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Entry
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- #601104 - SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
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- OMIM
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<p>
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<span class="h4">#601104</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/601104"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS601104"> <strong>Phenotypic Series</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="#pathogenesis">Pathogenesis</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="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=SUPRANUCLEAR PALSY, PROGRESSIVE" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19331&Typ=Pat" title="Classic progressive supranuclear palsy syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Classic progressive supran… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=846&Typ=Pat" title="Progressive supranuclear palsy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Progressive supranuclear p… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1505/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9169" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601104[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=240071" title="Classic progressive supranuclear palsy syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Classic progressive supran…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=683" title="Progressive supranuclear palsy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Progressive supranuclear p…</a></div>
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</div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:678" 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/601104" 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:678" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:601104" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 192976002<br />
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<strong>ICD10CM:</strong> G23.1<br />
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<strong>ORPHA:</strong> 240071, 683<br />
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<strong>DO:</strong> 678<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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601104
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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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SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
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<h4>
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<span class="mim-font">
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PSP<br />
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STEELE-RICHARDSON-OLSZEWSKI SYNDROME
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</span>
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</h4>
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<div>
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<br />
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/663?start=-3&limit=10&highlight=663">
|
|
17q21.31
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Supranuclear palsy, progressive
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601104"> 601104 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MAPT
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/157140"> 157140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
|
|
|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/601104" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS601104" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601104" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601104" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Blurred vision <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246636008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246636008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111516008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111516008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344232&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344232</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000622</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000622</a>]</span><br /> -
|
|
Diplopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24982008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24982008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0012569&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012569</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000651</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000651</a>]</span><br /> -
|
|
Photophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br /> -
|
|
Eyelid apraxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/423142006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">423142006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1142448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1142448</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000658</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000658" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000658</a>]</span><br /> -
|
|
Supranuclear gaze palsy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/420675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">420675003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1720037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1720037</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000605</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000605</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Bradykinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399317006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399317006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span><br /> -
|
|
Akinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33994004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33994004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085623</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002304</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002304</a>]</span><br /> -
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Rigidity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700109</a>, <a href="https://bioportal.bioontology.org/search?q=C0026837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span><br /> -
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Axial dystonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002530" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002530</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002530" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002530</a>]</span><br /> -
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Poor mobility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/160693001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">160693001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0425258&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0425258</a>]</span><br /> -
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Gait imbalance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836150</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002141</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002141</a>]</span><br /> -
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Falls <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161898004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161898004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/217082002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">217082002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1912002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1912002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/W19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">W19</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/E888.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">E888.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/E880-E888.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">E880-E888.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085639</a>, <a href="https://bioportal.bioontology.org/search?q=C0000921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000921</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002527" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002527</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002527" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002527</a>]</span><br /> -
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Supranuclear gaze palsy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/420675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">420675003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1720037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1720037</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000605</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000605</a>]</span><br /> -
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Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
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Retrocollis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70070008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70070008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M43.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M43.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/723.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">723.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040485</a>, <a href="https://bioportal.bioontology.org/search?q=C3887667&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887667</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000473" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000473</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002544" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002544</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002544" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002544</a>]</span><br /> -
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Tremor (30%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
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Limb dystonia (18%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002451" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002451</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002451" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002451</a>]</span><br /> -
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Mutism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88052002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88052002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002300</a>]</span><br /> -
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Frontolimbic dementia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836151&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836151</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002439" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002439</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002439" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002439</a>]</span><br /> -
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Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836152&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836152</a>]</span><br /> -
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Tau-immunoreactive inclusions in neurons and astrocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832763</a>]</span><br /> -
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Tau inclusions are 'flame-shaped' or 'tuft-like' <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832764</a>]</span><br /> -
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Granulovacuolar degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90506004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90506004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333454</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002528</a>]</span><br /> -
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Gliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/359580009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">359580009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81415000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81415000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887640</a>, <a href="https://bioportal.bioontology.org/search?q=C0017639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002446" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002446</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002171</a>]</span><br /> -
