2974 lines
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Entry
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- #118700 - CHOREA, BENIGN HEREDITARY; BHC
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- OMIM
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<p>
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<span class="h4">#118700</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/118700"><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="#nomenclature">Nomenclature</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="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CHOREA, BENIGN HEREDITARY" 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=1634&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="https://www.ncbi.nlm.nih.gov/books/NBK185066/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7807" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=118700[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=1429" 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-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:12859" 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/118700" 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://wormbase.org/resources/disease/DOID:12859" 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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<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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<a id="title" class="mim-anchor"></a>
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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> 230306001<br />
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<strong>ORPHA:</strong> 1429<br />
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<strong>DO:</strong> 12859<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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118700
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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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CHOREA, BENIGN HEREDITARY; BHC
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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BCH<br />
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HEREDITARY PROGRESSIVE CHOREA WITHOUT 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">
|
|
<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/14/179?start=-3&limit=10&highlight=179">
|
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14q13.3
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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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Chorea, hereditary benign
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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/118700"> 118700 </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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NKX2-1
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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/600635"> 600635 </a>
|
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</span>
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<a href="/clinicalSynopsis/118700" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/118700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/118700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<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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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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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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<strong> NEUROLOGIC </strong>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Chorea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271700006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271700006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008489</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002072</a>]</span><br /> -
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Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
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Dysarthria may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861571</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
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Gait abnormalities may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861572</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
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Movements are exacerbated by anxiety <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861573</a>]</span><br /> -
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Severity of symptoms peak in the second decade and do not progress <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861574&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861574</a>]</span><br /> -
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No dementia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838634&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838634</a>]</span><br /> -
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Mildly decreased intelligence has been reported <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970097&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970097</a>]</span><br />
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</span>
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</div>
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</div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
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Onset in childhood (usually before age 5 years)<br /> -
|
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Allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (<a href="/entry/610978">610978</a>), which is a more severe disorder<br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the thyroid transcription factor-1 gene (TITF1, <a href="/entry/600635#0001">600635.0001</a>)<br />
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</span>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because some patients with benign hereditary chorea (BHC or BCH) have heterozygous mutations in the NKX2-1 gene (<a href="/entry/600635">600635</a>), encoding thyroid transcription factor-1 (TITF1), on chromosome 14q13.</p><p>See also choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (<a href="/entry/610978">610978</a>), an allelic disorder with a more severe phenotype.</p>
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</span>
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<br />
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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 class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Benign hereditary chorea (BHC) is an autosomal dominant movement disorder that manifests before age 5 years and has a stationary or only slightly progressive course. Intelligence is normal or slightly below normal and mental deterioration is not seen. In some families, the choreic movements decrease during adolescence or early adulthood (summary by <a href="#3" class="mim-tip-reference" title="Breedveld, G. J., Percy, A. K., MacDonald, M. E., de Vries, B. B. A., Yapijakis, C., Dure, L. S., Ippel, E. F., Sandkuijl, L. A., Heutink, P., Arts, W. F. M. <strong>Clinical and genetic heterogeneity in benign hereditary chorea.</strong> Neurology 59: 579-584, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12196653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12196653</a>] [<a href="https://doi.org/10.1212/wnl.59.4.579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12196653">Breedveld et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12196653" 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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<br />
