ckniffin : 7/23/2002<br>ckniffin : 6/21/2002<br>mgross : 1/24/2002<br>carol : 8/10/1999<br>terry : 4/29/1999<br>mgross : 4/8/1999<br>mgross : 4/2/1999<br>mgross : 4/1/1999<br>mgross : 2/25/1999<br>mgross : 2/19/1999<br>terry : 2/18/1999<br>carol : 2/11/1999<br>carol : 2/8/1999<br>terry : 1/25/1999<br>carol : 10/8/1998<br>carol : 8/27/1998<br>terry : 8/26/1998<br>carol : 5/19/1998<br>psherman : 4/1/1998<br>dholmes : 10/3/1997<br>alopez : 7/7/1997<br>mark : 7/7/1997<br>mark : 7/7/1997<br>mark : 4/27/1996<br>terry : 4/19/1996<br>terry : 4/15/1996<br>mark : 4/2/1996<br>terry : 4/1/1996<br>terry : 3/29/1996<br>mark : 3/27/1996<br>mark : 3/26/1996<br>terry : 3/26/1996<br>terry : 3/26/1996<br>mark : 3/19/1996<br>terry : 3/19/1996<br>mark : 3/19/1996<br>mark : 3/13/1996<br>terry : 3/7/1996<br>mark : 2/22/1996<br>mark : 1/14/1996<br>terry : 11/17/1995<br>mark : 11/13/1995<br>carol : 2/1/1995<br>mimadm : 6/25/1994<br>carol : 12/6/1993
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<strong>#</strong> 125370
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DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
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MYOCLONIC EPILEPSY WITH CHOREOATHETOSIS<br />
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NAITO-OYANAGI DISEASE; NOD<br />
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HAW RIVER SYNDROME; HRS<br />
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ATAXIA, CHOREA, SEIZURES, AND DEMENTIA
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<strong>SNOMEDCT:</strong> 68116008;
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<strong>ORPHA:</strong> 101;
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<strong>DO:</strong> 0060162;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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12p13.31
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<span class="mim-font">
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Dentatorubral-pallidoluysian atrophy
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125370
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Autosomal dominant
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3
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ATN1
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607462
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because dentatorubral-pallidoluysian atrophy (DRPLA) is caused by a heterozygous expanded trinucleotide repeat in the ATN1 gene (607462) on chromosome 12p13.</p>
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<strong>Description</strong>
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<p>Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder with protean clinical manifestations consisting of various combinations of myoclonus, seizures, ataxia, choreoathetosis, and dementia. The clinical presentation correlates with the size of the causative CAG repeats, and as such, affected family members can present with very different patterns of the disorder (summary by Vinton et al., 2005). </p>
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<strong>Clinical Features</strong>
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<p>In 5 families, Naito and Oyanagi (1982) reported a syndrome of myoclonic epilepsy, dementia, ataxia, and choreoathetosis. At autopsy, major neuropathologic changes consisted of combined degeneration of the dentatorubral and pallidoluysian systems. Inheritance was autosomal dominant. Onset was usually in the twenties and death in the forties. Although this condition was perhaps first described by Smith et al. (1958) and several sporadic cases have been reported from Western countries, this disorder seems to be very rare except in Japan where other hereditary cases have been described (Iizuka et al., 1984; Iwabuchi et al., 1985; Takahashi et al., 1988). Hirayama et al. (1981) classified 3 clinical forms of DRPLA: the ataxo-choreoathetoid form, the pseudo-Huntington form, and the myoclonic epilepsy form. </p><p>Tomoda et al. (1991) described a Japanese family with 12 affected individuals in 3 generations. They emphasized that patients with onset in childhood usually have the progressive myoclonic epilepsy (PME) syndrome (254800). </p><p>Warner et al. (1994) described 1 family in the United Kingdom in which the DRPLA repeat expansion was demonstrated in 3 affected sibs. In the course of studying Huntington disease (HD; 143100) in Wessex in the U.K., Connarty et al. (1996) found