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<title>
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Entry
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- #260540 - PARKINSON-DEMENTIA SYNDROME
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- OMIM
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<a href="#molecularGenetics">Molecular Genetics</a>
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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=19332&Typ=Pat" title="Progressive supranuclear palsy-predominant parkinsonism syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Progressive supranuclear p… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19333&Typ=Pat" title="Progressive supranuclear palsy-pure akinesia with gait freezing syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Progressive supranuclear p… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19334&Typ=Pat" title="Progressive supranuclear palsy-corticobasal syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Progressive supranuclear p… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19335&Typ=Pat" title="Progressive supranuclear palsy-progressive non-fluent aphasia syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Progressive supranuclear p… </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><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14323&Typ=Pat" title="Atypical progressive supranuclear palsy syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Atypical progressive supra… </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9092" 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=260540[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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=240085" title="Progressive supranuclear palsy-predominant parkinsonism syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Progressive supranuclear p…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=240094" title="Progressive supranuclear palsy-pure akinesia with gait freezing syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Progressive supranuclear p…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=240103" title="Progressive supranuclear palsy-corticobasal syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Progressive supranuclear p…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=240112" title="Progressive supranuclear palsy-progressive non-fluent aphasia syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Progressive supranuclear p…</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><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99750" title="Atypical progressive supranuclear palsy syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Atypical progressive supra…</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 240085, 240094, 240103, 240112, 683, 99750<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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260540
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</span>
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</span>
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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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PARKINSON-DEMENTIA SYNDROME
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Other entities represented in this entry:
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</p>
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<div>
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<span class="h3 mim-font">
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SUPRANUCLEAR PALSY, PROGRESSIVE, 1, ATYPICAL, INCLUDED
|
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<div>
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<span class="h4 mim-font">
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STEELE-RICHARDSON-OLSZEWSKI SYNDROME, ATYPICAL, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</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/17/663?start=-3&limit=10&highlight=663">
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17q21.31
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Supranuclear palsy, progressive atypical
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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/260540"> 260540 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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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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<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>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/260540" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/260540" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/260540" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> Neuro </strong>
|
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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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- 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 /> - Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> - 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 /> - Dementia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> - Ophthalmoparesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751401</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000597" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000597</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000597" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000597</a>]</span><br /> - Pyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14648003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14648003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Skel </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Kyphoscoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>]</span><br />
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</span>
|
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</div>
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|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Misc </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Onset in third decade<br />
|
|
|
|
</span>
|
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</div>
|
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|
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</div>
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Lab </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neurofibrillary degeneration of the hippocampus, basal ganglia and brainstem nuclei<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> Inheritance </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive vs. dominant with low penetrance and expression<br />
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|
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</span>
|
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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</div>