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<a id="nomenclature" class="mim-anchor"></a>
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<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Nomenclature</strong>
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<span class="mim-text-font">
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<p><a href="#17" class="mim-tip-reference" title="Schady, W., Meara, R. J. <strong>Hereditary progressive chorea without dementia.</strong> J. Neurol. Neurosurg. Psychiat. 51: 295-297, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2964512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2964512</a>] [<a href="https://doi.org/10.1136/jnnp.51.2.295" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2964512">Schady and Meara (1988)</a> discussed the use of the label 'benign' and concurred with <a href="#1" class="mim-tip-reference" title="Behan, P. O., Bone, I. <strong>Hereditary chorea without dementia.</strong> J. Neurol. Neurosurg. Psychiat. 40: 687-691, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/144176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">144176</a>] [<a href="https://doi.org/10.1136/jnnp.40.7.687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="144176">Behan and Bone (1977)</a> that the most accurate term was 'hereditary chorea without dementia.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=144176+2964512" 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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<div>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#13" class="mim-tip-reference" title="Pincus, J. H., Chutorian, A. <strong>Familial benign chorea with intention tremor: a clinical entity.</strong> J. Pediat. 70: 724-729, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4225654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4225654</a>] [<a href="https://doi.org/10.1016/s0022-3476(67)80322-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4225654">Pincus and Chutorian (1967)</a> and <a href="#9" class="mim-tip-reference" title="Haerer, A. F., Currier, R. D., Jackson, J. F. <strong>Hereditary nonprogressive chorea of early onset.</strong> New Eng. J. Med. 276: 1220-1224, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4225827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4225827</a>] [<a href="https://doi.org/10.1056/NEJM196706012762202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4225827">Haerer et al. (1967)</a> described an early-onset, nonprogressive form of chorea not associated with intellectual deterioration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4225654+4225827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Robinson, R. O., Thornett, C. E. E. <strong>Benign hereditary chorea--response to steroids.</strong> Dev. Med. Child Neurol. 27: 814-821, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4092854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4092854</a>] [<a href="https://doi.org/10.1111/j.1469-8749.1985.tb03807.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4092854">Robinson and Thornett (1985)</a> reported a 10-year-old boy with this disorder whose father was the only other affected person known in the family. Corticosteroids given in multiple courses for asthma invariably were associated with an abrupt improvement in frequency and amplitude of his chorea. The authors suggested that the improvement resulted from modulation of neurotransmitter function by the agent. <a href="#17" class="mim-tip-reference" title="Schady, W., Meara, R. J. <strong>Hereditary progressive chorea without dementia.</strong> J. Neurol. Neurosurg. Psychiat. 51: 295-297, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2964512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2964512</a>] [<a href="https://doi.org/10.1136/jnnp.51.2.295" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2964512">Schady and Meara (1988)</a> described a family in which chorea began in childhood and affected predominantly the head, face, and arms. Dysarthria appeared later, followed in 2 family members by elements of an axial dystonia. There was no intellectual impairment. Unlike previously described families, symptoms progressed steadily up to the eighth decade, causing considerable physical disability. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2964512+4092854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Kleiner-Fisman, G., Rogaeva, E., Halliday, W., Houle, S., Kawarai, T., Sato, C., Medeiros, H., St. George-Hyslop, P. H., Lang, A. E. <strong>Benign hereditary chorea: clinical, genetic, and pathological findings.</strong> Ann. Neurol. 54: 244-247, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12891678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12891678</a>] [<a href="https://doi.org/10.1002/ana.10637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12891678">Kleiner-Fisman et al. (2003)</a> reported a family in which 5 members over 4 generations had typical features of BHC. Delayed motor development and chorea began in early childhood and followed a slowly progressive course. Neuropathologic examination of 1 patient showed mild frontal-parietal-temporal atrophy, but no other abnormalities, including normal striatum and pigmented substantia nigra. Other regions of the brain showed nonspecific astrocytosis without noticeable neuronal loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12891678" 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>Possible dominant inheritance of BHC was demonstrated in 2 families by <a href="#6" class="mim-tip-reference" title="Chun, R. W. M., Daly, R. F., Mansheim, B. J., Jr., Wolcott, G. J. <strong>Benign familial chorea with onset in childhood.</strong> JAMA 225: 1603-1607, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4269386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4269386</a>]" pmid="4269386">Chun et al. (1973)</a>. <a href="#10" class="mim-tip-reference" title="Harper, P. S. <strong>Benign hereditary chorea: clinical and genetic aspects.</strong> Clin. Genet. 13: 85-95, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/624192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">624192</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1978.tb04133.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="624192">Harper (1978)</a> favored autosomal dominant inheritance with reduced penetrance in females. He pointed out that male-to-male transmission occurred in the families of <a href="#13" class="mim-tip-reference" title="Pincus, J. H., Chutorian, A. <strong>Familial benign chorea with intention tremor: a clinical entity.</strong> J. Pediat. 70: 724-729, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4225654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4225654</a>] [<a href="https://doi.org/10.1016/s0022-3476(67)80322-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4225654">Pincus and Chutorian (1967)</a> and possibly in the family of <a href="#16" class="mim-tip-reference" title="Sadjadpour, K., Amato, R. S. <strong>Hereditary nonprogressive chorea of early onset: a new entity?</strong> Adv. Neurol. 