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Entry
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- #168605 - PERRY SYNDROME
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- OMIM
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<p>
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<span class="h4">#168605</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/168605"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<div><a href="https://clinicaltrials.gov/search?cond=PERRY SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18037&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/NBK47027/" 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://medlineplus.gov/genetics/condition/perry-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=168605[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=178509" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060486" 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/168605" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060486" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span 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 id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 699184009<br />
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<strong>ORPHA:</strong> 178509<br />
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<strong>DO:</strong> 0060486<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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168605
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</span>
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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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PERRY SYNDROME
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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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<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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PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION
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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="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/377?start=-3&limit=10&highlight=377">
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2p13.1
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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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Perry syndrome
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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/168605"> 168605 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<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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<td>
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<span class="mim-font">
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DCTN1
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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/601143"> 601143 </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 class="btn-group ">
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<a href="/clinicalSynopsis/168605" 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="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">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/168605" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/168605" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<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>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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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> GROWTH </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> Weight </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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|
|
- Weight loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89362005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89362005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/816160009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">816160009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/262285001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">262285001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161832001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161832001</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3540682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3540682</a>, <a href="https://bioportal.bioontology.org/search?q=C5203233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5203233</a>, <a href="https://bioportal.bioontology.org/search?q=C1262477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1262477</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001824</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001824</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<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">
|
|
|
|
- Vertical gaze palsy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246773002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246773002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339652&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339652</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000511</a>]</span><br /> -
|
|
Slowing of vertical saccades <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011795</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
</div>
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|
|
</div>
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|
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|
</div>
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|
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|
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|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypoventilation, central <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805839&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805839</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007110</a>]</span><br /> -
|
|
Respiratory insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409623005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409623005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1145670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1145670</a>, <a href="https://bioportal.bioontology.org/search?q=C0035229&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035229</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002878</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
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|
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|
|
</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Parkinsonism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32798002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32798002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G20.C" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G20.C</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span><br /> -
|
|