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<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 a form of atypical supranuclear palsy is caused by mutation in the microtubule-associated protein tau gene (MAPT; <a href="/entry/157140">157140</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="#1" class="mim-tip-reference" title="Mata, M., Dorovini-Zis, K., Wilson, M., Young, A. B. <strong>New form of familial Parkinson-dementia syndrome: clinical and pathologic findings.</strong> Neurology 33: 1439-1443, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6685236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6685236</a>] [<a href="https://doi.org/10.1212/wnl.33.11.1439" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6685236">Mata et al. (1983)</a> described 2 brothers and a sister with a 'new' Parkinson-dementia syndrome. The disorder, characterized also by ophthalmoparesis and pyramidal signs, came on in the third decade and progressed for several years. Kyphoscoliosis was present in all 3 sibs. Examination of the brain in the sister, who died at age 31 years, showed neurofibrillary degeneration of the hippocampus, basal ganglia and brainstem nuclei. The parents were not related. The authors suggested that the disorder most closely resembled the Parkinson-dementia complex of Guam (<a href="/entry/105500">105500</a>) but could be distinguished by the lack of Chamorro descent (a dubious argument) and the earlier age of onset. The legend for the pedigree presented as Figure 1 stated that the father and a cousin of his were 'neurologically affected' and the authors' concluding statement was as follows: 'Although the mode of inheritance of this disease appears to be autosomal dominant with low penetrance and expression, an autosomal recessive cannot be ruled out.' No information is in fact given on the father and his cousin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6685236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Ohara, S., Kondo, K., Morita, H., Maruyama, K., Ikeda, S., Yanagisawa, N. <strong>Progressive supranuclear palsy-like syndrome in two siblings of a consanguineous marriage.</strong> Neurology 42: 1009-1014, 1994."None>Ohara et al. (1994)</a> described 2 of 5 sibs of first-cousin parents of Japanese descent who developed vertical ophthalmoparesis, dementia, a parkinsonian syndrome, jaw tremor, and bradykinesia. Both sibs had a poor response to levodopa. The authors referred to this syndrome as a progressive supranuclear palsy-like syndrome. Progressive supranuclear palsy (PSNP; <a href="/entry/601104">601104</a>), also known as Steele-Richardson-Olszewski syndrome, is a sporadic disorder of adult onset with supranuclear palsy of vertical gaze, followed by proximal rigidity and dementia. There are no Lewy bodies as in Parkinson disease, but there are large numbers of neurofibrillary tangles. The sibs described by <a href="#2" class="mim-tip-reference" title="Ohara, S., Kondo, K., Morita, H., Maruyama, K., Ikeda, S., Yanagisawa, N. <strong>Progressive supranuclear palsy-like syndrome in two siblings of a consanguineous marriage.</strong> Neurology 42: 1009-1014, 1994."None>Ohara et al. (1994)</a> had no Lewy bodies, but did have widespread distribution of neurofibrillary tangles in a pattern more reminiscent of Alzheimer disease than of classic Steele-Richardson-Olszewski syndrome. Unlike Alzheimer disease, however, there were no senile plaques either by conventional or by immunostaining procedures. Also unlike patients with classic Steele-Richardson-Olszewski syndrome, the affected sibs stooped forward rather than having their head in an opisthotonic position, a distinctive feature in the sporadic disorder.</p><p><a href="#3" class="mim-tip-reference" title="Pastor, P., Pastor, E., Carnero, C., Vela, R., Garcia, T., Amer, G., Tolosa, E., Oliva, R. <strong>Familial atypical progressive supranuclear palsy associated with homozygosity for the delN296 mutation in the tau gene.</strong> Ann. Neurol. 49: 263-267, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11220749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11220749</a>] [<a href="https://doi.org/10.1002/1531-8249(20010201)49:2<263::aid-ana50>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11220749">Pastor et al. (2001)</a> reported 2 Spanish brothers with atypical supranuclear palsy who were born from a third-degree consanguineous marriage. The proband and his brother demonstrated a remarkably similar phenotype characterized by onset in the late thirties of mild cognitive decline, inappropriate behavior, ocular movement abnormalities, and asymmetric parkinsonism. Both were found to have a homozygous mutation in the MAPT gene (<a href="/entry/157140#0021">157140.0021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11220749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Rossi, G., Gasparoli, E., Pasquali, C., Di Fede, G., Testa, D., Albanese, A., Bracco, F., Tagliavini, F. <strong>Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. (Letter)</strong> Ann. Neurol. 55: 448 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991829</a>] [<a href="https://doi.org/10.1002/ana.20006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991829">Rossi et al. (2004)</a> reported a patient who developed antecollis, dysarthria, postural instability with falls, slowing of ocular movements, and increased deep tendon reflexes at age 36 years, consistent with atypical PSNP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Spanish patient with atypical supranuclear palsy born from a third-degree consanguineous marriage, <a href="#3" class="mim-tip-reference" title="Pastor, P., Pastor, E., Carnero, C., Vela, R., Garcia, T., Amer, G., Tolosa, E., Oliva, R. <strong>Familial atypical progressive supranuclear palsy associated with homozygosity for the delN296 mutation in the tau gene.</strong> Ann. Neurol. 49: 263-267, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11220749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11220749</a>] [<a href="https://doi.org/10.1002/1531-8249(20010201)49:2<263::aid-ana50>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11220749">Pastor et al. (2001)</a> identified a homozygous deletion of asn296 in the MAPT gene (<a href="/entry/157140#0021">157140.0021</a>). Two uncles, who were heterozygous for the mutation, developed late-onset typical Parkinson disease (<a href="/entry/168600">168600</a>). However, there were several asymptomatic heterozygous individuals in the family over the age of 60, which the authors attributed to reduced penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11220749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a family with a variable neurodegenerative phenotype, including a PSNP-like syndrome and parkinsonism, <a href="#4" class="mim-tip-reference" title="Rossi, G., Gasparoli, E., Pasquali, C., Di Fede, G., Testa, D., Albanese, A., Bracco, F., Tagliavini, F. <strong>Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. (Letter)</strong> Ann. Neurol. 55: 448 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991829</a>] [<a href="https://doi.org/10.1002/ana.20006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14991829">Rossi et al. (2004)</a> identified heterozygosity for a deletion of asn296 in the MAPT gene, which was caused by a different nucleotide change than that identified by <a href="#3" class="mim-tip-reference" title="Pastor, P., Pastor, E., Carnero, C., Vela, R., Garcia, T., Amer, G., Tolosa, E., Oliva, R. <strong>Familial atypical progressive supranuclear palsy associated with homozygosity for the delN296 mutation in the tau gene.</strong> Ann. Neurol. 49: 263-267, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11220749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11220749</a>] [<a href="https://doi.org/10.1002/1531-8249(20010201)49:2<263::aid-ana50>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11220749">Pastor et al. (2001)</a>; see <a href="/entry/157140#0021">157140.0021</a>. The mutation was also found in a paternal aunt with typical dopa-responsive Parkinson disease, in 2 asymptomatic sisters of the proband, and in 3 asymptomatic daughters of a deceased paternal uncle who had atypical dopa-unresponsive Parkinson disease with pyramidal signs and cognitive impairment. The authors suggested incomplete penetrance of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11220749+14991829" 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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Mata, M., Dorovini-Zis, K., Wilson, M., Young, A. B.