1: 79-91, 1973."None>Sadjadpour and Amato (1973)</a>, excluding X-linked inheritance. Furthermore, X-linked inheritance appears to be excluded by the apparent transmission through an unaffected male in the family of <a href="#13" class="mim-tip-reference" title="Pincus, J. H., Chutorian, A. <strong>Familial benign chorea with intention tremor: a clinical entity.</strong> J. Pediat. 70: 724-729, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4225654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4225654</a>] [<a href="https://doi.org/10.1016/s0022-3476(67)80322-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4225654">Pincus and Chutorian (1967)</a>. Both a dominant and a recessive form (<a href="/entry/215450">215450</a>) may exist. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4269386+624192+4225654" 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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In a study of 5 families with BCH, <a href="#14" class="mim-tip-reference" title="Quarrell, O. W. J., Youngman, S., Sarfarazi, M., Harper, P. S. <strong>Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8).</strong> J. Med. Genet. 25: 191-194, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2895189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2895189</a>] [<a href="https://doi.org/10.1136/jmg.25.3.191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2895189">Quarrell et al. (1988)</a> found that the disorder was not closely linked to the D4S10 marker, thus excluding the possibility that benign hereditary chorea is allelic with Huntington disease. Furthermore, when the expanded repeat sequence was discovered as the basis of Huntington disease, these families were restudied by <a href="#12" class="mim-tip-reference" title="MacMillan, J. C., Morrison, P. J., Nevin, N. C., Shaw, D. J., Harper, P. S., Quarrell, O. W. J., Snell, R. G. <strong>Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.</strong> J. Med. Genet. 30: 1012-1013, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8133497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8133497</a>] [<a href="https://doi.org/10.1136/jmg.30.12.1012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8133497">MacMillan et al. (1993)</a>. In 4 of the families, the (CAG)n repeat was not found; in 1 family, expanded repeats were found. Because of the small size of the family and the uninformativeness of typing, this linkage to 4p16 could not be excluded in the original study of this family. <a href="#19" class="mim-tip-reference" title="Yapijakis, C., Kapaki, E., Zournas, C., Rentzos, M., Loukopoulos, D., Papageorgiou, C. <strong>Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family.</strong> Clin. Genet. 47: 133-138, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7634535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7634535</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb03945.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7634535">Yapijakis et al. (1995)</a> likewise excluded linkage to the HD locus in an affected Greek family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8133497+7634535+2895189" 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>Linkage to 14q</em></strong></p><p>
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In a large Dutch kindred with BHC, <a href="#7" class="mim-tip-reference" title="de Vries, B. B. A., Arts, W. F. M., Breedveld, G. J., Hoogeboom, J. J. M., Niermeijer, M. F., Heutink, P. <strong>Benign hereditary chorea of early onset maps to chromosome 14q.</strong> Am. J. Hum. Genet. 66: 136-142, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10631144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10631144</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10631144[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10631144">de Vries et al. (2000)</a> found strong evidence for linkage between the disorder and markers on 14q (maximum lod score of 6.32 at recombination fraction 0.0). The BHC locus in this family was located between markers D14S49 and D14S1064, a region spanning approximately 20.6 cM and containing several candidate genes involved in the development and/or maintenance of the central nervous system, including glia maturation factor-beta (GMFB; <a href="/entry/601713">601713</a>), GTP cyclohydrolase I (GCH1; <a href="/entry/600225">600225</a>), and SMN-interacting protein-1 (SIP1; <a href="/entry/602595">602595</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10631144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Breedveld, G. J., Percy, A. K., MacDonald, M. E., de Vries, B. B. A., Yapijakis, C., Dure, L. S., Ippel, E. F., Sandkuijl, L. A., Heutink, P., Arts, W. F. M. <strong>Clinical and genetic heterogeneity in benign hereditary chorea.</strong> Neurology 59: 579-584, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12196653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12196653</a>] [<a href="https://doi.org/10.1212/wnl.59.4.579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12196653">Breedveld et al. (2002)</a> reported clinical and genetic heterogeneity in 6 families with BHC and the large Dutch family reported by <a href="#7" class="mim-tip-reference" title="de Vries, B. B. A., Arts, W. F. M., Breedveld, G. J., Hoogeboom, J. J. M., Niermeijer, M. F., Heutink, P. <strong>Benign hereditary chorea of early onset maps to chromosome 14q.</strong> Am. J. Hum. Genet. 66: 136-142, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10631144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10631144</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10631144[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10631144">de Vries et al. (2000)</a>. Three of the 7 families showed linkage to chromosome 14 between markers D14S49 and D14S278, and haplotype analysis narrowed the critical interval for the BHC locus to 8.4 cM. In the remaining 4 families, linkage to 14q was excluded. The 3 families with linkage to 14q had a similar clinical phenotype including onset in infancy and childhood, chorea, and absence of mental deterioration. Other variable features in these families included gait difficulties, pyramidal signs, slow saccades, and abnormal reflexes. The 4 unlinked families had a slightly later age at onset and other signs besides chorea, including myoclonic jerks, dystonia, tremor, and tics. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12196653+10631144" 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="#4" class="mim-tip-reference" title="Breedveld, G. J., van Dongen, J. W. F., Danesino, C., Guala, A., Percy, A. K., Dure, L. S., Harper, P., Lazarou, L. P., van der Linde, H., Joosse, M., Gruters, A., MacDonald, M. E., de Vries, B. B. A., Arts, W. F. M., Oostra, B. A., Krude, H., Heutink, P. <strong>Mutations in TITF-1 are associated with benign hereditary chorea.</strong> Hum. Molec. Genet. 11: 971-979, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11971878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11971878</a>] [<a href="https://doi.org/10.1093/hmg/11.8.971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11971878">Breedveld et al. (2002)</a> reported a small BHC family with a de novo deletion of 1.2 Mb, including the TITF1 gene (<a href="/entry/600635#0001">600635.0001</a>). They also described 3 other multigenerational families with BHC who had heterozygous point mutations in the TITF1 gene (<a href="/entry/600635#0002">600635.0002</a>-<a href="/entry/600635#0004">600635.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11971878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a family with BHC, <a href="#11" class="mim-tip-reference" title="Kleiner-Fisman, G., Rogaeva, E., Halliday, W., Houle, S., Kawarai, T., Sato, C., Medeiros, H., St. George-Hyslop, P. H., Lang, A. E. <strong>Benign hereditary chorea: clinical, genetic, and pathological findings.