a second family with DRPLA. A father and daughter were affected. </p><p>In a single Japanese family, Saitoh et al. (1998) observed 5 different clinical types of DRPLA. Two sibs and their paternal uncle manifested the juvenile type, the father of the sibs had the late-adult type, and another paternal uncle had the early-adult type. Gene analysis confirmed the diagnosis for the proband and her sib. By following the clinical courses and electroencephalographic changes, they found that the types of epileptic seizures and the EEGs of the juvenile DRPLA patients changed as the course progressed. The sibs exhibited different levels of clinical severity despite the similar DNA expansion detected in their lymphocytes (see GENOTYPE/PHENOTYPE CORRELATIONS). </p><p>Shimojo et al. (2001) reported 2 unrelated patients with infantile DRPLA. Both patients developed normally until about 6 months of age, when motor signs, such as difficulty controlling the head, choreoathetosis, hyperkinetic movements, involuntary movements, and seizures developed. MRI of both patients showed cerebral atrophy and delayed myelination. CAG repeat sizes were 93 and 90, representing extreme repeat expansion. Although the parents refused DNA analysis, Shimojo et al. (2001) suggested that the early onset and severe clinical courses were related to the long repeats. </p><p><strong><em>Haw River Syndrome</em></strong></p><p>
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Farmer et al. (1989) described a family, with ancestors born in Haw River, North Carolina, that contained members in 5 generations with an autosomal dominant neurologic disorder. It was characterized by the development between 15 and 30 years of age of ataxia, seizures, choreiform movements, progressive dementia, and death after 15 to 25 years of illness. Neuropathologic findings in 2 deceased family members demonstrated remarkably similar findings, including marked neuronal loss of the dentate nucleus, microcalcification of the globus pallidus, neuroaxonal dystrophy of the nucleus gracilis, and demyelination of the centrum semiovale. The clinical and pathologic findings were closely correlated: ataxia and chorea were related to severe neuronal loss in the dentate nucleus with calcification in the globus pallidus. Dementia occurred from progressive demyelination of the centrum semiovale, and loss of posterior column function occurred from neuroaxonal dystrophy of the nucleus gracilis and nucleus cuneatus. </p><p>Burke et al. (1994) noted that the phenotypic differences between Haw River syndrome and DRPLA include the absence of myoclonic seizures in HRS as well as the presence of extensive demyelinization of the subcortical white matter, basal ganglia calcifications, and neuroaxonal dystrophy which are not seen in DRPLA. </p>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of DRPLA in the families reported by Naito and Oyanagi (1982), Tomoda et al. (1991), and others was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>Kondo et al. (1990) demonstrated that the mutant gene in this disorder is not an allele of the Huntington disease locus (143100), even though there is sufficient phenotypic overlap to lead to confusion of diagnosis; they found that in 4 families there were negative lod scores for DRPLA and D4S10, the locus first linked to HD. </p><p>Nagafuchi et al. (1994) cited linkage analyses using polymorphic markers in DRPLA families that localized the responsible gene locus to chromosome 12p. The DRPLA locus segregated with CD4 (186940), with maximum lod = 3.61 at theta = 0.00, and also with VWF (613160), with maximum lod = 3.32 at theta = 0.06. Both CD4 and VWF are located on chromosome 12pter-p12. To define the precise location of the DRPLA gene, Kuwano et al. (1996) studied genotypes of 4 patients, each with a different deletion of 12p. The gene for DRPLA was assigned to 12p13.1-p12.3. </p><p>Burke et al. (1994) found that HRS locus is tightly linked to the region of DRPLA on 12p. </p><p>Cancel et al. (1994) studied a large French kindred in which the disorder in 11 affected individuals was considered consistent with DRPLA. A suggestion of linkage was found, however, to the region of chromosome 14 (q24.3-qter) where the gene for spinocerebellar ataxia-3 (SCA3)/Machado-Joseph disease (607047) has been mapped. