3279 lines
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Entry
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- #172700 - PICK DISEASE OF BRAIN
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- OMIM
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<p>
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<span class="h4">#172700</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/172700"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<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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</div>
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</a>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=PICK DISEASE OF BRAIN" 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=14642&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Semantic dementia </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14643&Typ=Pat" title="Progressive non-fluent aphasia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Progressive non-fluent aph… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=20340&Typ=Pat" title="Behavioral variant of frontotemporal dementia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Behavioral variant of fron… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3338&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Frontotemporal dementia </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/5741" 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=172700[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=100069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Semantic dementia</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100070" title="Progressive non-fluent aphasia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Progressive non-fluent aph…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275864" title="Behavioral variant of frontotemporal dementia" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Behavioral variant of fron…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Frontotemporal dementia</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:11870" 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/172700" 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:11870" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="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>
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</a>
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</span>
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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:172700" 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>
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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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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<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>ICD10CM:</strong> G31.01<br />
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<strong>ICD9CM:</strong> 331.11<br />
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<strong>ORPHA:</strong> 100069, 100070, 275864, 282<br />
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<strong>DO:</strong> 11870<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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172700
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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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PICK DISEASE OF BRAIN
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
LOBAR ATROPHY OF BRAIN<br />
|
|
DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS
|
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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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|
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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/14/361?start=-3&limit=10&highlight=361">
|
|
14q24.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pick disease
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172700"> 172700 </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">
|
|
PSEN1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/104311"> 104311 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<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">
|
|
Pick disease
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/172700"> 172700 </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>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/172700" 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">
|
|
<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/172700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/172700" 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> 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">
|
|
|
|
- Frontotemporal dementia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230270009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230270009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G31.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G31.01</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G31.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G31.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/331.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">331.11</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/331.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">331.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338451&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338451</a>, <a href="https://bioportal.bioontology.org/search?q=C0236642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0236642</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002145" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002145</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002145" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002145</a>]</span><br /> -
|
|
Language impairment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62305002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62305002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F80.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023015</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002463</a>]</span><br /> -
|
|
Frontotemporal lobar atrophy with 'knife-edge' distinction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868312</a>]</span><br /> -
|
|
Atrophy may be more severe in the left hemisphere <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868313&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868313</a>]</span><br /> -
|
|
Primitive reflexes (palmomental, snout, glabellar) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838319&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838319</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002476</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246570002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246570002</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002476</a>]</span><br /> -
|
|
Argyrophilic hyperphosphorylated tau-positive inclusions (Pick bodies) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868314&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868314</a>]</span><br /> -
|
|
Swollen achromatic cells (Pick cells) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868315</a>]</span><br /> -
|
|
Pick bodies found in neocortical layers, granule cells of the dentate gyrus, and throughout the hippocampus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868316&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868316</a>]</span><br /> -
|
|
Neuronal loss <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850496&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850496</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002529</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002529</a>]</span><br /> -
|
|
Astrogliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <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> HPO: <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><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Personality changes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192073007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192073007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/102943000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">102943000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240735</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000751</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000751</a>]</span><br /> -
|
|
Lack of motivation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/277521002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">277521002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456814&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456814</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000745</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000745</a>]</span><br /> -
|
|
Emotional blunting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6140007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6140007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233469</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030213</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030213</a>]</span><br /> -