</strong> Ann. Neurol. 54: 244-247, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12891678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12891678</a>] [<a href="https://doi.org/10.1002/ana.10637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12891678">Kleiner-Fisman et al. (2003)</a> identified a heterozygous mutation in the TITF1 gene (<a href="/entry/600635#0007">600635.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12891678" 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="#8" class="mim-tip-reference" title="Fernandez, M., Raskind, W., Matsushita, M., Wolff, J., Lipe, H., Bird, T. <strong>Hereditary benign chorea: clinical and genetic features of a distinct disease.</strong> Neurology 57: 106-110, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445636</a>] [<a href="https://doi.org/10.1212/wnl.57.1.106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11445636">Fernandez et al. (2001)</a> reported a multigenerational American family of English descent with a phenotype consistent with BCH that showed suggestive linkage to 14q. The family had previously been reported by <a href="#2" class="mim-tip-reference" title="Bird, T. D., Carlson, C. B., Hall, J. G. <strong>Familial essential ('benign') chorea.</strong> J. Med. Genet. 13: 357-362, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1003446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1003446</a>] [<a href="https://doi.org/10.1136/jmg.13.5.357" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1003446">Bird et al. (1976)</a>. Linkage analysis by <a href="#8" class="mim-tip-reference" title="Fernandez, M., Raskind, W., Matsushita, M., Wolff, J., Lipe, H., Bird, T. <strong>Hereditary benign chorea: clinical and genetic features of a distinct disease.</strong> Neurology 57: 106-110, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445636</a>] [<a href="https://doi.org/10.1212/wnl.57.1.106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11445636">Fernandez et al. (2001)</a> identified a 6.93-cM candidate region between D14S1068 and D14S1064 (maximum multipoint lod score of 1.39; nonparametric lod score of 3.01). Both the SIP1 and GCH1 genes were excluded in this family. Despite these initial linkage studies, the family reported by <a href="#8" class="mim-tip-reference" title="Fernandez, M., Raskind, W., Matsushita, M., Wolff, J., Lipe, H., Bird, T. <strong>Hereditary benign chorea: clinical and genetic features of a distinct disease.</strong> Neurology 57: 106-110, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445636</a>] [<a href="https://doi.org/10.1212/wnl.57.1.106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11445636">Fernandez et al. (2001)</a> was subsequently found by <a href="#5" class="mim-tip-reference" title="Chen, D.-H., Meneret, A., Friedman, J. R., Korvatska, O., Gad, A., Bonkowski, E. S., Stessman, H. A., Doummar, D., Mignot, C., Anheim, M., Bernes, S., Davis, M. Y., and 19 others. <strong>ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations.</strong> Neurology 85: 2026-2035, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26537056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26537056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26537056[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0000000000002058" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26537056">Chen et al. (2015)</a> to carry a heterozygous mutation in the ADCY5 gene (A726T; <a href="/entry/600293#0001">600293.0001</a>) on chromosome 3q21. These findings indicated that the diagnosis was not BCH, but rather a genetically distinct hyperkinetic movement disorder (DSKOD; <a href="/entry/606703">606703</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1003446+26537056+11445636" 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 href="#Stapert1985" class="mim-tip-reference" title="Stapert, J. L. R. H., Busard, B. L. S. M., Gabreels, F. J. M., Renier, W. O., Colon, E. J., Verhey, F. H. M. <strong>Benign (nonparoxysmal) familial chorea of early onset: an electroneurophysiological examination of two families.</strong> Brain Dev. 7: 38-42, 1985.">Stapert et al. (1985)</a>
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Behan, P. O., Bone, I.
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<strong>Hereditary chorea without dementia.</strong>
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J. Neurol. Neurosurg. Psychiat. 40: 687-691, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/144176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">144176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=144176" 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/10.1136/jnnp.40.7.687" target="_blank">Full Text</a>]
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Bird, T. D., Carlson, C. B., Hall, J. G.
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<strong>Familial essential ('benign') chorea.</strong>
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J. Med. Genet. 13: 357-362, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1003446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1003446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1003446" 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/10.1136/jmg.13.5.357" target="_blank">Full Text</a>]
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Breedveld, G. J., Percy, A. K., MacDonald, M. E., de Vries, B. B. A., Yapijakis, C., Dure, L. S., Ippel, E. F., Sandkuijl, L. A., Heutink, P., Arts, W. F. M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12196653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12196653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12196653" 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/10.1212/wnl.59.4.579" target="_blank">Full Text</a>]
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Breedveld, G. J., van Dongen, J. W. F., Danesino, C., Guala, A., Percy, A. K., Dure, L. S., Harper, P., Lazarou, L. P., van der Linde, H., Joosse, M., Gruters, A., MacDonald, M. E., de Vries, B. B. A., Arts, W. F. M., Oostra, B. A., Krude, H., Heutink, P.
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<strong>Mutations in TITF-1 are associated with benign hereditary chorea.</strong>
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Hum. Molec. Genet. 11: 971-979, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11971878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11971878</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11971878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Chen, D.-H., Meneret, A., Friedman, J. R., Korvatska, O., Gad, A., Bonkowski, E. S., Stessman, H. A., Doummar, D., Mignot, C., Anheim, M., Bernes, S., Davis, M. Y., and 19 others.
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<strong>ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations.</strong>
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Neurology 85: 2026-2035, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26537056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26537056</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26537056[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26537056" 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/10.1212/WNL.0000000000002058" target="_blank">Full Text</a>]
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Chun, R. W. M., Daly, R. F., Mansheim, B. J., Jr., Wolcott, G. J.