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>DRPLA is one of several examples of disorders related to expansion of a trinucleotide repeat. Koide et al. (1994) searched a catalog of genes identified by Li et al. (1993) that contained trinucleotide repeats expressed in human brain. One of these cDNAs, B37 (ATN1), known to map to chromosome 12, was examined and found to show CAG repeat expansion (607462.0001) in 22 individuals with DRPLA. Fragile X syndrome (300624), myotonic dystrophy (see 160900), Kennedy disease (313200), Huntington disease, spinocerebellar ataxia-1 (SCA1; 164400), and fragile XE mental retardation (see 309548) were the previously identified disorders due to expanded trinucleotide repeats. </p><p>Burke et al. (1994, 1994) demonstrated that despite their distinct cultural origins and clinical and pathologic differences, Haw River syndrome and DRPLA are is caused by the same expanded CAG repeat in the ATN1 gene (607462.0001). </p>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Burke et al. (1994) suggested that the difference in racial frequency of DRPLA is probably due to differences in the repeat size. The frequency of the repeat allele of intermediate size was very low in Europeans, somewhat higher in African Americans, and relatively high (5-10%) in Japanese. This is a situation comparable to the virtual absence of myotonic dystrophy (DM; 160900) in South African blacks, in whom the frequency of large-length CTG repeats is much lower than in white and Japanese populations (Goldman et al., 1994). See the graphs of the distribution of CAG trinucleotide repeat frequencies in 3 populations presented by Burke et al. (1994), including Japanese colleagues. </p><p><strong><em>Genetic Anticipation</em></strong></p><p>
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Koide et al. (1994) found a good correlation between the size of the (CAG)n repeat expansion and the age of onset. Patients with earlier onset tended to have a phenotype of progressive myoclonic epilepsy and larger expansions. They proposed that the wide variety of clinical manifestations of DRPLA can be explained by the variable unstable expansion of the CAG repeat. Although only 5 cases of paternal transmission and 2 cases of maternal transmission were analyzed, the length of the repeat unit was altered in all cases: the average change in repeat length for paternal transmission was an increase of 4.2 repeats, while that of maternal transmission was a decrease of 1.0 repeat. </p><p>Nagafuchi et al. (1994) found that the repeat size varied from 7 to 23 in normal individuals. In patients, one allele was expanded to between 49 and 75 repeats or occasionally even more. Expansion was usually associated with paternal transmission. Like Koide et al. (1994), they found that repeat size correlated closely with age of onset of symptoms and with disease severity. Komure et al. (1995) analyzed CAG trinucleotide repeats in 71 individuals from 12 Japanese DRPLA pedigrees that included 38 affected individuals. Normal alleles varied from 7 to 23 repeats, whereas affected individuals had from 53 to 88 repeats. Like Koide et al. (1994) and Nagafuchi et al. (1994), they found a significant negative correlation between CAG repeat length and age of onset. In 80% of the paternal transmissions, there was an increase of more than 5 repeats, whereas all the maternal transmissions showed either a decrease or an increase of fewer than 5 repeats. </p><p>Aoki et al. (1994) demonstrated that anticipation with expansion of the CAG repeat can occur through mothers as well as through fathers. They investigated 2 families in which offspring showed progressive myoclonic epilepsy with onset in childhood. In 1 family, patients of the first generation showed mild cerebellar ataxia with onset at 52 to 60 years. A patient of the second generation, the mother, showed severe ataxia with onset in the early thirties. The offspring in the third generation showed mental retardation, convulsions and myoclonus beginning at age 8. Sano et al. (1994) studied 4 families and also demonstrated anticipation. Older-onset patients suffered from cerebellar ataxia with or without dementia, whereas younger-onset patients presented as progressive myoclonus epilepsy syndrome, consisting of mental retardation, dementia, and cerebellar ataxia as well as epilepsy and myoclonus. Anticipation with paternal transmission was significantly greater than with maternal transmission. </p><p>Sato et al. (1995) reported homozygosity for a modest (57-repeat) triplet repeat in a man with early onset of DRPLA at age 17. His parents were first cousins and were neurologically normal at ages 73 and 