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Entry
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- #200150 - CHOREOACANTHOCYTOSIS; CHAC
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- OMIM
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<p>
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<span class="h4">#200150</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/200150"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</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="#nomenclature">Nomenclature</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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CHOREOACANTHOCYTOSIS" 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=2219&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/NBK1387/" 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/1384" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/chorea-acanthocytosis" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=200150[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=2388" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/cd23a9bd-67b4-4837-9dd1-083ac109a7b2/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050766" 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/200150" 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:0050766" 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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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 66881004<br />
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<strong>ORPHA:</strong> 2388<br />
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<strong>DO:</strong> 0050766<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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200150
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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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CHOREOACANTHOCYTOSIS; CHAC
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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>
|
|
<span class="mim-font">
|
|
CHOREA-ACANTHOCYTOSIS<br />
|
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ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER<br />
|
|
LEVINE-CRITCHLEY SYNDROME, FORMERLY<br />
|
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NEUROACANTHOCYTOSIS, FORMERLY
|
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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>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</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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</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/9/257?start=-3&limit=10&highlight=257">
|
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9q21.2
|
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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">
|
|
Choreoacanthocytosis
|
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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/200150"> 200150 </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 recessive">AR</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">
|
|
VPS13A
|
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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/605978"> 605978 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/200150" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/200150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/200150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Orofacial dyskinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49386006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49386006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152115&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152115</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002310</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neck flexion, intermittent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277721&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277721</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br /> -
|
|
Drooling <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62718007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62718007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002307</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003781" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003781</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002307</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Limb muscular atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806137</a>]</span><br /> -
|
|
Limb muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/713514005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">713514005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0587246&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0587246</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003690" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003690</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003690" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003690</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Progressive choreoathetosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860216&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860216</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007326</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007326</a>]</span><br /> -
|
|
Orofacial dyskinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49386006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49386006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152115&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152115</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002310</a>]</span><br /> -
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Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
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Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
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Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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Tics <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386783003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386783003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402732001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402732001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/568005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">568005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F95.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F95.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F95" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F95</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/307.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">307.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/307.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">307.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040188&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040188</a>, <a href="https://bioportal.bioontology.org/search?q=C2169806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2169806</a>, <a href="https://bioportal.bioontology.org/search?q=C0278076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0278076</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100033" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100033</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100033" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100033</a>]</span><br /> -
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Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
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Parkinsonism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32798002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32798002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G20.C" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G20.C</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span><br /> -
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Caudate atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858116&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858116</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002340</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002340</a>]</span><br /> -
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Putamen atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860217</a>]</span><br /> -
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Dementia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br />
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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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<em> Peripheral Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
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Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Behavioral Psychiatric Manifestations </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Personality changes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192073007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192073007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/102943000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">102943000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240735</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000751</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000751</a>]</span><br /> -
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Mood changes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18963009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18963009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R45.86" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R45.86</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085633</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000712</a>]</span><br /> -
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Anxiety <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>, <a href="https://bioportal.bioontology.org/search?q=C0003467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003467</a>, <a href="https://bioportal.bioontology.org/search?q=C0860603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span><br /> -
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Disinhibition <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247977003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247977003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66347000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66347000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40662008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40662008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F63.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/312.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">312.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021122&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021122</a>, <a href="https://bioportal.bioontology.org/search?q=C0234410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234410</a>, <a href="https://bioportal.bioontology.org/search?q=C0424296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424296</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:5200029" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:5200029</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000734</a>]</span><br /> -