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Inappropriate laughter <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247985007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247985007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424304</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000748</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000748</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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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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Disinhibition <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247977003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247977003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66347000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66347000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40662008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40662008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F63.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/312.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">312.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021122&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021122</a>, <a href="https://bioportal.bioontology.org/search?q=C0234410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234410</a>, <a href="https://bioportal.bioontology.org/search?q=C0424296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424296</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:5200029" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:5200029</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000734</a>]</span><br /> -
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Hyperphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58424009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58424009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267023007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267023007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020505</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002591</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002591</a>]</span><br /> -
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Hyperoralia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838320&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838320</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000710" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000710</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000710" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000710</a>]</span><br /> -
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Perseveration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44515000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44515000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233651</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030223</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030223</a>]</span><br /> -
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Stereotyped behavior <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84328007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84328007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038271&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038271</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000733</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000733" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000733</a>]</span><br /> -
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Echolalia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64712007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64712007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010529</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010529</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Phenotypic overlap with frontotemporal dementia (<a href="/entry/600274">600274</a>)<br />
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the microtubule-associated tau protein gene (MAPT, <a href="/entry/157140#0011">157140.0011</a>)<br /> -
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Caused by mutation in the presenilin-1 gene (PSEN1, <a href="/entry/104311#0027">104311.0027</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Pick disease, which belongs to a class of neurodegenerative disorders known as frontotemporal dementias (FTD; see <a href="/entry/600274">600274</a>), can be caused by heterozygous mutation in the MAPT gene (<a href="/entry/157140">157140</a>) on chromosome 17q21. Some cases of Pick disease are caused by heterozygous mutation in the presenilin-1 gene (PSEN1; <a href="/entry/104311">104311</a>) on chromosome 14q24.</p>
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<strong>Description</strong>
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<p>Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by <a href="#20" class="mim-tip-reference" title="Piguet, O., Halliday, G. M., Reid, W. G. J., Casey, B., Carman, R., Huang, Y., Xuereb, J. H., Hodges, J. R., Kril, J. J. <strong>Clinical phenotypes in autopsy-confirmed Pick disease.</strong> Neurology 76: 253-259, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21242493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21242493</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318207b1ce" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21242493">Piguet et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21242493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="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 FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (<a href="/entry/601104">601104</a>), 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' 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>
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<p><a href="#16" class="mim-tip-reference" title="Munoz-Garcia, D., Ludwin, S. K. <strong>Classic and generalized variants of Pick's disease: a clinicopathological, ultrastructural, and immunocytochemical comparative study.</strong> Ann. Neurol. 16: 467-480, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6093681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6093681</a>] [<a href="https://doi.org/10.1002/ana.410160408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6093681">Munoz-Garcia and Ludwin (1984)</a> studied 6 sporadic cases of dementia with lobar atrophy and neuronal cytoplasmic inclusions. They recognized 2 types on the basis of involvement of subcortical structures, the distribution and the histochemical, immunochemical and ultrastructural characteristics of the inclusions, and possibly age of onset. No reference to familial occurrence was made. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6093681" 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="Dermaut, B., Kumar-Singh, S., Engelborghs, S., Theuns, J., Rademakers, R., Saerens, J., Pickut, B. A., Peeters, K., van den Broeck, M., Vennekens, K., Claes, S., Cruts, M., Cras, P., Martin, J.-J., Van Broeckhoven, C., De Deyn, P. P. <strong>A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.</strong> Ann. Neurol. 55: 617-626, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122701</a>] [<a href="https://doi.org/10.1002/ana.20083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122701">Dermaut et al. (2004)</a> reported a 54-year-old patient with a 2-year history of personality and behavioral changes, including loss of initiative, apathy, emotional blunting, and frontal disinhibition. Brain MRI showed severe cortical and subcortical atrophy in the frontal and temporal lobes. The disorder progressed until death at age 62 years. Neuropathologic examination showed severe neuronal loss and ovoid tau-positive argyrophilic intraneuronal inclusions consistent with Pick bodies. Beta-amyloid (see APP; <a href="/entry/104760">104760</a>) plaques were not detected. Four sibs were affected; 1 was clearly affected and 3 others showed signs of early-onset cognitive decline. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Piguet, O., Halliday, G. M., Reid, W. G. J., Casey, B., Carman, R., Huang, Y., Xuereb, J. H., Hodges, J. R., Kril, J. J. <strong>Clinical phenotypes in autopsy-confirmed Pick disease.</strong> Neurology 76: 253-259, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21242493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21242493</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318207b1ce" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21242493">Piguet et al. (2011)</a> retrospectively analyzed the clinical features of 21 patients with a neuropathologic diagnosis of Pick disease. None had a family history of the disorder. The age at onset ranged from 42 to 70 years, with a mean of 60. Duration between symptom onset and death also varied between 2 to 16 years, with a mean of 9 years. Six patients survived for over 12 years. At the time of presentation, 13 (62%) had a clinical diagnosis of behavioral variant FTD and 8 (38%) had language variant FTD, including 4 with progressive nonfluent aphasia (PNFA), 3 with semantic dementia, and 1 with global aphasic features. Disease duration was significantly longer in those with language variant FTD. Behavioral variant FTD was characterized by variable degrees of executive dysfunction, rigidity, distractibility, perseveration, and memory deficits. Patients with the language variant phenotype showed impaired naming, comprehension, and speech, with rare executive or memory deficits, but most retained cognition and social skills. One patient had visuoconstructive impairment. The behavioral variant group had fewer Pick bodies in the superior frontal and inferior temporal cortices compared to the language variant group. Otherwise, there were no differences in Pick body or neuronal density measures between the groups. However, statistical principal component analysis suggested that the behavioral variant was characterized by overall Pick body density measures, as well as neuronal loss in the dentate gyrus and CA1 region of the hippocampus, whereas the language variant was influenced by decreased Pick body density and neuronal loss in the temporal lobes, as well as neuronal loss in the dentate gyrus. The data suggested that neurons containing Pick bodies are likely targets of neurodegeneration. These 21 patients were ascertained from nearly 250 FTLD cases, indicating that Pick disease is rare. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21242493" 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>Pathologic Findings</em></strong></p><p>