71, in spite of having 57 CAG repeats in heterozygous state. Four of the proband's sibs died at age 12 with the phenotype of progressive myoclonic epilepsy. These findings supported the hypothesis that the clinical features of DRPLA, like those of Machado-Joseph disease, are influenced by the dosage of expansion of triplet repeats, unlike Huntington disease, in which the homozygous state does not appear to be different clinically from the heterozygous state. </p><p>Norremolle et al. (1995) described a Danish family in which affected persons in at least 3 generations had been thought to be suffering from Huntington disease. Because analysis of the huntingtin gene revealed normal alleles and because some of the patients had seizures, they analyzed the B37 gene and found significantly elongated CAG repeats, as had been reported in cases of DRPLA. Norremolle et al. (1995) reported that affected persons with almost identical repeat lengths presented very different symptoms. Both expansion and contraction in paternal transmission was observed. </p><p>Ikeuchi et al. (1996) analyzed the segregation patterns of 411 transmissions of 24 DRPLA pedigrees and 80 transmissions in 7 Machado-Joseph disease (MJD; 109150) pedigrees, with the diagnoses confirmed by molecular testing. Significant distortions in favor of transmission of the mutant alleles were found in male meiosis, where the mutant alleles were transmitted to 62% of all offspring in DRPLA (P less than 0.01) and 73% in MJD (P less than 0.01). The results were considered consistent with meiotic drive in both disorders. The authors commented that since more prominent meiotic instability of the length of the CAG trinucleotide repeats is observed in male meiosis than in female meiosis and since meiotic drive is observed only in male meiosis, these results raised the possibility that a common molecular mechanism underlies the meiotic drive and the meiotic instability in male meiosis. </p><p>On the basis of studies in an extensively affected Tennessee family, Potter (1996) emphasized the intrafamilial variability and lack of close correlation between age of onset and (CAG)n repeat number in this disease. The studies were done on DNA derived from leukocytes; tissue-specific instability (somatic mosaicism) has been reported in DRPLA. </p><p>Takiyama et al. (1999) determined the CAG repeat size in 427 single sperm from 2 men with DRPLA. The mean variance of the change in the CAG repeat size in sperm from the DRPLA patients (288.0) was larger than any variances of the CAG repeat size in sperm from patients with Machado-Joseph disease (38.5), Huntington disease (69.0), and spinal and bulbar muscular atrophy (16.3; 313200), which is consistent with the clinical observation that the genetic anticipation on the paternal transmission of DRPLA is the most prominent among CAG repeat diseases. The variance was different in the 2 patients (51.0 vs 524.9, P greater than 0.0001). The segregation ratio of normal to expanded allele sperm was 1:1. </p><p>Vinton et al. (2005) reported a 3-generation Caucasian family of Macedonian origin with DRPLA, manifesting as very mild elderly onset, severe young-adult onset, and severe childhood onset presentations in the 3 generations, respectively. Atrophin-1 expansion sizes of 52, 57, and 66 repeats were demonstrated in the 3 patients, respectively. Vinton et al. (2005) stated that the grandparental trinucleotide expansion size of 52 repeats was the smallest overtly pathogenic mutation yet reported. </p>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Studying the CAG expansion in brain and other tissues from 6 unrelated DRPLA patients, Ueno et al. (1995) showed that the sizes of the CAG expansion in various regions of the brain, except the cerebellum, were generally larger by several repeats than in other peripheral tissues. Brain samples showed greater variation of the expansion compared with other tissues, but neither the size of the CAG expansion nor the degree of CAG repeat variation paralleled the detailed findings of neuropathologic involvement. They concluded that somatic instability of the CAG repeat causes tissue variability, but that other regional or cell type-specific factors must explain the selectivity of cell damage in DRPLA. </p><p>Burke et al. (1996) demonstrated that synthetic polyglutamine peptides, DRPLA protein and huntingtin (613004) from unaffected individuals with normal-sized polyglutamine tracts bind to glyceraldehyde-3-phosphate dehydrogenase (GAPD; 138400). The authors postulated that diseases characterized by the presence of an expanded CAG repeat may share a common metabolic pathogenesis involving GAPD as a functional component. Roses (1996) and Barinaga (1996) reviewed the findings. </p><p>Hayashi et al. (1998) used an antibody against ubiquitin to examine the brains and spinal cords of 7 patients with DRPLA. They found small, round immunoreactive intranuclear inclusions in both neurons and glial cells in various brain regions. Electron microscopy showed that such inclusions are composed of granular and filamentous structures. The findings strongly suggested that, in DRPLA, the occurrence of neuronal and glial inclusions is directly related to the causative expanded CAG repeat, that neurons are affected much more widely than previously recognized, and that glial cells are also involved in the disease process. </p><p>Sisodia (1998) reviewed the significance of nuclear inclusions in glutamine repeat disorders. For a comprehensive review of DRPLA, including the Japanese literature, see Kanazawa (1998). </p><p>Yamada et al. (2002) noted that some patients with DRPLA have white matter lesions characterized neuropathologically by diffuse myelin pallor. The number of lesions correlates with increasing age, being milder in degree in juveniles and more severe in older adults. In immunohistochemical studies of brains of 12 affected patients and transgenic mice with expanded (CAG)n repeats, Yamada et al. (2002) found immunoreactivity for polyQ in some glial nuclei that was increased with larger expansions of (CAG)n repeats. The authors concluded that oligodendrocytes are a target for the polyQ pathogenesis in DRPLA and may lead to white matter degeneration. </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Since DRPLA occurs almost only in Japanese, Koide et al. (1994) suggested that there may exist a founder effect. In a nationwide survey of Japanese patients, Hirayama et al. (1994) estimated the prevalence of all forms of spinocerebellar degeneration to be 4.53 per 100,000, of which 2.5% were estimated to have DRPLA. Watanabe et al. (1998) investigated 101 kindreds with spinocerebellar ataxias from the central Honshu island of Japan, using a molecular diagnostic approach with amplification of the CAG trinucleotide repeat of the causative genes. DRPLA ranked second in prevalence, accounting for 19.8% of the cases. </p><p>DRPLA has been considered to be rare in Europe. Dubourg et al. (1995) failed to find a single case in a survey of 117 French patients with cerebellar ataxia from 94 families, concluding that DRPLA is rare in the French population. </p><p>Among 202 Japanese and 177 Caucasian families with autosomal dominant SCA, Takano et al. (1998) found that the prevalence of DRPLA was significantly higher in the Japanese population (20%) compared to Caucasian population (0%). This corresponded to higher frequencies of large normal ATN1 CAG alleles (greater than 17 repeats) in Japanese controls compared to Caucasian controls. The findings suggested that large normal alleles contribute to the generation of expanded alleles that lead to dominant SCA. </p><p>Shimizu et al. (2004) estimated the prevalence of autosomal dominant cerebellar ataxia (ADCA) in the Nagano prefecture of Japan to be at least 22 per 100,000. Thirty-one of 86 families (36%) were positive for SCA disease-causing repeat expansions: SCA6 (183086) was the most common form (19%), followed by DRPLA (10%), SCA3 (109150) (3%), SCA1 (2%), and SCA2 (183090) (1%). The authors noted that the prevalence of SCA3 was lower compared to other regions in Japan, and that the number of genetically undetermined SCA families in Nagano was much higher than in other regions. Nagano is the central district of the main island of Japan, located in a mountainous area surrounded by the Japanese Alps. The restricted geography suggested that founder effects may have contributed to the high frequency of genetically undetermined ADCA families. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>DRPLA appears to have first been described by Smith et al. (1958). Smith (1975) wrote about the disorder under the designation dentatorubropallidoluysian atrophy. </p>
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</span>
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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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Aoki, M., Abe, K., Kameya, T., Watanabe, M., Itoyama, Y.