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Psychosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191525009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191525009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69322001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69322001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F29</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/298.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">298.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290-299.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290-299.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349204&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349204</a>, <a href="https://bioportal.bioontology.org/search?q=C0033975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033975</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span><br /> -
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Aggressiveness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61372001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61372001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001807</a>, <a href="https://bioportal.bioontology.org/search?q=C1457883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1457883</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006919</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span><br /> -
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Self-mutilation of tongue and lips due to involuntary movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860219</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008767</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008767</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> HEMATOLOGY </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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- Acanthocytes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/250249008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">250249008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63599005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63599005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0687751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0687751</a>, <a href="https://bioportal.bioontology.org/search?q=C0000886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001927" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001927</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001927" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001927</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> LABORATORY ABNORMALITIES </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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- Increased creatine kinase <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432352001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432352001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853034</a>, <a href="https://bioportal.bioontology.org/search?q=C0151576&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151576</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br /> -
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Normal serum lipoprotein levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860220</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<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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- Age of onset 23-59 years<br /> -
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Clinical variability<br /> -
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
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Neurologic findings closely resemble those of Huntington disease (HD, <a href="/entry/143100">143100</a>)<br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the vacuolar protein sorting 13A gene (VPS13A, <a href="/entry/605978#0001">605978.0001</a>)<br />
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</span>
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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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<br />
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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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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that choreoacanthocytosis (CHAC) is caused by homozygous or compound heterozygous mutation in the VPS13A gene (<a href="/entry/605978">605978</a>), which encodes chorein, on chromosome 9q21.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Choreoacanthocytosis (CHAC) is an autosomal recessive disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life (<a href="#26" class="mim-tip-reference" title="Rubio, J. P., Danek, A., Stone, C., Chalmers, R., Wood, N., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Manfredi, M., Vance, J., Pericak-Vance, M., Brown, R., Rudolf, G., Picard, F., Alonso, E., Brin, M., Nemeth, A. H., Farrall, M., Monaco, A. P. <strong>Chorea-acanthocytosis: genetic linkage to chromosome 9q21.</strong> Am. J. Hum. Genet. 61: 899-908, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382101</a>] [<a href="https://doi.org/10.1086/514876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382101">Rubio et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382101" 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>See also McLeod syndrome (<a href="/entry/300842">300842</a>) for a phenotypically similar disorder.</p>
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<p>Critchley et al. (<a href="#7" class="mim-tip-reference" title="Critchley, E. M. R., Clark, D. B., Wikler, A. <strong>An adult form of acanthocytosis.</strong> Trans. Am. Neurol. Assoc. 92: 132-137, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4255726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4255726</a>]" pmid="4255726">1967</a>, <a href="#8" class="mim-tip-reference" title="Critchley, E. M. R., Clark, D. B., Wikler, A. <strong>Acanthocytosis and neurological disorder without betalipoproteinemia.</strong> Arch. Neurol. 18: 134-140, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5636069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5636069</a>] [<a href="https://doi.org/10.1001/archneur.1968.00470320036004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5636069">1968</a>) described an adult form of acanthocytosis associated with neurologic abnormalities and apparently normal serum lipoproteins. The proband had onset in his mid-twenties of generalized weakness and involuntary movements, including grimacing, dystonia, and chorea. Orofacial movements were especially dramatic, and the patient had multiple bite lesions on his lips, tongue, and cheeks. The neurologic manifestations resembled those of the Gilles de la Tourette syndrome (<a href="/entry/137580">137580</a>) or Huntington disease (<a href="/entry/143100">143100</a>). Four of the proband's sibs had neurologic manifestations. A niece had acanthocytes and a neurologic disorder suggesting Friedreich ataxia (<a href="/entry/229300">229300</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5636069+4255726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Critchley, E. M. R., Betts, J. J., Nicholson, J. T., Weatherall, D. J. <strong>Acanthocytosis, normolipoproteinaemia and multiple tics.</strong> Postgrad. Med. J. 46: 698-701, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5492702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5492702</a>] [<a href="https://doi.org/10.1136/pgmj.46.542.698" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5492702">Critchley et al. (1970)</a> reported a single case from England, a woman who showed self-mutilation of the tongue, lips, and cheeks. Another family was reported by <a href="#1" class="mim-tip-reference" title="Aminoff, M. J. <strong>Acanthocytosis and neurological disease.</strong> Brain 95: 749-760, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4647152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4647152</a>] [<a href="https://doi.org/10.1093/brain/95.4.749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4647152">Aminoff (1972)</a>. Wasting of girdle and proximal limb muscles, absent tendon reflexes, and disturbance of bladder function were other features. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5492702+4647152" 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="#4" class="mim-tip-reference" title="Cederbaum, S. J., Heywood, D., Aigner, R., Motulsky, A. G. <strong>Progressive chorea, dementia and acanthocytosis: a genocopy of Huntington's chorea. (Abstract)</strong> Clin. Res. 19: 177 only, 1971."None>Cederbaum et al. (1971)</a> and <a href="#3" class="mim-tip-reference" title="Bird, T. D., Cederbaum, S. D., Valpey, R. W., Stahl, W. L. <strong>Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological and neurochemical study.</strong> Ann. Neurol. 3: 253-258, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/666266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">666266</a>] [<a href="https://doi.org/10.1002/ana.410030312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="666266">Bird et al. (1978)</a> observed a consanguineous family in which 3 adult sibs developed progressive chorea and dementia similar to Huntington disease (<a href="/entry/143100">143100</a>), but with acanthocytes in the peripheral blood. No malabsorption or abnormalities of serum beta-lipoprotein were found. The proband was a 41-year-old male, and an affected brother and sister had died at ages 32 and 39 years. Postmortem examination showed marked neuronal loss and gliosis of the caudate and putamen. Two children of the proband were healthy. The authors suggested that the same disorder may have been present in the family of <a href="#7" class="mim-tip-reference" title="Critchley, E. M. R., Clark, D. B., Wikler, A. <strong>An adult form of acanthocytosis.</strong> Trans. Am. Neurol. Assoc. 92: 132-137, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4255726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4255726</a>]" pmid="4255726">Critchley et al. (1967)</a>, although the pattern of inheritance in that family appeared to be autosomal dominant. In a patient with acanthocytosis and degeneration of the basal ganglia, <a href="#5" class="mim-tip-reference" title="Copeland, B. R., Todd, S. A., Furlong, C. E. <strong>High resolution two-dimensional gel electrophoresis of human erythrocyte membrane proteins.</strong> Am. J. Hum. Genet. 