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<a href="#17" class="mim-tip-reference" title="Nakamura, Y., Takeda, M., Yoshimi, K., Hattori, H., Hariguchi, S., Hashimoto, S., Nishimura, T. <strong>Involvement of clathrin light chains in the pathology of Pick's disease: implication for impairment of axonal transport.</strong> Neurosci. Lett. 180: 25-28, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7533277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7533277</a>] [<a href="https://doi.org/10.1016/0304-3940(94)90905-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7533277">Nakamura et al. (1994)</a> used antibody staining to demonstrate the presence of clathrin light chains a and b, as well as neurofilament, kinesin, and synaptophysin, in Pick bodies. They suggested that this indicated impairment of axonal transport. <a href="#24" class="mim-tip-reference" title="Yasuhara, O., Matsuo, A., Tooyama, I., Kimura, H., McGeer, E. G., McGeer, P. L. <strong>Pick's disease immunohistochemistry: new alterations and Alzheimer's disease comparisons.</strong> Acta Neuropath. 89: 322-330, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7610763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7610763</a>] [<a href="https://doi.org/10.1007/BF00309625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7610763">Yasuhara et al. (1995)</a> examined Pick disease brains immunohistochemically for expression of antigens known to be associated with Alzheimer disease (AD; <a href="/entry/104300">104300</a>) lesions and found that most antibodies which label intracellular neurofibrillary tangles in Alzheimer disease were reactive with Pick bodies. In addition, they described 2 glial abnormalities in Pick disease: glial fibrillary tangles and granules of complement protein C4D in the hippocampal dentate fascia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7610763+7533277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Farrer, L. A., Abraham, C. R., Volicer, L., Foley, E. J., Kowall, N. W., McKee, A. C., Wells, J. M. <strong>Allele epsilon-4 of apolipoprotein E shows a dose effect on age at onset of Pick disease.</strong> Exp. Neurol. 136: 162-170, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7498406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7498406</a>] [<a href="https://doi.org/10.1006/exnr.1995.1093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7498406">Farrer et al. (1995)</a> demonstrated that the number of apolipoprotein E (<a href="/entry/107741">107741</a>) epsilon-4 alleles was inversely related to the age at onset of Pick disease. Their results suggested that epsilon-4 may be a susceptibility factor for dementia and not specifically for Alzheimer disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7498406" 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="Dickson, D. W. <strong>Neuropathology of Pick's disease.</strong> Neurology 56 (suppl. 4): S16-S20, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11402145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11402145</a>] [<a href="https://doi.org/10.1212/wnl.56.suppl_4.s16" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11402145">Dickson (2001)</a> reviewed the gross, microscopic, and biochemical pathology associated with what they termed 'classic' Pick disease. Gross findings include circumscribed lobar atrophy, dilated ventricles, and attenuated, soft subcortical white matter. Microscopically, there is loss of large pyramidal neurons in the cortex, diffuse spongiosis, and gliosis. 'Pick cells,' ballooned neurons filled with granulofilamentous material, and 'Pick bodies,' round amphophilic neuronal inclusions, are found in various areas and layers of the cortex. Biochemical analysis has shown that 'Pick bodies' are composed of straight and twisted filaments containing an abnormal form of the tau protein (MAPT; <a href="/entry/157140">157140</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11402145" 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="#25" class="mim-tip-reference" title="Zhukareva, V., Mann, D., Pickering-Brown, S., Uryu, K., Shuck, T., Shah, K., Grossman, M., Miller, B. L., Hulette, C. M., Feinstein, S. C., Trojanowski, J. Q., Lee, V. M.-Y. <strong>Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter.</strong> Ann. Neurol. 51: 730-739, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12112079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12112079</a>] [<a href="https://doi.org/10.1002/ana.10222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12112079">Zhukareva et al. (2002)</a> used biochemical, immunohistochemical, and ultrastructural methods to characterize pathologic tau isoform composition in 14 sporadic Pick disease brains. They found that both the microtubule-binding 3-repeat (3R) and 4-repeat (4R) isoforms are present in gray and white matter of various brain regions, particularly the cortex and hippocampus. Specifically, 7 cases had predominantly pathologic 3R isoforms, 4 cases had a mixture of 3R and 4R isoforms, and 3 cases had primarily 4R isoforms. Isolated tau filaments were primarily straight, although twisted forms were also present. Although the cases shared similar clinical and neuropathologic features, the biochemical profiles of abnormal tau were diverse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12112079" 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="#23" 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 and UBB+1 (UBB; <a href="/entry/191339">191339</a>), within the neuropathologic hallmarks of Alzheimer disease, as well as other MAPT-related dementias, including Pick disease, progressive supranuclear palsy, and less commonly frontotemporal dementia. <a href="#23" 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="#5" class="mim-tip-reference" title="Falcon, B., Zhang, W., Murzin, A. G., Murshudov, G., Garringer, H. J., Vidal, R., Crowther, R. A., Ghetti, B., Scheres, S. H. W., Goedert, M. <strong>Structures of filaments from Pick's disease reveal a novel tau protein fold.</strong> Nature 561: 137-140, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30158706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30158706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30158706[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-018-0454-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30158706">Falcon et al. (2018)</a> determined that tau filaments from patients with Pick disease consist of residues lys254-phe378 of 3R tau, which are folded differently from the tau filaments in Alzheimer disease, establishing the existence of conformers of assembled tau. The observed tau fold in the filaments of patients with Pick disease explains the selective incorporation of 3R tau in Pick bodies, and the differences in phosphorylation relative to the tau filaments of Alzheimer disease. <a href="#5" class="mim-tip-reference" title="Falcon, B., Zhang, W., Murzin, A. G., Murshudov, G., Garringer, H. J., Vidal, R., Crowther, R. A., Ghetti, B., Scheres, S. H. W., Goedert, M. <strong>Structures of filaments from Pick's disease reveal a novel tau protein fold.</strong> Nature 561: 137-140, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30158706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30158706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30158706[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41586-018-0454-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30158706">Falcon et al. (2018)</a> concluded that their findings showed how tau can adopt distinct folds in the human brain in different diseases, an essential step for understanding the formation and propagation of molecular conformers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30158706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#22" class="mim-tip-reference" title="Schenk, V. W. D. <strong>Re-examination of a family with Pick's disease.</strong> Ann. Hum. Genet. 23: 325-333, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14442619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14442619</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1959.tb01476.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14442619">Schenk (1959)</a> followed up on a family with Pick disease (lobar atrophy) originally studied by <a href="#21" class="mim-tip-reference" title="Sanders, J., Schenk, V. W. D., van Veen, P. <strong>A Family with Pick's Disease.</strong> Amsterdam: N. V. Noord-Hollandsche Uitgevers-Maatschappij (pub.) 1939."None>Sanders et al. (1939)</a>. Ten further cases were found in a dominant pattern of inheritance. Another follow-up of this Dutch family was reported by <a href="#7" class="mim-tip-reference" title="Groen, J. J., Endtz, L. J. <strong>Hereditary Pick's disease: second re-examination of a large family and discussion of other hereditary cases, with particular reference to electroencephalography and computerized tomography.