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<strong>Maternal anticipation of DRPLA.</strong>
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Hum. Molec. Genet. 3: 1197-1198, 1994.
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[PubMed: 7981699]
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[Full Text: https://doi.org/10.1093/hmg/3.7.1197]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Barinaga, M.
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<strong>An intriguing new lead on Huntington's disease.</strong>
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Science 271: 1233-1234, 1996.
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[PubMed: 8638101]
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[Full Text: https://doi.org/10.1126/science.271.5253.1233]
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</p>
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<li>
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<p class="mim-text-font">
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Burke, J. R., Enghild, J. J., Martin, M. E., Jou, Y.-S., Myers, R. M., Roses, A. D., Vance, J. M., Strittmatter, W. J.
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<strong>Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.</strong>
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Nature Med. 2: 347-350, 1996.
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[PubMed: 8612237]
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[Full Text: https://doi.org/10.1038/nm0396-347]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Burke, J. R., Ikeuchi, T., Koide, R., Tsuji, S., Yamada, M., Pericak-Vance, M. A., Vance, J. M.
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<strong>Dentatorubral-pallidoluysian atrophy and Haw River syndrome. (Letter)</strong>
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Lancet 344: 1711-1712, 1994.
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[PubMed: 7996992]
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[Full Text: https://doi.org/10.1016/s0140-6736(94)90497-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Burke, J. R., Pericak-Vance, M. A., Vance, J. M.
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<strong>Haw River syndrome (HRS) and dentatorubropallidoluysian atrophy (DRPLA): disorders with an identical trinucleotide repeat expansion but differences in clinical expression and racial frequency. (Abstract)</strong>
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Am. J. Hum. Genet. 55 (suppl.): A17 only, 1994.
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</p>
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<li>
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<p class="mim-text-font">
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Burke, J. R., Wingfield, M. S., Lewis, K. E., Roses, A. D., Lee, J. E., Hulette, C., Pericak-Vance, M. A., Vance, J. M.
|
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<strong>The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.</strong>
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Nature Genet. 7: 521-524, 1994.
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[PubMed: 7951323]
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[Full Text: https://doi.org/10.1038/ng0894-521]
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<p class="mim-text-font">
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Cancel, G., Durr, A., Stevanin, G., Chneiweiss, H., Duyckaerts, C., Serdaru, M., de Toffol, B., Agid, Y., Brice, A.
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<strong>Is DRPLA also linked to 14q? (Letter)</strong>
|
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Nature Genet. 6: 8, 1994.
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[PubMed: 8136838]
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[Full Text: https://doi.org/10.1038/ng0194-8]
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<p class="mim-text-font">
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Connarty, M., Dennis, N. R., Patch, C., Macpherson, J. N., Harvey, J. F.
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<strong>Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy.</strong>
|
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Hum. Genet. 97: 76-78, 1996.
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[PubMed: 8557266]
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[Full Text: https://doi.org/10.1007/BF00218837]
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</p>
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</li>
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<p class="mim-text-font">
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Dubourg, O., Durr, A., Chneiweiss, H., Stevanin, G., Cancel, G., Penet, C., Agid, Y., Brice, A.
|
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<strong>La forme ataxo-choreique de DRPLA existe-t-elle en Europe? Recherche de la mutation dans 120 familles.</strong>
|
|
Rev. Neurol. (Paris) 151: 657-660, 1995.
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[PubMed: 8745629]
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</p>
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<p class="mim-text-font">
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Farmer, T. W., Wingfield, M. S., Lynch, S. A., Vogel, F. S., Hulette, C., Katchinoff, B., Jacobson, P. L.