34: 15-31, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7081216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7081216</a>]" pmid="7081216">Copeland et al. (1982)</a> found an abnormally high level of a protein in the 100,000 MW range on 2-D O'Farrell gel electrophoresis of red cell membranes. This patient was from the family reported by <a href="#3" class="mim-tip-reference" title="Bird, T. D., Cederbaum, S. D., Valpey, R. W., Stahl, W. L. <strong>Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological and neurochemical study.</strong> Ann. Neurol. 3: 253-258, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/666266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">666266</a>] [<a href="https://doi.org/10.1002/ana.410030312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="666266">Bird et al. (1978)</a> (<a href="#21" class="mim-tip-reference" title="Motulsky, A. G. <strong>Personal Communication.</strong> Seattle, Washington 4/21/1982."None>Motulsky, 1982</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7081216+666266+4255726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Yamamoto, T., Hirose, G., Shimazaki, K., Takado, S., Kosoegawa, H., Sacki, M. <strong>Movement disorder of familial neuroacanthocytosis syndrome.</strong> Arch. Neurol. 39: 298-301, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7073550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7073550</a>] [<a href="https://doi.org/10.1001/archneur.1982.00510170040011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7073550">Yamamoto et al. (1982)</a> reported 2 sibs with neuroacanthocytosis with normal serum lipoprotein levels. Features included orolingual tic-like movements associated with vocalization, biting of the lip and tongue, dysphagia, subtle parkinsonism, and chorea. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7073550" 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="#13" class="mim-tip-reference" title="Gross, K. B., Skrivanek, J. A., Carlson, K. C., Kaufman, D. M. <strong>Familial amyotrophic chorea with acanthocytosis: new clinical and laboratory investigations.</strong> Arch. Neurol. 42: 753-756, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4026606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4026606</a>] [<a href="https://doi.org/10.1001/archneur.1985.04210090017005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4026606">Gross et al. (1985)</a> reported a 46-year-old man of Hispanic Puerto Rican ancestry who had familial amyotrophic chorea with acanthocytosis. At age 36 years, he developed progressive orofacial dyskinesia, dysarthria, dysphagia, and chorea of the trunk and limbs. Generalized tonic-clonic seizures appeared at age 40. Examination at age 46 showed the abnormal movements, as well as atrophy and weakness of the limb muscles and areflexia. Laboratory studies showed acanthocytosis on peripheral blood smear and increased serum creatine kinase. Family history revealed a brother who was less severely affected. The index patient also had increased free sialic acid, which the authors attributed to tissue destruction; the brother did not have this finding. <a href="#13" class="mim-tip-reference" title="Gross, K. B., Skrivanek, J. A., Carlson, K. C., Kaufman, D. M. <strong>Familial amyotrophic chorea with acanthocytosis: new clinical and laboratory investigations.</strong> Arch. Neurol. 42: 753-756, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4026606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4026606</a>] [<a href="https://doi.org/10.1001/archneur.1985.04210090017005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4026606">Gross et al. (1985)</a> noted the phenotypic similarity to the family reported by <a href="#11" class="mim-tip-reference" title="Estes, J. W., Morley, T. J., Levine, I. M., Emerson, C. P. <strong>A new hereditary acanthocytosis syndrome.</strong> Am. J. Med. 42: 868-881, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6027162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6027162</a>] [<a href="https://doi.org/10.1016/0002-9343(67)90068-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6027162">Estes et al. (1967)</a>. Absence of the McLeod blood group (XK; <a href="/entry/314850">314850</a>) phenotype (<a href="/entry/300842">300842</a>) was noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4026606+6027162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Hardie, R. J., Pullon, H. W. H., Harding, A. E., Owen, J. S., Pires, M., Daniels, G. L., Imai, Y., Misra, V. P., King, R. H. M., Jacobs, J. M., Tippett, P., Duchen, L. W., Thomas, P. K., Marsden, C. D. <strong>Neuroacanthocytosis: a clinical haematological and pathological study of 19 cases.</strong> Brain 114: 13-49, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1998879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1998879</a>]" pmid="1998879">Hardie et al. (1991)</a> reviewed neuroacanthocytosis on the basis of 19 cases, 12 familial and 7 nonfamilial. The mean age at onset was 32 years (range, 8-62) and the clinical course was usually progressive with cognitive impairment, psychiatric features, and organic personality changes in over half the cases. More than one-third of the cases had seizures. Orofaciolingual involuntary movements and pseudobulbar disturbance commonly caused dysphagia and dysarthria. Chorea was seen in almost all cases, and dystonia, tics, and akinetic-rigid features also occurred. CT imaging showed cerebral atrophy, but caudate atrophy was seen less commonly. Postmortem examination in 1 case revealed extensive neuronal loss and gliosis affecting the striatum, pallidum, and substantia nigra. <a href="#16" class="mim-tip-reference" title="Kartsounis, L. D., Hardie, R. J. <strong>The pattern of cognitive impairments in neuroacanthocytosis: a frontosubcortical dementia.</strong> Arch. Neurol. 53: 77-80, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8599563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8599563</a>] [<a href="https://doi.org/10.1001/archneur.1996.00550010095022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8599563">Kartsounis and Hardie (1996)</a> reviewed the clinical features of 19 reported cases of neuroacanthocytosis and found that the most consistent neurologic findings were impairment of frontal lobe function and psychiatric morbidity, in a pattern suggesting subcortical dementia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1998879+8599563" 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>See <a href="#17" class="mim-tip-reference" title="Kay, M. M. B. <strong>Band 3 in aging and neurological disease.</strong> Ann. N.Y. Acad. Sci. 621: 179-204, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1859086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1859086</a>] [<a href="https://doi.org/10.1111/j.1749-6632.1991.tb16979.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1859086">Kay (1991)</a> for a discussion of band 3 protein (<a href="/entry/109270">109270</a>) abnormalities in autosomal recessive choreoacanthocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1859086" 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 3 patients with neuroacanthocytosis, <a href="#25" class="mim-tip-reference" title="Rinne, J. O., Daniel, S. E., Scaravilli, F., Harding, A. E., Marsden, C. D. <strong>Nigral degeneration in neuroacanthocytosis.</strong> Neurology 44: 1629-1632, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936287</a>] [<a href="https://doi.org/10.1212/wnl.44.9.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7936287">Rinne et al. (1994)</a> demonstrated reduced neuronal density in the substantia nigra. As in Parkinson disease, the ventral lateral region was most severely affected, but with a slightly more diffuse distribution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7936287" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Sorrentino, G., De Renzo, A., Miniello, S., Nori, O., Bonavita, V. <strong>Late appearance of acanthocytes during the course of chorea-acanthocytosis.</strong> J. Neurol. Sci. 163: 175-178, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10371080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10371080</a>] [<a href="https://doi.org/10.1016/s0022-510x(99)00005-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10371080">Sorrentino et al. (1999)</a> described late appearance of acanthocytes in the course of chorea-acanthocytosis. The patient was a 37-year-old man whose parents were second cousins. Onset was reported to be at the age of 20 years with personality changes, sexual disinhibition, aggressiveness, and sporadic orofaciolingual dyskinesias. Persistent choreic movements of the head, shoulders, trunk, and limbs appeared later. At 28 years, he developed sporadic, generalized tonic-clonic seizures which disappeared after the age of 33 years. At that time, neurologic examination showed self mutilation of tongue and lip, dysarthria, mild diffuse muscle atrophy, and lack of deep tendon reflexes. Blood smears failed to show acanthocytes. Three years later when he was restudied for progression of neurologic manifestations, a fresh Wright stain revealed 51% acanthocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10371080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Requena Caballero, I., Arias Gomez, M., Lema Devesa, C., Sanchez Herrero, J., Barros Angueira, F., Coton Vilas, J. C. <strong>Corea-acantocitosis autosomica recesiva ligada a 9q21.</strong> Neurologia 15: 132-135, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10846875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10846875</a>]" pmid="10846875">Requena Caballero et al. (2000)</a> described a 34-year-old male, son of consanguineous parents, who had a progressive neurologic illness characterized by seizures, tics, choreic movements, and mood changes. Acanthocytosis was present in the blood, and serum beta-lipoprotein was normal. No KX (<a href="/entry/314850">314850</a>) changes of McLeod syndrome were found. Serial neuroimaging studies demonstrated progressive caudate atrophy. Elevated creatine kinase and muscle biopsy showed a nonspecific myopathy. Genetic study demonstrated linkage of the disorder to the 9q21 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10846875" 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="#20" class="mim-tip-reference" title="Lossos, A., Dobson-Stone, C., Monaco, A. P., Soffer, D., Rahamim, E., Newman, J. P., Mohiddin, S., Fananapazir, L., Lerer, I., Linetsky, E., Reches, A., Argov, Z., Abramsky, O., Gadoth, N., Sadeh, M., Gomori, J. M., Boher, M., Meiner, V. <strong>Early clinical heterogeneity in choreoacanthocytosis.</strong> Arch. Neurol. 