3576 lines
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Entry
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- #208920 - ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH
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- OMIM
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<span class="h4">#208920</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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<a href="/clinicalSynopsis/208920"><strong>Clinical Synopsis</strong></a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#nomenclature">Nomenclature</a>
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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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<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 style="display: table-cell;">External Links</div>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA HYPOALBUMINEMIA) OR (APTX)" class="mim-tip-hint" title="Clinical Trials" 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=1427&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/NBK1138/" 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/7641" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=208920[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=1168" 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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<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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</a>
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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:0050754" 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/208920" 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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<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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 715366004<br />
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<strong>ORPHA:</strong> 1168<br />
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<strong>DO:</strong> 0050754<br />
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">ICD+</a>
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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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208920
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</span>
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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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ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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ATAXIA-OCULOMOTOR APRAXIA SYNDROME; AOA<br />
|
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ATAXIA-OCULOMOTOR APRAXIA 1; AOA1<br />
|
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ATAXIA-TELANGIECTASIA-LIKE SYNDROME<br />
|
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CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA; EOCA-HA
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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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<a id="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED
|
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</span>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
|
</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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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/9/125?start=-3&limit=10&highlight=125">
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9p21.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
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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/208920"> 208920 </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">
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APTX
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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/606350"> 606350 </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/208920" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</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>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/208920" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/208920" 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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<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">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
|
- 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>
|
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<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Oculomotor apraxia (in 86% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193662007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193662007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405810005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405810005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543874</a>, <a href="https://bioportal.bioontology.org/search?q=C0271270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271270</a>, <a href="https://bioportal.bioontology.org/search?q=C3489733&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489733</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000657</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000657</a>]</span><br /> -
|
|
Hypometric saccades <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246768008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246768008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423082</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000571" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000571</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000571" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000571</a>]</span><br /> -
|
|
Gaze-evoked nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1220537002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1220537002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574666</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000640</a>]</span><br /> -
|
|
Progressive external ophthalmoplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/46252003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">46252003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H49.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H49.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.72</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162674&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162674</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000590" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000590</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000544" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000544</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000590" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000590</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<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 />
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</span>
|
|
</div>
|
|
</div>
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|
|
</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Distal muscular atrophy due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806169</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br /> -
|
|
Muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151786</a>, <a href="https://bioportal.bioontology.org/search?q=C0030552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br /> -
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Muscle coenzyme Q deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673882</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </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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<div>
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<span class="h5 mim-font">
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<em> Central 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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- Cerebellar ataxia, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859599&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859599</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
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Gait ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25136009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25136009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R26.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R26.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span><br /> -
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Limb ataxia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750937&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750937</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002070</a>]</span><br /> -
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Trunk ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/250067008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">250067008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427190</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002078</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002078</a>]</span><br /> -
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Mosy patients become wheelchair-bound after 10 years <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859600&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859600</a>]</span><br /> -
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Oculomotor apraxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193662007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193662007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405810005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405810005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543874</a>, <a href="https://bioportal.bioontology.org/search?q=C0271270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271270</a>, <a href="https://bioportal.bioontology.org/search?q=C3489733&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489733</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000657</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000657</a>]</span><br /> -
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|
Choreoathetosis (in 79%, more frequent at disease onset) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43105007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43105007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085583</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001266</a>]</span><br /> -
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|
Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</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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|
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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|
Mental deterioration (in a subset of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span><br /> -
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|
Dementia (in a subset of 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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Cerebellar atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</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">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