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<strong>New form of familial Parkinson-dementia syndrome: clinical and pathologic findings.</strong>
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Neurology 33: 1439-1443, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6685236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6685236</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6685236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ohara, S., Kondo, K., Morita, H., Maruyama, K., Ikeda, S., Yanagisawa, N.
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<strong>Progressive supranuclear palsy-like syndrome in two siblings of a consanguineous marriage.</strong>
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Neurology 42: 1009-1014, 1994.
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Pastor, P., Pastor, E., Carnero, C., Vela, R., Garcia, T., Amer, G., Tolosa, E., Oliva, R.
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<strong>Familial atypical progressive supranuclear palsy associated with homozygosity for the delN296 mutation in the tau gene.</strong>
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Ann. Neurol. 49: 263-267, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11220749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11220749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11220749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1531-8249(20010201)49:2<263::aid-ana50>3.0.co;2-k" target="_blank">Full Text</a>]
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Rossi, G., Gasparoli, E., Pasquali, C., Di Fede, G., Testa, D., Albanese, A., Bracco, F., Tagliavini, F.
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<strong>Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. (Letter)</strong>
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Ann. Neurol. 55: 448 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14991829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14991829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14991829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.20006" target="_blank">Full Text</a>]
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alopez : 09/16/2016<br>carol : 04/14/2011<br>terry : 3/3/2005<br>carol : 6/14/2004<br>carol : 6/10/2004<br>ckniffin : 6/8/2004<br>carol : 2/25/2003<br>ckniffin : 2/11/2003<br>terry : 6/3/1998<br>carol : 10/14/1994<br>mimadm : 3/11/1994<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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<strong>ORPHA:</strong> 240085, 240094, 240103, 240112, 683, 99750;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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17q21.31
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</td>
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<span class="mim-font">
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Supranuclear palsy, progressive atypical
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<span class="mim-font">
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260540
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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MAPT
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<span class="mim-font">
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157140
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that a form of atypical supranuclear palsy is caused by mutation in the microtubule-associated protein tau gene (MAPT; 157140).</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<p>Mata et al. (1983) described 2 brothers and a sister with a 'new' Parkinson-dementia syndrome. The disorder, characterized also by ophthalmoparesis and pyramidal signs, came on in the third decade and progressed for several years. Kyphoscoliosis was present in all 3 sibs. Examination of the brain in the sister, who died at age 31 years, showed neurofibrillary degeneration of the hippocampus, basal ganglia and brainstem nuclei. The parents were not related. The authors suggested that the disorder most closely resembled the Parkinson-dementia complex of Guam (105500) but could be distinguished by the lack of Chamorro descent (a dubious argument) and the earlier age of onset. The legend for the pedigree presented as Figure 1 stated that the father and a cousin of his were 'neurologically affected' and the authors' concluding statement was as follows: 'Although the mode of inheritance of this disease appears to be autosomal dominant with low penetrance and expression, an autosomal recessive cannot be ruled out.' No information is in fact given on the father and his cousin. </p><p>Ohara et al. (1994) described 2 of 5 sibs of first-cousin parents of Japanese descent who developed vertical ophthalmoparesis, dementia, a parkinsonian syndrome, jaw tremor, and bradykinesia. Both sibs had a poor response to levodopa. The authors referred to this syndrome as a progressive supranuclear palsy-like syndrome. Progressive supranuclear palsy (PSNP; 601104), also known as Steele-Richardson-Olszewski syndrome, is a sporadic disorder of adult onset with supranuclear palsy of vertical gaze, followed by proximal rigidity and dementia. There are no Lewy bodies as in Parkinson disease, but there are large numbers of neurofibrillary tangles. The sibs described by Ohara et al. (1994) had no Lewy bodies, but did have widespread distribution of neurofibrillary tangles in a pattern more reminiscent of Alzheimer disease than of classic Steele-Richardson-Olszewski syndrome. Unlike Alzheimer disease, however, there were no senile plaques either by conventional or by immunostaining procedures. Also unlike patients with classic Steele-Richardson-Olszewski syndrome, the affected sibs stooped forward rather than having their head in an opisthotonic position, a distinctive feature in the sporadic disorder.