Insomnia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193462001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193462001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G47.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G47.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1950154&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1950154</a>, <a href="https://bioportal.bioontology.org/search?q=C0917801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0917801</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100785" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100785</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100785" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100785</a>]</span><br /> -
|
|
Frontotemporal dementia, behavioral variant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/716994006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">716994006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011788&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011788</a>]</span><br /> -
|
|
Neuronal loss in the substantia nigra <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846864&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846864</a>]</span><br /> -
|
|
Frontal lobe atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279888</a>]</span><br /> -
|
|
Midbrain atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011789&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011789</a>]</span><br /> -
|
|
TDP43-positive neuronal inclusions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011790</a>]</span><br /> -
|
|
Dystrophic neurites <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674684</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025713</a>]</span><br /> -
|
|
Axonal spheroids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278074&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278074</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000717" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000717</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000717" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000717</a>]</span><br /> -
|
|
Glial inclusions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011791&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011791</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br /> -
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Apathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20602000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20602000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0436596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0436596</a>, <a href="https://bioportal.bioontology.org/search?q=C0085632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000741</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000741</a>]</span><br /> -
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Inappropriate behavior <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112082005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112082005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233522&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233522</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000719</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset in fourth to fifth decade<br /> -
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Rapid progression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span><br /> -
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Variable response to levodopa treatment<br /> -
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Central hypoventilation occurs late in the disease and is often fatal<br /> -
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Variable presentation and manifestations<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the dynactin 1 gene (DCTN1, <a href="/entry/601143#0006">601143.0006</a>)<br />
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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 of evidence that Perry syndrome is caused by heterozygous mutation in the DCTN1 gene (<a href="/entry/601143">601143</a>) on chromosome 2p13.</p>
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<p>Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation (<a href="#5" class="mim-tip-reference" title="Perry, T. L., Bratty, P. J. A., Hansen, S., Kennedy, J., Urquhart, N., Dolman, C. L. <strong>Hereditary mental depression and parkinsonism with taurine deficiency.</strong> Arch. Neurol. 32: 108-113, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1122173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1122173</a>] [<a href="https://doi.org/10.1001/archneur.1975.00490440058009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1122173">Perry et al., 1975</a>). The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia (see, e.g., <a href="/entry/600274">600274</a>) and progressive supranuclear palsy (PSP; <a href="/entry/601104">601104</a>). There is intrafamilial variation in the manifestations of the disorder (summary by <a href="#1" class="mim-tip-reference" title="Caroppo, P., Le Ber, I., Clot, F., Rivaud-Pechoux, S., Camuzat, A., De Septenville, A., Boutoleau-Bretonniere, C., Mourlon, V., Sauvee, M., Lebouvier, T., Bonnet, A.-M., Levy, R., Vercelletto, M., Brice, A. <strong>DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.</strong> JAMA Neurol. 71: 208-215, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24343258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24343258</a>] [<a href="https://doi.org/10.1001/jamaneurol.2013.5100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24343258">Caroppo et al., 2014</a>; review by <a href="#10" class="mim-tip-reference" title="Wider, C., Dachsel, J. C., Farrer, M. J., Dickson, D. W., Tsuboi, Y., Wszolek, Z. L. <strong>Elucidating the genetics and pathology of Perry syndrome.</strong> J. Neurol. Sci. 289: 149-154, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732908[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/j.jns.2009.08.044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732908">Wider et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1122173+24343258+19732908" 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>Mutation in the DCTN1 gene can also cause autosomal dominant distal hereditary motor neuronopathy-14 (HMND14; <a href="/entry/607641">607641</a>) and confer increased susceptibility to amyotrophic lateral sclerosis (ALS; see <a href="/entry/105400">105400</a>).</p>