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<strong>Ataxia, chorea, seizures, and dementia: pathologic features of a newly defined familial disorder.</strong>
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Arch. Neurol. 46: 774-779, 1989.
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[PubMed: 2742549]
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[Full Text: https://doi.org/10.1001/archneur.1989.00520430068020]
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</p>
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<p class="mim-text-font">
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Goldman, A., Ramsay, M., Jenkins, T.
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<strong>Absence of myotonic dystrophy in southern African negroids is associated with a significantly lower number of CTG trinucleotide repeats.</strong>
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J. Med. Genet. 31: 37-40, 1994.
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[PubMed: 8151635]
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[Full Text: https://doi.org/10.1136/jmg.31.1.37]
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</p>
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<li>
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<p class="mim-text-font">
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Hayashi, Y., Kakita, A., Yamada, M., Koide, R., Igarashi, S., Takano, H., Ikeuchi, T., Wakabayashi, K., Egawa, S., Tsuji, S., Takahashi, H.
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<strong>Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain.</strong>
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Acta Neuropath. 96: 547-552, 1998.
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[PubMed: 9845282]
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[Full Text: https://doi.org/10.1007/s004010050933]
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Hirayama, K., Iizuka, R., Maehara, K., Watanabe, T.
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<strong>Clinicopathological study of dentatorubro-pallidoluysian atrophy. Part 1. Its clinical form and analysis of symptomatology.</strong>
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Shinkei Kenkyu no Shinpo 25: 725-736, 1981.
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</p>
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<p class="mim-text-font">
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Hirayama, K., Takayanagi, T., Nakamura, R., Yanagisawa, N., Hattori, T., Kita, K., Yanagimoto, S., Fujita, M., Nagaoka, M., Satomura, Y., Sobue, I., Iizuka, R., Toyokura, Y., Satoyoshi, E.
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<strong>Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study.</strong>
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Acta Neurol. Scand. 89 (suppl. 153): 1-22, 1994.
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[PubMed: 8059595]
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[Full Text: https://doi.org/10.1111/j.1600-0404.1994.tb05401.x]
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<p class="mim-text-font">
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Iizuka, R., Hirayama, K., Maehara, K.
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<strong>Dentatorubro-pallidoluysian atrophy: a clinico-pathological study.</strong>
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J. Neurol. Neurosurg. Psychiat. 47: 1288-1298, 1984.
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[PubMed: 6512549]
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[Full Text: https://doi.org/10.1136/jnnp.47.12.1288]
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<p class="mim-text-font">
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Ikeuchi, T., Igarashi, S., Takiyama, Y., Onodera, O., Oyake, M., Takano, H., Koide, R., Tanaka, H., Tsuji, S.
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<strong>Non-mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.</strong>
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Am. J. Hum. Genet. 58: 730-733, 1996.
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[PubMed: 8644735]
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<p class="mim-text-font">
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|
Iwabuchi, K., Amano, N., Yokoi, S., Nakano, T., Yagishita, S.
|
|
<strong>Two familial cases of dentato-rubro-pallido-luysian atrophy with pseudo-Huntington's chorea.</strong>
|
|
Rinsho Shinkeigaku 25: 1052-1060, 1985. Note: Article in Japanese.
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[PubMed: 2936537]
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</p>
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<p class="mim-text-font">
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Kanazawa, I.
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<strong>Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease.</strong>
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Neurogenetics 2: 1-17, 1998.
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[PubMed: 9933295]
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[Full Text: https://doi.org/10.1007/s100480050046]
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<li>
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<p class="mim-text-font">
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Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F., Tsuji, S.
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<strong>Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).</strong>
|
|
Nature Genet. 6: 9-13, 1994.