</p><p>Pastor et al. (2001) reported 2 Spanish brothers with atypical supranuclear palsy who were born from a third-degree consanguineous marriage. The proband and his brother demonstrated a remarkably similar phenotype characterized by onset in the late thirties of mild cognitive decline, inappropriate behavior, ocular movement abnormalities, and asymmetric parkinsonism. Both were found to have a homozygous mutation in the MAPT gene (157140.0021). </p><p>Rossi et al. (2004) reported a patient who developed antecollis, dysarthria, postural instability with falls, slowing of ocular movements, and increased deep tendon reflexes at age 36 years, consistent with atypical PSNP. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>In a Spanish patient with atypical supranuclear palsy born from a third-degree consanguineous marriage, Pastor et al. (2001) identified a homozygous deletion of asn296 in the MAPT gene (157140.0021). Two uncles, who were heterozygous for the mutation, developed late-onset typical Parkinson disease (168600). However, there were several asymptomatic heterozygous individuals in the family over the age of 60, which the authors attributed to reduced penetrance. </p><p>In a family with a variable neurodegenerative phenotype, including a PSNP-like syndrome and parkinsonism, Rossi et al. (2004) identified heterozygosity for a deletion of asn296 in the MAPT gene, which was caused by a different nucleotide change than that identified by Pastor et al. (2001); see 157140.0021. The mutation was also found in a paternal aunt with typical dopa-responsive Parkinson disease, in 2 asymptomatic sisters of the proband, and in 3 asymptomatic daughters of a deceased paternal uncle who had atypical dopa-unresponsive Parkinson disease with pyramidal signs and cognitive impairment. The authors suggested incomplete penetrance of the disorder. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Mata, M., Dorovini-Zis, K., Wilson, M., Young, A. B.
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<strong>New form of familial Parkinson-dementia syndrome: clinical and pathologic findings.</strong>
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Neurology 33: 1439-1443, 1983.
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[PubMed: 6685236]
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[Full Text: https://doi.org/10.1212/wnl.33.11.1439]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ohara, S., Kondo, K., Morita, H., Maruyama, K., Ikeda, S., Yanagisawa, N.
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<strong>Progressive supranuclear palsy-like syndrome in two siblings of a consanguineous marriage.</strong>
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Neurology 42: 1009-1014, 1994.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Pastor, P., Pastor, E., Carnero, C., Vela, R., Garcia, T., Amer, G., Tolosa, E., Oliva, R.
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<strong>Familial atypical progressive supranuclear palsy associated with homozygosity for the delN296 mutation in the tau gene.</strong>
|
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Ann. Neurol. 49: 263-267, 2001.
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[PubMed: 11220749]
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[Full Text: https://doi.org/10.1002/1531-8249(20010201)49:2<263::aid-ana50>3.0.co;2-k]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rossi, G., Gasparoli, E., Pasquali, C., Di Fede, G., Testa, D., Albanese, A., Bracco, F., Tagliavini, F.
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<strong>Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. (Letter)</strong>
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Ann. Neurol. 55: 448 only, 2004.
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[PubMed: 14991829]
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[Full Text: https://doi.org/10.1002/ana.20006]
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</p>
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</ol>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/8/2004<br>Cassandra L. Kniffin - updated : 2/11/2003
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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Edit History:
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carol : 09/11/2024<br>alopez : 09/16/2016<br>carol : 04/14/2011<br>terry : 3/3/2005<br>carol : 6/14/2004<br>carol : 6/10/2004<br>ckniffin : 6/8/2004<br>carol : 2/25/2003<br>ckniffin : 2/11/2003<br>terry : 6/3/1998<br>carol : 10/14/1994<br>mimadm : 3/11/1994<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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