62: 611-614, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824261/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824261</a>] [<a href="https://doi.org/10.1001/archneur.62.4.611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15824261">Lossos et al. (2005)</a> reported 3 unrelated Jewish patients with choreoacanthocytosis confirmed by genetic analysis (<a href="/entry/605978#0006">605978.0006</a>; <a href="/entry/605978#0007">605978.0007</a>). One of the patients had trichotillomania beginning in adolescence, 2 decades before diagnosis of CHAC. She also experienced postpartum exacerbation of CHAC. Another patient showed increased serum creatine kinase and hepatosplenomegaly approximately 10 years before other symptoms of CHAC developed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15824261" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Gradstein, L., Danek, A., Grafman, J., FitzGibbon, E. J. <strong>Eye movements in chorea-acanthocytosis.</strong> Invest. Ophthal. Vis. Sci. 46: 1979-1987, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15914612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15914612</a>] [<a href="https://doi.org/10.1167/iovs.04-0539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15914612">Gradstein et al. (2005)</a> described the eye movement abnormalities in 3 patients with CHAC. All had degeneration of the basal ganglia on MRI typical of CHAC. Their eye movement findings suggested brainstem involvement as an additional site of neurodegeneration outside the basal ganglia in CHAC. All 3 patients were later reported by <a href="#9" class="mim-tip-reference" title="Dobson-Stone, C., Danek, A., Rampoldi, L., Hardie, R. J., Chalmers, R. M., Wood, N. W., Bohlega, S., Dotti, M. T., Federico, A., Shizuka, M., Tanaka, M., Watanabe, M., and 32 others. <strong>Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.</strong> Europ. J. Hum. Genet. 10: 773-781, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12404112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12404112</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12404112">Dobson-Stone et al. (2002)</a> to have mutations in the VPS13A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12404112+15914612" 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="#27" class="mim-tip-reference" title="Ruiz-Sandoval, J. L., Garcia-Navarro, V., Chiquete, E., Dobson-Stone, C., Monaco, A. P., Alvarez-Palazuelos, L. E., Padilla-Martinez, J. J., Barrera-Chairez, E., Rodriguez-Figueroa, E. I., Perez-Garcia, G. <strong>Choreoacanthocytosis in a Mexican family.</strong> Arch. Neurol. 64: 1661-1664, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17998451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17998451</a>] [<a href="https://doi.org/10.1001/archneur.64.11.1661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17998451">Ruiz-Sandoval et al. (2007)</a> reported 2 Mexican mestizo sisters, born of consanguineous parents, with choreoacanthocytosis associated with a homozygous VPS13A mutation (<a href="/entry/605978#0009">605978.0009</a>). The proband had onset at age 32 years and showed severe progression of the disorder; at age 42, she was emaciated, anarthric, and reactive only to simple commands. In contrast, her sister had onset at age 45 years and primarily showed motor and verbal tics, paranoid behavior, and depression. <a href="#27" class="mim-tip-reference" title="Ruiz-Sandoval, J. L., Garcia-Navarro, V., Chiquete, E., Dobson-Stone, C., Monaco, A. P., Alvarez-Palazuelos, L. E., Padilla-Martinez, J. J., Barrera-Chairez, E., Rodriguez-Figueroa, E. I., Perez-Garcia, G. <strong>Choreoacanthocytosis in a Mexican family.</strong> Arch. Neurol. 64: 1661-1664, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17998451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17998451</a>] [<a href="https://doi.org/10.1001/archneur.64.11.1661" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17998451">Ruiz-Sandoval et al. (2007)</a> noted the clinical heterogeneity of the disorder in this family despite the patients having the same mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17998451" 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="#31" class="mim-tip-reference" title="Spitz, M. C., Jankovic, J., Killian, J. M. <strong>Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome.</strong> Neurology 35: 366-370, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3974894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3974894</a>] [<a href="https://doi.org/10.1212/wnl.35.3.366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3974894">Spitz et al. (1985)</a> reported 2 brothers from a consanguineous family with motor and vocal tics, parkinsonism, distal muscular atrophy, and acanthocytosis. The neurologic features became most apparent in their thirties. <a href="#34" class="mim-tip-reference" title="Villegas, A., Moscat, J., Vazquez, A., Calero, F., Alvarez-Sala, J. L., Artola, S., Espinos, D. <strong>A new family with hereditary choreo-acanthocytosis.</strong> Acta Haemat. 77: 215-219, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3115032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3115032</a>] [<a href="https://doi.org/10.1159/000205998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3115032">Villegas et al. (1987)</a> reported 2 affected sibs whose parents were normal. The patients did not have anemia or signs of hemolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3974894+3115032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Vance, J. M., Pericak-Vance, M. A., Bowman, M. H., Payne, C. S., Fredane, L., Siddique, T., Roses, A. D., Massey, E. W. <strong>Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.</strong> Am. J. Med. Genet. 28: 403-410, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3322006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3322006</a>] [<a href="https://doi.org/10.1002/ajmg.1320280219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3322006">Vance et al. (1987)</a> reported 4 affected patients from 3 families, and concluded that the inheritance was most likely autosomal recessive. Two of the 3 propositi were initially diagnosed as having Huntington disease. MRI showed atrophy of the caudate and putamen. Obligate heterozygotes did not show acanthocytosis. The authors noted that the disorder may be more frequent in Japan than elsewhere (<a href="#18" class="mim-tip-reference" title="Kito, S., Itoga, E., Kiroshige, Y., Matsamoto, N., Miwa, S. <strong>A pedigree of amyotrophic chorea with acanthocytosis.</strong> Arch. Neurol. 37: 514-517, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7417043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7417043</a>] [<a href="https://doi.org/10.1001/archneur.1980.00500570062010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7417043">Kito et al., 1980</a>; <a href="#22" class="mim-tip-reference" title="Nagashima, T., Iwashita, H., Kuroiwa, Y., Ohnishi, S. <strong>Chorea-acanthocytosis: a report of a family.</strong> Clin. Neurol. 19: 609-615, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/160297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">160297</a>]" pmid="160297">Nagashima et al., 1979</a>; <a href="#38" class="mim-tip-reference" title="Yamamoto, T., Hirose, G., Shimazaki, K., Takado, S., Kosoegawa, H., Sacki, M. <strong>Movement disorder of familial neuroacanthocytosis syndrome.</strong> Arch. Neurol. 39: 298-301, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7073550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7073550</a>] [<a href="https://doi.org/10.1001/archneur.1982.00510170040011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7073550">Yamamoto et al., 1982</a>). <a href="#33" class="mim-tip-reference" title="Vance, J. M., Pericak-Vance, M. A., Bowman, M. H., Payne, C. S., Fredane, L., Siddique, T., Roses, A. D., Massey, E. W. <strong>Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.</strong> Am. J. Med. Genet. 28: 403-410, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3322006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3322006</a>] [<a href="https://doi.org/10.1002/ajmg.1320280219" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3322006">Vance et al. (1987)</a> reviewed the literature and concluded that of 9 families in which there were 2 or more affected members, 2 were probably autosomal dominant and 7 were autosomal recessive. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7417043+3322006+7073550+160297" 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="#35" class="mim-tip-reference" title="Walker, R. H., Morgello, S., Davidoff-Feldman, B., Melnick, A., Walsh, M. J., Shashidharan, P., Brin, M. F. <strong>Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.</strong> Neurology 58: 1031-1037, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940688</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940688">Walker et al. (2002)</a> reported a family in which 3 members were affected with what the authors thought was autosomal dominant choreoacanthocytosis. The 56-year-old proband had initially been diagnosed with Huntington disease (<a href="/entry/143100">143100</a>). All 3 patients had 30 to 35% acanthocytosis on peripheral blood smear. However, in affected members of this family, <a href="#37" class="mim-tip-reference" title="Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L. <strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong> Neurology 61: 1002-1004, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557581</a>] [<a href="https://doi.org/10.1212/01.wnl.0000085866.68470.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557581">Walker et al. (2003)</a> identified trinucleotide repeat expansions in the junctophilin-3 gene (<a href="/entry/605268#0001">605268.0001</a>), confirming a diagnosis of Huntington disease-like-2 (HDL2; <a href="/entry/606438">606438</a>). <a href="#37" class="mim-tip-reference" title="Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L. <strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong> Neurology 61: 1002-1004, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557581</a>] [<a href="https://doi.org/10.1212/01.wnl.0000085866.68470.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557581">Walker et al. (2003)</a> suggested that HDL2 should be considered in the differential diagnosis of choreoacanthocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11940688+14557581" 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="#26" class="mim-tip-reference" title="Rubio, J. P., Danek, A., Stone, C., Chalmers, R., Wood, N., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Manfredi, M., Vance, J., Pericak-Vance, M., Brown, R., Rudolf, G., Picard, F., Alonso, E., Brin, M., Nemeth, A. H., Farrall, M., Monaco, A. P. <strong>Chorea-acanthocytosis: genetic linkage to chromosome 9q21.</strong> Am. J. Hum. Genet. 