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<p><a href="#5" class="mim-tip-reference" title="Perry, T. L., Bratty, P. J. A., Hansen, S., Kennedy, J., Urquhart, N., Dolman, C. L. <strong>Hereditary mental depression and parkinsonism with taurine deficiency.</strong> Arch. Neurol. 32: 108-113, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1122173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1122173</a>] [<a href="https://doi.org/10.1001/archneur.1975.00490440058009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1122173">Perry et al. (1975)</a> described an unusual neuropsychiatric disorder inherited in an autosomal dominant fashion through 3 generations of a family. Symptoms began late in the fifth decade in 6 affected persons and death occurred after 4 to 6 years. The earliest and most prominent symptom was mental depression not responsive to antidepressant drugs or electroconvulsive therapy. Sleep disturbances, exhaustion and marked weight loss were features. Parkinsonism developed later, and respiratory failure occurred terminally. <a href="#5" class="mim-tip-reference" title="Perry, T. L., Bratty, P. J. A., Hansen, S., Kennedy, J., Urquhart, N., Dolman, C. L. <strong>Hereditary mental depression and parkinsonism with taurine deficiency.</strong> Arch. Neurol. 32: 108-113, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1122173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1122173</a>] [<a href="https://doi.org/10.1001/archneur.1975.00490440058009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1122173">Perry et al. (1975)</a> found greatly diminished taurine in plasma and cerebrospinal fluid, and at autopsy all regions of the brain showed markedly reduced taurine content. Taurine is a putative inhibitory synaptic transmitter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1122173" 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="Perry, T. L., Wright, J. M., Berry, K., Hansen, S., Perry, T. L., Jr. <strong>Dominantly inherited apathy, central hypoventilation, and parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases.</strong> Neurology 40: 1882-1887, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2247238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2247238</a>] [<a href="https://doi.org/10.1212/wnl.40.12.1882" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2247238">Perry et al. (1990)</a> described 2 additional affected persons in this kindred. Neuropathologic studies showed severe neuronal loss and reactive gliosis in the substantia nigra. Neurochemical studies showed a marked depletion of dopamine in the substantia nigra, putamen, and caudate nucleus, as well as reduction in serotonin content in the substantia nigra. In both patients, glutamate contents were low in frontal cortex and thalamus, and GABA contents were low in thalamus and substantia nigra. In addition, phosphoethanolamine contents were reduced in all brain regions of both patients, especially in the substantia nigra. One patient with severe symptoms had low levels of homovanillic acid, 5-hydroxyindoleacetic acid, and GABA in his CSF repeatedly for 3 years before death at age 58. The second patient died at the age of 51 of an unrelated cause before developing symptoms of the familial disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2247238" 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>Between the times of the 2 reports by Perry et al. (<a href="#5" class="mim-tip-reference" title="Perry, T. L., Bratty, P. J. A., Hansen, S., Kennedy, J., Urquhart, N., Dolman, C. L. <strong>Hereditary mental depression and parkinsonism with taurine deficiency.</strong> Arch. Neurol. 32: 108-113, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1122173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1122173</a>] [<a href="https://doi.org/10.1001/archneur.1975.00490440058009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1122173">1975</a>, <a href="#6" class="mim-tip-reference" title="Perry, T. L., Wright, J. M., Berry, K., Hansen, S., Perry, T. L., Jr. <strong>Dominantly inherited apathy, central hypoventilation, and parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases.</strong> Neurology 40: 1882-1887, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2247238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2247238</a>] [<a href="https://doi.org/10.1212/wnl.40.12.1882" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2247238">1990</a>), 2 additional unrelated families affected with the same disorder were reported (<a href="#7" class="mim-tip-reference" title="Purdy, A., Hahn, A., Barnett, H. J. M., Bratty, P., Ahmad, D., Lloyd, K. G., McGeer, E. G., Perry, T. L. <strong>Familial fatal parkinsonism with alveolar hypoventilation and mental depression.</strong> Ann. Neurol. 6: 523-531, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/43704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">43704</a>] [<a href="https://doi.org/10.1002/ana.410060611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="43704">Purdy et al., 1979</a>; <a href="#8" class="mim-tip-reference" title="Roy, E. P., III, Riggs, J. E., Martin, J. D., Ringel, R. A., Gutmann, L. <strong>Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management.</strong> Neurology 38: 637-639, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3352925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3352925</a>] [<a href="https://doi.org/10.1212/wnl.38.4.637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3352925">Roy et al., 1988</a>). Brain content of taurine was normal in the patients reported by <a href="#7" class="mim-tip-reference" title="Purdy, A., Hahn, A., Barnett, H. J. M., Bratty, P., Ahmad, D., Lloyd, K. G., McGeer, E. G., Perry, T. L. <strong>Familial fatal parkinsonism with alveolar hypoventilation and mental depression.</strong> Ann. Neurol. 6: 523-531, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/43704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">43704</a>] [<a href="https://doi.org/10.1002/ana.410060611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="43704">Purdy et al. (1979)</a>. Both <a href="#7" class="mim-tip-reference" title="Purdy, A., Hahn, A., Barnett, H. J. M., Bratty, P., Ahmad, D., Lloyd, K. G., McGeer, E. G., Perry, T. L. <strong>Familial fatal parkinsonism with alveolar hypoventilation and mental depression.</strong> Ann. Neurol. 6: 523-531, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/43704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">43704</a>] [<a href="https://doi.org/10.1002/ana.410060611" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="43704">Purdy et al. (1979)</a> and <a href="#8" class="mim-tip-reference" title="Roy, E. P., III, Riggs, J. E., Martin, J. D., Ringel, R. A., Gutmann, L. <strong>Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management.</strong> Neurology 38: 637-639, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3352925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3352925</a>] [<a href="https://doi.org/10.1212/wnl.38.4.637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3352925">Roy et al. (1988)</a> emphasized alveolar hypoventilation as a feature. Apathy and progressive weight loss were also emphasized as early symptoms. Sudden death, presumably from failure of central respiratory control, was a characteristic feature. <a href="#8" class="mim-tip-reference" title="Roy, E. P., III, Riggs, J. E., Martin, J. D., Ringel, R. A., Gutmann, L. <strong>Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management.