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Neurofibrillary tangles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85775002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85775002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085400&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085400</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002185</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Behavioral Psychiatric Manifestations </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Forgetfulness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55533009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55533009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542476</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002354" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002354</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002354" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002354</a>]</span><br /> -
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Irritability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55929007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55929007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022107&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022107</a>, <a href="https://bioportal.bioontology.org/search?q=C2700617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2700617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</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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Frontal release signs (45%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833297&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833297</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000743</a>]</span><br />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant with incomplete penetrance<br /> -
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Average age at onset 66 years although earlier onset may occur<br /> -
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Median survival 5.7 years<br /> -
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May show good response to levodopa<br /> -
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Genetic heterogeneity (see PSNP2 <a href="/entry/609454">609454</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
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Phenotypic overlap with frontotemporal dementia (<a href="/entry/600274">600274</a>)<br /> -
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Associated with the tau (<a href="/entry/157140">157140</a>) H1 haplotype<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> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the microtubule-associated protein tau gene (MAPT, <a href="/entry/157140#0019">157140.0019</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Supranuclear palsy, progressive
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- <a href="/phenotypicSeries/PS601104">PS601104</a>
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- 3 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1507?start=-3&limit=10&highlight=1507"> 1q31.1 </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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<a href="/entry/609454"> Supranuclear palsy, progressive, 2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609454"> 609454 </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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<a href="/entry/609454"> PSNP2 </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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<a href="/entry/609454"> 609454 </a>
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</span>
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</td>
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</tr>
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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/11/314?start=-3&limit=10&highlight=314"> 11p12-p11 </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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<a href="/entry/610898"> Supranuclear palsy, progressive, 3 </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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</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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/610898"> 610898 </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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<a href="/entry/610898"> PSNP3 </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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<a href="/entry/610898"> 610898 </a>
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</span>
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</td>
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</tr>
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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/17/663?start=-3&limit=10&highlight=663"> 17q21.31 </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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<a href="/entry/601104"> Supranuclear palsy, progressive </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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|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/601104"> 601104 </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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<a href="/entry/157140"> MAPT </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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<a href="/entry/157140"> 157140 </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="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that progressive supranuclear palsy-1 (PSNP1) is caused by heterozygous mutation in the gene encoding microtubule-associated protein tau (MAPT; <a href="/entry/157140">157140</a>) on chromosome 17q21.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Progressive supranuclear palsy (PSNP, PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level (<a href="#1" class="mim-tip-reference" title="Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., Hardy, J., Lynch, T., Bigio, E., Hutton, M. <strong>Association of an extended haplotype in the tau gene with progressive supranuclear palsy.</strong> Hum. Molec. Genet. 8: 711-715, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072441</a>] [<a href="https://doi.org/10.1093/hmg/8.4.711" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072441">Baker et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10072441" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Kertesz, A. <strong>Pick complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy.</strong> Neurologist 9: 311-317, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14629785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14629785</a>] [<a href="https://doi.org/10.1097/01.nrl.0000094943.84390.cf" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14629785">Kertesz (2003)</a> suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; <a href="/entry/600274">600274</a>), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (<a href="/entry/172700">172700</a>) should be restricted to the pathologic finding of Pick bodies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14629785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Progressive Supranuclear Palsy</em></strong></p><p>
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Other loci for PSNP have been mapped to chromosome 1q31 (PSNP2; <a href="/entry/609454">609454</a>) and 11p12-p11 (PSNP3; <a href="/entry/610898">610898</a>).</p><p>See also Parkinson-dementia syndrome and atypical progressive supranuclear palsy (<a href="/entry/260540">260540</a>).</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#27" class="mim-tip-reference" title="Rojo, A., Pernaute, R. S., Fontan, A., Ruiz, P. G., Honnorat, J., Lynch, T., Chin, S., Gonzalo, I., Rabano, A., Martinez, A., Daniel, S., Pramstaller, P., Morris, H., Wood, N., Lees, A., Tabernero, C., Nyggard, T., Jackson, A. C., Hanson, A., de Yebenes, J. G. <strong>Clinical genetics of familial progressive supranuclear palsy.</strong> Brain 122: 1233-1245, 1999. Note: Erratum: Brain 123: 419 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10388790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10388790</a>] [<a href="https://doi.org/10.1093/brain/122.7.1233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10388790">Rojo et al. (1999)</a> reported 12 pedigrees of familial progressive supranuclear palsy, confirmed by pathology in 4 probands. Pathologic diagnosis was confirmed by internationally agreed criteria. The spectrum of the clinical phenotypes in these families was variable, including 34 typical cases of PSP (12 probands plus 22 secondary cases), 3 patients with postural tremor, 3 with dementia, 1 with parkinsonism, 2 with tremor, dystonia, gaze palsy, and tics, and 1 with gait disturbance. <a href="#28" class="mim-tip-reference" title="Ros, R., Thobois, S., Streichenberger, N., Kopp, N., Sanchez, M. P., Perez, M., Hoenicka, J., Avila, J., Honnorat, J., de Yebenes, J. G. <strong>A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.</strong> Arch. Neurol. 62: 1444-1450, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16157753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16157753</a>] [<a href="https://doi.org/10.1001/archneur.62.9.1444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16157753">Ros et al. (2005)</a> provided an update on 1 of the families reported by <a href="#27" class="mim-tip-reference" title="Rojo, A., Pernaute, R. S., Fontan, A., Ruiz, P. G., Honnorat, J., Lynch, T., Chin, S., Gonzalo, I., Rabano, A., Martinez, A., Daniel, S., Pramstaller, P., Morris, H., Wood, N., Lees, A., Tabernero, C., Nyggard, T., Jackson, A. C., Hanson, A., de Yebenes, J. G. <strong>Clinical genetics of familial progressive supranuclear palsy.</strong> Brain 122: 1233-1245, 1999. Note: Erratum: Brain 123: 419 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10388790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10388790</a>] [<a href="https://doi.org/10.1093/brain/122.7.1233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10388790">Rojo et al. (1999)</a>. Three family members were affected. At 37 years of age, the proband developed an akinetic-rigid syndrome, gait disturbance, frequent falls, micrographia, dysarthria, eyelid apraxia, abolition of upgaze, and hyperreflexia with unilateral extensor plantar response. PET scan showed reduced striatal fluorodopa uptake. The patient showed disease progression, with axial dystonia, mutism, complete vertical gaze palsy, and dysphagia, leading to death at age 45 years. Neuropathologic examination showed atrophy of the mesencephalon, pons, striatum, and subthalamic nuclei, and depigmentation of the substantia nigra. There was tau protein accumulation in neurons and glia, primarily in the mesencephalon. Protein analysis of brain tissue detected hyperphosphorylated tau protein and overexpression of tau isoforms with 4 microtubule-binding repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10388790+16157753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Nath, U., Ben-Shlomo, Y., Thomson, R. G., Lees, A. J., Burn, D. J. <strong>Clinical features and natural history of progressive supranuclear palsy: a clinical cohort study.</strong> Neurology 60: 910-916, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12654952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12654952</a>] [<a href="https://doi.org/10.1212/01.wnl.0000052991.70149.68" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12654952">Nath et al. (2003)</a> provided a detailed review of the clinical features of 187 patients with PSP in the United Kingdom. The most common symptoms included bradykinesia, falls, cognitive impairment, bulbar or language problems, and visual disturbances, such as diplopia. Other variable features included tremor, retrocollis, limb dystonia, and favorable response to levodopa. Average age at onset was 66 years, and the mean survival was 5 to 6 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12654952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Tuite, P. J., Clark, H. B., Bergeron, C., Bower, M., St George-Hyslop, P., Mateva, V., Anderson, J., Knopman, D. S. <strong>Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy.</strong> Arch. Neurol. 