</strong> Brain 105: 443-459, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7104662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7104662</a>] [<a href="https://doi.org/10.1093/brain/105.3.443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7104662">Groen and Endtz (1982)</a>. Five new cases were found, 1 in the fourth and 4 in the fifth generation. The kindred then included 25 persons with the clinical diagnosis of Pick disease, autopsy proven in 14, and 7 additional persons in whom the diagnosis was considered likely. The affected persons spanned 6 generations. The workers assessed the value of EEG and CT scan in 12 persons at risk but without clinical signs. In 4 of the 12, frontal atrophy was found; in 1 of these, Pick disease became clinically manifest a year after investigation. <a href="#7" class="mim-tip-reference" title="Groen, J. J., Endtz, L. J. <strong>Hereditary Pick's disease: second re-examination of a large family and discussion of other hereditary cases, with particular reference to electroencephalography and computerized tomography.</strong> Brain 105: 443-459, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7104662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7104662</a>] [<a href="https://doi.org/10.1093/brain/105.3.443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7104662">Groen and Endtz (1982)</a> discussed other reports of families with the disease in 2 or more generations and unpublished observations on 3 other families. <a href="#10" class="mim-tip-reference" title="Heutink, P., Stevens, M., Rizzu, P., Bakker, E., Kros, J. M., Tibben, A., Niermeijer, M. F., van Duijn, C. M., Oostra, B. A., van Swieten, J. C. <strong>Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families.</strong> Ann. Neurol. 41: 150-159, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9029063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9029063</a>] [<a href="https://doi.org/10.1002/ana.410410205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9029063">Heutink et al. (1997)</a> contended that the family studied by <a href="#21" class="mim-tip-reference" title="Sanders, J., Schenk, V. W. D., van Veen, P. <strong>A Family with Pick's Disease.</strong> Amsterdam: N. V. Noord-Hollandsche Uitgevers-Maatschappij (pub.) 1939."None>Sanders et al. (1939)</a>, <a href="#22" class="mim-tip-reference" title="Schenk, V. W. D. <strong>Re-examination of a family with Pick's disease.</strong> Ann. Hum. Genet. 23: 325-333, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14442619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14442619</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1959.tb01476.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14442619">Schenk (1959)</a>, and <a href="#7" class="mim-tip-reference" title="Groen, J. J., Endtz, L. J. <strong>Hereditary Pick's disease: second re-examination of a large family and discussion of other hereditary cases, with particular reference to electroencephalography and computerized tomography.</strong> Brain 105: 443-459, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7104662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7104662</a>] [<a href="https://doi.org/10.1093/brain/105.3.443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7104662">Groen and Endtz (1982)</a> should not be considered a case of hereditary Pick disease since there were no histopathologically demonstrated Pick bodies in any of the autopsy specimens from this family. These families were later characterized as having frontotemporal dementia (<a href="#11" 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>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7104662+9641683+14442619+9029063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#15" class="mim-tip-reference" title="Morris, J. C., Cole, M., Banker, B. Q., Wright, D. <strong>Hereditary dysphasic dementia and the Pick-Alzheimer spectrum.</strong> Ann. Neurol. 16: 455-466, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6497355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6497355</a>] [<a href="https://doi.org/10.1002/ana.410160407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6497355">Morris et al. (1984)</a> pointed out that Alzheimer and Pick diseases cannot be consistently differentiated on clinical grounds alone and presumptive diagnosis must be secured by postmortem examination. The neuropathologic separation is usually not difficult because Alzheimer disease is characterized by diffuse cerebral atrophy with neuritic plaques and neurofibrillary tangles, whereas Pick disease manifests lobar or circumscribed atrophy, Pick cells, and Pick inclusion bodies in the absence of plaques and tangles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6497355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Heutink, P., Stevens, M., Rizzu, P., Bakker, E., Kros, J. M., Tibben, A., Niermeijer, M. F., van Duijn, C. M., Oostra, B. A., van Swieten, J. C. <strong>Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families.</strong> Ann. Neurol. 41: 150-159, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9029063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9029063</a>] [<a href="https://doi.org/10.1002/ana.410410205" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9029063">Heutink et al. (1997)</a> considered the large Dutch family reported by <a href="#21" class="mim-tip-reference" title="Sanders, J., Schenk, V. W. D., van Veen, P. <strong>A Family with Pick's Disease.</strong> Amsterdam: N. V. Noord-Hollandsche Uitgevers-Maatschappij (pub.) 1939."None>Sanders et al. (1939)</a>, <a href="#22" class="mim-tip-reference" title="Schenk, V. W. D. <strong>Re-examination of a family with Pick's disease.</strong> Ann. Hum. Genet. 23: 325-333, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14442619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14442619</a>] [<a href="https://doi.org/10.1111/j.1469-1809.1959.tb01476.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14442619">Schenk (1959)</a>, and <a href="#7" class="mim-tip-reference" title="Groen, J. J., Endtz, L. J. <strong>Hereditary Pick's disease: second re-examination of a large family and discussion of other hereditary cases, with particular reference to electroencephalography and computerized tomography.</strong> Brain 105: 443-459, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7104662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7104662</a>] [<a href="https://doi.org/10.1093/brain/105.3.443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7104662">Groen and Endtz (1982)</a> to have hereditary frontotemporal dementia, with linkage to markers on chromosome 17q21-q22. Indeed, they pointed out that Pick disease may be considered a subtype of the larger category of frontotemporal atrophies that is distinguished by the histologic presence of Pick bodies. They further noted that varying degrees of frontal lobe atrophy are present in all cases of disinhibition-dementia-parkinsonism-amyotrophy complex (<a href="/entry/600274">600274</a>) and progressive subcortical gliosis of Neumann (<a href="/entry/221820">221820</a>), both of which also show linkage to markers on 17q21-q22 and may be allelic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7104662+14442619+9029063" 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="Collinge, J., Palmer, M. S., Sidle, K. C. L., Mahal, S. P., Campbell, T., Brown, J., Hardy, J., Brun, A. E., Gustafson, L., Bakker, E., Roos, R., Groen, J. J. <strong>Familial Pick's disease and dementia in frontal lobe degeneration of non-Alzheimer type are not variants of prion disease. (Letter)</strong> J. Neurol. Neurosurg. Psychiat. 57: 762-768, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8006666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8006666</a>] [<a href="https://doi.org/10.1136/jnnp.57.6.762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8006666">Collinge et al. (1994)</a> explored the possibility that both Pick disease and dementia in frontal lobe degeneration of non-Alzheimer type (FLD) might be variants of prion disease. In the family reported by <a href="#7" class="mim-tip-reference" title="Groen, J. J., Endtz, L. J. <strong>Hereditary Pick's disease: second re-examination of a large family and discussion of other hereditary cases, with particular reference to electroencephalography and computerized tomography.</strong> Brain 105: 443-459, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7104662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7104662</a>] [<a href="https://doi.org/10.1093/brain/105.3.443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7104662">Groen and Endtz (1982)</a> they could find no evidence of mutations in the prion gene (<a href="/entry/176640">176640</a>). The same was true in a Swedish family with FLD (previously reported by <a href="#9" class="mim-tip-reference" title="Gustafson, L. <strong>Frontal lobe degeneration of non-Alzheimer type. II: Clinical picture and differential diagnosis.</strong> Arch. Gerontol. Geriat. 6: 209-223, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3689054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3689054</a>] [<a href="https://doi.org/10.1016/0167-4943(87)90022-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3689054">Gustafson (1987)</a> and <a href="#1" class="mim-tip-reference" title="Brun, A. <strong>Frontal lobe degeneration of non-Alzheimer type. I. Neuropathology.</strong> Arch. Gerontol. Geriat. 