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|
- Axonal sensory and motor peripheral neuropathy, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859604&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859604</a>]</span><br /> -
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|
Distal sensory loss <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847584</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</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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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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Nerve biopsy shows axonal degeneration and axonal sprouting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859605</a>]</span><br /> -
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Depletion of large myelinated fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859606</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003387</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003387</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Hypoalbuminemia (in 83%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/119247004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">119247004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1153477009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1153477009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3665623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665623</a>, <a href="https://bioportal.bioontology.org/search?q=C0239981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003073</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003073</a>]</span><br /> -
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Hypercholesterolemia (in 75%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13644009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13644009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1522133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1522133</a>, <a href="https://bioportal.bioontology.org/search?q=C0020443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020443</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003124" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003124</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset is usually in childhood or adolescence (2 to 18 years)<br /> -
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Adult onset has been reported<br /> -
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Oculomotor apraxia is not always present<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the aprataxin gene (APTX, <a href="/entry/606350#0001">606350.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because early-onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH) is caused by homozygous or compound heterozygous mutation in the gene encoding aprataxin (APTX; <a href="/entry/606350">606350</a>) on chromosome 9p21. Adult-onset ataxia with oculomotor apraxia is also caused by mutation in the APTX gene.</p>
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<p>Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (<a href="#18" class="mim-tip-reference" title="Moreira, M. C., Barbot, C., Tachi, N., Kozuka, N., Mendonca, P., Barros, J., Coutinho, P., Sequerios, J., Koenig, M. <strong>Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.</strong> Am. J. Hum. Genet. 68: 501-508, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11170899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11170899</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11170899[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11170899">Moreira et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11170899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Ataxia-Oculomotor Apraxia</em></strong></p><p>
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See also AOA2 (<a href="/entry/606002">606002</a>), caused by mutation in the SETX gene (<a href="/entry/608465">608465</a>) on chromosome 9q34; AOA3 (<a href="/entry/615217">615217</a>), caused by mutation in the PIK3R5 gene (<a href="/entry/611317">611317</a>) on chromosome 17p; and AOA4 (<a href="/entry/616267">616267</a>), caused by mutation in the PNKP gene (<a href="/entry/605610">605610</a>) on chromosome 19q13.</p>
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<p><a href="#1" class="mim-tip-reference" title="Aicardi, J., Barbosa, C., Andermann, E., Andermann, F., Morcos, R., Ghanem, Z., Fukuyama, Y., Awaya, Y., Moe, P. <strong>Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.</strong> Ann. Neurol. 24: 497-502, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3239952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3239952</a>] [<a href="https://doi.org/10.1002/ana.410240404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3239952">Aicardi et al. (1988)</a> described an autosomal recessive syndrome that closely resembled ataxia-telangiectasia (AT; <a href="/entry/208900">208900</a>) but differed in important respects. They reported 14 patients in 10 families with a neurologic syndrome of oculomotor apraxia, ataxia, and choreoathetosis who had none of the extraneurologic features of AT. Although the neurologic signs were indistinguishable from those of AT, the onset tended to be later and none of the patients had a tendency to frequent infections; further, immunoglobulins, alpha-fetoprotein, T- and B-lymphocyte markers, and chromosomes 7 and 14 were normal in all patients tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3239952" 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="Barbot, C., Coutinho, P., Chorao, R., Ferriera, C., Barros, J., Fineza, I., Dias, K., Monteiro, J. P., Guimaraes, A., Mendonca, P., Moreira, M. C., Sequeiros, J. <strong>Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.</strong> Arch. Neurol. 58: 201-205, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11176957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11176957</a>] [<a href="https://doi.org/10.1001/archneur.58.2.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11176957">Barbot et al. (2001)</a> reported 22 Portuguese patients with autosomal recessive cerebellar ataxia, ocular apraxia, and peripheral neuropathy with a mean age of onset of 4.7 years. There was no associated mental retardation, telangiectasia, or immunodeficiency. <a href="#4" class="mim-tip-reference" title="Barbot, C., Coutinho, P., Chorao, R., Ferriera, C., Barros, J., Fineza, I., Dias, K., Monteiro, J. P., Guimaraes, A., Mendonca, P., Moreira, M. C., Sequeiros, J. <strong>Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.</strong> Arch. Neurol. 58: 201-205, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11176957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11176957</a>] [<a href="https://doi.org/10.1001/archneur.58.2.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11176957">Barbot et al. (2001)</a> concluded that ataxia with oculomotor apraxia may be more frequent than previously believed. <a href="#16" class="mim-tip-reference" title="Koeppen, A. H. <strong>Ocular apraxia in recessive ataxia. (Letter)</strong> Arch. Neurol. 59: 874 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12020276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12020276</a>] [<a href="https://doi.org/10.1001/archneur.59.5.874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12020276">Koeppen (2002)</a> suggested that the patients reported by <a href="#4" class="mim-tip-reference" title="Barbot, C., Coutinho, P., Chorao, R., Ferriera, C., Barros, J., Fineza, I., Dias, K., Monteiro, J. P., Guimaraes, A., Mendonca, P., Moreira, M. C., Sequeiros, J. <strong>Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.</strong> Arch. Neurol. 58: 201-205, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11176957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11176957</a>] [<a href="https://doi.org/10.1001/archneur.58.2.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11176957">Barbot et al. (2001)</a> may have exhibited supranuclear pseudoophthalmoplegia, which may be due to lesions in the nucleus pontis centralis caudalis of the paramedian pontine reticular formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11176957+12020276" 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="Shimazaki, H., Takiyama, Y., Sakoe, K., Ikeguchi, K., Niijima, K., Kaneko, J., Namekawa, M., Ogawa, T., Date, H., Tsuji, S., Nakano, I., Nishizawa, M. <strong>Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.</strong> Neurology 59: 590-595, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12196655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12196655</a>] [<a href="https://doi.org/10.1212/wnl.59.4.590" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12196655">Shimazaki et al. (2002)</a> reported 5 Japanese patients with autosomal recessive EAOH from 3 families and 1 sporadic case. Clinical features included age of onset from 3 to 12 years, cerebellar ataxia, peripheral neuropathy, oculomotor apraxia and external ophthalmoplegia, choreiform movements of the limbs, facial grimacing, mental deterioration, cerebellar atrophy, hypoalbuminemia, and hypercholesterolemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12196655" 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="#2" class="mim-tip-reference" title="Amouri, R., Moreira, M.-C., Zouari, M., El Euch, G., Barhoumi, C., Kefi, M., Belal, S., Koenig, M., Hentati, F. <strong>Aprataxin gene mutations in Tunisian families</strong> Neurology 63: 928-929, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15365154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15365154</a>] [<a href="https://doi.org/10.1212/01.wnl.0000137044.06573.46" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15365154">Amouri et al. (2004)</a> reported 3 unrelated Tunisian families with AOA, confirmed by mutation in the APTX gene (<a href="/entry/606350#0007">606350.0007</a>; <a href="/entry/606350#0008">606350.0008</a>). The mean age at onset was 5 years with gait ataxia as the presenting symptom. Cerebellar ataxia affecting all 4 limbs and the trunk developed soon thereafter. Other features included dysarthria, ocular apraxia, distal sensory axonal neuropathy, and marked cerebellar atrophy by brain imaging. Hypoalbuminemia and hypercholesterolemia were also present. Affected members of 1 of the families had a somewhat atypical phenotype with absence of oculomotor apraxia, except in 1 patient, and preservation of knee reflexes. None of the patients had mental impairment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15365154" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Criscuolo, C., Mancini, P., Sacca, F., De Michele, G., Monticelli, A., Santoro, L., Scarano, V., Banfi, S., Filla, A. <strong>Ataxia with oculomotor apraxia type 1 in southern Italy: late onset and variable phenotype.</strong> Neurology 63: 2173-2175, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15596775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15596775</a>] [<a href="https://doi.org/10.1212/01.wnl.0000145604.57000.36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15596775">Criscuolo et al. (2004)</a> reported 3 unrelated Italian patients with AOA confirmed by genetic analysis. Two of the patients had adult onset at ages 28 and 29, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15596775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Criscuolo, C., Mancini, P., Menchise, V., Sacca, F., De Michele, G., Banfi, S., Filla, A. <strong>Very late onset in ataxia oculomotor apraxia type I. (Letter)</strong> Ann. Neurol. 