</strong> Neurology 38: 637-639, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3352925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3352925</a>] [<a href="https://doi.org/10.1212/wnl.38.4.637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3352925">Roy et al. (1988)</a> described a patient who after multiple episodes of respiratory arrest was 'successfully managed with aggressive pulmonary care, tracheostomy, and intermittent home mechanical ventilation, which, combined with carbidopa/levodopa, allowed for a functional lifestyle with improvement in apathy, mobility, and nutritional status.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1122173+43704+3352925+2247238" 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="Lechevalier, B., Schupp, C., Fallet-Bianco, C., Viader, F., Eustache, F., Chapon, F., Morin, P. <strong>Syndrome Parkinsonien familial avec athymhormie et hypoventilation.</strong> Rev. Neurol. 148: 39-46, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1604112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1604112</a>]" pmid="1604112">Lechevalier et al. (1992)</a> described 5 cases in 1 family. Death caused by central respiratory disorders occurred after 6 to 8 years of progressive course. Autopsies in 2 cases were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1604112" 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="#9" class="mim-tip-reference" title="Tsuboi, Y., Wszolek, Z. K., Kusuhara, T., Doh-ura, K., Yamada, T. <strong>Japanese family with parkinsonism, depression, weight loss, and central hypoventilation.</strong> Neurology 58: 1025-1030, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940687</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940687">Tsuboi et al. (2002)</a> reported a Japanese family in which 5 affected members presented in the third and fourth decades with parkinsonism and depression. Three affected members were studied in detail. Weight loss and central hypoventilation developed in the later stages, leading to death in at least 1 member. The disorder showed autosomal dominant inheritance. <a href="#9" class="mim-tip-reference" title="Tsuboi, Y., Wszolek, Z. K., Kusuhara, T., Doh-ura, K., Yamada, T. <strong>Japanese family with parkinsonism, depression, weight loss, and central hypoventilation.</strong> Neurology 58: 1025-1030, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940687</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940687">Tsuboi et al. (2002)</a> noted that hypoventilation is the most critical feature of the disorder and suggested that altered neurotransmitter levels may be causative. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Wider, C., Dachsel, J. C., Farrer, M. J., Dickson, D. W., Tsuboi, Y., Wszolek, Z. L. <strong>Elucidating the genetics and pathology of Perry syndrome.</strong> J. Neurol. Sci. 289: 149-154, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732908[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/j.jns.2009.08.044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732908">Wider et al. (2010)</a> reported 2 unrelated families of Japanese origin with Perry syndrome. Two affected individuals in 1 family presented at age 47 years with parkinsonism and respiratory symptoms; neither had depression or weight loss. In the second family, 2 sibs presented with resting tremor and weight loss, respectively. Both developed levodopa-responsive parkinsonism, weight loss, and hypoventilation. Neither developed depression or apathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732908" 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="Newsway, V., Fish, M., Rohrer, J. D., Majounie, E., Williams, N., Hack, M., Warren, J. D., Morris, H. R. <strong>Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.</strong> Mov. Disord. 25: 767-770, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20437543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20437543</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20437543[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/10.1002/mds.22950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20437543">Newsway et al. (2010)</a> reported a man with Perry syndrome who developed progressive symptoms in his mid-forties. In addition to parkinsonism, psychiatric disturbances, and weight loss, he also showed signs of frontotemporal dementia as well as slowing of vertical downgaze and midbrain atrophy, reminiscent of progressive supranuclear palsy. Genetic analysis identified a heterozygous mutation in the DCTN1 gene (G71R; <a href="/entry/601143#0006">601143.0006</a>). The findings expanded the phenotype associated with DCTN1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20437543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Caroppo, P., Le Ber, I., Clot, F., Rivaud-Pechoux, S., Camuzat, A., De Septenville, A., Boutoleau-Bretonniere, C., Mourlon, V., Sauvee, M., Lebouvier, T., Bonnet, A.-M., Levy, R., Vercelletto, M., Brice, A. <strong>DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.</strong> JAMA Neurol. 71: 208-215, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24343258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24343258</a>] [<a href="https://doi.org/10.1001/jamaneurol.2013.5100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24343258">Caroppo et al. (2014)</a> reported a large 3-generation French family in which 4 individuals had variable manifestations of an adult-onset neurodegenerative disorder associated with a heterozygous missense mutation in the DCTN1 gene (G71E; <a href="/entry/601143#0008">601143.0008</a>). The age at symptom onset ranged from 39 to 59 years, and the age of death from 43 to 64 years. The duration of disease was 4 to 5 years in all patients except 1 who survived for 14 years after onset. One patient presented with parkinsonism, 1 with gait imbalance, and 2 with depression or apathy. All eventually developed parkinsonism and frontal signs, leading to a diagnosis of behavioral variant of frontotemporal dementia in 2 patients. One patient developed oculomotor abnormalities consistent with progressive supranuclear palsy, and another had respiratory arrest, consistent with Perry syndrome. The features of 4 affected individuals from the previous generation were also reported. All had parkinsonism, and 1 also had psychiatric symptoms and respiratory failure, leading to a diagnosis of Perry syndrome. Another had oculomotor abnormalities, consistent with PSP. Overall, the clinical diagnoses were Parkinson disease in 4 patients, Perry syndrome in 1, progressive supranuclear palsy in 2, and frontotemporal dementia in 2. None of the patients had symptoms of amyotrophic lateral sclerosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24343258" 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>Neuropathologic Features</em></strong></p><p>