6: 193-208, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3689053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3689053</a>] [<a href="https://doi.org/10.1016/0167-4943(87)90021-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3689053">Brun (1987)</a>); 10 members of 3 generations were affected similarly with deterioration in personality and behavior, lack of concern, and disinhibition. Later there were changes in speech with stereotyped phrases and echolalia. Three neuropathologically studied cases showed gross frontal atrophy with neuronal loss and gliosis of the superficial frontal cortical layers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7104662+3689053+8006666+3689054" 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>Of 30 cases of pathologically confirmed Pick disease, <a href="#19" class="mim-tip-reference" title="Pickering-Brown, S., Baker, M., Yen, S.-H., Liu, W.-K., Hasegawa, M., Cairns, N., Lantos, P. L., Rossor, M., Iwatsubo, T., Davies, Y., Allsop, D., Furlong, R., Owen, F., Hardy, J., Mann, D., Hutton, M. <strong>Pick's disease is associated with mutations in the tau gene.</strong> Ann. Neurol. 48: 859-867, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11117542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11117542</a>]" pmid="11117542">Pickering-Brown et al. (2000)</a> identified 2 mutations in the tau gene in 2 unrelated patients: G389R (<a href="/entry/157140#0011">157140.0011</a>) and K257T (<a href="/entry/157140#0014">157140.0014</a>). The patient with the G389R mutation showed a decline in intellectual ability with forgetfulness, aggression, and a decline in personal hygiene at age 32, which progressed to death by age 37. Pathologic examination of both cases showed severe atrophy and neuronal loss in the frontal cortex with many tau-immunoreactive neuronal inclusions. In vitro, the G389R mutation reduced the ability of tau to promote microtubule assembly by 25 to 30%, and the K257T mutation reduced the ability of tau to promote microtubule assembly by 70%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11117542" 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 patient with Pick disease characterized clinically by onset at age 52 of rapidly progressing decline of cognitive and behavioral abilities, and pathologically by severe temporal atrophy and the presence of Pick inclusion bodies and Pick cells, <a href="#18" class="mim-tip-reference" title="Neumann, M., Schulz-Schaeffer, W., Crowther, R. A., Smith, M. J., Spillantini, M. G., Goedert, M., Kretzschmar, H. A. <strong>Pick's disease associated with the novel tau gene mutation K369I.</strong> Ann. Neurol. 50: 503-513, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11601501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11601501</a>] [<a href="https://doi.org/10.1002/ana.1223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11601501">Neumann et al. (2001)</a> identified a mutation in exon 12 of the MAPT gene (K369I; <a href="/entry/157140#0015">157140.0015</a>). The K369I mutation led to a 90% reduction in the rate of microtubule assembly, and the authors suggested that free mutant tau may assemble abnormally, leading to pathologic changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11601501" 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 34 cases of pathologically confirmed classic Pick disease, <a href="#14" class="mim-tip-reference" title="Morris, H. R., Baker, M., Yasojima, K., Houlden, H., Khan, M. N., Wood, N. W., Hardy, J., Grossman, M., Trojanowski, J., Revesz, T., Bigio, E. H., Bergeron, C., Janssen, J. C., McGeer, P. L., Rossor, M. N., Lees, A. J., Lantos, P. L., Hutton, M. <strong>Analysis of tau haplotypes in Pick's disease.</strong> Neurology 59: 443-445, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12177383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12177383</a>] [<a href="https://doi.org/10.1212/wnl.59.3.443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12177383">Morris et al. (2002)</a> found no difference between tau H2 haplotype or H2/H2 genotype frequencies compared to 215 controls. In the 22 cases in which the full tau sequence was analyzed, no mutations in the tau gene were found, leading the authors to conclude that 'in general, Pick disease is a sporadic condition that is not due to tau mutations.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12177383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a family with Pick disease, <a href="#3" class="mim-tip-reference" title="Dermaut, B., Kumar-Singh, S., Engelborghs, S., Theuns, J., Rademakers, R., Saerens, J., Pickut, B. A., Peeters, K., van den Broeck, M., Vennekens, K., Claes, S., Cruts, M., Cras, P., Martin, J.-J., Van Broeckhoven, C., De Deyn, P. P. <strong>A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.</strong> Ann. Neurol. 55: 617-626, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122701</a>] [<a href="https://doi.org/10.1002/ana.20083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122701">Dermaut et al. (2004)</a> identified a mutation in the PSEN1 gene (<a href="/entry/104311#0027">104311.0027</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="Lee, V. M.-Y., Trojanowski, J. Q. <strong>Transgenic mouse models of tauopathies: prospects for animal models of Pick's disease.</strong> Neurology 56 (suppl. 4): S26-S30, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11402147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11402147</a>] [<a href="https://doi.org/10.1212/wnl.56.suppl_4.s26" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11402147">Lee and Trojanowski (2001)</a> generated transgenic mice that overexpressed the shortest human brain tau isoform in CNS neurons. The mice developed age-dependent accumulations of neuronal filamentous tau inclusions accompanied by neurodegeneration, gliosis, and tau protein abnormalities similar to human tauopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11402147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Grunthal1930" class="mim-tip-reference" title="Grunthal, E. <strong>Ueber ein Bruderpaar mit pickscher Krankheit.</strong> Ztschr. ges. Neurol. Psychiat. 129: 350-375, 1930.">Grunthal (1930)</a>
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Pickering-Brown, S., Baker, M., Yen, S.-H., Liu, W.-K., Hasegawa, M., Cairns, N., Lantos, P. L., Rossor, M., Iwatsubo, T., Davies, Y., Allsop, D., Furlong, R., Owen, F., Hardy, J., Mann, D., Hutton, M.
|
|
<strong>Pick's disease is associated with mutations in the tau gene.</strong>
|
|
Ann. Neurol. 48: 859-867, 2000.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11117542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11117542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11117542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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="20" class="mim-anchor"></a>
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<a id="Piguet2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Piguet, O., Halliday, G. M., Reid, W. G. J., Casey, B., Carman, R., Huang, Y., Xuereb, J. H., Hodges, J. R., Kril, J. J.
|
|
<strong>Clinical phenotypes in autopsy-confirmed Pick disease.</strong>
|
|
Neurology 76: 253-259, 2011.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21242493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21242493</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21242493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e318207b1ce" 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="21" class="mim-anchor"></a>
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<a id="Sanders1939" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Sanders, J., Schenk, V. W. D., van Veen, P.
|
|
<strong>A Family with Pick's Disease.</strong>
|
|
Amsterdam: N. V. Noord-Hollandsche Uitgevers-Maatschappij (pub.) 1939.
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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="22" class="mim-anchor"></a>
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<a id="Schenk1959" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Schenk, V. W. D.
|
|
<strong>Re-examination of a family with Pick's disease.</strong>
|
|
Ann. Hum. Genet. 23: 325-333, 1959.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14442619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14442619</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14442619" 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/10.1111/j.1469-1809.1959.tb01476.x" 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="23" 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">
|
|
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.
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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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</li>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Yasuhara1995" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Yasuhara, O., Matsuo, A., Tooyama, I., Kimura, H., McGeer, E. G., McGeer, P. L.
|
|
<strong>Pick's disease immunohistochemistry: new alterations and Alzheimer's disease comparisons.</strong>
|
|
Acta Neuropath. 89: 322-330, 1995.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7610763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7610763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7610763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00309625" 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="25" class="mim-anchor"></a>
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<a id="Zhukareva2002" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Zhukareva, V., Mann, D., Pickering-Brown, S., Uryu, K., Shuck, T., Shah, K., Grossman, M., Miller, B. L., Hulette, C. M., Feinstein, S. C., Trojanowski, J. Q., Lee, V. M.-Y.
