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<title>
Entry
- #221770 - POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1; PLOSL1
- OMIM
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<span class="h4">#221770</span>
<br />
<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/221770"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS221770"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY" 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>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2523&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0090112" 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>
<div><a href="http://www.informatics.jax.org/disease/221770" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 2770<br />
<strong>DO:</strong> 0090112<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
221770
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1; PLOSL1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
PLOSL<br />
NASU-HAKOLA DISEASE; NHD<br />
PRESENILE DEMENTIA WITH BONE CYSTS<br />
DEMENTIA, PREFRONTAL, WITH BONE CYSTS<br />
DEMENTIA, PROGRESSIVE, WITH LIPOMEMBRANOUS POLYCYSTIC OSTEODYSPLASIA<br />
BRAIN-BONE-FAT DISEASE
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<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/19/607?start=-3&limit=10&highlight=607">
19q13.12
</a>
</span>
</td>
<td>
<span class="mim-font">
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/221770"> 221770 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
TYROBP
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604142"> 604142 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/221770" 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>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS221770" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<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/221770" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/221770" 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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Bladder </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Urinary incontinence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165232002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165232002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R32</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/788.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.30</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/788.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042024&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042024</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000020</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pain and swelling in ankles and wrists after stress or injury beginning around age 20 years <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857321&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857321</a>]</span><br /> -
Bone cysts filled with necrotic, fatty material <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857322</a>]</span><br /> -
Cysts in patella and ends of long bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857323</a>]</span><br /> -
Pathologic fractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22640007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22640007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268029009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268029009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M84.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M84.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V13.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V13.51</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016663&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016663</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002756</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002756</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bone cysts in phalangeal, metacarpal, and carpal bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150287&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150287</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bone cysts in phalangeal, metatarsal, and tarsal bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150288&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150288</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dementia, presenile, progressive, beginning around age 30 years <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857317&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857317</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>]</span><br /> -
Frontal lobe syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129606007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129606007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F07.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F07.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/310.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">310.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0549117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549117</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Abnormal EEG <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274521009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274521009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R94.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R94.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151611</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span><br /> -
Agnosia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42341009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42341009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R48.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R48.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3463964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3463964</a>, <a href="https://bioportal.bioontology.org/search?q=C0001816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010524" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010524</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010524" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010524</a>]</span><br /> -
Apraxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68345001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68345001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6950007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6950007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R48.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R48.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002186" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002186</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002186" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002186</a>]</span><br /> -
Speech disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037822</a>]</span><br /> -
Mild memory loss <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857318&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857318</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386807006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386807006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48167000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48167000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R41.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R41.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.93" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.93</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002354" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002354</a>]</span><br /> -
Myoclonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17450006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17450006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027066</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span><br /> -