62: 1453-1457, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16157754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16157754</a>] [<a href="https://doi.org/10.1001/archneur.62.9.1453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16157754">Tuite et al. (2005)</a> reported a family in which several members had clinical features consistent with PSP and others had features consistent with corticobasal degeneration. Neuropathologic examination of 2 affected sibs showed features of PSP in 1 sib and features of CBD in the other. Specifically, PSP features included tufted astrocytes, whereas CBD features included ballooned neurons and astrocytic plaques. Both patients had severe neuronal loss in the substantia nigra. Genetic studies of 4 affected family members demonstrated the H1/H1 tau haplotype, but no mutations in the MAPT gene were identified. There was a history of remote consanguinity, and <a href="#30" class="mim-tip-reference" title="Tuite, P. J., Clark, H. B., Bergeron, C., Bower, M., St George-Hyslop, P., Mateva, V., Anderson, J., Knopman, D. S. <strong>Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy.</strong> Arch. Neurol. 62: 1453-1457, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16157754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16157754</a>] [<a href="https://doi.org/10.1001/archneur.62.9.1453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16157754">Tuite et al. (2005)</a> suggested a unifying genetic etiology in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16157754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Donker Kaat, L., Boon, A. J. W., Azmani, A., Kamphorst, W., Breteler, M. M. B., Anar, B., Heutink, P., van Swieten, J. C. <strong>Familial aggregation of parkinsonism in progressive supranuclear palsy.</strong> Neurology 73: 98-105, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19458322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19458322</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181a92bcc" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19458322">Donker Kaat et al. (2009)</a> reported 176 patients who fulfilled the diagnostic criteria for PSP, including 65 possible, 91 probable, and 20 definite. The mean age at PSP onset was 66.5 years. Presenting symptoms included gait disorder with falls (65%), behavioral changes (21%), bradykinesia (20%), cognitive decline (16%), stiffness (14%), speech problems (9%), visual complaints (6%), and tremor (4%). Tremor at disease onset occurred significantly more frequently in patients with PSP who had a positive family history compared to patients who did not (9% vs 1%, p = 0.02). Neuropathologic examination of 20 patients were consistent with the diagnosis. Detailed results of 5 patients showed mild frontal atrophy and depigmentation of the substantia nigra and locus ceruleus. There was severe neuronal loss and gliosis in the pallidum, subthalamic nucleus, and substantia nigra. Immunohistochemistry with the MAPT AT8 antibody (which stains 4-repeat tau) showed neurofibrillary tangles, tufted astrocytes, and coiled bodies with threads in the striatum and caudate; a variable number of these were found in the subthalamic nucleus and thalamus. The neocortex showed a few pre-tangles and tufted astrocytes in the frontal, temporal, and parietal cortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19458322" 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>Neuroradiologic Studies</em></strong></p><p>
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<a href="#21" class="mim-tip-reference" title="Piccini, P., de Yebenez, J., Lees, A. J., Ceravolo, R., Turjanski, N., Pramstaller, P., Brooks, D. J. <strong>Familial progressive supranuclear palsy: detection of subclinical cases using (18)F-dopa and (18)fluorodeoxyglucose positron emission tomography.</strong> Arch. Neurol. 58: 1846-1851, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11708994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11708994</a>] [<a href="https://doi.org/10.1001/archneur.58.11.1846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11708994">Piccini et al. (2001)</a> studied regional cerebral dopaminergic function and glucose metabolism in members of 2 large kindreds with familial PSP in an effort to identify subclinical cases. They studied 3 clinically affected PSP patients who showed significant reduction in caudate and putamen uptake of (18)F-dopa in positron emission tomography (PET) studies, along with a significant reduction in striatal, lateral, and medial premotor area and dorsal prefrontal cortex glucose metabolism. In 4 of 15 asymptomatic relatives, caudate and putamen (18)F-dopa uptake was 2.5 SDs lower than the normal mean. These 4 subjects and a fifth asymptomatic relative with normal (18)F-dopa uptake showed a significant reduction of cortical and striatal glucose metabolism in a pattern similar to that of their affected relatives. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11708994" 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>To calculate the rate of brain atrophy in 6 patients with PSP, <a href="#14" class="mim-tip-reference" title="Josephs, K. A., Whitwell, J. L., Boeve, B. F., Shiung, M. M., Gunter, J. L., Parisi, J. E., Dickson, D. W., Jack, C. R. <strong>Rates of cerebral atrophy in autopsy-confirmed progressive supranuclear palsy.</strong> Ann. Neurol. 59: 200-203, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16278856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16278856</a>] [<a href="https://doi.org/10.1002/ana.20707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16278856">Josephs et al. (2006)</a> used serial MRI scans and a technique called the 'boundary shift integral,' which calculates the integral change in the brain/CSF fluid boundary over the interior and exterior surfaces of the brain. The mean interval between baseline and final MRI scan was 3.1 years. Patients had a rate of cerebral atrophy and ventricular expansion of 1.3% and 7% per year, respectively, compared to 0.4% and 1.8%, respectively, in control individuals. <a href="#14" class="mim-tip-reference" title="Josephs, K. A., Whitwell, J. L., Boeve, B. F., Shiung, M. M., Gunter, J. L., Parisi, J. E., Dickson, D. W., Jack, C. R. <strong>Rates of cerebral atrophy in autopsy-confirmed progressive supranuclear palsy.</strong> Ann. Neurol. 59: 200-203, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16278856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16278856</a>] [<a href="https://doi.org/10.1002/ana.20707" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16278856">Josephs et al. (2006)</a> suggested that these benchmark rates and the boundary shift integral technique could be used to monitor disease progression and response to therapy in PSP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16278856" 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>Clinical Variability</em></strong></p><p>
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<a href="#19" class="mim-tip-reference" title="Nicholl, D. J., Greenstone, M. A., Clarke, C. E., Rizzu, P., Crooks, D., Crowe, A., Trojanowski, J. Q., Lee, V. M.-Y., Heutink, P. <strong>An English kindred with a novel recessive tauopathy and respiratory failure.</strong> Ann. Neurol. 54: 682-686, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14595660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14595660</a>] [<a href="https://doi.org/10.1002/ana.10747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14595660">Nicholl et al. (2003)</a> described a form of PSP characterized by fatal respiratory hypoventilation in 2 sibs from a consanguineous marriage. The authors called the disorder 'tauopathy and respiratory failure.' The 29-year-old pregnant sister developed dyspnea with stridor, and later had a generalized seizure that left her unconscious. Despite therapy, she died after 9 days. Her 30-year-old brother developed cough syncope, dyspnea, and central apnea, which progressed over 40 months, leading to death at age 34 years. During the illness, he showed slow smooth pursuit and impaired saccades, mild rigidity and bradykinesia, and myoclonic jerks. Neuropathologic examination showed widespread neuronal eosinophilia and pyknosis with gliosis in multiple brain regions, consistent with hypoxic brain damage. There was pervasive tau pathology in neuronal perikarya, neurites, and threads in the gray matter of the hippocampus, thalamus, and pons, but not in the cerebral cortex. Functional studies indicated that the mutated protein showed reduced binding to microtubules as well as increased fibrillization and aggregation. Both sibs carried the H1/H1 haplotype associated with PSP. <a href="#19" class="mim-tip-reference" title="Nicholl, D. J., Greenstone, M. A., Clarke, C. E., Rizzu, P., Crooks, D., Crowe, A., Trojanowski, J. Q., Lee, V. M.-Y., Heutink, P. <strong>An English kindred with a novel recessive tauopathy and respiratory failure.</strong> Ann. Neurol. 54: 682-686, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14595660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14595660</a>] [<a href="https://doi.org/10.1002/ana.10747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14595660">Nicholl et al. (2003)</a> commented on the unusual apparent autosomal recessive inheritance of this tauopathy. In a review of the role of tau in neurodegenerative diseases, <a href="#25" class="mim-tip-reference" title="Quadros, A., Weeks, O. I., Ait-Ghezala, G. <strong>Role of tau in Alzheimer's dementia and other neurodegenerative diseases.</strong> J. Appl. Biomed. 5: 1-12, 2007."None>Quadros et al. (2007)</a> classified the disorder in the sibs reported by <a href="#19" class="mim-tip-reference" title="Nicholl, D. J., Greenstone, M. A., Clarke, C. E., Rizzu, P., Crooks, D., Crowe, A., Trojanowski, J. Q., Lee, V. M.-Y., Heutink, P. <strong>An English kindred with a novel recessive tauopathy and respiratory failure.</strong> Ann. Neurol. 54: 682-686, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14595660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14595660</a>] [<a href="https://doi.org/10.1002/ana.10747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14595660">Nicholl et al. (2003)</a> as PSP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14595660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#31" class="mim-tip-reference" title="van Leeuwen, F. W., van Tijn, P., Sonnemans, M. A. F., Hobo, B., Mann, D. M. A., Van Broeckhoven, C., Kumar-Singh, S., Cras, P., Leuba, G., Savioz, A., Maat-Schieman, M. L. C., Yamaguchi, H., Kros, J. M., Kamphorst, W., Hol, E. M., de Vos, R. A. I., Fischer, D. F. <strong>Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies.</strong> Neurology 66 (suppl. 1): S86-S92, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16432153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16432153</a>] [<a href="https://doi.org/10.1212/01.wnl.0000193882.46003.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16432153">Van Leeuwen et al. (2006)</a> detected aberrant frameshifted proteins, APP+1 (APP; <a href="/entry/104760">104760</a>) and UBB+1 (UBB; <a href="/entry/191339">191339</a>), within the neuropathologic hallmarks of Alzheimer disease (AD; <a href="/entry/104300">104300</a>) and other MAPT-related dementias, including Pick disease, progressive supranuclear palsy, and less commonly frontotemporal dementia. <a href="#31" class="mim-tip-reference" title="van Leeuwen, F. W., van Tijn, P., Sonnemans, M. A. F., Hobo, B., Mann, D. M. A., Van Broeckhoven, C., Kumar-Singh, S., Cras, P., Leuba, G., Savioz, A., Maat-Schieman, M. L. C., Yamaguchi, H., Kros, J. M., Kamphorst, W., Hol, E. M., de Vos, R. A. I., Fischer, D. F. <strong>Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies.</strong> Neurology 66 (suppl. 1): S86-S92, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16432153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16432153</a>] [<a href="https://doi.org/10.1212/01.wnl.0000193882.46003.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16432153">Van Leeuwen et al. (2006)</a> postulated that accumulation of APP+1 and UBB+1, which represents defective proteasome function, contributes to various forms of dementia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16432153" 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="Botella-Lopez, A., Burgaya, F., Gavin, R., Garcia-Ayllon, M. S., Gomez-Tortosa, E., Pena-Casanova, J., Urena, J. M., Del Rio, J. A., Blesa, R., Soriano, E., Saez-Valero, J. <strong>Reelin expression and glycosylation patterns are altered in Alzheimer's disease.