|
|
<strong>Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter.</strong>
|
|
Ann. Neurol. 51: 730-739, 2002.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12112079/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12112079</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12112079" 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.10222" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<div>
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<a id="contributors" 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="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Ada Hamosh - updated : 11/19/2018
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</span>
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</div>
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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 : 11/14/2011<br>Cassandra L. Kniffin - updated : 4/18/2006<br>Cassandra L. Kniffin - updated : 8/9/2004<br>Cassandra L. Kniffin - updated : 6/9/2004<br>Cassandra L. Kniffin - updated : 9/6/2002<br>Cassandra L. Kniffin - reorganized : 8/7/2002<br>Cassandra L. Kniffin - updated : 7/25/2002<br>Victor A. McKusick - updated : 6/29/1998<br>Orest Hurko - updated : 4/7/1998<br>Orest Hurko - updated : 5/8/1996<br>Orest Hurko - updated : 6/13/1995
|
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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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<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>
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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 : 6/2/1986
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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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<a id="editHistory" 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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 08/23/2024
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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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alopez : 11/19/2018<br>carol : 02/14/2018<br>carol : 11/16/2011<br>ckniffin : 11/14/2011<br>wwang : 4/24/2006<br>ckniffin : 4/18/2006<br>tkritzer : 8/17/2004<br>ckniffin : 8/9/2004<br>carol : 6/11/2004<br>ckniffin : 6/9/2004<br>carol : 10/21/2002<br>ckniffin : 10/4/2002<br>carol : 9/9/2002<br>ckniffin : 9/6/2002<br>ckniffin : 9/6/2002<br>carol : 8/7/2002<br>ckniffin : 7/25/2002<br>ckniffin : 7/25/2002<br>ckniffin : 6/6/2002<br>alopez : 1/8/2001<br>carol : 6/29/1998<br>terry : 6/29/1998<br>carol : 5/20/1998<br>terry : 4/7/1998<br>terry : 4/7/1998<br>mark : 5/8/1996<br>mark : 5/8/1996<br>carol : 3/2/1995<br>mimadm : 1/14/1995<br>terry : 8/30/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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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> 172700
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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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|
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PICK DISEASE OF BRAIN
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
LOBAR ATROPHY OF BRAIN<br />
|
|
DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS
|
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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>ICD10CM:</strong> G31.01;
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|
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|
|
<strong>ICD9CM:</strong> 331.11;
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|
|
<strong>ORPHA:</strong> 100069, 100070, 275864, 282;
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<strong>DO:</strong> 11870;
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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">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed 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>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
14q24.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Pick disease
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
172700
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
PSEN1
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
104311
|
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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">
|
|
17q21.31
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Pick disease
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
172700
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MAPT
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
157140
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
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</tbody>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because Pick disease, which belongs to a class of neurodegenerative disorders known as frontotemporal dementias (FTD; see 600274), can be caused by heterozygous mutation in the MAPT gene (157140) on chromosome 17q21. Some cases of Pick disease are caused by heterozygous mutation in the presenilin-1 gene (PSEN1; 104311) on chromosome 14q24.</p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). </p><p>Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), 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' should be restricted to the pathologic finding of Pick bodies. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
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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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<p>Munoz-Garcia and Ludwin (1984) studied 6 sporadic cases of dementia with lobar atrophy and neuronal cytoplasmic inclusions. They recognized 2 types on the basis of involvement of subcortical structures, the distribution and the histochemical, immunochemical and ultrastructural characteristics of the inclusions, and possibly age of onset. No reference to familial occurrence was made. </p><p>Dermaut et al. (2004) reported a 54-year-old patient with a 2-year history of personality and behavioral changes, including loss of initiative, apathy, emotional blunting, and frontal disinhibition. Brain MRI showed severe cortical and subcortical atrophy in the frontal and temporal lobes. The disorder progressed until death at age 62 years. Neuropathologic examination showed severe neuronal loss and ovoid tau-positive argyrophilic intraneuronal inclusions consistent with Pick bodies. Beta-amyloid (see APP; 104760) plaques were not detected. Four sibs were affected; 1 was clearly affected and 3 others showed signs of early-onset cognitive decline. </p><p>Piguet et al. (2011) retrospectively analyzed the clinical features of 21 patients with a neuropathologic diagnosis of Pick disease. None had a family history of the disorder. The age at onset ranged from 42 to 70 years, with a mean of 60. Duration between symptom onset and death also varied between 2 to 16 years, with a mean of 9 years. Six patients survived for over 12 years. At the time of presentation, 13 (62%) had a clinical diagnosis of behavioral variant FTD and 8 (38%) had language variant FTD, including 4 with progressive nonfluent aphasia (PNFA), 3 with semantic dementia, and 1 with global aphasic features. Disease duration was significantly longer in those with language variant FTD. Behavioral variant FTD was characterized by variable degrees of executive dysfunction, rigidity, distractibility, perseveration, and memory deficits. Patients with the language variant phenotype showed impaired naming, comprehension, and speech, with rare executive or memory deficits, but most retained cognition and social skills. One patient had visuoconstructive impairment. The behavioral variant group had fewer Pick bodies in the superior frontal and inferior temporal cortices compared to the language variant group. Otherwise, there were no differences in Pick body or neuronal density measures between the groups. However, statistical principal component analysis suggested that the behavioral variant was characterized by overall Pick body density measures, as well as neuronal loss in the dentate gyrus and CA1 region of the hippocampus, whereas the language variant was influenced by decreased Pick body density and neuronal loss in the temporal lobes, as well as neuronal loss in the dentate gyrus. The data suggested that neurons containing Pick bodies are likely targets of neurodegeneration. These 21 patients were ascertained from nearly 250 FTLD cases, indicating that Pick disease is rare. </p><p><strong><em>Pathologic Findings</em></strong></p><p>