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<strong>Benign familial chorea with onset in childhood.</strong>
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JAMA 225: 1603-1607, 1973.
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de Vries, B. B. A., Arts, W. F. M., Breedveld, G. J., Hoogeboom, J. J. M., Niermeijer, M. F., Heutink, P.
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<strong>Benign hereditary chorea of early onset maps to chromosome 14q.</strong>
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Am. J. Hum. Genet. 66: 136-142, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10631144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10631144</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10631144[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10631144" 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/10.1086/302725" target="_blank">Full Text</a>]
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Fernandez, M., Raskind, W., Matsushita, M., Wolff, J., Lipe, H., Bird, T.
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<strong>Hereditary benign chorea: clinical and genetic features of a distinct disease.</strong>
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Neurology 57: 106-110, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11445636" 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/10.1212/wnl.57.1.106" target="_blank">Full Text</a>]
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Haerer, A. F., Currier, R. D., Jackson, J. F.
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<strong>Hereditary nonprogressive chorea of early onset.</strong>
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New Eng. J. Med. 276: 1220-1224, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4225827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4225827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4225827" 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/10.1056/NEJM196706012762202" target="_blank">Full Text</a>]
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Harper, P. S.
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<strong>Benign hereditary chorea: clinical and genetic aspects.</strong>
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Clin. Genet. 13: 85-95, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/624192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">624192</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=624192" 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/10.1111/j.1399-0004.1978.tb04133.x" target="_blank">Full Text</a>]
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Kleiner-Fisman, G., Rogaeva, E., Halliday, W., Houle, S., Kawarai, T., Sato, C., Medeiros, H., St. George-Hyslop, P. H., Lang, A. E.
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<strong>Benign hereditary chorea: clinical, genetic, and pathological findings.</strong>
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Ann. Neurol. 54: 244-247, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12891678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12891678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12891678" 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.10637" target="_blank">Full Text</a>]
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MacMillan, J. C., Morrison, P. J., Nevin, N. C., Shaw, D. J., Harper, P. S., Quarrell, O. W. J., Snell, R. G.
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<strong>Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8133497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8133497</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8133497" 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/10.1136/jmg.30.12.1012" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Pincus1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pincus, J. H., Chutorian, A.
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<strong>Familial benign chorea with intention tremor: a clinical entity.</strong>
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J. Pediat. 70: 724-729, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4225654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4225654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4225654" 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/s0022-3476(67)80322-6" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Quarrell1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Quarrell, O. W. J., Youngman, S., Sarfarazi, M., Harper, P. S.
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<strong>Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8).</strong>
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J. Med. Genet. 25: 191-194, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2895189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2895189</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2895189" 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/10.1136/jmg.25.3.191" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Robinson1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Robinson, R. O., Thornett, C. E. E.
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<strong>Benign hereditary chorea--response to steroids.</strong>
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Dev. Med. Child Neurol. 27: 814-821, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4092854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4092854</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4092854" 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/10.1111/j.1469-8749.1985.tb03807.x" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Sadjadpour1973" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sadjadpour, K., Amato, R. S.
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<strong>Hereditary nonprogressive chorea of early onset: a new entity?</strong>
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Adv. Neurol. 1: 79-91, 1973.
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<a id="17" class="mim-anchor"></a>
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<a id="Schady1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schady, W., Meara, R. J.
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<strong>Hereditary progressive chorea without dementia.</strong>
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J. Neurol. Neurosurg. Psychiat. 51: 295-297, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2964512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2964512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2964512" 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/10.1136/jnnp.51.2.295" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Stapert1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stapert, J. L. R. H., Busard, B. L. S. M., Gabreels, F. J. M., Renier, W. O., Colon, E. J., Verhey, F. H. M.
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<strong>Benign (nonparoxysmal) familial chorea of early onset: an electroneurophysiological examination of two families.</strong>
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Brain Dev. 7: 38-42, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3159307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3159307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3159307" 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/s0387-7604(85)80056-5" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Yapijakis1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yapijakis, C., Kapaki, E., Zournas, C., Rentzos, M., Loukopoulos, D., Papageorgiou, C.