Upper motor neuron signs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0749870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0749870</a>]</span><br /> -
Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
Extensor plantar responses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246586009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246586009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366575004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366575004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span><br /> -
Gait disturbance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
Primitive reflexes <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">[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>, <a href="https://bioportal.bioontology.org/search?q=C0422895&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0422895</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">[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 /> -
MRI shows leukoencephalopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857319&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857319</a>]</span><br /> -
Basal ganglia calcifications <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16818591000119108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16818591000119108</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G23.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G23.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389280&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389280</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002135</a>]</span><br /> -
Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
Thinning of the corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5441562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span><br /> -
Caudate atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858116&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858116</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002340</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002340</a>]</span><br /> -
Neuropathologic examination shows severe demyelination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857320&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857320</a>]</span><br /> -
Gliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/359580009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">359580009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81415000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81415000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887640</a>, <a href="https://bioportal.bioontology.org/search?q=C0017639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002446" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002446</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002171</a>]</span><br /> -
Axonal loss <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832338&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832338</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003447</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003447</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">
- Frontal lobe dementia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278857002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278857002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338455&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338455</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000727" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000727</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000727" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000727</a>]</span><br /> -
Loss of judgement <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162327005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162327005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0580938&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0580938</a>]</span><br /> -
Lack of insight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24340004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24340004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20930002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20930002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R41.85" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R41.85</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234507</a>, <a href="https://bioportal.bioontology.org/search?q=C0233824&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233824</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000757</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000757</a>]</span><br /> -
Euphoria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/307074005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">307074005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85949006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85949006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3889576&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3889576</a>, <a href="https://bioportal.bioontology.org/search?q=C0235146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031844" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031844</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031844" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031844</a>]</span><br /> -
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 /> -
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 /> -
Aggressive behavior <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61372001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61372001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001807</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006919</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span><br /> -
Inappropriate behavior <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112082005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112082005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233522&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233522</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000719</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Profound dementia and death usually occurs by age 50 years<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutations in the protein tyrosine kinase-binding protein gene (TYROBP, <a href="/entry/604142#0001">604142.0001</a>)<br /> -
Caused by mutations in the triggering receptor expressed on myeloid cells-2 gene (TREM2, <a href="/entry/605086#0001">605086.0001</a>)<br />
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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
- <a href="/phenotypicSeries/PS221770">PS221770</a>
- 2 Entries
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<strong>Inheritance</strong>
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<a href="/geneMap/6/479?start=-3&limit=10&highlight=479"> 6p21.1 </a>
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<a href="/entry/618193"> Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/618193"> 618193 </a>
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<a href="/entry/605086"> TREM2 </a>
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<a href="/entry/605086"> 605086 </a>
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<a href="/geneMap/19/607?start=-3&limit=10&highlight=607"> 19q13.12 </a>
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<a href="/entry/221770"> Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/221770"> 221770 </a>
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<a href="/entry/604142"> TYROBP </a>
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<a href="/entry/604142"> 604142 </a>