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[PubMed: 8136840]
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[Full Text: https://doi.org/10.1038/ng0194-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Komure, O., Sano, A., Nishino, N., Yamauchi, N., Ueno, S., Kondoh, K., Sano, N., Takahashi, M., Murayama, N., Kondo, I., Nagafuchi, S., Yamada, M., Kanazawa, I.
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<strong>DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.</strong>
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Neurology 45: 143-149, 1995.
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[PubMed: 7824105]
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[Full Text: https://doi.org/10.1212/wnl.45.1.143]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Contributors:
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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 : 3/19/2012<br>Marla J. F. O'Neill - updated : 12/28/2005<br>Cassandra L. Kniffin - updated : 12/15/2004<br>Cassandra L. Kniffin - reorganized : 1/24/2003<br>Cassandra L. Kniffin - updated : 1/7/2003<br>Cassandra L. Kniffin - updated : 7/23/2002<br>Stylianos E. Antonarakis - updated : 1/24/2002<br>Wilson H. Y. Lo - updated : 8/10/1999<br>Ada Hamosh - updated : 4/1/1999<br>Victor A. McKusick - updated : 2/18/1999<br>Victor A. McKusick - updated : 2/11/1999<br>Victor A. McKusick - updated : 1/25/1999<br>Stylianos E. Antonarakis - updated : 10/8/1998<br>Victor A. McKusick - updated : 8/26/1998<br>Rebekah S. Rasooly - updated : 4/1/1998<br>Victor A. McKusick - updated : 7/7/1997<br>Orest Hurko - updated : 4/2/1996<br>Moyra Smith - updated : 3/27/1996<br>Orest Hurko - updated : 3/26/1996<br>Moyra Smith - updated : 3/19/1996
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 06/04/2022<br>carol : 03/31/2020<br>alopez : 03/30/2020<br>carol : 04/19/2016<br>ckniffin : 3/19/2012<br>terry : 10/27/2011<br>carol : 1/3/2011<br>carol : 10/4/2010<br>terry : 5/11/2010<br>carol : 9/15/2009<br>carol : 2/9/2009<br>carol : 11/28/2006<br>wwang : 1/3/2006<br>terry : 12/28/2005<br>tkritzer : 12/15/2004<br>ckniffin : 12/15/2004<br>alopez : 10/28/2004<br>carol : 1/24/2003<br>carol : 1/24/2003<br>ckniffin : 1/7/2003<br>ckniffin : 1/7/2003<br>ckniffin : 1/7/2003<br>tkritzer : 8/9/2002<br>ckniffin : 7/23/2002<br>ckniffin : 6/21/2002<br>mgross : 1/24/2002<br>carol : 8/10/1999<br>terry : 4/29/1999<br>mgross : 4/8/1999<br>mgross : 4/2/1999<br>mgross : 4/1/1999<br>mgross : 2/25/1999<br>mgross : 2/19/1999<br>terry : 2/18/1999<br>carol : 2/11/1999<br>carol : 2/8/1999<br>terry : 1/25/1999<br>carol : 10/8/1998<br>carol : 8/27/1998<br>terry : 8/26/1998<br>carol : 5/19/1998<br>psherman : 4/1/1998<br>dholmes : 10/3/1997<br>alopez : 7/7/1997<br>mark : 7/7/1997<br>mark : 7/7/1997<br>mark : 4/27/1996<br>terry : 4/19/1996<br>terry : 4/15/1996<br>mark : 4/2/1996<br>terry : 4/1/1996<br>terry : 3/29/1996<br>mark : 3/27/1996<br>mark : 3/26/1996<br>terry : 3/26/1996<br>terry : 3/26/1996<br>mark : 3/19/1996<br>terry : 3/19/1996<br>mark : 3/19/1996<br>mark : 3/13/1996<br>terry : 3/7/1996<br>mark : 2/22/1996<br>mark : 1/14/1996<br>terry : 11/17/1995<br>mark : 11/13/1995<br>carol : 2/1/1995<br>mimadm : 6/25/1994<br>carol : 12/6/1993
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