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Nakamura et al. (1994) used antibody staining to demonstrate the presence of clathrin light chains a and b, as well as neurofilament, kinesin, and synaptophysin, in Pick bodies. They suggested that this indicated impairment of axonal transport. Yasuhara et al. (1995) examined Pick disease brains immunohistochemically for expression of antigens known to be associated with Alzheimer disease (AD; 104300) lesions and found that most antibodies which label intracellular neurofibrillary tangles in Alzheimer disease were reactive with Pick bodies. In addition, they described 2 glial abnormalities in Pick disease: glial fibrillary tangles and granules of complement protein C4D in the hippocampal dentate fascia. </p><p>Farrer et al. (1995) demonstrated that the number of apolipoprotein E (107741) epsilon-4 alleles was inversely related to the age at onset of Pick disease. Their results suggested that epsilon-4 may be a susceptibility factor for dementia and not specifically for Alzheimer disease. </p><p>Dickson (2001) reviewed the gross, microscopic, and biochemical pathology associated with what they termed 'classic' Pick disease. Gross findings include circumscribed lobar atrophy, dilated ventricles, and attenuated, soft subcortical white matter. Microscopically, there is loss of large pyramidal neurons in the cortex, diffuse spongiosis, and gliosis. 'Pick cells,' ballooned neurons filled with granulofilamentous material, and 'Pick bodies,' round amphophilic neuronal inclusions, are found in various areas and layers of the cortex. Biochemical analysis has shown that 'Pick bodies' are composed of straight and twisted filaments containing an abnormal form of the tau protein (MAPT; 157140). </p><p>Zhukareva et al. (2002) used biochemical, immunohistochemical, and ultrastructural methods to characterize pathologic tau isoform composition in 14 sporadic Pick disease brains. They found that both the microtubule-binding 3-repeat (3R) and 4-repeat (4R) isoforms are present in gray and white matter of various brain regions, particularly the cortex and hippocampus. Specifically, 7 cases had predominantly pathologic 3R isoforms, 4 cases had a mixture of 3R and 4R isoforms, and 3 cases had primarily 4R isoforms. Isolated tau filaments were primarily straight, although twisted forms were also present. Although the cases shared similar clinical and neuropathologic features, the biochemical profiles of abnormal tau were diverse. </p><p>Van Leeuwen et al. (2006) detected aberrant frameshifted proteins, APP+1 and UBB+1 (UBB; 191339), within the neuropathologic hallmarks of Alzheimer disease, as well as 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>Falcon et al. (2018) determined that tau filaments from patients with Pick disease consist of residues lys254-phe378 of 3R tau, which are folded differently from the tau filaments in Alzheimer disease, establishing the existence of conformers of assembled tau. The observed tau fold in the filaments of patients with Pick disease explains the selective incorporation of 3R tau in Pick bodies, and the differences in phosphorylation relative to the tau filaments of Alzheimer disease. Falcon et al. (2018) concluded that their findings showed how tau can adopt distinct folds in the human brain in different diseases, an essential step for understanding the formation and propagation of molecular conformers. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Schenk (1959) followed up on a family with Pick disease (lobar atrophy) originally studied by Sanders et al. (1939). Ten further cases were found in a dominant pattern of inheritance. Another follow-up of this Dutch family was reported by Groen and Endtz (1982). Five new cases were found, 1 in the fourth and 4 in the fifth generation. The kindred then included 25 persons with the clinical diagnosis of Pick disease, autopsy proven in 14, and 7 additional persons in whom the diagnosis was considered likely. The affected persons spanned 6 generations. The workers assessed the value of EEG and CT scan in 12 persons at risk but without clinical signs. In 4 of the 12, frontal atrophy was found; in 1 of these, Pick disease became clinically manifest a year after investigation. Groen and Endtz (1982) discussed other reports of families with the disease in 2 or more generations and unpublished observations on 3 other families. Heutink et al. (1997) contended that the family studied by Sanders et al. (1939), Schenk (1959), and Groen and Endtz (1982) should not be considered a case of hereditary Pick disease since there were no histopathologically demonstrated Pick bodies in any of the autopsy specimens from this family. These families were later characterized as having frontotemporal dementia (Hutton et al., 1998). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><strong><em>Differential Diagnosis</em></strong></p><p>
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Morris et al. (1984) pointed out that Alzheimer and Pick diseases cannot be consistently differentiated on clinical grounds alone and presumptive diagnosis must be secured by postmortem examination. The neuropathologic separation is usually not difficult because Alzheimer disease is characterized by diffuse cerebral atrophy with neuritic plaques and neurofibrillary tangles, whereas Pick disease manifests lobar or circumscribed atrophy, Pick cells, and Pick inclusion bodies in the absence of plaques and tangles. </p><p>Heutink et al. (1997) considered the large Dutch family reported by Sanders et al. (1939), Schenk (1959), and Groen and Endtz (1982) to have hereditary frontotemporal dementia, with linkage to markers on chromosome 17q21-q22. Indeed, they pointed out that Pick disease may be considered a subtype of the larger category of frontotemporal atrophies that is distinguished by the histologic presence of Pick bodies. They further noted that varying degrees of frontal lobe atrophy are present in all cases of disinhibition-dementia-parkinsonism-amyotrophy complex (600274) and progressive subcortical gliosis of Neumann (221820), both of which also show linkage to markers on 17q21-q22 and may be allelic disorders. </p><p>Collinge et al. (1994) explored the possibility that both Pick disease and dementia in frontal lobe degeneration of non-Alzheimer type (FLD) might be variants of prion disease. In the family reported by Groen and Endtz (1982) they could find no evidence of mutations in the prion gene (176640). The same was true in a Swedish family with FLD (previously reported by Gustafson (1987) and Brun (1987)); 10 members of 3 generations were affected similarly with deterioration in personality and behavior, lack of concern, and disinhibition. Later there were changes in speech with stereotyped phrases and echolalia. Three neuropathologically studied cases showed gross frontal atrophy with neuronal loss and gliosis of the superficial frontal cortical layers. </p>
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</span>
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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>Of 30 cases of pathologically confirmed Pick disease, Pickering-Brown et al. (2000) identified 2 mutations in the tau gene in 2 unrelated patients: G389R (157140.0011) and K257T (157140.0014). The patient with the G389R mutation showed a decline in intellectual ability with forgetfulness, aggression, and a decline in personal hygiene at age 32, which progressed to death by age 37. Pathologic examination of both cases showed severe atrophy and neuronal loss in the frontal cortex with many tau-immunoreactive neuronal inclusions. In vitro, the G389R mutation reduced the ability of tau to promote microtubule assembly by 25 to 30%, and the K257T mutation reduced the ability of tau to promote microtubule assembly by 70%. </p><p>In a patient with Pick disease characterized clinically by onset at age 52 of rapidly progressing decline of cognitive and behavioral abilities, and pathologically by severe temporal atrophy and the presence of Pick inclusion bodies and Pick cells, Neumann et al. (2001) identified a mutation in exon 12 of the MAPT gene (K369I; 157140.0015). The K369I mutation led to a 90% reduction in the rate of microtubule assembly, and the authors suggested that free mutant tau may assemble abnormally, leading to pathologic changes. </p><p>In 34 cases of pathologically confirmed classic Pick disease, Morris et al. (2002) found no difference between tau H2 haplotype or H2/H2 genotype frequencies compared to 215 controls. In the 22 cases in which the full tau sequence was analyzed, no mutations in the tau gene were found, leading the authors to conclude that 'in general, Pick disease is a sporadic condition that is not due to tau mutations.' </p><p>In affected members of a family with Pick disease, Dermaut et al. (2004) identified a mutation in the PSEN1 gene (104311.0027). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</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>Lee and Trojanowski (2001) generated transgenic mice that overexpressed the shortest human brain tau isoform in CNS neurons. The mice developed age-dependent accumulations of neuronal filamentous tau inclusions accompanied by neurodegeneration, gliosis, and tau protein abnormalities similar to human tauopathies. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Grunthal (1930)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Brun, A.
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<strong>Frontal lobe degeneration of non-Alzheimer type. I. Neuropathology.</strong>
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Arch. Gerontol. Geriat. 6: 193-208, 1987.
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[PubMed: 3689053]
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[Full Text: https://doi.org/10.1016/0167-4943(87)90021-5]
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</p>
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<li>
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<p class="mim-text-font">
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Collinge, J., Palmer, M. S., Sidle, K. C. L., Mahal, S. P., Campbell, T., Brown, J., Hardy, J., Brun, A. E., Gustafson, L., Bakker, E., Roos, R., Groen, J. J.
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<strong>Familial Pick's disease and dementia in frontal lobe degeneration of non-Alzheimer type are not variants of prion disease. (Letter)</strong>
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J. Neurol. Neurosurg. Psychiat. 57: 762-768, 1994.