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<p>A number sign (#) is used with this entry because of evidence that polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-1 (PLOSL1), also known as Nasu-Hakola disease, is caused by homozygous mutation in the DAP12 gene (TYROBP; <a href="/entry/604142">604142</a>) on chromosome 19q13.</p>
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<strong>Description</strong>
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<p>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usually leads to death in the fifth decade of life (summary by <a href="#9" class="mim-tip-reference" title="Kondo, T., Takahashi, K., Kohara, N., Takahashi, Y., Hayashi, S., Takahashi, H., Matsuo, H., Yamazaki, M., Inoue, K., Miyamoto, K., Yamamura, T. &lt;strong&gt;Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.&lt;/strong&gt; Neurology 59: 1105-1107, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12370476/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12370476&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.59.7.1105&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12370476">Kondo et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12370476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy</em></strong></p><p>
Also see PLOSL2 (<a href="/entry/618193">618193</a>), caused by mutation in the TREM2 gene (<a href="/entry/605086">605086</a>) on chromosome 6p21.</p>
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<p><a href="#4" class="mim-tip-reference" title="Hakola, H. P. A. &lt;strong&gt;Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia.&lt;/strong&gt; Acta Psychiat. Scand. Suppl. 232: 1-173, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4509294/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4509294&lt;/a&gt;]" pmid="4509294">Hakola (1972)</a> reported a disorder in Finland in which affected patients had onset in the third decade of pain and swelling following strain of the wrist or ankle; fractures occurred after minor accidents. Radiographs showed cystic rarefactions in the epiphyseal regions of bones. The cysts contained jelly-like material and microscopically showed membranous and lamellar structures between fatty and collagenous connective tissue. In the fourth decade, patients developed neuropsychiatric symptoms, including memory impairment, euphoria, loss of social inhibitions, and impotency or frigidity. Neurologic examination showed exaggerated deep tendon reflexes, pathologic reflexes, and dysplasia. The EEG was typical: synchronous, episodic, and diffuse 6 to 8 cycle per second activity and replacement of the alpha rhythm by amorphous theta and delta activity. Pneumoencephalography showed dilated ventricles consequent to cortical atrophy. The disorder occurred in multiple sibs with consanguineous parents, and most of the affected persons originated from 1 Finnish province, suggesting autosomal recessive inheritance. The same disorder was observed in Japan (<a href="#10" class="mim-tip-reference" title="Nasu, T., Tsukahara, Y., Tarayama, K. &lt;strong&gt;A lipid metabolic disease--&#x27;membranous lipodystrophy&#x27;--an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues.&lt;/strong&gt; Acta Path. Jpn. 23: 539-558, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4800725/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4800725&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1440-1827.1973.tb01223.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4800725">Nasu et al., 1973</a>; <a href="#6" class="mim-tip-reference" title="Harada, K. &lt;strong&gt;Ein Fall von &#x27;membranoeser Lipodystrophie (Nasu),&#x27; unter besonderer Beruecksichtigung des psychiatrischen und neuropathologischen Befundes.&lt;/strong&gt; Folia Psychiat. Neurol. Jpn. 29: 169-177, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1176071/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1176071&lt;/a&gt;]" pmid="1176071">Harada, 1975</a>) and in Sweden (<a href="#1" class="mim-tip-reference" title="Adolfsson, R., Forsell, A., Johansson, G. &lt;strong&gt;Hereditary polycystic osteodysplasia with progressive dementia in Sweden. (Letter)&lt;/strong&gt; Lancet 311: 1209-1210, 1978. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/77975/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;77975&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(78)91000-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="77975">Adolfsson et al., 1978</a>). Patients usually die between ages 35 and 45, and the later features of the disorder resemble those of Alzheimer disease. <a href="#1" class="mim-tip-reference" title="Adolfsson, R., Forsell, A., Johansson, G. &lt;strong&gt;Hereditary polycystic osteodysplasia with progressive dementia in Sweden. (Letter)&lt;/strong&gt; Lancet 311: 1209-1210, 1978. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/77975/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;77975&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(78)91000-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="77975">Adolfsson et al. (1978)</a> observed 7 affected persons in 2 families in northern Sweden. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1176071+4509294+4800725+77975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>According to <a href="#7" class="mim-tip-reference" title="Jarvi, O., Hakola, P., Sourander, P., Kormano, M., Nevalainen, T., Kalimo, H. &lt;strong&gt;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. (eds.): Population Structure and Genetic Disorders.&lt;/strong&gt; New York: Academic Press (pub.) 1980. Pp. 656-664."None>Jarvi et al. (1980)</a>, 13 cases in 9 sibships were identified in Finland, 25 in 23 sibships in Japan, 11 in 3 sibships in Sweden, and a single case in the United States. Onset occurred at about age 20 years with pain and swelling in the wrists and ankles after stress or injury. Neuropsychiatric symptoms began after age 30 years: progressive dementia with an accentuated prefrontal syndrome, signs of upper motor neuron involvement, agnostic-apractic-aphasic symptoms, myoclonic twitches, and epileptic seizures. Cysts, filled with partly necrotic fatty tissue, occurred in the phalanges, metacarpals, carpals, metatarsals, tarsals, patella, and ends of long bones. Small vessels were narrowed and damaged in bone and brain. <a href="#7" class="mim-tip-reference" title="Jarvi, O., Hakola, P., Sourander, P., Kormano, M., Nevalainen, T., Kalimo, H. &lt;strong&gt;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. (eds.): Population Structure and Genetic Disorders.&lt;/strong&gt; New York: Academic Press (pub.) 1980. Pp. 656-664."None>Jarvi et al. (1980)</a> postulated a primary defective development of the vascular system.</p><p><a href="#8" class="mim-tip-reference" title="Kalimo, H., Sourander, P., Jarvi, O., Hakola, P. &lt;strong&gt;Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy).&lt;/strong&gt; Acta Neurol. Scand. 89: 353-361, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8085433/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8085433&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0404.1994.tb02646.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8085433">Kalimo et al. (1994)</a> described the histopathologic, immunohistochemical, and electron microscopic findings in 8 patients with polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy. The disorder was first manifested by multiple bone cysts, with development of a severe neuropsychiatric disorder around the age of 30 years. The typical macroscopic features were marked hydrocephalus ex vacuo due to severe destruction of the white matter, with extensive secondary astrocytic gliosis and relatively better preserved gray matter. <a href="#8" class="mim-tip-reference" title="Kalimo, H., Sourander, P., Jarvi, O., Hakola, P. &lt;strong&gt;Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy).&lt;/strong&gt; Acta Neurol. Scand. 89: 353-361, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8085433/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8085433&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0404.1994.tb02646.