57: 777 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15852392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15852392</a>] [<a href="https://doi.org/10.1002/ana.20463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15852392">Criscuolo et al. (2005)</a> reported a patient with adult-onset AOA confirmed by genetic analysis (<a href="/entry/606350#0009">606350.0009</a>). The patient had onset of gait ataxia and dysarthria at age 40 years. Physical examination showed normal ocular movements, tongue and limb fasciculations, areflexia, and decreased vibration sense at the external malleoli. MRI showed cerebellar atrophy. Serum albumin was normal. <a href="#7" class="mim-tip-reference" title="Criscuolo, C., Mancini, P., Menchise, V., Sacca, F., De Michele, G., Banfi, S., Filla, A. <strong>Very late onset in ataxia oculomotor apraxia type I. (Letter)</strong> Ann. Neurol. 57: 777 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15852392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15852392</a>] [<a href="https://doi.org/10.1002/ana.20463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15852392">Criscuolo et al. (2005)</a> emphasized that milder phenotypes of AOA may occur in adults. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15852392" 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="Castellotti, B., Mariotti, C., Rimoldi, M., Fancellu, R., Plumari, M., Caimi, S., Uziel, G., Nardocci, N., Moroni, I., Zorzi, G., Pareyson, D., Di Bella, D., Di Donato, S., Taroni, F., Gellera, C. <strong>Ataxia with oculomotor apraxia type 1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.</strong> Neurogenetics 12: 193-201, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21465257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21465257</a>] [<a href="https://doi.org/10.1007/s10048-011-0281-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21465257">Castellotti et al. (2011)</a> identified APTX mutations in 13 (6.4%) of 204 Italian patients with progressive cerebellar ataxia. The patients had onset between ages 3 and 7 years, but most were examined as adults. The phenotype was homogeneous, characterized mainly by gait and limb ataxia, dysarthria, nystagmus, lower limb areflexia, sensory neuropathy, cognitive decline, dysarthria, and oculomotor deficits. Some had choreic movements of the upper limbs and face, and many had distal muscle weakness and atrophy affecting both upper and lower limbs. Six patients were wheelchair-bound in young adulthood. Six patients had mental retardation since early childhood, whereas 5 showed cognitive decline later in life. Hypoalbuminemia was found in 58%, and hypercholesterolemia in 69%. Three patients had increased alpha-fetoprotein (AFP; <a href="/entry/104150">104150</a>). Analyses of coenzyme Q10 in muscle, fibroblasts, and plasma demonstrated normal levels of coenzyme in 5 of 6 patients. There were no genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21465257" 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="#13" class="mim-tip-reference" title="Hannan, M. A., Sigut, D., Waghray, M., Gascon, G. G. <strong>Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families.</strong> J. Med. Genet. 31: 953-956, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7891378/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7891378</a>] [<a href="https://doi.org/10.1136/jmg.31.12.953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7891378">Hannan et al. (1994)</a> studied cultured fibroblasts from 3 patients with ataxia-oculomotor apraxia and their asymptomatic relatives in comparison with fibroblasts from a classic AT homozygote, an AT heterozygote, and 4 healthy subjects. Cell survival after acute and chronic irradiation was investigated. While a moderately increased cellular sensitivity (compared to normal) was observed in 2 AOA patients and most of their relatives, the degree of their radiosensitivity was quite different from that of the AT homozygote after both acute and chronic irradiation. A comparison of peripheral blood lymphocytes from spontaneous and acute radiation-induced chromosomal breaks also failed to show similarity between AOA and AT. The data were interpreted as indicating either that AOA and AT are distinct disease entities controlled by separate genes or that AOA is due to compound heterozygosity involving different AT genes that promote the manifestation of AOA characteristics. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7891378" 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>Aprataxin has been shown to interact with poly(ADP-ribose) polymerase-1 (PARP1; <a href="/entry/173870">173870</a>), a key player in the detection of DNA single-strand breaks. <a href="#14" class="mim-tip-reference" title="Harris, J. L., Jakob, B., Taucher-Scholz, G., Dianov, G. L., Becherel, O. J., Lavin, M. F. <strong>Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.</strong> Hum. Molec. Genet. 18: 4102-4117, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19643912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19643912</a>] [<a href="https://doi.org/10.1093/hmg/ddp359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19643912">Harris et al. (2009)</a> reported reduced expression of PARP1, apurinic endonuclease-1 (APEX1; <a href="/entry/107748">107748</a>) and OGG1 (<a href="/entry/601982">601982</a>) in AOA1 cells and demonstrated a requirement for PARP1 in the recruitment of aprataxin to sites of DNA single-strand breaks. Mouse embryonic fibroblasts (MEFs) derived from Parp1-knockout mice showed reduced levels of aprataxin and reduced DNA-adenylate hydrolysis; however, inhibition of PARP1 activity did not affect aprataxin activity in vitro. Rather, aprataxin failed to relocalize to sites of DNA single-strand breaks in Parp1-null MEFs compared to wildtype cells, and inhibition of PARP1 activity resulted in delayed recruitment of aprataxin to DNA breaks. There were elevated levels of oxidative DNA damage in AOA1 cells coupled with reduced base excision and gap filling repair efficiencies indicative of a synergy between aprataxin, PARP1, APE1 and OGG1 in the DNA damage response. <a href="#14" class="mim-tip-reference" title="Harris, J. L., Jakob, B., Taucher-Scholz, G., Dianov, G. L., Becherel, O. J., Lavin, M. F. <strong>Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.</strong> Hum. Molec. Genet. 18: 4102-4117, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19643912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19643912</a>] [<a href="https://doi.org/10.1093/hmg/ddp359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19643912">Harris et al. (2009)</a> proposed both direct and indirect modulating functions for aprataxin on base excision repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19643912" 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="Garcia-Diaz, B., Barca, E., Balreira, A., Lopez, L. C., Tadesse, S., Krishna, S., Naini, A., Mariotti, C., Castellotti, B., Quinzii, C. M. <strong>Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.</strong> Hum. Molec. Genet. 24: 4516-4529, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25976310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25976310</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25976310[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/10.1093/hmg/ddv183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25976310">Garcia-Diaz et al. (2015)</a> found that most, but not all, cell lines derived from AOA1 patient fibroblasts showed coenzyme Q10 (CoQ10) deficiency due to reduced mRNA and protein expression of PDSS1 (<a href="/entry/607429">607429</a>), the first committed enzyme of CoQ10 biosynthesis. Low PDSS1 was caused by reduced activity of a transcriptional regulatory pathway that included APE1, NRF1 (<a href="/entry/600879">600879</a>), and NRF2 (see <a href="/entry/600609">600609</a>). Knockdown of APTX or APE1 in HeLa cells recapitulated CoQ10 deficiency and other mitochondrial abnormalities, and these abnormalities were reversed by upregulation of NRF2. <a href="#12" class="mim-tip-reference" title="Garcia-Diaz, B., Barca, E., Balreira, A., Lopez, L. C., Tadesse, S., Krishna, S., Naini, A., Mariotti, C., Castellotti, B., Quinzii, C. M. <strong>Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.</strong> Hum. Molec. Genet. 24: 4516-4529, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25976310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25976310</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25976310[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/10.1093/hmg/ddv183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25976310">Garcia-Diaz et al. (2015)</a> concluded that mitochondrial dysfunction in APTX-depleted cells is not due to involvement of APTX in mtDNA repair, but rather to a role for APTX in transcriptional regulation of mitochondrial function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25976310" 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="#9" class="mim-tip-reference" title="Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., Koike, R., Hiroi, T., Yuasa, T., Awaya, Y., Sakai, T., and 9 others. <strong>Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.</strong> Nature Genet. 29: 184-188, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586299</a>] [<a href="https://doi.org/10.1038/ng1001-184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11586299">Date et al. (2001)</a> identified a group of Japanese patients whose clinical presentation was characterized by autosomal recessive inheritance, early age at onset, Friedreich ataxia (FRDA; <a href="/entry/229300">229300</a>)-like clinical presentations, and hypoalbuminemia. Linkage to the FRDA locus was excluded. They confirmed that the disorder in these patients was linked to the same locus, 9p13, as the ataxia-oculomotor apraxia syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11586299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Moreira, M. C., Barbot, C., Tachi, N., Kozuka, N., Mendonca, P., Barros, J., Coutinho, P., Sequerios, J., Koenig, M. <strong>Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.</strong> Am. J. Hum. Genet. 68: 501-508, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11170899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11170899</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11170899[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11170899">Moreira et al. (2001)</a> studied 13 Portuguese families with AOA and found that the 2 largest families showed linkage to 9p, with lod scores of 4.13 and 3.82, respectively, at a recombination fraction of 0.0. These and 3 smaller families, all from northern Portugal, showed homozygosity and haplotype sharing over a 2-cM region on 9p13.3, demonstrating founder effect and linkage to this locus, designated AOA1, in the 5 families. Three other families were excluded from this locus, demonstrating nonallelic heterogeneity in AOA. They also analyzed 2 unrelated Japanese families with early-onset cerebellar ataxia with hypoalbuminemia (EOCA-HA). This disorder, described only in Japan (<a href="#26" class="mim-tip-reference" title="Uekawa, K., Yuasa, T., Kawasaki, S., Makibuchi, T., Ideta, T. <strong>A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia--a variant form of Friedreich's disease or a new clinical entity?