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Dermaut, B., Kumar-Singh, S., Engelborghs, S., Theuns, J., Rademakers, R., Saerens, J., Pickut, B. A., Peeters, K., van den Broeck, M., Vennekens, K., Claes, S., Cruts, M., Cras, P., Martin, J.-J., Van Broeckhoven, C., De Deyn, P. P.
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<strong>A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.</strong>
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Ann. Neurol. 55: 617-626, 2004.
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Dickson, D. W.
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<strong>Neuropathology of Pick's disease.</strong>
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Neurology 56 (suppl. 4): S16-S20, 2001.
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[PubMed: 11402145]
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[Full Text: https://doi.org/10.1212/wnl.56.suppl_4.s16]
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Falcon, B., Zhang, W., Murzin, A. G., Murshudov, G., Garringer, H. J., Vidal, R., Crowther, R. A., Ghetti, B., Scheres, S. H. W., Goedert, M.
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<strong>Structures of filaments from Pick's disease reveal a novel tau protein fold.</strong>
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Nature 561: 137-140, 2018.
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Farrer, L. A., Abraham, C. R., Volicer, L., Foley, E. J., Kowall, N. W., McKee, A. C., Wells, J. M.
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<strong>Allele epsilon-4 of apolipoprotein E shows a dose effect on age at onset of Pick disease.</strong>
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Exp. Neurol. 136: 162-170, 1995.
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[PubMed: 7498406]
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</p>
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<p class="mim-text-font">
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Groen, J. J., Endtz, L. J.
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<strong>Hereditary Pick's disease: second re-examination of a large family and discussion of other hereditary cases, with particular reference to electroencephalography and computerized tomography.</strong>
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Brain 105: 443-459, 1982.
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<p class="mim-text-font">
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Grunthal, E.
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<strong>Ueber ein Bruderpaar mit pickscher Krankheit.</strong>
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Ztschr. ges. Neurol. Psychiat. 129: 350-375, 1930.
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Gustafson, L.
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Arch. Gerontol. Geriat. 6: 209-223, 1987.
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[PubMed: 3689054]
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[Full Text: https://doi.org/10.1016/0167-4943(87)90022-7]
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Heutink, P., Stevens, M., Rizzu, P., Bakker, E., Kros, J. M., Tibben, A., Niermeijer, M. F., van Duijn, C. M., Oostra, B. A., van Swieten, J. C.
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<strong>Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families.</strong>
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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.
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<strong>Association of missense and 5-prime-splice-site mutations in tau with the inherited dementia FTDP-17.</strong>
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Nature 393: 702-705, 1998.
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<p class="mim-text-font">
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Kertesz, A.
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<strong>Pick complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy.</strong>
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<li>
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<p class="mim-text-font">
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Lee, V. M.-Y., Trojanowski, J. Q.
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<strong>Transgenic mouse models of tauopathies: prospects for animal models of Pick's disease.</strong>
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Neurology 56 (suppl. 4): S26-S30, 2001.
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[PubMed: 11402147]
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[Full Text: https://doi.org/10.1212/wnl.56.suppl_4.s26]
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</p>
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<p class="mim-text-font">
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Morris, H. R., Baker, M., Yasojima, K., Houlden, H., Khan, M. N., Wood, N. W., Hardy, J., Grossman, M., Trojanowski, J., Revesz, T., Bigio, E. H., Bergeron, C., Janssen, J. C., McGeer, P. L., Rossor, M. N., Lees, A. J., Lantos, P. L., Hutton, M.
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<strong>Analysis of tau haplotypes in Pick's disease.</strong>
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Morris, J. C., Cole, M., Banker, B. Q., Wright, D.
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<strong>Hereditary dysphasic dementia and the Pick-Alzheimer spectrum.</strong>
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<p class="mim-text-font">
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Munoz-Garcia, D., Ludwin, S. K.
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<strong>Classic and generalized variants of Pick's disease: a clinicopathological, ultrastructural, and immunocytochemical comparative study.</strong>
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Ann. Neurol. 16: 467-480, 1984.
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[PubMed: 6093681]
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[Full Text: https://doi.org/10.1002/ana.410160408]
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</p>
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<li>
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<p class="mim-text-font">
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Nakamura, Y., Takeda, M., Yoshimi, K., Hattori, H., Hariguchi, S., Hashimoto, S., Nishimura, T.
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<strong>Involvement of clathrin light chains in the pathology of Pick's disease: implication for impairment of axonal transport.</strong>
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Neurosci. Lett. 180: 25-28, 1994.
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[PubMed: 7533277]
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[Full Text: https://doi.org/10.1016/0304-3940(94)90905-9]
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</p>
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<li>
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<p class="mim-text-font">
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Neumann, M., Schulz-Schaeffer, W., Crowther, R. A., Smith, M. J., Spillantini, M. G., Goedert, M., Kretzschmar, H. A.
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<strong>Pick's disease associated with the novel tau gene mutation K369I.</strong>
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Pickering-Brown, S., Baker, M., Yen, S.-H., Liu, W.-K., Hasegawa, M., Cairns, N., Lantos, P. L., Rossor, M., Iwatsubo, T., Davies, Y., Allsop, D., Furlong, R., Owen, F., Hardy, J., Mann, D., Hutton, M.
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<strong>Pick's disease is associated with mutations in the tau gene.</strong>
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Ann. Neurol. 48: 859-867, 2000.
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[PubMed: 11117542]
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Piguet, O., Halliday, G. M., Reid, W. G. J., Casey, B., Carman, R., Huang, Y., Xuereb, J. H., Hodges, J. R., Kril, J. J.
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Sanders, J., Schenk, V. W. D., van Veen, P.
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<strong>A Family with Pick's Disease.</strong>
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Amsterdam: N. V. Noord-Hollandsche Uitgevers-Maatschappij (pub.) 1939.
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Schenk, V. W. D.
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<strong>Re-examination of a family with Pick's disease.</strong>
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Ann. Hum. Genet. 23: 325-333, 1959.
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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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Yasuhara, O., Matsuo, A., Tooyama, I., Kimura, H., McGeer, E. G., McGeer, P. L.
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<strong>Pick's disease immunohistochemistry: new alterations and Alzheimer's disease comparisons.</strong>
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Zhukareva, V., Mann, D., Pickering-Brown, S., Uryu, K., Shuck, T., Shah, K., Grossman, M., Miller, B. L., Hulette, C. M., Feinstein, S. C., Trojanowski, J. Q., Lee, V. M.-Y.
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<strong>Sporadic Pick's disease: a tauopathy characterized by a spectrum of pathological tau isoforms in gray and white matter.</strong>
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[PubMed: 12112079]
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[Full Text: https://doi.org/10.1002/ana.10222]
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