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8085433">Kalimo et al. (1994)</a> showed that the basement membranes of blood vessels with 'plump' endothelium were thickened and often multiplied, most prominently in the white matter. Extravasation of plasma constituents was demonstrated immunohistochemically. On the basis of the vascular changes, also present in bone lesions, <a href="#8" class="mim-tip-reference" title="Kalimo, H., Sourander, P., Jarvi, O., Hakola, P. &lt;strong&gt;Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy).&lt;/strong&gt; Acta Neurol. Scand. 89: 353-361, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8085433/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8085433&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0404.1994.tb02646.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8085433">Kalimo et al. (1994)</a> proposed that severe chronic vasogenic brain edema is the main pathogenetic mechanism of the severe leukoencephalopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8085433" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Verloes, A., Maquet, P., Sadzot, B., Vivario, M., Thiry, A., Franck, G. &lt;strong&gt;Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia.&lt;/strong&gt; J. Med. Genet. 34: 753-757, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9321763/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9321763&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.34.9.753&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9321763">Verloes et al. (1997)</a> reported a further case and reviewed the epidemiology of clinical features--radiology, pathology, pathophysiology, biochemistry, and differential diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9321763" 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 id="mapping" class="mim-anchor"></a>
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<p>Pekkarinen et al. (<a href="#14" class="mim-tip-reference" title="Pekkarinen, P., Hovatta, I., Hakola, P., Jarvi, O., Lonnqvist, J., Adolfsson, R., Nylander, P.-O., Holmgren, G., Tranebjaerg, L., Peltonen, L. &lt;strong&gt;Genome scan reveals a locus for PLO-SL, a prefrontal dementia with bone cysts, on chromosome 19. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 61 (suppl.): A29 only, 1997."None>1997</a>, <a href="#13" class="mim-tip-reference" title="Pekkarinen, P., Hovatta, I., Hakola, P., Jarvi, O., Kestila, M., Lenkkeri, U., Adolfsson, R., Holmgren, G., Nylander, P.-O., Tranebjaerg, L., Terwilliger, J. D., Lonnqvist, J., Peltonen, L. &lt;strong&gt;Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.&lt;/strong&gt; Am. J. Hum. Genet. 62: 362-372, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9463329/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9463329&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301722&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9463329">1998</a>) stated that approximately 160 cases of this disorder had been identified since the 1960s, mainly in Finland and Japan. By a modification of the haplotype-sharing method, Pekkarinen et al. (<a href="#14" class="mim-tip-reference" title="Pekkarinen, P., Hovatta, I., Hakola, P., Jarvi, O., Lonnqvist, J., Adolfsson, R., Nylander, P.-O., Holmgren, G., Tranebjaerg, L., Peltonen, L. &lt;strong&gt;Genome scan reveals a locus for PLO-SL, a prefrontal dementia with bone cysts, on chromosome 19. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 61 (suppl.): A29 only, 1997."None>1997</a>, <a href="#13" class="mim-tip-reference" title="Pekkarinen, P., Hovatta, I., Hakola, P., Jarvi, O., Kestila, M., Lenkkeri, U., Adolfsson, R., Holmgren, G., Nylander, P.-O., Tranebjaerg, L., Terwilliger, J. D., Lonnqvist, J., Peltonen, L. &lt;strong&gt;Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.&lt;/strong&gt; Am. J. Hum. Genet. 62: 362-372, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9463329/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9463329&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301722&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9463329">1998</a>) carried out a random genome screen for the disease locus, called PLOSL by them, in affected individuals from Finland. Markers in genomic regions with extensive haplotype sharing were genotyped in 12 PLOSL families from Finland, 3 from Sweden, and 1 from Norway. Significant evidence of linkage to chromosome 19q13.1 was found in the Finnish families. Haplotype analysis of 1 of the Swedish families and the Norwegian family indicated that the disorder was not linked to 19q13.1, suggesting genetic heterogeneity. The critical region in the Finnish families was bordered by obligatory recombinations in D19S191 and D19S420, which are separated by 9 cM. By linkage-disequilibrium analysis, Pekkarinen et al. (<a href="#14" class="mim-tip-reference" title="Pekkarinen, P., Hovatta, I., Hakola, P., Jarvi, O., Lonnqvist, J., Adolfsson, R., Nylander, P.-O., Holmgren, G., Tranebjaerg, L., Peltonen, L. &lt;strong&gt;Genome scan reveals a locus for PLO-SL, a prefrontal dementia with bone cysts, on chromosome 19. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 61 (suppl.): A29 only, 1997."None>1997</a>, <a href="#13" class="mim-tip-reference" title="Pekkarinen, P., Hovatta, I., Hakola, P., Jarvi, O., Kestila, M., Lenkkeri, U., Adolfsson, R., Holmgren, G., Nylander, P.-O., Tranebjaerg, L., Terwilliger, J. D., Lonnqvist, J., Peltonen, L. &lt;strong&gt;Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.&lt;/strong&gt; Am. J. Hum. Genet. 62: 362-372, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9463329/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9463329&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301722&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9463329">1998</a>) further restricted the critical region to approximately 1.8 Mb. By the same method in a later study, <a href="#15" class="mim-tip-reference" title="Pekkarinen, P., Kestila, M., Paloneva, J., Terwilliger, J., Varilo, T., Jarvi, O., Hakola, P., Peltonen, L. &lt;strong&gt;Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.&lt;/strong&gt; Genomics 54: 307-315, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9828133/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9828133&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1998.5591&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9828133">Pekkarinen et al. (1998)</a> narrowed the critical region for PLOSL to 153 kb. <a href="#13" class="mim-tip-reference" title="Pekkarinen, P., Hovatta, I., Hakola, P., Jarvi, O., Kestila, M., Lenkkeri, U., Adolfsson, R., Holmgren, G., Nylander, P.-O., Tranebjaerg, L., Terwilliger, J. D., Lonnqvist, J., Peltonen, L. &lt;strong&gt;Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.&lt;/strong&gt; Am. J. Hum. Genet. 62: 362-372, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9463329/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9463329&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301722&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9463329">Pekkarinen et al. (1998)</a> noted that the amyloid precursor-like protein-1 (APLP1; <a href="/entry/104775">104775</a>) is located in the same region of chromosome 19; no mutations were detected in the coding region of the APLP1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9828133+9463329" 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 id="inheritance" class="mim-anchor"></a>