</strong> Rinsho Shinkeigaku 32: 1067-1074, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1297549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1297549</a>]" pmid="1297549">Uekawa et al., 1992</a>; <a href="#11" class="mim-tip-reference" title="Fukuhara, N., Nakajima, T., Sakajiri, K., Matsubara, N., Fujita, M. <strong>Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease.</strong> J. Neurol. Sci. 133: 140-151, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8583217/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8583217</a>] [<a href="https://doi.org/10.1016/0022-510x(95)00176-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8583217">Fukuhara et al., 1995</a>; <a href="#23" class="mim-tip-reference" title="Sekijima, Y., Ohara, S., Nakagawa, S., Tabata, K., Yoshida, K., Ishigame, H., Shimizu, Y., Yanagisawa, N. <strong>Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family.</strong> J. Neurol. Sci. 158: 30-37, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9667774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9667774</a>] [<a href="https://doi.org/10.1016/s0022-510x(98)00103-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9667774">Sekijima et al., 1998</a>; <a href="#25" class="mim-tip-reference" title="Tachi, N., Kozuka, N., Ohya, K., Chiba, S., Sasaki, K. <strong>Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation.</strong> Europ. Neurol. 43: 82-87, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10686465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10686465</a>] [<a href="https://doi.org/10.1159/000008140" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10686465">Tachi et al., 2000</a>), is characterized by marked cerebellar atrophy, peripheral neuropathy, mental retardation, and occasionally oculomotor apraxia. Both families appeared to show linkage to the AOA1 locus. Subsequently, the authors found hypoalbuminemia in all 5 Portuguese families with AOA1 with a long disease duration, suggesting that AOA1 and EOCA-HA correspond to the same entity that accounts for a significant proportion of all recessive ataxias. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1297549+8583217+10686465+11170899+9667774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>9q Locus</em></strong></p><p>
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<a href="#21" class="mim-tip-reference" title="Nemeth, A. H., Bochukova, E., Dunne, E., Huson, S. M., Elston, J., Hannan, M. A., Jackson, M., Chapman, C. J., Taylor, A. M. R. <strong>Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.</strong> Am. J. Hum. Genet. 67: 1320-1326, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11022012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11022012</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11022012[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/10.1016/S0002-9297(07)62962-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11022012">Nemeth et al. (2000)</a> identified a family with ataxia and oculomotor apraxia in which the disorder showed linkage to 9q34; see <a href="/entry/606002">606002</a>. <a href="#5" class="mim-tip-reference" title="Bomont, P., Watanabe, M., Gershoni-Barush, R., Shizuka, M., Tanaka, M., Sugano, J., Guiraud-Chaumeil, C., Koenig, M. <strong>Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.</strong> Europ. J. Hum. Genet. 8: 986-990, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11175288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11175288</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11175288">Bomont et al. (2000)</a> performed linkage studies in the Japanese family reported by <a href="#27" class="mim-tip-reference" title="Watanabe, M., Sugai, Y., Concannon, P., Koenig, M., Schmitt, M., Sato, M., Shizuka, M., Mizushima, K., Ikeda, Y., Tomidokoro, Y., Okamoto, K., Shoji, M. <strong>Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.</strong> Ann. Neurol. 44: 265-269, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9708552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9708552</a>] [<a href="https://doi.org/10.1002/ana.410440220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9708552">Watanabe et al. (1998)</a> in which 4 affected sibs had spinocerebellar ataxia associated with elevated levels of serum creatine kinase, gamma-globulin, and alpha-fetoprotein. Homozygosity over a 20-cM region allowed demonstration of linkage at 9q33.3-q34.3 with a lod score of 3.0. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9708552+11022012+11175288" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Koenig, M. <strong>Personal Communication.</strong> Strasbourg, France 3/9/2001."None>Koenig (2001)</a> concluded that there are 2 recessive ataxia loci on chromosome 9: one on 9p, the site of the APTX gene, and one on 9q. The disorder that maps to 9p13 appears always to be associated with oculomotor apraxia (<a href="#4" class="mim-tip-reference" title="Barbot, C., Coutinho, P., Chorao, R., Ferriera, C., Barros, J., Fineza, I., Dias, K., Monteiro, J. P., Guimaraes, A., Mendonca, P., Moreira, M. C., Sequeiros, J. <strong>Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.</strong> Arch. Neurol. 58: 201-205, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11176957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11176957</a>] [<a href="https://doi.org/10.1001/archneur.58.2.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11176957">Barbot et al., 2001</a>), early onset (usually between 2 and 6 years of age), and hypoalbuminemia after a long disease duration. The disorder on 9q34 is of later onset (between 11 and 22 years) and is occasionally associated with oculomotor apraxia or elevated gamma-globulin, alpha-fetoprotein, and creatine kinase. Tentatively, early-onset ataxia with oculomotor apraxia and hypoalbuminemia, which appears to map to 9p13.3 and to be caused by mutation in the aprataxin gene, will be referred to as ataxia-oculomotor apraxia-1, whereas ataxia of later onset with inconsistent association of oculomotor apraxia will be designated ataxia-oculomotor apraxia-2. <a href="#15" class="mim-tip-reference" title="Koenig, M. <strong>Personal Communication.</strong> Strasbourg, France 3/9/2001."None>Koenig (2001)</a> suggested that the designation AOA is inappropriate for the form of ataxia mapped to 9q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11176957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By 2001, the ongoing survey initiated in 1993 of hereditary ataxias and spastic paraplegias in Portugal, a country of 9.8 million persons, had identified 107 patients with autosomal recessive ataxia (<a href="#4" class="mim-tip-reference" title="Barbot, C., Coutinho, P., Chorao, R., Ferriera, C., Barros, J., Fineza, I., Dias, K., Monteiro, J. P., Guimaraes, A., Mendonca, P., Moreira, M. C., Sequeiros, J. <strong>Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.</strong> Arch. Neurol. 58: 201-205, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11176957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11176957</a>] [<a href="https://doi.org/10.1001/archneur.58.2.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11176957">Barbot et al., 2001</a>). Friedreich ataxia (FRDA; <a href="/entry/229300">229300</a>) accounted for 38% of the cases. The next most common recessive ataxia in the survey, accounting for 21% of the cases, was ataxia with oculomotor apraxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11176957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Anheim, M., Fleury, M., Monga, B., Laugel, V., Chaigne, D., Rodier, G., Ginglinger, E., Boulay, C., Courtois, S., Drouot, N., Fritsch, M., Delaunoy, J. P., Stoppa-Lyonnet, D., Tranchant, C., Koenig, M. <strong>Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.</strong> Neurogenetics 11: 1-12, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19440741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19440741</a>] [<a href="https://doi.org/10.1007/s10048-009-0196-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19440741">Anheim et al. (2010)</a> found that AOA1 was the fourth most common form of autosomal recessive cerebellar ataxia in a cohort of 102 patients from Alsace, France. Of 57 patients for whom a molecular diagnosis could be determined, 3 were affected with AOA1. FRDA was the most common diagnosis, found in 36 of 57 patients, AOA2 (<a href="/entry/606002">606002</a>) was the second most common diagnosis, found in 7 patients, and ataxia-telangiectasia (AT; <a href="/entry/208900">208900</a>) was the third most common diagnosis, found in 4 patients. Marinesco-Sjogren syndrome (MSS; <a href="/entry/248800">248800</a>) was also found in 3 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19440741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="mim-changed mim-change"><p>The transmission pattern of AOA in the families reported by <a href="#9" class="mim-tip-reference" title="Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., Koike, R., Hiroi, T., Yuasa, T., Awaya, Y., Sakai, T., and 9 others. <strong>Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.</strong> Nature Genet. 29: 184-188, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586299</a>] [<a href="https://doi.org/10.1038/ng1001-184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11586299">Date et al. (2001)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11586299" 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></div>
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<p><a href="#9" class="mim-tip-reference" title="Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., Koike, R., Hiroi, T., Yuasa, T., Awaya, Y., Sakai, T., and 9 others. <strong>Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.</strong> Nature Genet. 29: 184-188, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586299</a>] [<a href="https://doi.org/10.1038/ng1001-184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11586299">Date et al. (2001)</a> characterized 7 families from various regions of Japan with clinical manifestations like those of the ataxia-oculomotor apraxia syndrome and again showed mapping to 9p13 as in Europeans and people of European descent. They narrowed the candidate region and identified a novel gene encoding a member of the histidine triad (HIT, e.g., <a href="/entry/601153">601153</a>, <a href="/entry/601314">601314</a>) superfamily as the causative gene. They called its product aprataxin and assigned the gene symbol APTX (<a href="/entry/606350">606350</a>); this was the first member of the HIT superfamily to be linked to a distinct phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11586299" 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="#19" class="mim-tip-reference" title="Moreira, M.-C., Barbot, C., Tachi, N., Kozuka, N., Uchida, E., Gibson, T., Mendonca, P., Costa, M., Barros, J., Yanagisawa, T., Watanabe, M., Ikeda, Y., Aoki, M., Nagata, T., Coutinho, P., Sequeiros, J., Koenig, M. <strong>The gene mutated in ataxia-oculomotor apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.</strong> Nature Genet. 29: 189-193, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586300</a>] [<a href="https://doi.org/10.1038/ng1001-189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11586300">Moreira et al. (2001)</a> and <a href="#9" class="mim-tip-reference" title="Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., Koike, R., Hiroi, T., Yuasa, T., Awaya, Y., Sakai, T., and 9 others. <strong>Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.