</strong> Proc. Nat. Acad. Sci. 103: 5573-5578, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16567613/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16567613</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16567613[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/10.1073/pnas.0601279103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16567613">Botella-Lopez et al. (2006)</a> found increased levels of a 180-kD reelin (RELN; <a href="/entry/600514">600514</a>) fragment in CSF from 19 patients with AD compared to 11 nondemented controls. Western blot and PCR analysis confirmed increased levels of reelin protein and mRNA in tissue samples from the frontal cortex of AD patients. Reelin was not increased in plasma samples, suggesting distinct cellular origins. The reelin 180-kD fragment was also increased in CSF samples of other neurodegenerative disorders, including frontotemporal dementia, PSP, and Parkinson disease (PD; <a href="/entry/168600">168600</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16567613" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="de Yebenes, J. G., Sarasa, J. L., Daniel, S. E., Lees, A. J. <strong>Familial progressive supranuclear palsy: description of a pedigree and review of the literature.</strong> Brain 118: 1095-1103, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7496773/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7496773</a>] [<a href="https://doi.org/10.1093/brain/118.5.1095" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7496773">De Yebenes et al. (1995)</a> described 7 families with multiple affected individuals. These included 3 suggesting autosomal dominant inheritance (see <a href="/entry/609454">609454</a>) and 1 family in which there was parental consanguinity, suggesting recessive inheritance. Although the majority of cases of progressive supranuclear palsy appear to be sporadic, there may be rare genetically determined forms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7496773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Golbe, L. I., Rubin, R. S., Cody, R. P., Belsh, J. M., Duvoisin, R. C., Grosmann, C., Lepore, F. E., Mark, M. H., Sachdeo, R. C., Sage, J. I., Zimmerman, T. R., Jr. <strong>Follow-up study of risk factors in progressive supranuclear palsy.</strong> Neurology 47: 148-154, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8710069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8710069</a>] [<a href="https://doi.org/10.1212/wnl.47.1.148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8710069">Golbe et al. (1996)</a> failed to demonstrate substantial contribution of heredity to the cause of progressive supranuclear palsy in a study of 91 personally examined patients (75 were age-matched with controls). They pointed out that the size of their study may not have been sufficient to demonstrate a subtle familial aggregation in progressive supranuclear palsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8710069" 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>The presence of affected members in at least 2 generations in 8 of the 12 families reported by <a href="#27" class="mim-tip-reference" title="Rojo, A., Pernaute, R. S., Fontan, A., Ruiz, P. G., Honnorat, J., Lynch, T., Chin, S., Gonzalo, I., Rabano, A., Martinez, A., Daniel, S., Pramstaller, P., Morris, H., Wood, N., Lees, A., Tabernero, C., Nyggard, T., Jackson, A. C., Hanson, A., de Yebenes, J. G. <strong>Clinical genetics of familial progressive supranuclear palsy.</strong> Brain 122: 1233-1245, 1999. Note: Erratum: Brain 123: 419 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10388790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10388790</a>] [<a href="https://doi.org/10.1093/brain/122.7.1233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10388790">Rojo et al. (1999)</a> and the absence of consanguinity suggested autosomal dominant transmission with incomplete penetrance. <a href="#27" class="mim-tip-reference" title="Rojo, A., Pernaute, R. S., Fontan, A., Ruiz, P. G., Honnorat, J., Lynch, T., Chin, S., Gonzalo, I., Rabano, A., Martinez, A., Daniel, S., Pramstaller, P., Morris, H., Wood, N., Lees, A., Tabernero, C., Nyggard, T., Jackson, A. C., Hanson, A., de Yebenes, J. G. <strong>Clinical genetics of familial progressive supranuclear palsy.</strong> Brain 122: 1233-1245, 1999. Note: Erratum: Brain 123: 419 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10388790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10388790</a>] [<a href="https://doi.org/10.1093/brain/122.7.1233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10388790">Rojo et al. (1999)</a> concluded that hereditary PSP is more frequent than previously thought and that the scarcity of familial cases may be related to a lack of recognition of the variable phenotypic expression of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10388790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Donker Kaat, L., Boon, A. J. W., Azmani, A., Kamphorst, W., Breteler, M. M. B., Anar, B., Heutink, P., van Swieten, J. C. <strong>Familial aggregation of parkinsonism in progressive supranuclear palsy.</strong> Neurology 73: 98-105, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19458322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19458322</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181a92bcc" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19458322">Donker Kaat et al. (2009)</a> found that 57 (33%) of 172 probands with PSP had at least 1 first-degree relative who had dementia or parkinsonism, compared to 131 (25%) of the control subjects (odds ratio of 1.5). In addition, patients with PSP had more first-degree relatives with parkinsonism compared to controls, (OR of 3.9). Twelve patients with PSP (7%) fulfilled the criteria for autosomal dominant transmission of PSP, dementia, tremor, or parkinsonism. One patient was found to have a P301L mutation in the MAPT gene (<a href="/entry/157140#0001">157140.0001</a>). The findings supported familial aggregation of parkinsonism in progressive supranuclear palsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19458322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Conrad, C., Andreadis, A., Trojanowski, J. Q., Dickson, D. W., Kang, D., Chen, X., Wiederholt, W., Hansen, L., Masliah, E., Thal, L. J., Katzman, R., Xia, Y., Saitoh, T. <strong>Genetic evidence for the involvement of tau in progressive supranuclear palsy.</strong> Ann. Neurol. 41: 277-281, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9029080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9029080</a>] [<a href="https://doi.org/10.1002/ana.410410222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9029080">Conrad et al. (1997)</a> demonstrated an association between progressive supranuclear palsy and a dinucleotide (TG) polymorphic repeat between exons 9 and 10 of the microtubule-associated protein tau gene (MAPT; <a href="/entry/157140">157140</a>). This association was subsequently confirmed by several other studies (<a href="#20" class="mim-tip-reference" title="Oliva, R., Tolosa, E., Ezquerra, M., Molinuevo, J. L., Valldeoriola, F., Burguera, J., Calopa, M., Villa, M., Ballesta, F. <strong>Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection.</strong> Arch. Neurol. 55: 1122-1124, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9708963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9708963</a>] [<a href="https://doi.org/10.1001/archneur.55.8.1122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9708963">Oliva et al., 1998</a>; <a href="#12" class="mim-tip-reference" title="Higgins, J. J., Litvan, I., Pho, L. T., Li, W., Nee, L. E. <strong>Progressive supranuclear gaze palsy is in linkage disequilibrium with the tau and not the alpha-synuclein gene.</strong> Neurology 50: 270-273, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9443491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9443491</a>] [<a href="https://doi.org/10.1212/wnl.50.1.270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9443491">Higgins et al., 1998</a>; <a href="#2" class="mim-tip-reference" title="Bennett, P., Bonifati, V., Bonuccelli, U., Colosimo, C., De Mari, M., Fabbrini, G., Marconi, R., Meco, G., Nicholl, D. J., Stocchi, F., Vanacore, N., Vieregge, P., Williams, A. C. <strong>Direct genetic evidence for involvement of tau in progressive supranuclear palsy.</strong> Neurology 51: 982-985, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781517</a>] [<a href="https://doi.org/10.1212/wnl.51.4.982" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781517">Bennett et al., 1998</a>). In each case, an overrepresentation of the most common allele (a0) and genotype (a0a0) was reported for the progressive supranuclear palsy group. However, due to the nature of the dinucleotide polymorphism, it was considered unlikely that this variation was biologically significant in the disease process, but was in fact in disequilibrium with other polymorphisms. <a href="#1" class="mim-tip-reference" title="Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., Hardy, J., Lynch, T., Bigio, E., Hutton, M. <strong>Association of an extended haplotype in the tau gene with progressive supranuclear palsy.</strong> Hum. Molec. Genet. 8: 711-715, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072441</a>] [<a href="https://doi.org/10.1093/hmg/8.4.711" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072441">Baker et al. (1999)</a> described 2 extended haplotypes, H1 and H2, that cover the human tau gene, and showed that the most common haplotype, H1, was significantly overrepresented in patients with PSP, extending earlier reports of the association between the intronic dinucleotide polymorphism a0 and the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9781517+9708963+9443491+10072441+9029080" 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>Using an autosomal recessive model, <a href="#12" class="mim-tip-reference" title="Higgins, J. J., Litvan, I., Pho, L. T., Li, W., Nee, L. E. <strong>Progressive supranuclear gaze palsy is in linkage disequilibrium with the tau and not the alpha-synuclein gene.</strong> Neurology 50: 270-273, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9443491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9443491</a>] [<a href="https://doi.org/10.1212/wnl.50.1.270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9443491">Higgins et al. (1998)</a> found that progressive supranuclear palsy was in linkage disequilibrium with the tau gene, but not with the alpha-synuclein (<a href="/entry/163890">163890</a>) gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9443491" 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="Higgins, J. J., Adler, R. L., Loveless, J. M. <strong>Mutational analysis of the tau gene in progressive supranuclear palsy.</strong> Neurology 53: 1421-1424, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10534245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10534245</a>] [<a href="https://doi.org/10.1212/wnl.53.7.1421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10534245">Higgins et al. (1999)</a> found that 22 unrelated patients with PSP had a common extended haplotype of the tau gene, designated HapA, characterized by a homozygous polymorphism in the 5-prime splice site untranslated region of exon 1, 2 missense mutations in exon 4A, and a nonsense mutation in the 5-prime splice site of exon 8. <a href="#10" class="mim-tip-reference" title="Higgins, J. J., Golbe, L. I., De Biase, A., Jankovic, J., Factor, S. A., Adler, R. L. <strong>An extended 5-prime tau susceptibility haplotype in progressive supranuclear palsy.</strong> Neurology 55: 1364-1367, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11087782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11087782</a>] [<a href="https://doi.org/10.1212/wnl.55.9.1364" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11087782">Higgins et al. (2000)</a> found that 51 of 52 patients with PSP had the HapA haplotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11087782+10534245" 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 25 unrelated individuals with PSP and 6 individuals with corticobasal degeneration, <a href="#11" class="mim-tip-reference" title="Higgins, J. J., Litvan, I., Nee, L. E., Loveless, J. M. <strong>A lack of the R406W tau mutation in progressive supranuclear palsy and corticobasal degeneration.</strong> Neurology 52: 404-406, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9932968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9932968</a>] [<a href="https://doi.org/10.1212/wnl.52.2.404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9932968">Higgins et al. (1999)</a> failed to demonstrate the R406W tau mutation (<a href="/entry/157140#0003">157140.0003</a>) that had been reported by <a href="#13" class="mim-tip-reference" title="Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., Hackett, J., Adamson, J., and 39 others. <strong>Association of missense and 5-prime-splice-site mutations in tau with the inherited dementia FTDP-17.