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<p>The transmission pattern of PLOSL in the families reported by <a href="#12" class="mim-tip-reference" title="Paloneva, J., Kestila, M., Wu, J., Salminen, A., Bohling, T., Ruotsalainen, V., Hakola, P., Bakker, A. B. H., Phillips, J. H., Pekkarinen, P., Lanier, L. L., Timonen, T., Peltonen, L. &lt;strong&gt;Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.&lt;/strong&gt; Nature Genet. 25: 357-361, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10888890/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10888890&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/77153&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10888890">Paloneva et al. (2000)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888890" 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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<strong>Molecular Genetics</strong>
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<p>In Finnish patients with PLOSL, <a href="#12" class="mim-tip-reference" title="Paloneva, J., Kestila, M., Wu, J., Salminen, A., Bohling, T., Ruotsalainen, V., Hakola, P., Bakker, A. B. H., Phillips, J. H., Pekkarinen, P., Lanier, L. L., Timonen, T., Peltonen, L. &lt;strong&gt;Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.&lt;/strong&gt; Nature Genet. 25: 357-361, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10888890/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10888890&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/77153&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10888890">Paloneva et al. (2000)</a> identified homozygosity for a large deletion in the TYROBP gene (<a href="/entry/604142#0001">604142.0001</a>). In a Japanese patient with PLOSL, they identified homozygosity for a frameshift mutation in TYROBP (<a href="/entry/604142#0002">604142.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888890" 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 5 of 6 Japanese patients with Nasu-Hakola disease, <a href="#9" class="mim-tip-reference" title="Kondo, T., Takahashi, K., Kohara, N., Takahashi, Y., Hayashi, S., Takahashi, H., Matsuo, H., Yamazaki, M., Inoue, K., Miyamoto, K., Yamamura, T. &lt;strong&gt;Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.&lt;/strong&gt; Neurology 59: 1105-1107, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12370476/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12370476&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.59.7.1105&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12370476">Kondo et al. (2002)</a> identified homozygous mutations in the DAP12 gene (see, e.g., <a href="/entry/604142#0003">604142.0003</a>). One patient did not have a mutation in DAP12 and normally expressed DAP12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12370476" 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 id="populationGenetics" class="mim-anchor"></a>
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<strong>Population Genetics</strong>
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<p>Although PLOSL has a global distribution, most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2.0 x 10(-6) in Finns (<a href="#5" class="mim-tip-reference" title="Hakola, H. P. A. &lt;strong&gt;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy): a neuropsychiatric follow-up study. In: Henriksson, M.; Huttunen, M.; Kuoppasalmi, K.; Lindfors, O.; Lonnqvist, J. (eds.): Monographs of Psychiatria Fennica. Monograph 17.&lt;/strong&gt; Helsinki: Foundation for Psychiatric Research in Finland (pub.) 1990. Pp. 1-87."None>Hakola, 1990</a>).</p>
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<a id="nomenclature" class="mim-anchor"></a>
<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Nomenclature</strong>
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<p><a href="#12" class="mim-tip-reference" title="Paloneva, J., Kestila, M., Wu, J., Salminen, A., Bohling, T., Ruotsalainen, V., Hakola, P., Bakker, A. B. H., Phillips, J. H., Pekkarinen, P., Lanier, L. L., Timonen, T., Peltonen, L. &lt;strong&gt;Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.&lt;/strong&gt; Nature Genet. 25: 357-361, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10888890/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10888890&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/77153&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10888890">Paloneva et al. (2000)</a> referred to the disorder by the simplified designation 'presenile dementia with bone cysts.' The condition is also known as Nasu-Hakola disease for the persons who described the condition in Japan and Finland, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888890" 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 id="seeAlso" class="mim-anchor"></a>
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<strong>See Also:</strong>
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<span class="mim-text-font">
<a href="#Hakola1973" class="mim-tip-reference" title="Hakola, H. P. A., Iivanainen, M. &lt;strong&gt;A new hereditary disease with progressive dementia and polycystic osteodysplasia: neuroradiological analysis of seven cases.&lt;/strong&gt; Neuroradiology 6: 162-168, 1973.">Hakola and Iivanainen (1973)</a>; <a href="#Hakola1975" class="mim-tip-reference" title="Hakola, H. P. A., Karjalainen, P. &lt;strong&gt;Bone mineral content in hereditary polycystic osteodysplasia associated with progressive dementia.&lt;/strong&gt; Acta Radiol. Diagn. (Stockh.) 16: 385-392, 1975.">Hakola and Karjalainen (1975)</a>; <a href="#Paloneva2001" class="mim-tip-reference" title="Paloneva, J., Autti, T., Raininko, R., Partanen, J., Salonen, O., Puranen, M., Hakola, P., Haltia, M. &lt;strong&gt;CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts.&lt;/strong&gt; Neurology 56: 1552-1558, 2001.">Paloneva
et al. (2001)</a>; <a href="#Wood1978" class="mim-tip-reference" title="Wood, C. &lt;strong&gt;Membranous lipodystrophy of bones.&lt;/strong&gt; Arch. Path. Lab. Med. 102: 22-27, 1978.">Wood (1978)</a>; <a href="#Yagishita1976" class="mim-tip-reference" title="Yagishita, S., Ito, Y., Ikezaki, R. &lt;strong&gt;Lipomembranous polycystic osteodysplasia.&lt;/strong&gt; Virchows Arch. A Path. Anat. Histol. 372: 245-251, 1976.">Yagishita et al. (1976)</a>
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<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
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</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Adolfsson1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Adolfsson, R., Forsell, A., Johansson, G.
<strong>Hereditary polycystic osteodysplasia with progressive dementia in Sweden. (Letter)</strong>
Lancet 311: 1209-1210, 1978. Note: Originally Volume I.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/77975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">77975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=77975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(78)91000-0" target="_blank">Full Text</a>]
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Hakola1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hakola, H. P. A., Iivanainen, M.
<strong>A new hereditary disease with progressive dementia and polycystic osteodysplasia: neuroradiological analysis of seven cases.</strong>
Neuroradiology 6: 162-168, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4764488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4764488</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4764488" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00340444" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Hakola1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hakola, H. P. A., Karjalainen, P.
<strong>Bone mineral content in hereditary polycystic osteodysplasia associated with progressive dementia.</strong>
Acta Radiol. Diagn. (Stockh.) 16: 385-392, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1189965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1189965</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1189965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1177/028418517501600410" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Hakola1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hakola, H. P. A.