</strong> Nature Genet. 29: 184-188, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586299</a>] [<a href="https://doi.org/10.1038/ng1001-184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11586299">Date et al. (2001)</a> demonstrated mutations in the APTX gene as the cause of AOA in their Portuguese and Japanese populations (<a href="/entry/606350#0001">606350.0001</a>-<a href="/entry/606350#0004">606350.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11586300+11586299" 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="Castellotti, B., Mariotti, C., Rimoldi, M., Fancellu, R., Plumari, M., Caimi, S., Uziel, G., Nardocci, N., Moroni, I., Zorzi, G., Pareyson, D., Di Bella, D., Di Donato, S., Taroni, F., Gellera, C. <strong>Ataxia with oculomotor apraxia type 1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.</strong> Neurogenetics 12: 193-201, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21465257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21465257</a>] [<a href="https://doi.org/10.1007/s10048-011-0281-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21465257">Castellotti et al. (2011)</a> identified recessive APTX mutations in 13 (6.4%) of 204 Italian probands with progressive cerebellar ataxia. The most common mutation was W279X (<a href="/entry/606350#0006">606350.0006</a>), which was found in homozygous state in 7 patients and in compound heterozygosity with another pathogenic APTX mutation in 1 patient. Three additional novel mutations were identified. Western blot analysis of patient lymphocytes showed severely decreased levels of APTX protein, consistent with loss of function as a disease mechanism. There were no genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21465257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#22" class="mim-tip-reference" title="Quinzii, C. M., Kattah, A. G., Naini, A., Akman, H. O., Mootha, V. K., DiMauro, S., Hirano, M. <strong>Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.</strong> Neurology 64: 539-541, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15699391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15699391</a>] [<a href="https://doi.org/10.1212/01.WNL.0000150588.75281.58" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15699391">Quinzii et al. (2005)</a> found that 3 sibs originally reported by <a href="#20" class="mim-tip-reference" title="Musumeci, O., Naini, A., Slonim, A. E., Skavin, N., Hadjigeorgiou, G. L., Krawiecki, N., Weissman, B. M., Tsao, C.-Y., Mendell, J. R., Shanske, S., De Vivo, D. C., Hirano, M., DiMauro, S. <strong>Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.</strong> Neurology 56: 849-855, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11294920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11294920</a>] [<a href="https://doi.org/10.1212/wnl.56.7.849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11294920">Musumeci et al. (2001)</a> as having familial cerebellar ataxia with muscle coenzyme Q10 (CoQ10) deficiency (see, e.g., COQ10D1, <a href="/entry/607426">607426</a>) actually had AOA1 due to a homozygous mutation in the APTX gene (W279X; <a href="/entry/606350#0006">606350.0006</a>). All 3 patients responded well to CoQ10 supplementation. Thirteen additional patients with coenzyme Q deficiency did not have APTX mutations. <a href="#22" class="mim-tip-reference" title="Quinzii, C. M., Kattah, A. G., Naini, A., Akman, H. O., Mootha, V. K., DiMauro, S., Hirano, M. <strong>Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.</strong> Neurology 64: 539-541, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15699391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15699391</a>] [<a href="https://doi.org/10.1212/01.WNL.0000150588.75281.58" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15699391">Quinzii et al. (2005)</a> noted that CoQ10 deficiency has been associated with 3 major clinical phenotypes and remarked that the finding of mutation in the APTX gene in these sibs supports the hypothesis that the ataxic form of CoQ10 deficiency is a genetically heterogeneous entity in which deficiency of CoQ10 can be secondary. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11294920+15699391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Le Ber, I., Dubourg, O., Benoist, J.-F., Jardel, C., Mochel, F., Koenig, M., Brice, A., Lombes, A., Durr, A. <strong>Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.</strong> Neurology 68: 295-297, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17242337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17242337</a>] [<a href="https://doi.org/10.1212/01.wnl.0000252366.10731.43" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17242337">Le Ber et al. (2007)</a> found decreased muscle CoQ10 in 5 of 6 patients with AOA1. Three patients who were homozygous for the W279X mutation had the lowest values. The CoQ10 deficiency did not correlate with disease duration, severity, or other blood parameters, and mitochondrial morphology and respiratory function were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17242337" 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="#9" class="mim-tip-reference" title="Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., Koike, R., Hiroi, T., Yuasa, T., Awaya, Y., Sakai, T., and 9 others. <strong>Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.</strong> Nature Genet. 29: 184-188, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586299</a>] [<a href="https://doi.org/10.1038/ng1001-184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11586299">Date et al. (2001)</a> suggested that the best name for this disorder is 'early-onset ataxia with oculomotor apraxia and hypoalbuminemia' (EAOH). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11586299" 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>According to <a href="#10" class="mim-tip-reference" title="Dawson, D. M. <strong>Recessive ataxia with ocular motor apraxia. (Editorial)</strong> Arch. Neurol. 58: 173-174, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11176953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11176953</a>] [<a href="https://doi.org/10.1001/archneur.58.2.173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11176953">Dawson (2001)</a>, the syndrome of ataxia with oculomotor apraxia is sometimes referred to as Aicardi syndrome; this runs the risk of confusion with the other Aicardi syndrome, agenesis of the corpus callosum with chorioretinal abnormalities (<a href="/entry/304050">304050</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11176953" 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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Aicardi, J., Barbosa, C., Andermann, E., Andermann, F., Morcos, R., Ghanem, Z., Fukuyama, Y., Awaya, Y., Moe, P.
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<strong>Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia.</strong>
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[<a href="https://doi.org/10.1002/ana.410240404" target="_blank">Full Text</a>]
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Amouri, R., Moreira, M.-C., Zouari, M., El Euch, G., Barhoumi, C., Kefi, M., Belal, S., Koenig, M., Hentati, F.
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<strong>Aprataxin gene mutations in Tunisian families</strong>
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Neurology 63: 928-929, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15365154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15365154</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15365154" 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.0000137044.06573.46" target="_blank">Full Text</a>]
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Anheim, M., Fleury, M., Monga, B., Laugel, V., Chaigne, D., Rodier, G., Ginglinger, E., Boulay, C., Courtois, S., Drouot, N., Fritsch, M., Delaunoy, J. P., Stoppa-Lyonnet, D., Tranchant, C., Koenig, M.
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<strong>Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.</strong>
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Neurogenetics 11: 1-12, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19440741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19440741</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19440741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-009-0196-y" target="_blank">Full Text</a>]
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Barbot, C., Coutinho, P., Chorao, R., Ferriera, C., Barros, J., Fineza, I., Dias, K., Monteiro, J. P., Guimaraes, A., Mendonca, P., Moreira, M. C., Sequeiros, J.
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<strong>Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.</strong>
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Arch. Neurol. 58: 201-205, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11176957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11176957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11176957" 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.58.2.201" target="_blank">Full Text</a>]
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Bomont, P., Watanabe, M., Gershoni-Barush, R., Shizuka, M., Tanaka, M., Sugano, J., Guiraud-Chaumeil, C., Koenig, M.
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<strong>Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.</strong>
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Europ. J. Hum. Genet. 8: 986-990, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11175288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11175288</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11175288" 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/sj.ejhg.5200586" target="_blank">Full Text</a>]
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Castellotti, B., Mariotti, C., Rimoldi, M., Fancellu, R., Plumari, M., Caimi, S., Uziel, G., Nardocci, N., Moroni, I., Zorzi, G., Pareyson, D., Di Bella, D., Di Donato, S., Taroni, F., Gellera, C.
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<strong>Ataxia with oculomotor apraxia type 1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.</strong>
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Neurogenetics 12: 193-201, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21465257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21465257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21465257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-011-0281-x" target="_blank">Full Text</a>]
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<a id="Criscuolo2005" class="mim-anchor"></a>
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Criscuolo, C., Mancini, P., Menchise, V., Sacca, F., De Michele, G., Banfi, S., Filla, A.
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<strong>Very late onset in ataxia oculomotor apraxia type I. (Letter)</strong>
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Ann. Neurol. 57: 777 only, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15852392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15852392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15852392" 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.20463" target="_blank">Full Text</a>]
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Criscuolo, C., Mancini, P., Sacca, F., De Michele, G., Monticelli, A., Santoro, L., Scarano, V., Banfi, S., Filla, A.