</strong> Nature 393: 702-705, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9641683/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9641683</a>] [<a href="https://doi.org/10.1038/31508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9641683">Hutton et al. (1998)</a> in a family segregating an atypical form of progressive supranuclear palsy in an autosomal dominant manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9641683+9932968" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Morris, H. R., Vaughan, J. R., Datta, S. R., Bandopadhyay, R., Rohan de Silva, H. A., Schrag, A., Cairns, N. J., Burn, D., Nath, U., Lantos, P. L., Daniel, S., Lees, A. J., Quinn, N. P., Wood, N. W. <strong>Multiple system atrophy/progressive supranuclear palsy: alpha-synuclein, synphilin, tau, and APOE.</strong> Neurology 55: 1918-1920, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134398</a>] [<a href="https://doi.org/10.1212/wnl.55.12.1918" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11134398">Morris et al. (2000)</a> analyzed alpha-synuclein, tau, synphilin (<a href="/entry/603779">603779</a>), and APOE (<a href="/entry/107741">107741</a>) genotypes in 50 patients with PSP. They confirmed the predisposing effect of the tau H1 haplotype described by <a href="#1" class="mim-tip-reference" title="Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., Hardy, J., Lynch, T., Bigio, E., Hutton, M. <strong>Association of an extended haplotype in the tau gene with progressive supranuclear palsy.</strong> Hum. Molec. Genet. 8: 711-715, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072441</a>] [<a href="https://doi.org/10.1093/hmg/8.4.711" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072441">Baker et al. (1999)</a> and others, and found no association between PSP and alpha-synuclein, synphilin, or APOE. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10072441+11134398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Litvan, I., Baker, M., Hutton, M. <strong>Tau genotype: no effect on onset, symptom severity, or survival in progressive supranuclear palsy.</strong> Neurology 57: 138-140, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445645</a>] [<a href="https://doi.org/10.1212/wnl.57.1.138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11445645">Litvan et al. (2001)</a> examined 63 patients with PSP and found that the presence of the tau H1/H1 genotype was significantly greater in patients compared to controls, as previously reported. There was no difference between PSP cases with one H1 or two H1 alleles in the age of onset, severity, or survival of patients, thus showing that tau genotyping does not predict the prognosis of PSP. However, <a href="#16" class="mim-tip-reference" title="Litvan, I., Baker, M., Hutton, M. <strong>Tau genotype: no effect on onset, symptom severity, or survival in progressive supranuclear palsy.</strong> Neurology 57: 138-140, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11445645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11445645</a>] [<a href="https://doi.org/10.1212/wnl.57.1.138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11445645">Litvan et al. (2001)</a> noted that the majority of the PSP patients carried the H1/H1 genotype (88.9%) and none of the patients carried the H2/H2 genotype, thus limiting the conclusions of the study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11445645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 96 patients with PSP, <a href="#24" class="mim-tip-reference" title="Poorkaj, P., Muma, N. A., Zhukareva, V., Cochran, E. J., Shannon, K. M., Hurtig, H., Koller, W. C., Bird, T. D., Trojanowski, J. Q., Lee, V. M.-Y., Schellenberg, G. D. <strong>An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.</strong> Ann. Neurol. 52: 511-516, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12325083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12325083</a>] [<a href="https://doi.org/10.1002/ana.10340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12325083">Poorkaj et al. (2002)</a> identified 1 patient with a mutation in a highly conserved position in exon 1 of the MAPT gene (<a href="/entry/157140#0019">157140.0019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12325083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs from a consanguineous marriage who presented with a form of progressive supranuclear palsy designated 'tauopathy and respiratory failure,' <a href="#19" class="mim-tip-reference" title="Nicholl, D. J., Greenstone, M. A., Clarke, C. E., Rizzu, P., Crooks, D., Crowe, A., Trojanowski, J. Q., Lee, V. M.-Y., Heutink, P. <strong>An English kindred with a novel recessive tauopathy and respiratory failure.</strong> Ann. Neurol. 54: 682-686, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14595660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14595660</a>] [<a href="https://doi.org/10.1002/ana.10747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14595660">Nicholl et al. (2003)</a> identified a homozygous 1291C-T transition in exon 12 of the MAPT gene, resulting in a nonconserved ser352-to-leu (S352L) substitution in the N-terminal repeat of the tau protein. Both sibs carried the H1/H1 haplotype associated with PSP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14595660" 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="#5" class="mim-tip-reference" title="de Silva, R., Hope, A., Pittman, A., Weale, M. E., Morris, H. R., Wood, N. W., Lees, A. J. <strong>Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy.</strong> Neurology 61: 407-409, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12913211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12913211</a>] [<a href="https://doi.org/10.1212/01.wnl.0000073140.25533.90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12913211">De Silva et al. (2003)</a> presented evidence suggesting that the Q7R polymorphism of the saitohin gene (<a href="/entry/607067">607067</a>), which is located within intron 9 of the MAPT gene, is associated with PSP: 47 of 49 (95.9%) affected patients had the QQ genotype, whereas 37 of 62 (59.7%) controls had the QQ genotype. However, the authors noted that the Q allele, which represents the tau H1 haplotype, was also the most common haplotype in normal controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12913211" 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>Using single-nucleotide polymorphisms, <a href="#23" class="mim-tip-reference" title="Pittman, A. M., Myers, A. J., Duckworth, J., Bryden, L., Hanson, M., Abou-Sleiman, P., Wood, N. W., Hardy, J., Lees, A., de Silva, R. <strong>The structure of the tau haplotype in controls and in progressive supranuclear palsy.</strong> Hum. Molec. Genet. 13: 1267-1274, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15115761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15115761</a>] [<a href="https://doi.org/10.1093/hmg/ddh138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15115761">Pittman et al. (2004)</a> mapped linkage disequilibrium (LD) in the regions flanking MAPT and established the maximum extent of the haplotype block on chromosome 17q21.31 as a region covering approximately 2 Mb. The gene-rich region extended centromerically beyond the corticotropin-releasing hormone receptor-1 gene (CRHR1; <a href="/entry/122561">122561</a>) to a region of approximately 400 kb, where there was a complete loss of LD. The telomeric end was defined by an approximately 150-kb region just beyond the WNT3 (<a href="/entry/165330">165330</a>) gene. The authors showed that the entire, fully extended H1 haplotype was associated with PSP, which implicates several other genes in addition to MAPT as candidate pathogenic loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15115761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Rademakers, R., Melquist, S., Cruts, M., Theuns, J., Del-Favero, J., Poorkaj, P., Baker, M., Sleegers, K., Crook, R., De Pooter, T., Bel Kacem, S., Adamson, J., and 15 others. <strong>High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.</strong> Hum. Molec. Genet. 14: 3281-3292, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16195395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16195395</a>] [<a href="https://doi.org/10.1093/hmg/ddi361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16195395">Rademakers et al. (2005)</a> and <a href="#22" class="mim-tip-reference" title="Pittman, A. M., Myers, A. J., Abou-Sleiman, P., Fung, H. C., Kaleem, M., Marlowe, L., Duckworth, J., Leung, D., Williams, D., Kilford, L., Thomas, N., Morris, C. M., Dickson, D., Wood, N. W., Hardy, J., Lees, A. J., de Silva, R. <strong>Linkage disequilibrium fine mapping and haplotype association of the tau gene in progressive supranuclear palsy and corticobasal degeneration.</strong> J. Med. Genet. 42: 837-846, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15792962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15792962</a>] [<a href="https://doi.org/10.1136/jmg.2005.031377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15792962">Pittman et al. (2005)</a> used a large collection of pathologically confirmed PSP samples to fine map PSNP risk on H1 chromosomes in PSNP cases and controls. PSNP risk was associated with an extended subhaplotype (H1c), and the risk for PSNP was narrowed to a 22-kb region in intron 0 of MAPT by examining younger patients with, presumably, a larger genetic component to their disease. The most likely explanation of the association of the MAPT H1 haplotype and PSNP is that variants in the H1 (and H2) haplotypes confer risk of (protect against) disease by altering expression at the locus, with the risky H1 haplotype expressing higher levels of MAPT. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16195395+15792962" 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 the family reported by <a href="#27" class="mim-tip-reference" title="Rojo, A., Pernaute, R. S., Fontan, A., Ruiz, P. G., Honnorat, J., Lynch, T., Chin, S., Gonzalo, I., Rabano, A., Martinez, A., Daniel, S., Pramstaller, P., Morris, H., Wood, N., Lees, A., Tabernero, C., Nyggard, T., Jackson, A. C., Hanson, A., de Yebenes, J. G. <strong>Clinical genetics of familial progressive supranuclear palsy.</strong> Brain 122: 1233-1245, 1999. Note: Erratum: Brain 123: 419 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10388790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10388790</a>] [<a href="https://doi.org/10.1093/brain/122.7.1233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10388790">Rojo et al. (1999)</a>, <a href="#28" class="mim-tip-reference" title="Ros, R., Thobois, S., Streichenberger, N., Kopp, N., Sanchez, M. P., Perez, M., Hoenicka, J., Avila, J., Honnorat, J., de Yebenes, J. G. <strong>A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.</strong> Arch. Neurol. 62: 1444-1450, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16157753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16157753</a>] [<a href="https://doi.org/10.1001/archneur.62.9.1444" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16157753">Ros et al. (2005)</a> identified a heterozygous mutation in the MAPT gene (<a href="/entry/157140#0025">157140.0025</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10388790+16157753" 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>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association of PSP with repeat expansion in the ATXN2 gene, see <a href="/entry/601517#0002">601517.0002</a>.</p>
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<a href="#Steele1964" class="mim-tip-reference" title="Steele, J. C., Richardson, J. C., Olszewski, J. <strong>Progressive supranuclear palsy: a heterogeneous degeneration involving brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia.</strong> Arch. Neurol. 10: 333-359, 1964.">Steele et al. (1964)</a>
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[<a href="https://doi.org/10.1212/wnl.47.1.148" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.53.7.1421" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.55.9.1364" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.52.2.404" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.50.1.270" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/31508" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.20707" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/01.nrl.0000094943.84390.cf" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.57.1.138" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.55.12.1918" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000052991.70149.68" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.55.8.1122" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.58.11.1846" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.2005.031377" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddh138" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.10340" target="_blank">Full Text</a>]
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Quadros, A., Weeks, O. I., Ait-Ghezala, G.