61: 899-908, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382101</a>] [<a href="https://doi.org/10.1086/514876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382101">Rubio et al. (1997)</a> performed linkage studies of 11 families segregating for CHAC that were of diverse geographic origin. They found linkage in all families to a 6-cM region of 9q21 that is flanked by the recombinant markers GATA89a11 and D9S1843. A maximum 2-point lod score of 7.1 at theta = 0.0 was achieved for D9S1867. The results of these studies were confirmed by homozygosity-by-descent analysis in offspring from consanguineous marriages. Together, these data provided strong evidence for the involvement of a single locus for CHAC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the 11 CHAC families reported by <a href="#26" class="mim-tip-reference" title="Rubio, J. P., Danek, A., Stone, C., Chalmers, R., Wood, N., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Manfredi, M., Vance, J., Pericak-Vance, M., Brown, R., Rudolf, G., Picard, F., Alonso, E., Brin, M., Nemeth, A. H., Farrall, M., Monaco, A. P. <strong>Chorea-acanthocytosis: genetic linkage to chromosome 9q21.</strong> Am. J. Hum. Genet. 61: 899-908, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382101</a>] [<a href="https://doi.org/10.1086/514876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382101">Rubio et al. (1997)</a>, <a href="#23" class="mim-tip-reference" title="Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Brown, R., Vance, J., Pericak-Vance, M., Rudolf, G., Carre, S., Alonso, E., Manfredi, M., Nemeth, A. H., Monaco, A. P. <strong>A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</strong> Nature Genet. 28: 119-120, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381253</a>] [<a href="https://doi.org/10.1038/88821" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381253">Rampoldi et al. (2001)</a> identified 16 different mutations in the gene encoding chorein (see, e.g., <a href="/entry/605978#0001">605978.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9382101+11381253" 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 4 affected patients from 3 Japanese kindreds with CHAC, <a href="#32" class="mim-tip-reference" title="Ueno, S., Maruki, Y., Nakamura, M., Tomemori, Y., Kamae, K., Tanabe, H., Yamashita, Y., Matsuda, S., Kaneko, S., Sano, A. <strong>The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.</strong> Nature Genet. 28: 121-122, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381254</a>] [<a href="https://doi.org/10.1038/88825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381254">Ueno et al. (2001)</a> identified homozygosity for a deletion in the VPS13A gene (<a href="/entry/605978#0003">605978.0003</a>). The unaffected parents were heterozygous for the deletion. Haplotype analysis indicated a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 43 patients with choreoacanthocytosis, <a href="#9" class="mim-tip-reference" title="Dobson-Stone, C., Danek, A., Rampoldi, L., Hardie, R. J., Chalmers, R. M., Wood, N. W., Bohlega, S., Dotti, M. T., Federico, A., Shizuka, M., Tanaka, M., Watanabe, M., and 32 others. <strong>Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.</strong> Europ. J. Hum. Genet. 10: 773-781, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12404112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12404112</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12404112">Dobson-Stone et al. (2002)</a> identified 57 different mutations distributed throughout the CHAC gene (see, e.g., <a href="/entry/605978#0004">605978.0004</a>). In 7 patients, only 1 heterozygous mutation was found; in 4 patients, no disease mutations were found. The authors noted that small gene deletions or rearrangements may not have been detected in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12404112" 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 2 affected sibs from a Japanese family with choreoacanthocytosis with apparent autosomal dominant inheritance, <a href="#28" class="mim-tip-reference" title="Saiki, S., Sakai, K., Kitagawa, Y., Saiki, M., Kataoka, S., Hirose, G. <strong>Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.</strong> Neurology 61: 1614-1616, 2003. Note: Erratum: Neurology 77: 701 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14663054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14663054</a>] [<a href="https://doi.org/10.1212/01.wnl.0000096172.26601.02" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14663054">Saiki et al. (2003)</a> identified heterozygosity for mutation in the CHAC gene (<a href="/entry/605978#0005">605978.0005</a>). In an erratum, the authors stated that an error in sequencing had occurred and the inheritance pattern should have been reported as autosomal recessive (pseudodominant). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14663054" 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="#10" class="mim-tip-reference" title="Dobson-Stone, C., Velayos-Baeza, A., Jansen, A., Andermann, F., Dubeau, F., Robert, F., Summers, A., Lang, A. E., Chouinard, S., Danek, A., Andermann, E., Monaco, A. P. <strong>Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.</strong> Neurogenetics 6: 151-158, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15918062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15918062</a>] [<a href="https://doi.org/10.1007/s10048-005-0220-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15918062">Dobson-Stone et al. (2005)</a> identified a homozygous 37-kb deletion in the VPS13A gene (<a href="/entry/605978#0008">605978.0008</a>) in affected members of 3 French Canadian families with choreoacanthocytosis. Haplotype analysis indicated a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15918062" 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="#29" class="mim-tip-reference" title="Sakai, T., Iwashita, H., Kakugawa, M. <strong>Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome). (Letter)</strong> Neurology 35: 1679, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4058764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4058764</a>] [<a href="https://doi.org/10.1212/wnl.35.11.1679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4058764">Sakai et al. (1985)</a> suggested the term 'Levine-Critchley syndrome' as the best designation for this disorder. They considered the term choreoacanthocytosis inappropriate because tics, dystonia, or parkinsonism may dominate the clinical picture (<a href="#31" class="mim-tip-reference" title="Spitz, M. C., Jankovic, J., Killian, J. M. <strong>Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome.</strong> Neurology 35: 366-370, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3974894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3974894</a>] [<a href="https://doi.org/10.1212/wnl.35.3.366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3974894">Spitz et al., 1985</a>). 'Neuroacanthocytosis' was also considered inappropriate because it might include the Bassen-Kornzweig syndrome (<a href="/entry/200100">200100</a>). <a href="#15" class="mim-tip-reference" title="Jankovic, J., Killian, J. M., Spitz, M. C. <strong>Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome). Reply from the authors. (Letter)</strong> Neurology 35: 1679, 1985."None>Jankovic et al. (1985)</a> noted that there are 2 other neuroacanthocytoses: one associated with hypobetalipoproteinemia (<a href="/entry/615558">615558</a>) and another that is part of the McLeod syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4058764+3974894" 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="#11" class="mim-tip-reference" title="Estes, J. W., Morley, T. J., Levine, I. M., Emerson, C. P. <strong>A new hereditary acanthocytosis syndrome.</strong> Am. J. Med. 42: 868-881, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6027162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6027162</a>] [<a href="https://doi.org/10.1016/0002-9343(67)90068-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6027162">Estes et al. (1967)</a> and <a href="#19" class="mim-tip-reference" title="Levine, I. M., Estes, J. W., Looney, J. M. <strong>Hereditary neurological disease with acanthocytosis: a new syndrome.</strong> Arch. Neurol. 19: 403-409, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5677189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5677189</a>] [<a href="https://doi.org/10.1001/archneur.1968.00480040069007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5677189">Levine et al. (1968)</a> reported a family in which 19 persons in 4 generations had some degree of neurologic abnormalities, 15 with, and 4 without, acanthocytosis. The pattern of inheritance appeared to be autosomal dominant. However, <a href="#36" class="mim-tip-reference" title="Walker, R. H., Peikert, K., Jung, H. H., Hermann, A., Danek, A. <strong>Neuroacanthocytosis syndromes: the clinical perspective.</strong> Contact (Thousand Oaks) 6: 25152564231210339, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38090146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38090146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=38090146[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/10.1177/25152564231210339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="38090146">Walker et al. (2023)</a> stated that descendants of the family reported by <a href="#19" class="mim-tip-reference" title="Levine, I. M., Estes, J. W., Looney, J. M. <strong>Hereditary neurological disease with acanthocytosis: a new syndrome.</strong> Arch. Neurol. 19: 403-409, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5677189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5677189</a>] [<a href="https://doi.org/10.1001/archneur.1968.00480040069007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5677189">Levine et al. (1968)</a> had been found to carry mutations in the XK gene, indicating that they had McLeod syndrome; see <a href="/entry/300842">300842</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5677189+38090146+6027162" 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="#Betts1970" class="mim-tip-reference" title="Betts, J. J., Nicholson, J. T., Critchley, E. M. R. <strong>Acanthocytosis with normolipoproteinaemia: biophysical aspects.</strong> Postgrad. Med. J. 46: 702-707, 1970.">Betts et al. (1970)</a>
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Aminoff, M. J.
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<strong>Acanthocytosis and neurological disease.</strong>
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Brain 95: 749-760, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4647152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4647152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4647152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/95.4.749" target="_blank">Full Text</a>]
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Betts, J. J., Nicholson, J. T., Critchley, E. M. R.
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<strong>Acanthocytosis with normolipoproteinaemia: biophysical aspects.</strong>
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Postgrad. Med. J. 46: 702-707, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5492703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5492703</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5492703" 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/pgmj.46.542.702" target="_blank">Full Text</a>]
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Bird, T. D., Cederbaum, S. D., Valpey, R. W., Stahl, W. L.