<strong>Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia.</strong>
Acta Psychiat. Scand. Suppl. 232: 1-173, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4509294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4509294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4509294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Hakola1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hakola, H. P. A.
<strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy): a neuropsychiatric follow-up study. In: Henriksson, M.; Huttunen, M.; Kuoppasalmi, K.; Lindfors, O.; Lonnqvist, J. (eds.): Monographs of Psychiatria Fennica. Monograph 17.</strong>
Helsinki: Foundation for Psychiatric Research in Finland (pub.) 1990. Pp. 1-87.
</p>
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</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Harada1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Harada, K.
<strong>Ein Fall von 'membranoeser Lipodystrophie (Nasu),' unter besonderer Beruecksichtigung des psychiatrischen und neuropathologischen Befundes.</strong>
Folia Psychiat. Neurol. Jpn. 29: 169-177, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1176071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1176071</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1176071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Jarvi1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jarvi, O., Hakola, P., Sourander, P., Kormano, M., Nevalainen, T., Kalimo, H.
<strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. (eds.): Population Structure and Genetic Disorders.</strong>
New York: Academic Press (pub.) 1980. Pp. 656-664.
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Kalimo1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kalimo, H., Sourander, P., Jarvi, O., Hakola, P.
<strong>Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy).</strong>
Acta Neurol. Scand. 89: 353-361, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8085433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8085433</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8085433" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1600-0404.1994.tb02646.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Kondo2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kondo, T., Takahashi, K., Kohara, N., Takahashi, Y., Hayashi, S., Takahashi, H., Matsuo, H., Yamazaki, M., Inoue, K., Miyamoto, K., Yamamura, T.
<strong>Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.</strong>
Neurology 59: 1105-1107, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12370476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12370476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12370476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.59.7.1105" target="_blank">Full Text</a>]
</p>
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<li>
<a id="10" class="mim-anchor"></a>
<a id="Nasu1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nasu, T., Tsukahara, Y., Tarayama, K.
<strong>A lipid metabolic disease--'membranous lipodystrophy'--an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues.</strong>
Acta Path. Jpn. 23: 539-558, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4800725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4800725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4800725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1440-1827.1973.tb01223.x" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Paloneva2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Paloneva, J., Autti, T., Raininko, R., Partanen, J., Salonen, O., Puranen, M., Hakola, P., Haltia, M.
<strong>CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts.</strong>
Neurology 56: 1552-1558, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11402114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11402114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11402114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.56.11.1552" target="_blank">Full Text</a>]
</p>
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<a id="12" class="mim-anchor"></a>
<a id="Paloneva2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Paloneva, J., Kestila, M., Wu, J., Salminen, A., Bohling, T., Ruotsalainen, V., Hakola, P., Bakker, A. B. H., Phillips, J. H., Pekkarinen, P., Lanier, L. L., Timonen, T., Peltonen, L.
<strong>Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.</strong>
Nature Genet. 25: 357-361, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/77153" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Pekkarinen1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pekkarinen, P., Hovatta, I., Hakola, P., Jarvi, O., Kestila, M., Lenkkeri, U., Adolfsson, R., Holmgren, G., Nylander, P.-O., Tranebjaerg, L., Terwilliger, J. D., Lonnqvist, J., Peltonen, L.
<strong>Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.</strong>
Am. J. Hum. Genet. 62: 362-372, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9463329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9463329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9463329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/301722" target="_blank">Full Text</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Pekkarinen1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pekkarinen, P., Hovatta, I., Hakola, P., Jarvi, O., Lonnqvist, J., Adolfsson, R., Nylander, P.-O., Holmgren, G., Tranebjaerg, L., Peltonen, L.
<strong>Genome scan reveals a locus for PLO-SL, a prefrontal dementia with bone cysts, on chromosome 19. (Abstract)</strong>
Am. J. Hum. Genet. 61 (suppl.): A29 only, 1997.
</p>
</div>
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<li>
<a id="15" class="mim-anchor"></a>
<a id="Pekkarinen1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pekkarinen, P., Kestila, M., Paloneva, J., Terwilliger, J., Varilo, T., Jarvi, O., Hakola, P., Peltonen, L.
<strong>Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.</strong>
Genomics 54: 307-315, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9828133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9828133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9828133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1998.5591" target="_blank">Full Text</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Verloes1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Verloes, A., Maquet, P., Sadzot, B., Vivario, M., Thiry, A., Franck, G.
<strong>Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia.</strong>
J. Med. Genet. 34: 753-757, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9321763/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9321763</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9321763" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.34.9.753" target="_blank">Full Text</a>]
</p>
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<a id="17" class="mim-anchor"></a>
<a id="Wood1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wood, C.
<strong>Membranous lipodystrophy of bones.</strong>
Arch. Path. Lab. Med. 102: 22-27, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/579591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">579591</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=579591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="18" class="mim-anchor"></a>
<a id="Yagishita1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yagishita, S., Ito, Y., Ikezaki, R.