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<strong>Role of tau in Alzheimer's dementia and other neurodegenerative diseases.</strong>
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J. Appl. Biomed. 5: 1-12, 2007.
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</p>
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</div>
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</li>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Rademakers2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rademakers, R., Melquist, S., Cruts, M., Theuns, J., Del-Favero, J., Poorkaj, P., Baker, M., Sleegers, K., Crook, R., De Pooter, T., Bel Kacem, S., Adamson, J., and 15 others.
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<strong>High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.</strong>
|
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Hum. Molec. Genet. 14: 3281-3292, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16195395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16195395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16195395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddi361" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Rojo1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rojo, A., Pernaute, R. S., Fontan, A., Ruiz, P. G., Honnorat, J., Lynch, T., Chin, S., Gonzalo, I., Rabano, A., Martinez, A., Daniel, S., Pramstaller, P., Morris, H., Wood, N., Lees, A., Tabernero, C., Nyggard, T., Jackson, A. C., Hanson, A., de Yebenes, J. G.
|
|
<strong>Clinical genetics of familial progressive supranuclear palsy.</strong>
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Brain 122: 1233-1245, 1999. Note: Erratum: Brain 123: 419 only, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10388790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10388790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10388790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/122.7.1233" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="Ros2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ros, R., Thobois, S., Streichenberger, N., Kopp, N., Sanchez, M. P., Perez, M., Hoenicka, J., Avila, J., Honnorat, J., de Yebenes, J. G.
|
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<strong>A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.</strong>
|
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Arch. Neurol. 62: 1444-1450, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16157753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16157753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16157753" 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.62.9.1444" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="Steele1964" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Steele, J. C., Richardson, J. C., Olszewski, J.
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<strong>Progressive supranuclear palsy: a heterogeneous degeneration involving brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia.</strong>
|
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Arch. Neurol. 10: 333-359, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14107684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14107684</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14107684" 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.1964.00460160003001" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Tuite2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tuite, P. J., Clark, H. B., Bergeron, C., Bower, M., St George-Hyslop, P., Mateva, V., Anderson, J., Knopman, D. S.
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<strong>Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy.</strong>
|
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Arch. Neurol. 62: 1453-1457, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16157754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16157754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16157754" 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.62.9.1453" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="van Leeuwen2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Leeuwen, F. W., van Tijn, P., Sonnemans, M. A. F., Hobo, B., Mann, D. M. A., Van Broeckhoven, C., Kumar-Singh, S., Cras, P., Leuba, G., Savioz, A., Maat-Schieman, M. L. C., Yamaguchi, H., Kros, J. M., Kamphorst, W., Hol, E. M., de Vos, R. A. I., Fischer, D. F.
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<strong>Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies.</strong>
|
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Neurology 66 (suppl. 1): S86-S92, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16432153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16432153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16432153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000193882.46003.6d" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/30/2012
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 12/15/2009<br>George E. Tiller - updated : 9/7/2006<br>Cassandra L. Kniffin - updated : 5/24/2006<br>Cassandra L. Kniffin - updated : 4/20/2006<br>Cassandra L. Kniffin - updated : 4/13/2006<br>Cassandra L. Kniffin - updated : 11/3/2005<br>Cassandra L. Kniffin - updated : 6/9/2004<br>Cassandra L. Kniffin - updated : 1/20/2004<br>Cassandra L. Kniffin - updated : 9/3/2003<br>Cassandra L. Kniffin - reorganized : 3/11/2003<br>Cassandra L. Kniffin - updated : 10/4/2002<br>Cassandra L. Kniffin - updated : 7/25/2002<br>Cassandra L. Kniffin - updated : 6/13/2002<br>Victor A. McKusick - updated : 12/21/2001<br>Victor A. McKusick - updated : 9/30/1999<br>Victor A. McKusick - updated : 4/7/1999<br>Orest Hurko - updated : 3/24/1999<br>Orest Hurko - updated : 11/24/1996
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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<div 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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Orest Hurko : 3/6/1996
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</span>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/11/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 09/11/2024<br>carol : 02/14/2019<br>carol : 02/26/2015<br>carol : 5/31/2012<br>carol : 5/31/2012<br>ckniffin : 5/30/2012<br>carol : 3/9/2012<br>carol : 4/14/2011<br>carol : 12/23/2009<br>ckniffin : 12/15/2009<br>wwang : 1/12/2009<br>carol : 3/29/2007<br>alopez : 9/7/2006<br>wwang : 5/25/2006<br>ckniffin : 5/24/2006<br>wwang : 4/24/2006<br>ckniffin : 4/20/2006<br>wwang : 4/18/2006<br>ckniffin : 4/13/2006<br>wwang : 11/14/2005<br>ckniffin : 11/3/2005<br>wwang : 7/14/2005<br>wwang : 7/11/2005<br>ckniffin : 6/30/2005<br>carol : 6/10/2004<br>ckniffin : 6/9/2004<br>ckniffin : 6/8/2004<br>tkritzer : 1/27/2004<br>ckniffin : 1/20/2004<br>ckniffin : 9/3/2003<br>carol : 3/11/2003<br>ckniffin : 3/5/2003<br>carol : 2/25/2003<br>ckniffin : 10/4/2002<br>tkritzer : 8/9/2002<br>ckniffin : 7/25/2002<br>carol : 6/17/2002<br>ckniffin : 6/13/2002<br>alopez : 5/14/2002<br>terry : 5/9/2002<br>cwells : 1/10/2002<br>cwells : 1/2/2002<br>terry : 12/21/2001<br>alopez : 1/8/2001<br>alopez : 10/5/1999<br>terry : 9/30/1999<br>terry : 6/9/1999<br>carol : 4/7/1999<br>carol : 3/24/1999<br>carol : 6/29/1998<br>alopez : 6/11/1997<br>mark : 11/24/1996<br>terry : 10/22/1996<br>mark : 3/11/1996<br>mark : 3/6/1996
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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 class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 601104
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div >
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<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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PSP<br />
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STEELE-RICHARDSON-OLSZEWSKI SYNDROME
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 192976002;
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<strong>ICD10CM:</strong> G23.1;
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<strong>ORPHA:</strong> 240071, 683;
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<strong>DO:</strong> 678;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<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 small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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17q21.31
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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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Supranuclear palsy, progressive
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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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601104
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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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Autosomal dominant
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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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3
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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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MAPT
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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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157140
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that progressive supranuclear palsy-1 (PSNP1) is caused by heterozygous mutation in the gene encoding microtubule-associated protein tau (MAPT; 157140) on chromosome 17q21.</p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</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>Progressive supranuclear palsy (PSNP, PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level (Baker et al., 1999). </p><p>Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; 600274), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (172700) should be restricted to the pathologic finding of Pick bodies. </p><p><strong><em>Genetic Heterogeneity of Progressive Supranuclear Palsy</em></strong></p><p>