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<strong>Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological and neurochemical study.</strong>
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Ann. Neurol. 3: 253-258, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/666266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">666266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=666266" 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.410030312" target="_blank">Full Text</a>]
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Cederbaum, S. J., Heywood, D., Aigner, R., Motulsky, A. G.
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<strong>Progressive chorea, dementia and acanthocytosis: a genocopy of Huntington's chorea. (Abstract)</strong>
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Clin. Res. 19: 177 only, 1971.
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Copeland, B. R., Todd, S. A., Furlong, C. E.
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<strong>High resolution two-dimensional gel electrophoresis of human erythrocyte membrane proteins.</strong>
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Am. J. Hum. Genet. 34: 15-31, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7081216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7081216</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7081216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Critchley, E. M. R., Betts, J. J., Nicholson, J. T., Weatherall, D. J.
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<strong>Acanthocytosis, normolipoproteinaemia and multiple tics.</strong>
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Postgrad. Med. J. 46: 698-701, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5492702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5492702</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5492702" 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/pgmj.46.542.698" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1968.00470320036004" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200866" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10048-005-0220-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1167/iovs.04-0539" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1985.04210090017005" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7936287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7936287</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7936287" 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.44.9.1629" target="_blank">Full Text</a>]
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<a id="Rubio1997" class="mim-anchor"></a>
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Rubio, J. P., Danek, A., Stone, C., Chalmers, R., Wood, N., Verellen, C., Ferrer, X., Malandrini, A., Fabrizi, G. M., Manfredi, M., Vance, J., Pericak-Vance, M., Brown, R., Rudolf, G., Picard, F., Alonso, E., Brin, M., Nemeth, A. H., Farrall, M., Monaco, A. P.
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[<a href="https://doi.org/10.1086/514876" target="_blank">Full Text</a>]
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<a id="Ruiz-Sandoval2007" class="mim-anchor"></a>
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Ruiz-Sandoval, J. L., Garcia-Navarro, V., Chiquete, E., Dobson-Stone, C., Monaco, A. P., Alvarez-Palazuelos, L. E., Padilla-Martinez, J. J., Barrera-Chairez, E., Rodriguez-Figueroa, E. I., Perez-Garcia, G.
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[<a href="https://doi.org/10.1001/archneur.64.11.1661" target="_blank">Full Text</a>]
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Saiki, S., Sakai, K., Kitagawa, Y., Saiki, M., Kataoka, S., Hirose, G.
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<strong>Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14663054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14663054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14663054" 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/10.1212/01.wnl.0000096172.26601.02" target="_blank">Full Text</a>]
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<a id="Sakai1985" class="mim-anchor"></a>
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<div class="">
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Sakai, T., Iwashita, H., Kakugawa, M.
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<strong>Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome). (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4058764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4058764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4058764" 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.35.11.1679" target="_blank">Full Text</a>]
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Sorrentino, G., De Renzo, A., Miniello, S., Nori, O., Bonavita, V.
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<strong>Late appearance of acanthocytes during the course of chorea-acanthocytosis.</strong>
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J. Neurol. Sci. 163: 175-178, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10371080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10371080</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10371080" 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/s0022-510x(99)00005-2" target="_blank">Full Text</a>]
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Spitz, M. C., Jankovic, J., Killian, J. M.
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<strong>Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome.</strong>
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Neurology 35: 366-370, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3974894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3974894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3974894" 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.35.3.366" target="_blank">Full Text</a>]
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Ueno, S., Maruki, Y., Nakamura, M., Tomemori, Y., Kamae, K., Tanabe, H., Yamashita, Y., Matsuda, S., Kaneko, S., Sano, A.
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<strong>The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.</strong>
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Nature Genet. 28: 121-122, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/88825" target="_blank">Full Text</a>]
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Vance, J. M., Pericak-Vance, M. A., Bowman, M. H., Payne, C. S., Fredane, L., Siddique, T., Roses, A. D., Massey, E. W.
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<strong>Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.</strong>
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Am. J. Med. Genet. 28: 403-410, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3322006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3322006</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3322006" 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/ajmg.1320280219" target="_blank">Full Text</a>]
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Villegas, A., Moscat, J., Vazquez, A., Calero, F., Alvarez-Sala, J. L., Artola, S., Espinos, D.
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<strong>A new family with hereditary choreo-acanthocytosis.</strong>
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Acta Haemat. 77: 215-219, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3115032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3115032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3115032" 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/10.1159/000205998" target="_blank">Full Text</a>]
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Walker, R. H., Morgello, S., Davidoff-Feldman, B., Melnick, A., Walsh, M. J., Shashidharan, P., Brin, M. F.
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<strong>Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.</strong>
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Neurology 58: 1031-1037, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940688" 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.58.7.1031" target="_blank">Full Text</a>]
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Walker, R. H., Peikert, K., Jung, H. H., Hermann, A., Danek, A.
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<strong>Neuroacanthocytosis syndromes: the clinical perspective.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38090146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38090146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=38090146[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=38090146" 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/10.1177/25152564231210339" target="_blank">Full Text</a>]
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Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L.
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<strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong>
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Neurology 61: 1002-1004, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14557581" 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/10.1212/01.wnl.0000085866.68470.6d" target="_blank">Full Text</a>]
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<a id="Yamamoto1982" class="mim-anchor"></a>
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Yamamoto, T., Hirose, G., Shimazaki, K., Takado, S., Kosoegawa, H., Sacki, M.