<strong>Lipomembranous polycystic osteodysplasia.</strong>
Virchows Arch. A Path. Anat. Histol. 372: 245-251, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/827851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">827851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=827851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00433283" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 8/24/2005
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Victor A. McKusick - updated : 12/27/2002<br>Victor A. McKusick - updated : 9/17/2002<br>Victor A. McKusick - updated : 9/8/2000<br>Victor A. McKusick - updated : 6/22/2000<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - updated : 3/30/1998<br>Michael J. Wright - updated : 2/11/1998<br>Victor A. McKusick - updated : 10/22/1997
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Creation Date:
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Victor A. McKusick : 6/3/1986
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carol : 01/05/2024
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<h3>
<span class="mim-font">
<strong>#</strong> 221770
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<h3>
<span class="mim-font">
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1; PLOSL1
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<span class="mim-font">
PLOSL<br />
NASU-HAKOLA DISEASE; NHD<br />
PRESENILE DEMENTIA WITH BONE CYSTS<br />
DEMENTIA, PREFRONTAL, WITH BONE CYSTS<br />
DEMENTIA, PROGRESSIVE, WITH LIPOMEMBRANOUS POLYCYSTIC OSTEODYSPLASIA<br />
BRAIN-BONE-FAT DISEASE
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<strong>ORPHA:</strong> 2770; &nbsp;
<strong>DO:</strong> 0090112; &nbsp;
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<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
19q13.12
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<span class="mim-font">
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
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221770
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Autosomal recessive
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<span class="mim-font">
3
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TYROBP
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604142
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-1 (PLOSL1), also known as Nasu-Hakola disease, is caused by homozygous mutation in the DAP12 gene (TYROBP; 604142) on chromosome 19q13.</p>
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<strong>Description</strong>
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<p>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usually leads to death in the fifth decade of life (summary by Kondo et al., 2002). </p><p><strong><em>Genetic Heterogeneity of Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy</em></strong></p><p>
Also see PLOSL2 (618193), caused by mutation in the TREM2 gene (605086) on chromosome 6p21.</p>
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<span class="mim-font">
<strong>Clinical Features</strong>
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<p>Hakola (1972) reported a disorder in Finland in which affected patients had onset in the third decade of pain and swelling following strain of the wrist or ankle; fractures occurred after minor accidents. Radiographs showed cystic rarefactions in the epiphyseal regions of bones. The cysts contained jelly-like material and microscopically showed membranous and lamellar structures between fatty and collagenous connective tissue. In the fourth decade, patients developed neuropsychiatric symptoms, including memory impairment, euphoria, loss of social inhibitions, and impotency or frigidity. Neurologic examination showed exaggerated deep tendon reflexes, pathologic reflexes, and dysplasia. The EEG was typical: synchronous, episodic, and diffuse 6 to 8 cycle per second activity and replacement of the alpha rhythm by amorphous theta and delta activity. Pneumoencephalography showed dilated ventricles consequent to cortical atrophy. The disorder occurred in multiple sibs with consanguineous parents, and most of the affected persons originated from 1 Finnish province, suggesting autosomal recessive inheritance. The same disorder was observed in Japan (Nasu et al., 1973; Harada, 1975) and in Sweden (Adolfsson et al., 1978). Patients usually die between ages 35 and 45, and the later features of the disorder resemble those of Alzheimer disease. Adolfsson et al. (1978) observed 7 affected persons in 2 families in northern Sweden. </p><p>According to Jarvi et al. (1980), 13 cases in 9 sibships were identified in Finland, 25 in 23 sibships in Japan, 11 in 3 sibships in Sweden, and a single case in the United States. Onset occurred at about age 20 years with pain and swelling in the wrists and ankles after stress or injury. Neuropsychiatric symptoms began after age 30 years: progressive dementia with an accentuated prefrontal syndrome, signs of upper motor neuron involvement, agnostic-apractic-aphasic symptoms, myoclonic twitches, and epileptic seizures. Cysts, filled with partly necrotic fatty tissue, occurred in the phalanges, metacarpals, carpals, metatarsals, tarsals, patella, and ends of long bones. Small vessels were narrowed and damaged in bone and brain. Jarvi et al. (1980) postulated a primary defective development of the vascular system.</p><p>Kalimo et al. (1994) described the histopathologic, immunohistochemical, and electron microscopic findings in 8 patients with polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy. The disorder was first manifested by multiple bone cysts, with development of a severe neuropsychiatric disorder around the age of 30 years. The typical macroscopic features were marked hydrocephalus ex vacuo due to severe destruction of the white matter, with extensive secondary astrocytic gliosis and relatively better preserved gray matter. Kalimo et al. (1994) showed that the basement membranes of blood vessels with 'plump' endothelium were thickened and often multiplied, most prominently in the white matter. Extravasation of plasma constituents was demonstrated immunohistochemically. On the basis of the vascular changes, also present in bone lesions, Kalimo et al. (1994) proposed that severe chronic vasogenic brain edema is the main pathogenetic mechanism of the severe leukoencephalopathy. </p><p>Verloes et al. (1997) reported a further case and reviewed the epidemiology of clinical features--radiology, pathology, pathophysiology, biochemistry, and differential diagnosis. </p>