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Other loci for PSNP have been mapped to chromosome 1q31 (PSNP2; 609454) and 11p12-p11 (PSNP3; 610898).</p><p>See also Parkinson-dementia syndrome and atypical progressive supranuclear palsy (260540).</p>
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<strong>Clinical Features</strong>
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<p>Rojo et al. (1999) reported 12 pedigrees of familial progressive supranuclear palsy, confirmed by pathology in 4 probands. Pathologic diagnosis was confirmed by internationally agreed criteria. The spectrum of the clinical phenotypes in these families was variable, including 34 typical cases of PSP (12 probands plus 22 secondary cases), 3 patients with postural tremor, 3 with dementia, 1 with parkinsonism, 2 with tremor, dystonia, gaze palsy, and tics, and 1 with gait disturbance. Ros et al. (2005) provided an update on 1 of the families reported by Rojo et al. (1999). Three family members were affected. At 37 years of age, the proband developed an akinetic-rigid syndrome, gait disturbance, frequent falls, micrographia, dysarthria, eyelid apraxia, abolition of upgaze, and hyperreflexia with unilateral extensor plantar response. PET scan showed reduced striatal fluorodopa uptake. The patient showed disease progression, with axial dystonia, mutism, complete vertical gaze palsy, and dysphagia, leading to death at age 45 years. Neuropathologic examination showed atrophy of the mesencephalon, pons, striatum, and subthalamic nuclei, and depigmentation of the substantia nigra. There was tau protein accumulation in neurons and glia, primarily in the mesencephalon. Protein analysis of brain tissue detected hyperphosphorylated tau protein and overexpression of tau isoforms with 4 microtubule-binding repeats. </p><p>Nath et al. (2003) provided a detailed review of the clinical features of 187 patients with PSP in the United Kingdom. The most common symptoms included bradykinesia, falls, cognitive impairment, bulbar or language problems, and visual disturbances, such as diplopia. Other variable features included tremor, retrocollis, limb dystonia, and favorable response to levodopa. Average age at onset was 66 years, and the mean survival was 5 to 6 years. </p><p>Tuite et al. (2005) reported a family in which several members had clinical features consistent with PSP and others had features consistent with corticobasal degeneration. Neuropathologic examination of 2 affected sibs showed features of PSP in 1 sib and features of CBD in the other. Specifically, PSP features included tufted astrocytes, whereas CBD features included ballooned neurons and astrocytic plaques. Both patients had severe neuronal loss in the substantia nigra. Genetic studies of 4 affected family members demonstrated the H1/H1 tau haplotype, but no mutations in the MAPT gene were identified. There was a history of remote consanguinity, and Tuite et al. (2005) suggested a unifying genetic etiology in this family. </p><p>Donker Kaat et al. (2009) reported 176 patients who fulfilled the diagnostic criteria for PSP, including 65 possible, 91 probable, and 20 definite. The mean age at PSP onset was 66.5 years. Presenting symptoms included gait disorder with falls (65%), behavioral changes (21%), bradykinesia (20%), cognitive decline (16%), stiffness (14%), speech problems (9%), visual complaints (6%), and tremor (4%). Tremor at disease onset occurred significantly more frequently in patients with PSP who had a positive family history compared to patients who did not (9% vs 1%, p = 0.02). Neuropathologic examination of 20 patients were consistent with the diagnosis. Detailed results of 5 patients showed mild frontal atrophy and depigmentation of the substantia nigra and locus ceruleus. There was severe neuronal loss and gliosis in the pallidum, subthalamic nucleus, and substantia nigra. Immunohistochemistry with the MAPT AT8 antibody (which stains 4-repeat tau) showed neurofibrillary tangles, tufted astrocytes, and coiled bodies with threads in the striatum and caudate; a variable number of these were found in the subthalamic nucleus and thalamus. The neocortex showed a few pre-tangles and tufted astrocytes in the frontal, temporal, and parietal cortex. </p><p><strong><em>Neuroradiologic Studies</em></strong></p><p>
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Piccini et al. (2001) studied regional cerebral dopaminergic function and glucose metabolism in members of 2 large kindreds with familial PSP in an effort to identify subclinical cases. They studied 3 clinically affected PSP patients who showed significant reduction in caudate and putamen uptake of (18)F-dopa in positron emission tomography (PET) studies, along with a significant reduction in striatal, lateral, and medial premotor area and dorsal prefrontal cortex glucose metabolism. In 4 of 15 asymptomatic relatives, caudate and putamen (18)F-dopa uptake was 2.5 SDs lower than the normal mean. These 4 subjects and a fifth asymptomatic relative with normal (18)F-dopa uptake showed a significant reduction of cortical and striatal glucose metabolism in a pattern similar to that of their affected relatives. </p><p>To calculate the rate of brain atrophy in 6 patients with PSP, Josephs et al. (2006) used serial MRI scans and a technique called the 'boundary shift integral,' which calculates the integral change in the brain/CSF fluid boundary over the interior and exterior surfaces of the brain. The mean interval between baseline and final MRI scan was 3.1 years. Patients had a rate of cerebral atrophy and ventricular expansion of 1.3% and 7% per year, respectively, compared to 0.4% and 1.8%, respectively, in control individuals. Josephs et al. (2006) suggested that these benchmark rates and the boundary shift integral technique could be used to monitor disease progression and response to therapy in PSP. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Nicholl et al. (2003) described a form of PSP characterized by fatal respiratory hypoventilation in 2 sibs from a consanguineous marriage. The authors called the disorder 'tauopathy and respiratory failure.' The 29-year-old pregnant sister developed dyspnea with stridor, and later had a generalized seizure that left her unconscious. Despite therapy, she died after 9 days. Her 30-year-old brother developed cough syncope, dyspnea, and central apnea, which progressed over 40 months, leading to death at age 34 years. During the illness, he showed slow smooth pursuit and impaired saccades, mild rigidity and bradykinesia, and myoclonic jerks. Neuropathologic examination showed widespread neuronal eosinophilia and pyknosis with gliosis in multiple brain regions, consistent with hypoxic brain damage. There was pervasive tau pathology in neuronal perikarya, neurites, and threads in the gray matter of the hippocampus, thalamus, and pons, but not in the cerebral cortex. Functional studies indicated that the mutated protein showed reduced binding to microtubules as well as increased fibrillization and aggregation. Both sibs carried the H1/H1 haplotype associated with PSP. Nicholl et al. (2003) commented on the unusual apparent autosomal recessive inheritance of this tauopathy. In a review of the role of tau in neurodegenerative diseases, Quadros et al. (2007) classified the disorder in the sibs reported by Nicholl et al. (2003) as PSP. </p>
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<strong>Pathogenesis</strong>
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<p>Van Leeuwen et al. (2006) detected aberrant frameshifted proteins, APP+1 (APP; 104760) and UBB+1 (UBB; 191339), within the neuropathologic hallmarks of Alzheimer disease (AD; 104300) and other MAPT-related dementias, including Pick disease, progressive supranuclear palsy, and less commonly frontotemporal dementia. Van Leeuwen et al. (2006) postulated that accumulation of APP+1 and UBB+1, which represents defective proteasome function, contributes to various forms of dementia. </p><p>Botella-Lopez et al. (2006) found increased levels of a 180-kD reelin (RELN; 600514) fragment in CSF from 19 patients with AD compared to 11 nondemented controls. Western blot and PCR analysis confirmed increased levels of reelin protein and mRNA in tissue samples from the frontal cortex of AD patients. Reelin was not increased in plasma samples, suggesting distinct cellular origins. The reelin 180-kD fragment was also increased in CSF samples of other neurodegenerative disorders, including frontotemporal dementia, PSP, and Parkinson disease (PD; 168600). </p>
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<strong>Inheritance</strong>
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<p>De Yebenes et al. (1995) described 7 families with multiple affected individuals. These included 3 suggesting autosomal dominant inheritance (see 609454) and 1 family in which there was parental consanguinity, suggesting recessive inheritance. Although the majority of cases of progressive supranuclear palsy appear to be sporadic, there may be rare genetically determined forms. </p><p>Golbe et al. (1996) failed to demonstrate substantial contribution of heredity to the cause of progressive supranuclear palsy in a study of 91 personally examined patients (75 were age-matched with controls). They pointed out that the size of their study may not have been sufficient to demonstrate a subtle familial aggregation in progressive supranuclear palsy. </p><p>The presence of affected members in at least 2 generations in 8 of the 12 families reported by Rojo et al. (1999) and the absence of consanguinity suggested autosomal dominant transmission with incomplete penetrance. Rojo et al. (1999) concluded that hereditary PSP is more frequent than previously thought and that the scarcity of familial cases may be related to a lack of recognition of the variable phenotypic expression of the disease. </p><p>Donker Kaat et al. (2009) found that 57 (33%) of 172 probands with PSP had at least 1 first-degree relative who had dementia or parkinsonism, compared to 131 (25%) of the control subjects (odds ratio of 1.5). In addition, patients with PSP had more first-degree relatives with parkinsonism compared to controls, (OR of 3.9). Twelve patients with PSP (7%) fulfilled the criteria for autosomal dominant transmission of PSP, dementia, tremor, or parkinsonism. One patient was found to have a P301L mutation in the MAPT gene (157140.0001). The findings supported familial aggregation of parkinsonism in progressive supranuclear palsy. </p>