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<strong>Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family.</strong>
|
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Clin. Genet. 47: 133-138, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7634535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7634535</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7634535" 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/10.1111/j.1399-0004.1995.tb03945.x" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 12/07/2021
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/22/2005<br>Cassandra L. Kniffin - reorganized : 12/29/2003<br>Cassandra L. Kniffin - updated : 12/24/2003<br>George E. Tiller - updated : 12/17/2002<br>Cassandra L. Kniffin - updated : 11/8/2002<br>Victor A. McKusick - updated : 12/29/1999
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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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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Victor A. McKusick : 6/4/1986
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alopez : 12/09/2021
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<span class="mim-text-font">
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alopez : 12/08/2021<br>ckniffin : 12/07/2021<br>carol : 01/29/2020<br>carol : 01/28/2020<br>wwang : 03/12/2010<br>terry : 6/3/2009<br>wwang : 5/2/2007<br>ckniffin : 4/26/2007<br>wwang : 12/7/2005<br>ckniffin : 11/22/2005<br>carol : 12/29/2003<br>ckniffin : 12/24/2003<br>cwells : 12/17/2002<br>carol : 11/13/2002<br>ckniffin : 11/8/2002<br>ckniffin : 11/8/2002<br>carol : 2/21/2002<br>terry : 2/10/2000<br>mgross : 1/3/2000<br>terry : 12/29/1999<br>terry : 4/30/1999<br>mark : 6/8/1995<br>davew : 8/17/1994<br>mimadm : 6/25/1994<br>terry : 5/16/1994<br>carol : 1/19/1994<br>carol : 3/31/1992
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<span class="mim-font">
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<strong>#</strong> 118700
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<h3>
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<span class="mim-font">
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CHOREA, BENIGN HEREDITARY; BHC
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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BCH<br />
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HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 230306001;
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<strong>ORPHA:</strong> 1429;
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<strong>DO:</strong> 12859;
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<strong>Phenotype-Gene Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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14q13.3
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<td>
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<span class="mim-font">
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Chorea, hereditary benign
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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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118700
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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NKX2-1
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<span class="mim-font">
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600635
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because some patients with benign hereditary chorea (BHC or BCH) have heterozygous mutations in the NKX2-1 gene (600635), encoding thyroid transcription factor-1 (TITF1), on chromosome 14q13.</p><p>See also choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), an allelic disorder with a more severe phenotype.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Benign hereditary chorea (BHC) is an autosomal dominant movement disorder that manifests before age 5 years and has a stationary or only slightly progressive course. Intelligence is normal or slightly below normal and mental deterioration is not seen. In some families, the choreic movements decrease during adolescence or early adulthood (summary by Breedveld et al., 2002). </p>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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<span class="mim-text-font">
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<p>Schady and Meara (1988) discussed the use of the label 'benign' and concurred with Behan and Bone (1977) that the most accurate term was 'hereditary chorea without dementia.' </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Pincus and Chutorian (1967) and Haerer et al. (1967) described an early-onset, nonprogressive form of chorea not associated with intellectual deterioration. </p><p>Robinson and Thornett (1985) reported a 10-year-old boy with this disorder whose father was the only other affected person known in the family. Corticosteroids given in multiple courses for asthma invariably were associated with an abrupt improvement in frequency and amplitude of his chorea. The authors suggested that the improvement resulted from modulation of neurotransmitter function by the agent. Schady and Meara (1988) described a family in which chorea began in childhood and affected predominantly the head, face, and arms. Dysarthria appeared later, followed in 2 family members by elements of an axial dystonia. There was no intellectual impairment. Unlike previously described families, symptoms progressed steadily up to the eighth decade, causing considerable physical disability. </p><p>Kleiner-Fisman et al. (2003) reported a family in which 5 members over 4 generations had typical features of BHC. Delayed motor development and chorea began in early childhood and followed a slowly progressive course. Neuropathologic examination of 1 patient showed mild frontal-parietal-temporal atrophy, but no other abnormalities, including normal striatum and pigmented substantia nigra. Other regions of the brain showed nonspecific astrocytosis without noticeable neuronal loss. </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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<h4>
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<span class="mim-font">
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<strong>Inheritance</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>Possible dominant inheritance of BHC was demonstrated in 2 families by Chun et al. (1973). Harper (1978) favored autosomal dominant inheritance with reduced penetrance in females. He pointed out that male-to-male transmission occurred in the families of Pincus and Chutorian (1967) and possibly in the family of Sadjadpour and Amato (1973), excluding X-linked inheritance. Furthermore, X-linked inheritance appears to be excluded by the apparent transmission through an unaffected male in the family of Pincus and Chutorian (1967). Both a dominant and a recessive form (215450) may exist. </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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<h4>
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<span class="mim-font">
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<strong>Mapping</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><strong><em>Exclusion Linkage</em></strong></p><p>
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In a study of 5 families with BCH, Quarrell et al. (1988) found that the disorder was not closely linked to the D4S10 marker, thus excluding the possibility that benign hereditary chorea is allelic with Huntington disease. Furthermore, when the expanded repeat sequence was discovered as the basis of Huntington disease, these families were restudied by MacMillan et al. (1993). In 4 of the families, the (CAG)n repeat was not found; in 1 family, expanded repeats were found. Because of the small size of the family and the uninformativeness of typing, this linkage to 4p16 could not be excluded in the original study of this family. Yapijakis et al. (1995) likewise excluded linkage to the HD locus in an affected Greek family. </p><p><strong><em>Linkage to 14q</em></strong></p><p>