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<strong>Ataxia with oculomotor apraxia type 1 in southern Italy: late onset and variable phenotype.</strong>
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Neurology 63: 2173-2175, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15596775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15596775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15596775" 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.0000145604.57000.36" target="_blank">Full Text</a>]
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Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., Koike, R., Hiroi, T., Yuasa, T., Awaya, Y., Sakai, T., and 9 others.
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<strong>Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.</strong>
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Nature Genet. 29: 184-188, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11586299" 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/ng1001-184" target="_blank">Full Text</a>]
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Dawson, D. M.
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<strong>Recessive ataxia with ocular motor apraxia. (Editorial)</strong>
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Arch. Neurol. 58: 173-174, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11176953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11176953</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11176953" 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.58.2.173" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.59.5.874" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000252366.10731.43" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/318191" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.410440220" 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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Patricia A. Hartz - updated : 9/23/2015
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Cassandra L. Kniffin - updated : 10/31/2012<br>Cassandra L. Kniffin - updated : 5/25/2012<br>George E. Tiller - updated : 9/30/2010<br>Cassandra L. Kniffin - updated : 2/4/2008<br>Cassandra L. Kniffin - updated : 8/15/2005<br>Cassandra L. Kniffin - updated : 3/14/2005<br>Cassandra L. Kniffin - updated : 2/22/2005<br>Cassandra L. Kniffin - updated : 12/10/2002<br>Cassandra L. Kniffin - updated : 11/6/2002<br>Victor A. McKusick - updated : 12/3/2001<br>Victor A. McKusick - updated : 10/2/2001<br>Victor A. McKusick - updated : 5/29/2001<br>Victor A. McKusick - updated : 3/8/2001<br>Victor A. McKusick - updated : 11/21/2000
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 11/23/1988
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carol : 12/12/2024
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carol : 11/13/2017<br>mgross : 09/24/2015<br>mgross : 9/23/2015<br>alopez : 3/20/2015<br>ckniffin : 3/16/2015<br>carol : 3/10/2015<br>carol : 11/6/2012<br>ckniffin : 10/31/2012<br>carol : 5/25/2012<br>ckniffin : 5/23/2012<br>terry : 4/12/2012<br>wwang : 10/13/2010<br>terry : 9/30/2010<br>wwang : 3/2/2010<br>ckniffin : 3/1/2010<br>wwang : 2/19/2008<br>ckniffin : 2/4/2008<br>alopez : 9/14/2006<br>alopez : 2/1/2006<br>wwang : 8/30/2005<br>wwang : 8/23/2005<br>ckniffin : 8/15/2005<br>carol : 7/5/2005<br>ckniffin : 6/28/2005<br>wwang : 3/18/2005<br>ckniffin : 3/14/2005<br>ckniffin : 2/22/2005<br>tkritzer : 5/27/2004<br>ckniffin : 5/21/2004<br>carol : 12/17/2002<br>carol : 12/17/2002<br>ckniffin : 12/16/2002<br>tkritzer : 12/12/2002<br>ckniffin : 12/10/2002<br>carol : 11/13/2002<br>ckniffin : 11/6/2002<br>carol : 12/11/2001<br>mcapotos : 12/10/2001<br>terry : 12/3/2001<br>alopez : 10/5/2001<br>alopez : 10/3/2001<br>terry : 10/2/2001<br>terry : 10/2/2001<br>terry : 10/2/2001<br>carol : 6/12/2001<br>terry : 6/5/2001<br>terry : 5/29/2001<br>terry : 3/26/2001<br>terry : 3/8/2001<br>carol : 11/27/2000<br>terry : 11/21/2000<br>carol : 2/7/1995<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>root : 12/6/1988
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<span class="mim-font">
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<strong>#</strong> 208920
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<h3>
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ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH
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<em>Alternative titles; symbols</em>
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ATAXIA-OCULOMOTOR APRAXIA SYNDROME; AOA<br />
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ATAXIA-OCULOMOTOR APRAXIA 1; AOA1<br />
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ATAXIA-TELANGIECTASIA-LIKE SYNDROME<br />
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CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA; EOCA-HA
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Other entities represented in this entry:
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<span class="h3 mim-font">
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ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED
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<strong>SNOMEDCT:</strong> 715366004;
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<strong>ORPHA:</strong> 1168;
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<strong>DO:</strong> 0050754;
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<strong>Phenotype-Gene Relationships</strong>
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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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9p21.1
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Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
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208920
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Autosomal recessive
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<span class="mim-font">
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3
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APTX
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<span class="mim-font">
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606350
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because early-onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH) is caused by homozygous or compound heterozygous mutation in the gene encoding aprataxin (APTX; 606350) on chromosome 9p21. Adult-onset ataxia with oculomotor apraxia is also caused by mutation in the APTX gene.</p>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001). </p><p><strong><em>Genetic Heterogeneity of Ataxia-Oculomotor Apraxia</em></strong></p><p>
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See also AOA2 (606002), caused by mutation in the SETX gene (608465) on chromosome 9q34; AOA3 (615217), caused by mutation in the PIK3R5 gene (611317) on chromosome 17p; and AOA4 (616267), caused by mutation in the PNKP gene (605610) on chromosome 19q13.</p>
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Aicardi et al. (1988) described an autosomal recessive syndrome that closely resembled ataxia-telangiectasia (AT; 208900) but differed in important respects. They reported 14 patients in 10 families with a neurologic syndrome of oculomotor apraxia, ataxia, and choreoathetosis who had none of the extraneurologic features of AT. Although the neurologic signs were indistinguishable from those of AT, the onset tended to be later and none of the patients had a tendency to frequent infections; further, immunoglobulins, alpha-fetoprotein, T- and B-lymphocyte markers, and chromosomes 7 and 14 were normal in all patients tested. </p><p>Barbot et al. (2001) reported 22 Portuguese patients with autosomal recessive cerebellar ataxia, ocular apraxia, and peripheral neuropathy with a mean age of onset of 4.7 years. There was no associated mental retardation, telangiectasia, or immunodeficiency. Barbot et al. (2001) concluded that ataxia with oculomotor apraxia may be more frequent than previously believed. Koeppen (2002) suggested that the patients reported by Barbot et al. (2001) may have exhibited supranuclear pseudoophthalmoplegia, which may be due to lesions in the nucleus pontis centralis caudalis of the paramedian pontine reticular formation. </p><p>Shimazaki et al. (2002) reported 5 Japanese patients with autosomal recessive EAOH from 3 families and 1 sporadic case. Clinical features included age of onset from 3 to 12 years, cerebellar ataxia, peripheral neuropathy, oculomotor apraxia and external ophthalmoplegia, choreiform movements of the limbs, facial grimacing, mental deterioration, cerebellar atrophy, hypoalbuminemia, and hypercholesterolemia. </p><p>Amouri et al. (2004) reported 3 unrelated Tunisian families with AOA, confirmed by mutation in the APTX gene (606350.0007; 606350.0008). The mean age at onset was 5 years with gait ataxia as the presenting symptom. Cerebellar ataxia affecting all 4 limbs and the trunk developed soon thereafter. Other features included dysarthria, ocular apraxia, distal sensory axonal neuropathy, and marked cerebellar atrophy by brain imaging. Hypoalbuminemia and hypercholesterolemia were also present. Affected members of 1 of the families had a somewhat atypical phenotype with absence of oculomotor apraxia, except in 1 patient, and preservation of knee reflexes. None of the patients had mental impairment. </p><p>Criscuolo et al. (2004) reported 3 