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<strong>Molecular Genetics</strong>
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<p>Conrad et al. (1997) demonstrated an association between progressive supranuclear palsy and a dinucleotide (TG) polymorphic repeat between exons 9 and 10 of the microtubule-associated protein tau gene (MAPT; 157140). This association was subsequently confirmed by several other studies (Oliva et al., 1998; Higgins et al., 1998; Bennett et al., 1998). In each case, an overrepresentation of the most common allele (a0) and genotype (a0a0) was reported for the progressive supranuclear palsy group. However, due to the nature of the dinucleotide polymorphism, it was considered unlikely that this variation was biologically significant in the disease process, but was in fact in disequilibrium with other polymorphisms. Baker et al. (1999) described 2 extended haplotypes, H1 and H2, that cover the human tau gene, and showed that the most common haplotype, H1, was significantly overrepresented in patients with PSP, extending earlier reports of the association between the intronic dinucleotide polymorphism a0 and the disorder. </p><p>Using an autosomal recessive model, Higgins et al. (1998) found that progressive supranuclear palsy was in linkage disequilibrium with the tau gene, but not with the alpha-synuclein (163890) gene. </p><p>Higgins et al. (1999) found that 22 unrelated patients with PSP had a common extended haplotype of the tau gene, designated HapA, characterized by a homozygous polymorphism in the 5-prime splice site untranslated region of exon 1, 2 missense mutations in exon 4A, and a nonsense mutation in the 5-prime splice site of exon 8. Higgins et al. (2000) found that 51 of 52 patients with PSP had the HapA haplotype. </p><p>In 25 unrelated individuals with PSP and 6 individuals with corticobasal degeneration, Higgins et al. (1999) failed to demonstrate the R406W tau mutation (157140.0003) that had been reported by Hutton et al. (1998) in a family segregating an atypical form of progressive supranuclear palsy in an autosomal dominant manner. </p><p>Morris et al. (2000) analyzed alpha-synuclein, tau, synphilin (603779), and APOE (107741) genotypes in 50 patients with PSP. They confirmed the predisposing effect of the tau H1 haplotype described by Baker et al. (1999) and others, and found no association between PSP and alpha-synuclein, synphilin, or APOE. </p><p>Litvan et al. (2001) examined 63 patients with PSP and found that the presence of the tau H1/H1 genotype was significantly greater in patients compared to controls, as previously reported. There was no difference between PSP cases with one H1 or two H1 alleles in the age of onset, severity, or survival of patients, thus showing that tau genotyping does not predict the prognosis of PSP. However, Litvan et al. (2001) noted that the majority of the PSP patients carried the H1/H1 genotype (88.9%) and none of the patients carried the H2/H2 genotype, thus limiting the conclusions of the study. </p><p>Among 96 patients with PSP, Poorkaj et al. (2002) identified 1 patient with a mutation in a highly conserved position in exon 1 of the MAPT gene (157140.0019). </p><p>In 2 sibs from a consanguineous marriage who presented with a form of progressive supranuclear palsy designated 'tauopathy and respiratory failure,' Nicholl et al. (2003) identified a homozygous 1291C-T transition in exon 12 of the MAPT gene, resulting in a nonconserved ser352-to-leu (S352L) substitution in the N-terminal repeat of the tau protein. Both sibs carried the H1/H1 haplotype associated with PSP. </p><p>De Silva et al. (2003) presented evidence suggesting that the Q7R polymorphism of the saitohin gene (607067), which is located within intron 9 of the MAPT gene, is associated with PSP: 47 of 49 (95.9%) affected patients had the QQ genotype, whereas 37 of 62 (59.7%) controls had the QQ genotype. However, the authors noted that the Q allele, which represents the tau H1 haplotype, was also the most common haplotype in normal controls. </p><p>Using single-nucleotide polymorphisms, Pittman et al. (2004) mapped linkage disequilibrium (LD) in the regions flanking MAPT and established the maximum extent of the haplotype block on chromosome 17q21.31 as a region covering approximately 2 Mb. The gene-rich region extended centromerically beyond the corticotropin-releasing hormone receptor-1 gene (CRHR1; 122561) to a region of approximately 400 kb, where there was a complete loss of LD. The telomeric end was defined by an approximately 150-kb region just beyond the WNT3 (165330) gene. The authors showed that the entire, fully extended H1 haplotype was associated with PSP, which implicates several other genes in addition to MAPT as candidate pathogenic loci. </p><p>Rademakers et al. (2005) and Pittman et al. (2005) used a large collection of pathologically confirmed PSP samples to fine map PSNP risk on H1 chromosomes in PSNP cases and controls. PSNP risk was associated with an extended subhaplotype (H1c), and the risk for PSNP was narrowed to a 22-kb region in intron 0 of MAPT by examining younger patients with, presumably, a larger genetic component to their disease. The most likely explanation of the association of the MAPT H1 haplotype and PSNP is that variants in the H1 (and H2) haplotypes confer risk of (protect against) disease by altering expression at the locus, with the risky H1 haplotype expressing higher levels of MAPT. </p><p>In affected members of the family reported by Rojo et al. (1999), Ros et al. (2005) identified a heterozygous mutation in the MAPT gene (157140.0025). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association of PSP with repeat expansion in the ATXN2 gene, see 601517.0002.</p>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Steele et al. (1964)
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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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<ol>
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Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., Hardy, J., Lynch, T., Bigio, E., Hutton, M.
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<strong>Association of an extended haplotype in the tau gene with progressive supranuclear palsy.</strong>
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Hum. Molec. Genet. 8: 711-715, 1999.
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[PubMed: 10072441]
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Bennett, P., Bonifati, V., Bonuccelli, U., Colosimo, C., De Mari, M., Fabbrini, G., Marconi, R., Meco, G., Nicholl, D. J., Stocchi, F., Vanacore, N., Vieregge, P., Williams, A. C.
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<strong>Direct genetic evidence for involvement of tau in progressive supranuclear palsy.</strong>
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Neurology 51: 982-985, 1998.
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Botella-Lopez, A., Burgaya, F., Gavin, R., Garcia-Ayllon, M. S., Gomez-Tortosa, E., Pena-Casanova, J., Urena, J. M., Del Rio, J. A., Blesa, R., Soriano, E., Saez-Valero, J.
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Conrad, C., Andreadis, A., Trojanowski, J. Q., Dickson, D. W., Kang, D., Chen, X., Wiederholt, W., Hansen, L., Masliah, E., Thal, L. J., Katzman, R., Xia, Y., Saitoh, T.
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de Silva, R., Hope, A., Pittman, A., Weale, M. E., Morris, H. R., Wood, N. W., Lees, A. J.
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<strong>Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy.</strong>
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de Yebenes, J. G., Sarasa, J. L., Daniel, S. E., Lees, A. J.
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Donker Kaat, L., Boon, A. J. W., Azmani, A., Kamphorst, W., Breteler, M. M. B., Anar, B., Heutink, P., van Swieten, J. C.
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Golbe, L. I., Rubin, R. S., Cody, R. P., Belsh, J. M., Duvoisin, R. C., Grosmann, C., Lepore, F. E., Mark, M. H., Sachdeo, R. C., Sage, J. I., Zimmerman, T. R., Jr.
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<strong>Follow-up study of risk factors in progressive supranuclear palsy.</strong>
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Higgins, J. J., Adler, R. L., Loveless, J. M.
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<strong>Mutational analysis of the tau gene in progressive supranuclear palsy.</strong>
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Higgins, J. J., Golbe, L. I., De Biase, A., Jankovic, J., Factor, S. A., Adler, R. L.
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<strong>An extended 5-prime tau susceptibility haplotype in progressive supranuclear palsy.</strong>
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Neurology 55: 1364-1367, 2000.
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[PubMed: 11087782]
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Higgins, J. J., Litvan, I., Nee, L. E., Loveless, J. M.
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<strong>A lack of the R406W tau mutation in progressive supranuclear palsy and corticobasal degeneration.</strong>
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Neurology 52: 404-406, 1999.
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[PubMed: 9932968]
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[Full Text: https://doi.org/10.1212/wnl.52.2.404]
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Higgins, J. J., Litvan, I., Pho, L. T., Li, W., Nee, L. E.
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<strong>Progressive supranuclear gaze palsy is in linkage disequilibrium with the tau and not the alpha-synuclein gene.</strong>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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