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By neuropathologic examination of 8 affected individuals, <a href="#10" class="mim-tip-reference" title="Wider, C., Dachsel, J. C., Farrer, M. J., Dickson, D. W., Tsuboi, Y., Wszolek, Z. L. <strong>Elucidating the genetics and pathology of Perry syndrome.</strong> J. Neurol. Sci. 289: 149-154, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732908[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/j.jns.2009.08.044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19732908">Wider et al. (2010)</a> demonstrated that Perry syndrome is a TDP43 (<a href="/entry/605078">605078</a>)-related proteinopathy. There was severe neuronal loss in the substantia nigra and locus ceruleus without Lewy bodies. Surviving neurons contained intranuclear and cytoplasmic TDP43-positive inclusions as well as dystrophic neurites, axonal spheroids, and glial cytoplasmic inclusions. Immunohistochemistry for MAPT (<a href="/entry/157140">157140</a>) and SNCA (<a href="/entry/163890">163890</a>) was negative. Most of the pathology in Perry syndrome showed pallidonigral predominance, which could explain the parkinsonism, with sparing of the cortex, hippocampus, and motor neurons, consistent with the lack of dementia and motor neuron disease in most patients. Putative loss of neurons in the brainstem may account for central hypoventilation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of Perry syndrome in the families reported by <a href="#2" class="mim-tip-reference" title="Farrer, M. J., Hulihan, M. M., Kachergus, J. M., Dachsel, J. C., Stoessl, A. J., Grantier, L. L., Calne, S., Calne, D. B., Lechevalier, B., Chapon, F., Tsuboi, Y., Yamada, T., and 10 others. <strong>DCTN1 mutations in Perry syndrome.</strong> Nature Genet. 41: 163-165, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136952</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19136952[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/10.1038/ng.293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19136952">Farrer et al. (2009)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 8 families with Perry syndrome, <a href="#2" class="mim-tip-reference" title="Farrer, M. J., Hulihan, M. M., Kachergus, J. M., Dachsel, J. C., Stoessl, A. J., Grantier, L. L., Calne, S., Calne, D. B., Lechevalier, B., Chapon, F., Tsuboi, Y., Yamada, T., and 10 others. <strong>DCTN1 mutations in Perry syndrome.</strong> Nature Genet. 41: 163-165, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136952</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19136952[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/10.1038/ng.293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19136952">Farrer et al. (2009)</a> identified 5 different heterozygous mutations in the DCTN1 gene (see, e.g., <a href="/entry/601143#0006">601143.0006</a>-<a href="/entry/601143#0008">601143.0008</a>). In vitro functional expression studies indicated that the mutations resulted in decreased microtubule binding and intracytoplasmic inclusions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a 3-generation French family with Perry syndrome, <a href="#1" class="mim-tip-reference" title="Caroppo, P., Le Ber, I., Clot, F., Rivaud-Pechoux, S., Camuzat, A., De Septenville, A., Boutoleau-Bretonniere, C., Mourlon, V., Sauvee, M., Lebouvier, T., Bonnet, A.-M., Levy, R., Vercelletto, M., Brice, A. <strong>DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.</strong> JAMA Neurol. 71: 208-215, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24343258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24343258</a>] [<a href="https://doi.org/10.1001/jamaneurol.2013.5100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24343258">Caroppo et al. (2014)</a> identified one of same missense mutations in the DCTN1 gene (G171E; <a href="/entry/601143#0008">601143.0008</a>) found by <a href="#2" class="mim-tip-reference" title="Farrer, M. J., Hulihan, M. M., Kachergus, J. M., Dachsel, J. C., Stoessl, A. J., Grantier, L. L., Calne, S., Calne, D. B., Lechevalier, B., Chapon, F., Tsuboi, Y., Yamada, T., and 10 others. <strong>DCTN1 mutations in Perry syndrome.</strong> Nature Genet. 41: 163-165, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136952</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19136952[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/10.1038/ng.293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19136952">Farrer et al. (2009)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24343258+19136952" 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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Caroppo, P., Le Ber, I., Clot, F., Rivaud-Pechoux, S., Camuzat, A., De Septenville, A., Boutoleau-Bretonniere, C., Mourlon, V., Sauvee, M., Lebouvier, T., Bonnet, A.-M., Levy, R., Vercelletto, M., Brice, A.
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<strong>DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.</strong>
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JAMA Neurol. 71: 208-215, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24343258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24343258</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24343258" 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/jamaneurol.2013.5100" target="_blank">Full Text</a>]
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Farrer, M. J., Hulihan, M. M., Kachergus, J. M., Dachsel, J. C., Stoessl, A. J., Grantier, L. L., Calne, S., Calne, D. B., Lechevalier, B., Chapon, F., Tsuboi, Y., Yamada, T., and 10 others.
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<strong>DCTN1 mutations in Perry syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136952</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19136952[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136952" 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/ng.293" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20437543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20437543</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20437543[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20437543" 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/mds.22950" target="_blank">Full Text</a>]
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Perry, T. L., Bratty, P. J. A., Hansen, S., Kennedy, J., Urquhart, N., Dolman, C. L.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1122173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1122173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1122173" 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.1975.00490440058009" target="_blank">Full Text</a>]
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Perry, T. L., Wright, J. M., Berry, K., Hansen, S., Perry, T. L., Jr.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2247238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2247238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2247238" 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.410060611" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3352925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3352925</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3352925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Japanese family with parkinsonism, depression, weight loss, and central hypoventilation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Wider, C., Dachsel, J. C., Farrer, M. J., Dickson, D. W., Tsuboi, Y., Wszolek, Z. L.