unrelated Italian patients with AOA confirmed by genetic analysis. Two of the patients had adult onset at ages 28 and 29, respectively. </p><p>Criscuolo et al. (2005) reported a patient with adult-onset AOA confirmed by genetic analysis (606350.0009). The patient had onset of gait ataxia and dysarthria at age 40 years. Physical examination showed normal ocular movements, tongue and limb fasciculations, areflexia, and decreased vibration sense at the external malleoli. MRI showed cerebellar atrophy. Serum albumin was normal. Criscuolo et al. (2005) emphasized that milder phenotypes of AOA may occur in adults. </p><p>Castellotti et al. (2011) identified APTX mutations in 13 (6.4%) of 204 Italian patients with progressive cerebellar ataxia. The patients had onset between ages 3 and 7 years, but most were examined as adults. The phenotype was homogeneous, characterized mainly by gait and limb ataxia, dysarthria, nystagmus, lower limb areflexia, sensory neuropathy, cognitive decline, dysarthria, and oculomotor deficits. Some had choreic movements of the upper limbs and face, and many had distal muscle weakness and atrophy affecting both upper and lower limbs. Six patients were wheelchair-bound in young adulthood. Six patients had mental retardation since early childhood, whereas 5 showed cognitive decline later in life. Hypoalbuminemia was found in 58%, and hypercholesterolemia in 69%. Three patients had increased alpha-fetoprotein (AFP; 104150). Analyses of coenzyme Q10 in muscle, fibroblasts, and plasma demonstrated normal levels of coenzyme in 5 of 6 patients. There were no genotype/phenotype correlations. </p>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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<span class="mim-text-font">
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<p>Hannan et al. (1994) studied cultured fibroblasts from 3 patients with ataxia-oculomotor apraxia and their asymptomatic relatives in comparison with fibroblasts from a classic AT homozygote, an AT heterozygote, and 4 healthy subjects. Cell survival after acute and chronic irradiation was investigated. While a moderately increased cellular sensitivity (compared to normal) was observed in 2 AOA patients and most of their relatives, the degree of their radiosensitivity was quite different from that of the AT homozygote after both acute and chronic irradiation. A comparison of peripheral blood lymphocytes from spontaneous and acute radiation-induced chromosomal breaks also failed to show similarity between AOA and AT. The data were interpreted as indicating either that AOA and AT are distinct disease entities controlled by separate genes or that AOA is due to compound heterozygosity involving different AT genes that promote the manifestation of AOA characteristics. </p>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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<p>Aprataxin has been shown to interact with poly(ADP-ribose) polymerase-1 (PARP1; 173870), a key player in the detection of DNA single-strand breaks. Harris et al. (2009) reported reduced expression of PARP1, apurinic endonuclease-1 (APEX1; 107748) and OGG1 (601982) in AOA1 cells and demonstrated a requirement for PARP1 in the recruitment of aprataxin to sites of DNA single-strand breaks. Mouse embryonic fibroblasts (MEFs) derived from Parp1-knockout mice showed reduced levels of aprataxin and reduced DNA-adenylate hydrolysis; however, inhibition of PARP1 activity did not affect aprataxin activity in vitro. Rather, aprataxin failed to relocalize to sites of DNA single-strand breaks in Parp1-null MEFs compared to wildtype cells, and inhibition of PARP1 activity resulted in delayed recruitment of aprataxin to DNA breaks. There were elevated levels of oxidative DNA damage in AOA1 cells coupled with reduced base excision and gap filling repair efficiencies indicative of a synergy between aprataxin, PARP1, APE1 and OGG1 in the DNA damage response. Harris et al. (2009) proposed both direct and indirect modulating functions for aprataxin on base excision repair. </p><p>Garcia-Diaz et al. (2015) found that most, but not all, cell lines derived from AOA1 patient fibroblasts showed coenzyme Q10 (CoQ10) deficiency due to reduced mRNA and protein expression of PDSS1 (607429), the first committed enzyme of CoQ10 biosynthesis. Low PDSS1 was caused by reduced activity of a transcriptional regulatory pathway that included APE1, NRF1 (600879), and NRF2 (see 600609). Knockdown of APTX or APE1 in HeLa cells recapitulated CoQ10 deficiency and other mitochondrial abnormalities, and these abnormalities were reversed by upregulation of NRF2. Garcia-Diaz et al. (2015) concluded that mitochondrial dysfunction in APTX-depleted cells is not due to involvement of APTX in mtDNA repair, but rather to a role for APTX in transcriptional regulation of mitochondrial function. </p>
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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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<span class="mim-text-font">
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<p><strong><em>9p Locus (APTX gene)</em></strong></p><p>
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Date et al. (2001) identified a group of Japanese patients whose clinical presentation was characterized by autosomal recessive inheritance, early age at onset, Friedreich ataxia (FRDA; 229300)-like clinical presentations, and hypoalbuminemia. Linkage to the FRDA locus was excluded. They confirmed that the disorder in these patients was linked to the same locus, 9p13, as the ataxia-oculomotor apraxia syndrome. </p><p>Moreira et al. (2001) studied 13 Portuguese families with AOA and found that the 2 largest families showed linkage to 9p, with lod scores of 4.13 and 3.82, respectively, at a recombination fraction of 0.0. These and 3 smaller families, all from northern Portugal, showed homozygosity and haplotype sharing over a 2-cM region on 9p13.3, demonstrating founder effect and linkage to this locus, designated AOA1, in the 5 families. Three other families were excluded from this locus, demonstrating nonallelic heterogeneity in AOA. They also analyzed 2 unrelated Japanese families with early-onset cerebellar ataxia with hypoalbuminemia (EOCA-HA). This disorder, described only in Japan (Uekawa et al., 1992; Fukuhara et al., 1995; Sekijima et al., 1998; Tachi et al., 2000), is characterized by marked cerebellar atrophy, peripheral neuropathy, mental retardation, and occasionally oculomotor apraxia. Both families appeared to show linkage to the AOA1 locus. Subsequently, the authors found hypoalbuminemia in all 5 Portuguese families with AOA1 with a long disease duration, suggesting that AOA1 and EOCA-HA correspond to the same entity that accounts for a significant proportion of all recessive ataxias. </p><p><strong><em>9q Locus</em></strong></p><p>
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Nemeth et al. (2000) identified a family with ataxia and oculomotor apraxia in which the disorder showed linkage to 9q34; see 606002. Bomont et al. (2000) performed linkage studies in the Japanese family reported by Watanabe et al. (1998) in which 4 affected sibs had spinocerebellar ataxia associated with elevated levels of serum creatine kinase, gamma-globulin, and alpha-fetoprotein. Homozygosity over a 20-cM region allowed demonstration of linkage at 9q33.3-q34.3 with a lod score of 3.0. </p><p>Koenig (2001) concluded that there are 2 recessive ataxia loci on chromosome 9: one on 9p, the site of the APTX gene, and one on 9q. The disorder that maps to 9p13 appears always to be associated with oculomotor apraxia (Barbot et al., 2001), early onset (usually between 2 and 6 years of age), and hypoalbuminemia after a long disease duration. The disorder on 9q34 is of later onset (between 11 and 22 years) and is occasionally associated with oculomotor apraxia or elevated gamma-globulin, alpha-fetoprotein, and creatine kinase. Tentatively, early-onset ataxia with oculomotor apraxia and hypoalbuminemia, which appears to map to 9p13.3 and to be caused by mutation in the aprataxin gene, will be referred to as ataxia-oculomotor apraxia-1, whereas ataxia of later onset with inconsistent association of oculomotor apraxia will be designated ataxia-oculomotor apraxia-2. Koenig (2001) suggested that the designation AOA is inappropriate for the form of ataxia mapped to 9q. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</h4>
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<p>By 2001, the ongoing survey initiated in 1993 of hereditary ataxias and spastic paraplegias in Portugal, a country of 9.8 million persons, had identified 107 patients with autosomal recessive ataxia (Barbot et al., 2001). Friedreich ataxia (FRDA; 229300) accounted for 38% of the cases. The next most common recessive ataxia in the survey, accounting for 21% of the cases, was ataxia with oculomotor apraxia. </p><p>Anheim et al. (2010) found that AOA1 was the fourth most common form of autosomal recessive cerebellar ataxia in a cohort of 102 patients from Alsace, France. Of 57 patients for whom a molecular diagnosis could be determined, 3 were affected with AOA1. FRDA was the most common diagnosis, found in 36 of 57 patients, AOA2 (606002) was the second most common diagnosis, found in 7 patients, and ataxia-telangiectasia (AT; 208900) was the third most common diagnosis, found in 4 patients. Marinesco-Sjogren syndrome (MSS; 248800) was also found in 3 patients. </p>