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<strong>Movement disorder of familial neuroacanthocytosis syndrome.</strong>
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Arch. Neurol. 39: 298-301, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7073550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7073550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7073550" 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/10.1001/archneur.1982.00510170040011" target="_blank">Full Text</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 : 11/21/2011
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/10/2008<br>Jane Kelly - updated : 2/15/2006<br>Cassandra L. Kniffin - updated : 11/9/2005<br>Cassandra L. Kniffin - updated : 8/18/2005<br>Cassandra L. Kniffin - updated : 3/2/2004<br>Cassandra L. Kniffin - reorganized : 2/25/2004<br>Victor A. McKusick - updated : 9/3/2002<br>Victor A. McKusick - updated : 4/3/2002<br>Victor A. McKusick - updated : 5/24/2001<br>Victor A. McKusick - updated : 12/8/1999<br>Victor A. McKusick - updated : 10/17/1997<br>Orest Hurko - updated : 8/15/1995
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Creation Date:
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Victor A. McKusick : 6/2/1986
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carol : 03/14/2024<br>carol : 03/13/2024<br>ckniffin : 03/06/2024<br>ckniffin : 03/05/2024<br>carol : 09/22/2022<br>carol : 09/21/2022<br>carol : 09/07/2016<br>joanna : 03/31/2015<br>carol : 12/9/2013<br>carol : 1/6/2012<br>carol : 11/23/2011<br>carol : 11/23/2011<br>ckniffin : 11/21/2011<br>alopez : 5/2/2011<br>joanna : 5/7/2009<br>wwang : 4/16/2008<br>ckniffin : 4/10/2008<br>alopez : 2/15/2006<br>wwang : 11/22/2005<br>ckniffin : 11/9/2005<br>wwang : 8/31/2005<br>wwang : 8/19/2005<br>ckniffin : 8/18/2005<br>carol : 3/2/2004<br>ckniffin : 3/2/2004<br>carol : 2/25/2004<br>ckniffin : 2/25/2004<br>ckniffin : 2/25/2004<br>ckniffin : 1/28/2004<br>carol : 9/18/2002<br>tkritzer : 9/17/2002<br>tkritzer : 9/17/2002<br>terry : 9/3/2002<br>terry : 6/3/2002<br>terry : 4/3/2002<br>alopez : 5/30/2001<br>alopez : 5/29/2001<br>terry : 5/24/2001<br>carol : 12/8/1999<br>terry : 12/8/1999<br>jenny : 10/24/1997<br>jenny : 10/21/1997<br>terry : 10/17/1997<br>alopez : 6/10/1997<br>mimadm : 11/12/1995<br>mark : 8/15/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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<h3>
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<span class="mim-font">
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<strong>#</strong> 200150
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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CHOREOACANTHOCYTOSIS; CHAC
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</span>
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</h3>
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<br />
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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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CHOREA-ACANTHOCYTOSIS<br />
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ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER<br />
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LEVINE-CRITCHLEY SYNDROME, FORMERLY<br />
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NEUROACANTHOCYTOSIS, FORMERLY
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 66881004;
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<strong>ORPHA:</strong> 2388;
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<strong>DO:</strong> 0050766;
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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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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<span class="mim-font">
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9q21.2
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</td>
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<td>
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<span class="mim-font">
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Choreoacanthocytosis
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</td>
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<span class="mim-font">
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200150
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<td>
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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VPS13A
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<td>
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<span class="mim-font">
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605978
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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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 of evidence that choreoacanthocytosis (CHAC) is caused by homozygous or compound heterozygous mutation in the VPS13A gene (605978), which encodes chorein, on chromosome 9q21.</p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Choreoacanthocytosis (CHAC) is an autosomal recessive disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life (Rubio et al., 1997). </p><p>See also McLeod syndrome (300842) for a phenotypically similar disorder.</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>
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</h4>
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<span class="mim-text-font">
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<p>Critchley et al. (1967, 1968) described an adult form of acanthocytosis associated with neurologic abnormalities and apparently normal serum lipoproteins. The proband had onset in his mid-twenties of generalized weakness and involuntary movements, including grimacing, dystonia, and chorea. Orofacial movements were especially dramatic, and the patient had multiple bite lesions on his lips, tongue, and cheeks. The neurologic manifestations resembled those of the Gilles de la Tourette syndrome (137580) or Huntington disease (143100). Four of the proband's sibs had neurologic manifestations. A niece had acanthocytes and a neurologic disorder suggesting Friedreich ataxia (229300). </p><p>Critchley et al. (1970) reported a single case from England, a woman who showed self-mutilation of the tongue, lips, and cheeks. Another family was reported by Aminoff (1972). Wasting of girdle and proximal limb muscles, absent tendon reflexes, and disturbance of bladder function were other features. </p><p>Cederbaum et al. (1971) and Bird et al. (1978) observed a consanguineous family in which 3 adult sibs developed progressive chorea and dementia similar to Huntington disease (143100), but with acanthocytes in the peripheral blood. No malabsorption or abnormalities of serum beta-lipoprotein were found. The proband was a 41-year-old male, and an affected brother and sister had died at ages 32 and 39 years. Postmortem examination showed marked neuronal loss and gliosis of the caudate and putamen. Two children of the proband were healthy. The authors suggested that the same disorder may have been present in the family of Critchley et al. (1967), although the pattern of inheritance in that family appeared to be autosomal dominant. In a patient with acanthocytosis and degeneration of the basal ganglia, Copeland et al. (1982) found an abnormally high level of a protein in the 100,000 MW range on 2-D O'Farrell gel electrophoresis of red cell membranes. This patient was from the family reported by Bird et al. (1978) (Motulsky, 1982). </p><p>Yamamoto et al. (1982) reported 2 sibs with neuroacanthocytosis with normal serum lipoprotein levels. Features included orolingual tic-like movements associated with vocalization, biting of the lip and tongue, dysphagia, subtle parkinsonism, and chorea. </p><p>Gross et al. (1985) reported a 46-year-old man of Hispanic Puerto Rican ancestry who had familial amyotrophic chorea with acanthocytosis. At age 36 years, he developed progressive orofacial dyskinesia, dysarthria, dysphagia, and chorea of the trunk and limbs. Generalized tonic-clonic seizures appeared at age 40. Examination at age 46 showed the abnormal movements, as well as atrophy and weakness of the limb muscles and areflexia. Laboratory studies showed acanthocytosis on peripheral blood smear and increased serum creatine kinase. Family history revealed a brother who was less severely affected. The index patient also had increased free sialic acid, which the authors attributed to tissue destruction; the brother did not have this finding. Gross et al. (1985) noted the phenotypic similarity to the family reported by Estes et al. (1967). Absence of the McLeod blood group (XK; 314850) phenotype (300842) was noted. </p><p>Hardie et al. (1991) reviewed neuroacanthocytosis on the basis of 19 cases, 12 familial and 7 nonfamilial. The mean age at onset was 32 years (range, 8-62) and the clinical course was usually progressive with cognitive impairment, psychiatric features, and organic personality changes in over half the cases. More than one-third of the cases had seizures. Orofaciolingual involuntary movements and pseudobulbar disturbance commonly caused dysphagia and dysarthria. Chorea was seen in almost all cases, and dystonia, tics, and akinetic-rigid features also occurred. CT imaging showed cerebral atrophy, but caudate atrophy was seen less commonly. Postmortem examination in 1 case revealed extensive neuronal loss and gliosis affecting the striatum, pallidum, and substantia nigra. Kartsounis and Hardie (1996) reviewed the clinical features of 19 reported cases of neuroacanthocytosis and found that the most consistent neurologic findings were impairment of frontal lobe function and psychiatric morbidity, in a pattern suggesting subcortical dementia. </p><p>See Kay (1991) for a discussion of band 3 protein (109270) abnormalities in autosomal recessive choreoacanthocytosis. </p><p>In 3 patients with neuroacanthocytosis, Rinne et al. (1994) demonstrated reduced neuronal density in the substantia nigra. As in Parkinson disease, the ventral lateral region was most severely affected, but with a slightly more diffuse distribution. </p><p>Sorrentino et al. (1999) described late appearance of acanthocytes in the