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<strong>Elucidating the genetics and pathology of Perry syndrome.</strong>
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J. Neurol. Sci. 289: 149-154, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19732908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19732908</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19732908[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19732908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 8/7/2014
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Cassandra L. Kniffin - updated : 2/10/2009<br>Cassandra L. Kniffin - updated : 6/3/2002
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alopez : 10/18/2023<br>carol : 05/06/2021<br>carol : 08/18/2020<br>carol : 08/08/2014<br>mcolton : 8/7/2014<br>mcolton : 8/7/2014<br>ckniffin : 8/7/2014<br>ckniffin : 12/9/2009<br>wwang : 2/24/2009<br>ckniffin : 2/10/2009<br>alopez : 3/17/2004<br>carol : 6/3/2002<br>ckniffin : 6/3/2002<br>mimadm : 1/14/1995<br>carol : 6/4/1992<br>supermim : 3/16/1992<br>carol : 2/21/1991<br>carol : 1/23/1991
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<span class="mim-font">
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<strong>#</strong> 168605
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PERRY SYNDROME
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<em>Alternative titles; symbols</em>
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PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION
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<strong>SNOMEDCT:</strong> 699184009;
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<strong>ORPHA:</strong> 178509;
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<strong>DO:</strong> 0060486;
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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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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2p13.1
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<span class="mim-font">
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Perry syndrome
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<span class="mim-font">
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168605
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Autosomal dominant
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<span class="mim-font">
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3
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DCTN1
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<span class="mim-font">
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601143
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<p>A number sign (#) is used with this entry because of evidence that Perry syndrome is caused by heterozygous mutation in the DCTN1 gene (601143) on chromosome 2p13.</p>
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<strong>Description</strong>
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<p>Perry syndrome is an autosomal dominant neurodegenerative disorder classically characterized by adult-onset parkinsonism and depression, followed by weight loss and respiratory hypoventilation (Perry et al., 1975). The phenotype has subsequently been expanded to include features that overlap with other neurodegenerative conditions, including frontotemporal dementia (see, e.g., 600274) and progressive supranuclear palsy (PSP; 601104). There is intrafamilial variation in the manifestations of the disorder (summary by Caroppo et al., 2014; review by Wider et al., 2010). </p><p>Mutation in the DCTN1 gene can also cause autosomal dominant distal hereditary motor neuronopathy-14 (HMND14; 607641) and confer increased susceptibility to amyotrophic lateral sclerosis (ALS; see 105400).</p>
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<strong>Clinical Features</strong>
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<p>Perry et al. (1975) described an unusual neuropsychiatric disorder inherited in an autosomal dominant fashion through 3 generations of a family. Symptoms began late in the fifth decade in 6 affected persons and death occurred after 4 to 6 years. The earliest and most prominent symptom was mental depression not responsive to antidepressant drugs or electroconvulsive therapy. Sleep disturbances, exhaustion and marked weight loss were features. Parkinsonism developed later, and respiratory failure occurred terminally. Perry et al. (1975) found greatly diminished taurine in plasma and cerebrospinal fluid, and at autopsy all regions of the brain showed markedly reduced taurine content. Taurine is a putative inhibitory synaptic transmitter. </p><p>Perry et al. (1990) described 2 additional affected persons in this kindred. Neuropathologic studies showed severe neuronal loss and reactive gliosis in the substantia nigra. Neurochemical studies showed a marked depletion of dopamine in the substantia nigra, putamen, and caudate nucleus, as well as reduction in serotonin content in the substantia nigra. In both patients, glutamate contents were low in frontal cortex and thalamus, and GABA contents were low in thalamus and substantia nigra. In addition, phosphoethanolamine contents were reduced in all brain regions of both patients, especially in the substantia nigra. One patient with severe symptoms had low levels of homovanillic acid, 5-hydroxyindoleacetic acid, and GABA in his CSF repeatedly for 3 years before death at age 58. The second patient died at the age of 51 of an unrelated cause before developing symptoms of the familial disorder. </p><p>Between the times of the 2 reports by Perry et al. (1975, 1990), 2 additional unrelated families affected with the same disorder were reported (Purdy et al., 1979; Roy et al., 1988). Brain content of taurine