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</span>
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<h4>
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<strong>Inheritance</strong>
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</span>
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</h4>
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<p>The transmission pattern of AOA in the families reported by Date et al. (2001) was consistent with autosomal recessive inheritance. </p>
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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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<p>Date et al. (2001) characterized 7 families from various regions of Japan with clinical manifestations like those of the ataxia-oculomotor apraxia syndrome and again showed mapping to 9p13 as in Europeans and people of European descent. They narrowed the candidate region and identified a novel gene encoding a member of the histidine triad (HIT, e.g., 601153, 601314) superfamily as the causative gene. They called its product aprataxin and assigned the gene symbol APTX (606350); this was the first member of the HIT superfamily to be linked to a distinct phenotype. </p><p>Moreira et al. (2001) and Date et al. (2001) demonstrated mutations in the APTX gene as the cause of AOA in their Portuguese and Japanese populations (606350.0001-606350.0004). </p><p>Castellotti et al. (2011) identified recessive APTX mutations in 13 (6.4%) of 204 Italian probands with progressive cerebellar ataxia. The most common mutation was W279X (606350.0006), which was found in homozygous state in 7 patients and in compound heterozygosity with another pathogenic APTX mutation in 1 patient. Three additional novel mutations were identified. Western blot analysis of patient lymphocytes showed severely decreased levels of APTX protein, consistent with loss of function as a disease mechanism. There were no genotype/phenotype correlations. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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<p>Quinzii et al. (2005) found that 3 sibs originally reported by Musumeci et al. (2001) as having familial cerebellar ataxia with muscle coenzyme Q10 (CoQ10) deficiency (see, e.g., COQ10D1, 607426) actually had AOA1 due to a homozygous mutation in the APTX gene (W279X; 606350.0006). All 3 patients responded well to CoQ10 supplementation. Thirteen additional patients with coenzyme Q deficiency did not have APTX mutations. Quinzii et al. (2005) noted that CoQ10 deficiency has been associated with 3 major clinical phenotypes and remarked that the finding of mutation in the APTX gene in these sibs supports the hypothesis that the ataxic form of CoQ10 deficiency is a genetically heterogeneous entity in which deficiency of CoQ10 can be secondary. </p><p>Le Ber et al. (2007) found decreased muscle CoQ10 in 5 of 6 patients with AOA1. Three patients who were homozygous for the W279X mutation had the lowest values. The CoQ10 deficiency did not correlate with disease duration, severity, or other blood parameters, and mitochondrial morphology and respiratory function were normal. </p>
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</span>
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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>Date et al. (2001) suggested that the best name for this disorder is 'early-onset ataxia with oculomotor apraxia and hypoalbuminemia' (EAOH). </p><p>According to Dawson (2001), the syndrome of ataxia with oculomotor apraxia is sometimes referred to as Aicardi syndrome; this runs the risk of confusion with the other Aicardi syndrome, agenesis of the corpus callosum with chorioretinal abnormalities (304050). </p>
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</span>
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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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Criscuolo, C., Mancini, P., Sacca, F., De Michele, G., Monticelli, A., Santoro, L., Scarano, V., Banfi, S., Filla, A.
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Date, H., Onodera, O., Tanaka, H., Iwabuchi, K., Uekawa, K., Igarashi, S., Koike, R., Hiroi, T., Yuasa, T., Awaya, Y., Sakai, T., and 9 others.
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Le Ber, I., Dubourg, O., Benoist, J.-F., Jardel, C., Mochel, F., Koenig, M., Brice, A., Lombes, A., Durr, A.
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Moreira, M. C., Barbot, C., Tachi, N., Kozuka, N., Mendonca, P., Barros, J., Coutinho, P., Sequerios, J., Koenig, M.
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<strong>Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.</strong>
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[PubMed: 11170899]
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<p class="mim-text-font">
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Moreira, M.-C., Barbot, C., Tachi, N., Kozuka, N., Uchida, E., Gibson, T., Mendonca, P., Costa, M., Barros, J., Yanagisawa, T., Watanabe, M., Ikeda, Y., Aoki, M., Nagata, T., Coutinho, P., Sequeiros, J., Koenig, M.
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<strong>The gene mutated in ataxia-oculomotor apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.</strong>
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Nature Genet. 29: 189-193, 2001.
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[PubMed: 11586300]
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[Full Text: https://doi.org/10.1038/ng1001-189]
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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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Musumeci, O., Naini, A., Slonim, A. E., Skavin, N., Hadjigeorgiou, G. L., Krawiecki, N., Weissman, B. M., Tsao, C.-Y., Mendell, J. R., Shanske, S., De Vivo, D. C., Hirano, M., DiMauro, S.
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<strong>Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.</strong>
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Neurology 56: 849-855, 2001.
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[PubMed: 11294920]
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[Full Text: https://doi.org/10.1212/wnl.56.7.849]
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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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Nemeth, A. H., Bochukova, E., Dunne, E., Huson, S. M., Elston, J., Hannan, M. A., Jackson, M., Chapman, C. J., Taylor, A. M. R.
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<strong>Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.</strong>
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Am. J. Hum. Genet. 67: 1320-1326, 2000.
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[PubMed: 11022012]
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[Full Text: https://doi.org/10.1016/S0002-9297(07)62962-0]
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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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Sekijima, Y., Ohara, S., Nakagawa, S., Tabata, K., Yoshida, K., Ishigame, H., Shimizu, Y., Yanagisawa, N.
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<strong>Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family.</strong>
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Shimazaki, H., Takiyama, Y., Sakoe, K., Ikeguchi, K., Niijima, K., Kaneko, J., Namekawa, M., Ogawa, T., Date, H., Tsuji, S., Nakano, I., Nishizawa, M.
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<strong>Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.</strong>
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Tachi, N., Kozuka, N., Ohya, K., Chiba, S., Sasaki, K.
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<strong>Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation.</strong>
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Uekawa, K., Yuasa, T., Kawasaki, S., Makibuchi, T., Ideta, T.
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<strong>A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia--a variant form of Friedreich's disease or a new clinical entity?</strong>
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[PubMed: 1297549]
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Watanabe, M., Sugai, Y., Concannon, P., Koenig, M., Schmitt, M., Sato, M., Shizuka, M., Mizushima, K., Ikeda, Y., Tomidokoro, Y., Okamoto, K., Shoji, M.
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<strong>Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.</strong>
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Patricia A. Hartz - updated : 9/23/2015<br>Cassandra L. Kniffin - updated : 10/31/2012<br>Cassandra L. Kniffin - updated : 5/25/2012<br>George E. Tiller - updated : 9/30/2010<br>Cassandra L. Kniffin - updated : 2/4/2008<br>Cassandra L. Kniffin - updated : 8/15/2005<br>Cassandra L. Kniffin - updated : 3/14/2005<br>Cassandra L. Kniffin - updated : 2/22/2005<br>Cassandra L. Kniffin - updated : 12/10/2002<br>Cassandra L. Kniffin - updated : 11/6/2002<br>Victor A. McKusick - updated : 12/3/2001<br>Victor A. McKusick - updated : 10/2/2001<br>Victor A. McKusick - updated : 5/29/2001<br>Victor A. McKusick - updated : 3/8/2001<br>Victor A. McKusick - updated : 11/21/2000
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Victor A. McKusick : 11/23/1988
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