course of chorea-acanthocytosis. The patient was a 37-year-old man whose parents were second cousins. Onset was reported to be at the age of 20 years with personality changes, sexual disinhibition, aggressiveness, and sporadic orofaciolingual dyskinesias. Persistent choreic movements of the head, shoulders, trunk, and limbs appeared later. At 28 years, he developed sporadic, generalized tonic-clonic seizures which disappeared after the age of 33 years. At that time, neurologic examination showed self mutilation of tongue and lip, dysarthria, mild diffuse muscle atrophy, and lack of deep tendon reflexes. Blood smears failed to show acanthocytes. Three years later when he was restudied for progression of neurologic manifestations, a fresh Wright stain revealed 51% acanthocytes. </p><p>Requena Caballero et al. (2000) described a 34-year-old male, son of consanguineous parents, who had a progressive neurologic illness characterized by seizures, tics, choreic movements, and mood changes. Acanthocytosis was present in the blood, and serum beta-lipoprotein was normal. No KX (314850) changes of McLeod syndrome were found. Serial neuroimaging studies demonstrated progressive caudate atrophy. Elevated creatine kinase and muscle biopsy showed a nonspecific myopathy. Genetic study demonstrated linkage of the disorder to the 9q21 region. </p><p>Lossos et al. (2005) reported 3 unrelated Jewish patients with choreoacanthocytosis confirmed by genetic analysis (605978.0006; 605978.0007). One of the patients had trichotillomania beginning in adolescence, 2 decades before diagnosis of CHAC. She also experienced postpartum exacerbation of CHAC. Another patient showed increased serum creatine kinase and hepatosplenomegaly approximately 10 years before other symptoms of CHAC developed. </p><p>Gradstein et al. (2005) described the eye movement abnormalities in 3 patients with CHAC. All had degeneration of the basal ganglia on MRI typical of CHAC. Their eye movement findings suggested brainstem involvement as an additional site of neurodegeneration outside the basal ganglia in CHAC. All 3 patients were later reported by Dobson-Stone et al. (2002) to have mutations in the VPS13A gene. </p><p>Ruiz-Sandoval et al. (2007) reported 2 Mexican mestizo sisters, born of consanguineous parents, with choreoacanthocytosis associated with a homozygous VPS13A mutation (605978.0009). The proband had onset at age 32 years and showed severe progression of the disorder; at age 42, she was emaciated, anarthric, and reactive only to simple commands. In contrast, her sister had onset at age 45 years and primarily showed motor and verbal tics, paranoid behavior, and depression. Ruiz-Sandoval et al. (2007) noted the clinical heterogeneity of the disorder in this family despite the patients having the same mutation. </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>Spitz et al. (1985) reported 2 brothers from a consanguineous family with motor and vocal tics, parkinsonism, distal muscular atrophy, and acanthocytosis. The neurologic features became most apparent in their thirties. Villegas et al. (1987) reported 2 affected sibs whose parents were normal. The patients did not have anemia or signs of hemolysis. </p><p>Vance et al. (1987) reported 4 affected patients from 3 families, and concluded that the inheritance was most likely autosomal recessive. Two of the 3 propositi were initially diagnosed as having Huntington disease. MRI showed atrophy of the caudate and putamen. Obligate heterozygotes did not show acanthocytosis. The authors noted that the disorder may be more frequent in Japan than elsewhere (Kito et al., 1980; Nagashima et al., 1979; Yamamoto et al., 1982). Vance et al. (1987) reviewed the literature and concluded that of 9 families in which there were 2 or more affected members, 2 were probably autosomal dominant and 7 were autosomal recessive. </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>Diagnosis</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>Differential Diagnosis</em></strong></p><p>
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Walker et al. (2002) reported a family in which 3 members were affected with what the authors thought was autosomal dominant choreoacanthocytosis. The 56-year-old proband had initially been diagnosed with Huntington disease (143100). All 3 patients had 30 to 35% acanthocytosis on peripheral blood smear. However, in affected members of this family, Walker et al. (2003) identified trinucleotide repeat expansions in the junctophilin-3 gene (605268.0001), confirming a diagnosis of Huntington disease-like-2 (HDL2; 606438). Walker et al. (2003) suggested that HDL2 should be considered in the differential diagnosis of choreoacanthocytosis. </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>Rubio et al. (1997) performed linkage studies of 11 families segregating for CHAC that were of diverse geographic origin. They found linkage in all families to a 6-cM region of 9q21 that is flanked by the recombinant markers GATA89a11 and D9S1843. A maximum 2-point lod score of 7.1 at theta = 0.0 was achieved for D9S1867. The results of these studies were confirmed by homozygosity-by-descent analysis in offspring from consanguineous marriages. Together, these data provided strong evidence for the involvement of a single locus for CHAC. </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>In the 11 CHAC families reported by Rubio et al. (1997), Rampoldi et al. (2001) identified 16 different mutations in the gene encoding chorein (see, e.g., 605978.0001). </p><p>In 4 affected patients from 3 Japanese kindreds with CHAC, Ueno et al. (2001) identified homozygosity for a deletion in the VPS13A gene (605978.0003). The unaffected parents were heterozygous for the deletion. Haplotype analysis indicated a founder effect. </p><p>Among 43 patients with choreoacanthocytosis, Dobson-Stone et al. (2002) identified 57 different mutations distributed throughout the CHAC gene (see, e.g., 605978.0004). In 7 patients, only 1 heterozygous mutation was found; in 4 patients, no disease mutations were found. The authors noted that small gene deletions or rearrangements may not have been detected in these patients. </p><p>In 2 affected sibs from a Japanese family with choreoacanthocytosis with apparent autosomal dominant inheritance, Saiki et al. (2003) identified heterozygosity for mutation in the CHAC gene (605978.0005). In an erratum, the authors stated that an error in sequencing had occurred and the inheritance pattern should have been reported as autosomal recessive (pseudodominant). </p><p>Dobson-Stone et al. (2005) identified a homozygous 37-kb deletion in the VPS13A gene (605978.0008) in affected members of 3 French Canadian families with choreoacanthocytosis. Haplotype analysis indicated a founder effect. </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>Nomenclature</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>Sakai et al. (1985) suggested the term 'Levine-Critchley syndrome' as the best designation for this disorder. They considered the term choreoacanthocytosis inappropriate because tics, dystonia, or parkinsonism may dominate the clinical picture (Spitz et al., 1985). 'Neuroacanthocytosis' was also considered inappropriate because it might include the Bassen-Kornzweig syndrome (200100). Jankovic et al. (1985) noted that there are 2 other neuroacanthocytoses: one associated with hypobetalipoproteinemia (615558) and another that is part of the McLeod syndrome. </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>Estes et al. (1967) and Levine et al. (1968) reported a family in which 19 persons in 4 generations had some degree of neurologic abnormalities, 15 with, and 4 without, acanthocytosis. The pattern of inheritance appeared to be autosomal dominant. However, Walker et al. (2023) stated that descendants of the family reported by Levine et al. (1968) had been found to carry mutations in the XK gene, indicating that they had McLeod syndrome; see 300842. </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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Betts et al. (1970)
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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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Aminoff, M. J.
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<strong>Acanthocytosis and neurological disease.</strong>
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Brain 95: 749-760, 1972.
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[PubMed: 4647152]
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[Full Text: https://doi.org/10.1093/brain/95.4.749]
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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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Neurology 61: 1002-1004, 2003.
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[PubMed: 14557581]
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[Full Text: https://doi.org/10.1212/01.wnl.0000085866.68470.6d]
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Yamamoto, T., Hirose, G., Shimazaki, K., Takado, S., Kosoegawa, H., Sacki, M.
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<strong>Movement disorder of familial neuroacanthocytosis syndrome.</strong>
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Arch. Neurol. 39: 298-301, 1982.
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[PubMed: 7073550]
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[Full Text: https://doi.org/10.1001/archneur.1982.00510170040011]
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Cassandra L. Kniffin - updated : 11/21/2011<br>Cassandra L. Kniffin - updated : 4/10/2008<br>Jane Kelly - updated : 2/15/2006<br>Cassandra L. Kniffin - updated : 11/9/2005<br>Cassandra L. Kniffin - updated : 8/18/2005<br>Cassandra L. Kniffin - updated : 3/2/2004<br>Cassandra L. Kniffin - reorganized : 2/25/2004<br>Victor A. McKusick - updated : 9/3/2002<br>Victor A. McKusick - updated : 4/3/2002<br>Victor A. McKusick - updated : 5/24/2001<br>Victor A. McKusick - updated : 12/8/1999<br>Victor A. McKusick - updated : 10/17/1997<br>Orest Hurko - updated : 8/15/1995
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Victor A. McKusick : 6/2/1986
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