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In a large Dutch kindred with BHC, de Vries et al. (2000) found strong evidence for linkage between the disorder and markers on 14q (maximum lod score of 6.32 at recombination fraction 0.0). The BHC locus in this family was located between markers D14S49 and D14S1064, a region spanning approximately 20.6 cM and containing several candidate genes involved in the development and/or maintenance of the central nervous system, including glia maturation factor-beta (GMFB; 601713), GTP cyclohydrolase I (GCH1; 600225), and SMN-interacting protein-1 (SIP1; 602595). </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
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Breedveld et al. (2002) reported clinical and genetic heterogeneity in 6 families with BHC and the large Dutch family reported by de Vries et al. (2000). Three of the 7 families showed linkage to chromosome 14 between markers D14S49 and D14S278, and haplotype analysis narrowed the critical interval for the BHC locus to 8.4 cM. In the remaining 4 families, linkage to 14q was excluded. The 3 families with linkage to 14q had a similar clinical phenotype including onset in infancy and childhood, chorea, and absence of mental deterioration. Other variable features in these families included gait difficulties, pyramidal signs, slow saccades, and abnormal reflexes. The 4 unlinked families had a slightly later age at onset and other signs besides chorea, including myoclonic jerks, dystonia, tremor, and tics. </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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<h4>
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<span class="mim-font">
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<strong>Molecular 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>Breedveld et al. (2002) reported a small BHC family with a de novo deletion of 1.2 Mb, including the TITF1 gene (600635.0001). They also described 3 other multigenerational families with BHC who had heterozygous point mutations in the TITF1 gene (600635.0002-600635.0004). </p><p>In a family with BHC, Kleiner-Fisman et al. (2003) identified a heterozygous mutation in the TITF1 gene (600635.0007). </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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<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>Fernandez et al. (2001) reported a multigenerational American family of English descent with a phenotype consistent with BCH that showed suggestive linkage to 14q. The family had previously been reported by Bird et al. (1976). Linkage analysis by Fernandez et al. (2001) identified a 6.93-cM candidate region between D14S1068 and D14S1064 (maximum multipoint lod score of 1.39; nonparametric lod score of 3.01). Both the SIP1 and GCH1 genes were excluded in this family. Despite these initial linkage studies, the family reported by Fernandez et al. (2001) was subsequently found by Chen et al. (2015) to carry a heterozygous mutation in the ADCY5 gene (A726T; 600293.0001) on chromosome 3q21. These findings indicated that the diagnosis was not BCH, but rather a genetically distinct hyperkinetic movement disorder (DSKOD; 606703). </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>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Stapert et al. (1985)
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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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Behan, P. O., Bone, I.
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<strong>Hereditary chorea without dementia.</strong>
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J. Neurol. Neurosurg. Psychiat. 40: 687-691, 1977.
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[PubMed: 144176]
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[Full Text: https://doi.org/10.1136/jnnp.40.7.687]
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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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Bird, T. D., Carlson, C. B., Hall, J. G.
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<strong>Familial essential ('benign') chorea.</strong>
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J. Med. Genet. 13: 357-362, 1976.
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[PubMed: 1003446]
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[Full Text: https://doi.org/10.1136/jmg.13.5.357]
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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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Breedveld, G. J., Percy, A. K., MacDonald, M. E., de Vries, B. B. A., Yapijakis, C., Dure, L. S., Ippel, E. F., Sandkuijl, L. A., Heutink, P., Arts, W. F. M.
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<strong>Clinical and genetic heterogeneity in benign hereditary chorea.</strong>
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Neurology 59: 579-584, 2002.
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[PubMed: 12196653]
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[Full Text: https://doi.org/10.1212/wnl.59.4.579]
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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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Breedveld, G. J., van Dongen, J. W. F., Danesino, C., Guala, A., Percy, A. K., Dure, L. S., Harper, P., Lazarou, L. P., van der Linde, H., Joosse, M., Gruters, A., MacDonald, M. E., de Vries, B. B. A., Arts, W. F. M., Oostra, B. A., Krude, H., Heutink, P.
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<strong>Mutations in TITF-1 are associated with benign hereditary chorea.</strong>
|
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Hum. Molec. Genet. 11: 971-979, 2002.
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[PubMed: 11971878]
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[Full Text: https://doi.org/10.1093/hmg/11.8.971]
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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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Chen, D.-H., Meneret, A., Friedman, J. R., Korvatska, O., Gad, A., Bonkowski, E. S., Stessman, H. A., Doummar, D., Mignot, C., Anheim, M., Bernes, S., Davis, M. Y., and 19 others.
|
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<strong>ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations.</strong>
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Neurology 85: 2026-2035, 2015.
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[PubMed: 26537056]
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[Full Text: https://doi.org/10.1212/WNL.0000000000002058]
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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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Chun, R. W. M., Daly, R. F., Mansheim, B. J., Jr., Wolcott, G. J.
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<strong>Benign familial chorea with onset in childhood.</strong>
|
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JAMA 225: 1603-1607, 1973.
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[PubMed: 4269386]
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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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de Vries, B. B. A., Arts, W. F. M., Breedveld, G. J., Hoogeboom, J. J. M., Niermeijer, M. F., Heutink, P.
|
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<strong>Benign hereditary chorea of early onset maps to chromosome 14q.</strong>
|
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Am. J. Hum. Genet. 66: 136-142, 2000.
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[PubMed: 10631144]
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[Full Text: https://doi.org/10.1086/302725]
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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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Fernandez, M., Raskind, W., Matsushita, M., Wolff, J., Lipe, H., Bird, T.
|
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<strong>Hereditary benign chorea: clinical and genetic features of a distinct disease.</strong>
|
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Neurology 57: 106-110, 2001.