was normal in the patients reported by Purdy et al. (1979). Both Purdy et al. (1979) and Roy et al. (1988) emphasized alveolar hypoventilation as a feature. Apathy and progressive weight loss were also emphasized as early symptoms. Sudden death, presumably from failure of central respiratory control, was a characteristic feature. Roy et al. (1988) described a patient who after multiple episodes of respiratory arrest was 'successfully managed with aggressive pulmonary care, tracheostomy, and intermittent home mechanical ventilation, which, combined with carbidopa/levodopa, allowed for a functional lifestyle with improvement in apathy, mobility, and nutritional status.' </p><p>Lechevalier et al. (1992) described 5 cases in 1 family. Death caused by central respiratory disorders occurred after 6 to 8 years of progressive course. Autopsies in 2 cases were reported. </p><p>Tsuboi et al. (2002) reported a Japanese family in which 5 affected members presented in the third and fourth decades with parkinsonism and depression. Three affected members were studied in detail. Weight loss and central hypoventilation developed in the later stages, leading to death in at least 1 member. The disorder showed autosomal dominant inheritance. Tsuboi et al. (2002) noted that hypoventilation is the most critical feature of the disorder and suggested that altered neurotransmitter levels may be causative. </p><p>Wider et al. (2010) reported 2 unrelated families of Japanese origin with Perry syndrome. Two affected individuals in 1 family presented at age 47 years with parkinsonism and respiratory symptoms; neither had depression or weight loss. In the second family, 2 sibs presented with resting tremor and weight loss, respectively. Both developed levodopa-responsive parkinsonism, weight loss, and hypoventilation. Neither developed depression or apathy. </p><p>Newsway et al. (2010) reported a man with Perry syndrome who developed progressive symptoms in his mid-forties. In addition to parkinsonism, psychiatric disturbances, and weight loss, he also showed signs of frontotemporal dementia as well as slowing of vertical downgaze and midbrain atrophy, reminiscent of progressive supranuclear palsy. Genetic analysis identified a heterozygous mutation in the DCTN1 gene (G71R; 601143.0006). The findings expanded the phenotype associated with DCTN1 mutations. </p><p>Caroppo et al. (2014) reported a large 3-generation French family in which 4 individuals had variable manifestations of an adult-onset neurodegenerative disorder associated with a heterozygous missense mutation in the DCTN1 gene (G71E; 601143.0008). The age at symptom onset ranged from 39 to 59 years, and the age of death from 43 to 64 years. The duration of disease was 4 to 5 years in all patients except 1 who survived for 14 years after onset. One patient presented with parkinsonism, 1 with gait imbalance, and 2 with depression or apathy. All eventually developed parkinsonism and frontal signs, leading to a diagnosis of behavioral variant of frontotemporal dementia in 2 patients. One patient developed oculomotor abnormalities consistent with progressive supranuclear palsy, and another had respiratory arrest, consistent with Perry syndrome. The features of 4 affected individuals from the previous generation were also reported. All had parkinsonism, and 1 also had psychiatric symptoms and respiratory failure, leading to a diagnosis of Perry syndrome. Another had oculomotor abnormalities, consistent with PSP. Overall, the clinical diagnoses were Parkinson disease in 4 patients, Perry syndrome in 1, progressive supranuclear palsy in 2, and frontotemporal dementia in 2. None of the patients had symptoms of amyotrophic lateral sclerosis. </p><p><strong><em>Neuropathologic Features</em></strong></p><p>
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By neuropathologic examination of 8 affected individuals, Wider et al. (2010) demonstrated that Perry syndrome is a TDP43 (605078)-related proteinopathy. There was severe neuronal loss in the substantia nigra and locus ceruleus without Lewy bodies. Surviving neurons contained intranuclear and cytoplasmic TDP43-positive inclusions as well as dystrophic neurites, axonal spheroids, and glial cytoplasmic inclusions. Immunohistochemistry for MAPT (157140) and SNCA (163890) was negative. Most of the pathology in Perry syndrome showed pallidonigral predominance, which could explain the parkinsonism, with sparing of the cortex, hippocampus, and motor neurons, consistent with the lack of dementia and motor neuron disease in most patients. Putative loss of neurons in the brainstem may account for central hypoventilation. </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>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of Perry syndrome in the families reported by Farrer et al. (2009) was consistent with autosomal dominant inheritance. </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>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 8 families with Perry syndrome, Farrer et al. (2009) identified 5 different heterozygous mutations in the DCTN1 gene (see, e.g., 601143.0006-601143.0008). In vitro functional expression studies indicated that the mutations resulted in decreased microtubule binding and intracytoplasmic inclusions. </p><p>In affected members of a 3-generation French family with Perry syndrome, Caroppo et al. (2014) identified one of same missense mutations in the DCTN1 gene (G171E; 601143.0008) found by Farrer et al. (2009). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<p class="mim-text-font">
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Caroppo, P., Le Ber, I., Clot, F., Rivaud-Pechoux, S., Camuzat, A., De Septenville, A., Boutoleau-Bretonniere, C., Mourlon, V., Sauvee, M., Lebouvier, T., Bonnet, A.-M., Levy, R., Vercelletto, M., Brice, A.
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<strong>DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.</strong>
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JAMA Neurol. 71: 208-215, 2014.
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[PubMed: 24343258]
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[Full Text: https://doi.org/10.1001/jamaneurol.2013.5100]
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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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Farrer, M. J., Hulihan, M. M., Kachergus, J. M., Dachsel, J. C., Stoessl, A. J., Grantier, L. L., Calne, S., Calne, D. B., Lechevalier, B., Chapon, F., Tsuboi, Y., Yamada, T., and 10 others.
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<strong>DCTN1 mutations in Perry syndrome.</strong>
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Nature Genet. 41: 163-165, 2009.
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[PubMed: 19136952]
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[Full Text: https://doi.org/10.1038/ng.293]
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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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Lechevalier, B., Schupp, C., Fallet-Bianco, C., Viader, F., Eustache, F., Chapon, F., Morin, P.
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<strong>Syndrome Parkinsonien familial avec athymhormie et hypoventilation.</strong>
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Rev. Neurol. 148: 39-46, 1992.
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[PubMed: 1604112]
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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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Newsway, V., Fish, M., Rohrer, J. D., Majounie, E., Williams, N., Hack, M., Warren, J. D., Morris, H. R.
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<strong>Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.</strong>
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Mov. Disord. 25: 767-770, 2010.
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[PubMed: 20437543]
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[Full Text: https://doi.org/10.1002/mds.22950]
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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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Perry, T. L., Bratty, P. J. A., Hansen, S., Kennedy, J., Urquhart, N., Dolman, C. L.
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<strong>Hereditary mental depression and parkinsonism with taurine deficiency.</strong>
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Arch. Neurol. 32: 108-113, 1975.
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[PubMed: 1122173]
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[Full Text: https://doi.org/10.1001/archneur.1975.00490440058009]
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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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Perry, T. L., Wright, J. M., Berry, K., Hansen, S., Perry, T. L., Jr.
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<strong>Dominantly inherited apathy, central hypoventilation, and parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases.</strong>
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Neurology 40: 1882-1887, 1990.
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[PubMed: 2247238]
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[Full Text: https://doi.org/10.1212/wnl.40.12.1882]
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</li>
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<li>
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<p class="mim-text-font">
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Purdy, A., Hahn, A., Barnett, H. J. M., Bratty, P., Ahmad, D., Lloyd, K. G., McGeer, E. G., Perry, T. L.
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<strong>Familial fatal parkinsonism with alveolar hypoventilation and mental depression.</strong>
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Ann. Neurol. 6: 523-531, 1979.
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[PubMed: 43704]
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[Full Text: https://doi.org/10.1002/ana.410060611]
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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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Roy, E. P., III, Riggs, J. E., Martin, J. D., Ringel, R. A., Gutmann, L.
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<strong>Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management.</strong>
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Neurology 38: 637-639, 1988.
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[PubMed: 3352925]
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[Full Text: https://doi.org/10.1212/wnl.38.4.637]
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</li>
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<li>
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<p class="mim-text-font">
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Tsuboi, Y., Wszolek, Z. K., Kusuhara, T., Doh-ura, K., Yamada, T.
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<strong>Japanese family with parkinsonism, depression, weight loss, and central hypoventilation.</strong>
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Neurology 58: 1025-1030, 2002.
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[PubMed: 11940687]
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[Full Text: https://doi.org/10.1212/wnl.58.7.1025]
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</li>
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<li>
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<p class="mim-text-font">
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Wider, C., Dachsel, J. C., Farrer, M. J., Dickson, D. W., Tsuboi, Y., Wszolek, Z. L.
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<strong>Elucidating the genetics and pathology of Perry syndrome.</strong>
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J. Neurol. Sci. 289: 149-154, 2010.
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[PubMed: 19732908]
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[Full Text: https://doi.org/10.1016/j.jns.2009.08.044]
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/7/2014<br>Cassandra L. Kniffin - updated : 2/10/2009<br>Cassandra L. Kniffin - updated : 6/3/2002
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</span>
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<div>
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<br />
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