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[PubMed: 11445636]
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[Full Text: https://doi.org/10.1212/wnl.57.1.106]
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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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Haerer, A. F., Currier, R. D., Jackson, J. F.
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<strong>Hereditary nonprogressive chorea of early onset.</strong>
|
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New Eng. J. Med. 276: 1220-1224, 1967.
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[PubMed: 4225827]
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[Full Text: https://doi.org/10.1056/NEJM196706012762202]
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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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Harper, P. S.
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<strong>Benign hereditary chorea: clinical and genetic aspects.</strong>
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Clin. Genet. 13: 85-95, 1978.
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[PubMed: 624192]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1978.tb04133.x]
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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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Kleiner-Fisman, G., Rogaeva, E., Halliday, W., Houle, S., Kawarai, T., Sato, C., Medeiros, H., St. George-Hyslop, P. H., Lang, A. E.
|
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<strong>Benign hereditary chorea: clinical, genetic, and pathological findings.</strong>
|
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Ann. Neurol. 54: 244-247, 2003.
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[PubMed: 12891678]
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[Full Text: https://doi.org/10.1002/ana.10637]
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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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MacMillan, J. C., Morrison, P. J., Nevin, N. C., Shaw, D. J., Harper, P. S., Quarrell, O. W. J., Snell, R. G.
|
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<strong>Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.</strong>
|
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J. Med. Genet. 30: 1012-1013, 1993.
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[PubMed: 8133497]
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[Full Text: https://doi.org/10.1136/jmg.30.12.1012]
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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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Pincus, J. H., Chutorian, A.
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<strong>Familial benign chorea with intention tremor: a clinical entity.</strong>
|
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J. Pediat. 70: 724-729, 1967.
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[PubMed: 4225654]
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[Full Text: https://doi.org/10.1016/s0022-3476(67)80322-6]
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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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Quarrell, O. W. J., Youngman, S., Sarfarazi, M., Harper, P. S.
|
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<strong>Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8).</strong>
|
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J. Med. Genet. 25: 191-194, 1988.
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[PubMed: 2895189]
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[Full Text: https://doi.org/10.1136/jmg.25.3.191]
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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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Robinson, R. O., Thornett, C. E. E.
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<strong>Benign hereditary chorea--response to steroids.</strong>
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Dev. Med. Child Neurol. 27: 814-821, 1985.
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[PubMed: 4092854]
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[Full Text: https://doi.org/10.1111/j.1469-8749.1985.tb03807.x]
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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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Sadjadpour, K., Amato, R. S.
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<strong>Hereditary nonprogressive chorea of early onset: a new entity?</strong>
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Adv. Neurol. 1: 79-91, 1973.
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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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Schady, W., Meara, R. J.
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<strong>Hereditary progressive chorea without dementia.</strong>
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J. Neurol. Neurosurg. Psychiat. 51: 295-297, 1988.
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[PubMed: 2964512]
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[Full Text: https://doi.org/10.1136/jnnp.51.2.295]
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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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Stapert, J. L. R. H., Busard, B. L. S. M., Gabreels, F. J. M., Renier, W. O., Colon, E. J., Verhey, F. H. M.
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<strong>Benign (nonparoxysmal) familial chorea of early onset: an electroneurophysiological examination of two families.</strong>
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Brain Dev. 7: 38-42, 1985.
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[PubMed: 3159307]
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[Full Text: https://doi.org/10.1016/s0387-7604(85)80056-5]
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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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Yapijakis, C., Kapaki, E., Zournas, C., Rentzos, M., Loukopoulos, D., Papageorgiou, C.
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<strong>Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family.</strong>
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Clin. Genet. 47: 133-138, 1995.
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[PubMed: 7634535]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb03945.x]
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</p>
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</li>
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</ol>
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<div>
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</div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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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 : 12/07/2021<br>Cassandra L. Kniffin - updated : 11/22/2005<br>Cassandra L. Kniffin - reorganized : 12/29/2003<br>Cassandra L. Kniffin - updated : 12/24/2003<br>George E. Tiller - updated : 12/17/2002<br>Cassandra L. Kniffin - updated : 11/8/2002<br>Victor A. McKusick - updated : 12/29/1999
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</span>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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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Victor A. McKusick : 6/4/1986
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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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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alopez : 12/09/2021<br>alopez : 12/08/2021<br>ckniffin : 12/07/2021<br>carol : 01/29/2020<br>carol : 01/28/2020<br>wwang : 03/12/2010<br>terry : 6/3/2009<br>wwang : 5/2/2007<br>ckniffin : 4/26/2007<br>wwang : 12/7/2005<br>ckniffin : 11/22/2005<br>carol : 12/29/2003<br>ckniffin : 12/24/2003<br>cwells : 12/17/2002<br>carol : 11/13/2002<br>ckniffin : 11/8/2002<br>ckniffin : 11/8/2002<br>carol : 2/21/2002<br>terry : 2/10/2000<br>mgross : 1/3/2000<br>terry : 12/29/1999<br>terry : 4/30/1999<br>mark : 6/8/1995<br>davew : 8/17/1994<br>mimadm : 6/25/1994<br>terry : 5/16/1994<br>carol : 1/19/1994<br>carol : 3/31/1992
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