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<span class="mim-font">
<strong>Mapping</strong>
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<p>Pekkarinen et al. (1997, 1998) stated that approximately 160 cases of this disorder had been identified since the 1960s, mainly in Finland and Japan. By a modification of the haplotype-sharing method, Pekkarinen et al. (1997, 1998) carried out a random genome screen for the disease locus, called PLOSL by them, in affected individuals from Finland. Markers in genomic regions with extensive haplotype sharing were genotyped in 12 PLOSL families from Finland, 3 from Sweden, and 1 from Norway. Significant evidence of linkage to chromosome 19q13.1 was found in the Finnish families. Haplotype analysis of 1 of the Swedish families and the Norwegian family indicated that the disorder was not linked to 19q13.1, suggesting genetic heterogeneity. The critical region in the Finnish families was bordered by obligatory recombinations in D19S191 and D19S420, which are separated by 9 cM. By linkage-disequilibrium analysis, Pekkarinen et al. (1997, 1998) further restricted the critical region to approximately 1.8 Mb. By the same method in a later study, Pekkarinen et al. (1998) narrowed the critical region for PLOSL to 153 kb. Pekkarinen et al. (1998) noted that the amyloid precursor-like protein-1 (APLP1; 104775) is located in the same region of chromosome 19; no mutations were detected in the coding region of the APLP1 gene. </p>
</span>
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<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>The transmission pattern of PLOSL in the families reported by Paloneva et al. (2000) was consistent with autosomal recessive inheritance. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
<p>In Finnish patients with PLOSL, Paloneva et al. (2000) identified homozygosity for a large deletion in the TYROBP gene (604142.0001). In a Japanese patient with PLOSL, they identified homozygosity for a frameshift mutation in TYROBP (604142.0002). </p><p>In 5 of 6 Japanese patients with Nasu-Hakola disease, Kondo et al. (2002) identified homozygous mutations in the DAP12 gene (see, e.g., 604142.0003). One patient did not have a mutation in DAP12 and normally expressed DAP12. </p>
</span>
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<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
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</div>
<span class="mim-text-font">
<p>Although PLOSL has a global distribution, most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2.0 x 10(-6) in Finns (Hakola, 1990).</p>
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<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
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<span class="mim-text-font">
<p>Paloneva et al. (2000) referred to the disorder by the simplified designation 'presenile dementia with bone cysts.' The condition is also known as Nasu-Hakola disease for the persons who described the condition in Japan and Finland, respectively. </p>
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<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Hakola and Iivanainen (1973); Hakola and Karjalainen (1975); Paloneva
et al. (2001); Wood (1978); Yagishita et al. (1976)
</span>
<div>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Adolfsson, R., Forsell, A., Johansson, G.
<strong>Hereditary polycystic osteodysplasia with progressive dementia in Sweden. (Letter)</strong>
Lancet 311: 1209-1210, 1978. Note: Originally Volume I.
[PubMed: 77975]
[Full Text: https://doi.org/10.1016/s0140-6736(78)91000-0]
</p>
</li>
<li>
<p class="mim-text-font">
Hakola, H. P. A., Iivanainen, M.
<strong>A new hereditary disease with progressive dementia and polycystic osteodysplasia: neuroradiological analysis of seven cases.</strong>
Neuroradiology 6: 162-168, 1973.
[PubMed: 4764488]
[Full Text: https://doi.org/10.1007/BF00340444]
</p>
</li>
<li>
<p class="mim-text-font">
Hakola, H. P. A., Karjalainen, P.
<strong>Bone mineral content in hereditary polycystic osteodysplasia associated with progressive dementia.</strong>
Acta Radiol. Diagn. (Stockh.) 16: 385-392, 1975.
[PubMed: 1189965]
[Full Text: https://doi.org/10.1177/028418517501600410]
</p>
</li>
<li>
<p class="mim-text-font">
Hakola, H. P. A.
<strong>Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia.</strong>
Acta Psychiat. Scand. Suppl. 232: 1-173, 1972.
[PubMed: 4509294]
</p>
</li>
<li>
<p class="mim-text-font">
Hakola, H. P. A.
<strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy): a neuropsychiatric follow-up study. In: Henriksson, M.; Huttunen, M.; Kuoppasalmi, K.; Lindfors, O.; Lonnqvist, J. (eds.): Monographs of Psychiatria Fennica. Monograph 17.</strong>
Helsinki: Foundation for Psychiatric Research in Finland (pub.) 1990. Pp. 1-87.
</p>
</li>
<li>
<p class="mim-text-font">
Harada, K.
<strong>Ein Fall von &#x27;membranoeser Lipodystrophie (Nasu),&#x27; unter besonderer Beruecksichtigung des psychiatrischen und neuropathologischen Befundes.</strong>
Folia Psychiat. Neurol. Jpn. 29: 169-177, 1975.
[PubMed: 1176071]
</p>
</li>
<li>
<p class="mim-text-font">
Jarvi, O., Hakola, P., Sourander, P., Kormano, M., Nevalainen, T., Kalimo, H.
<strong>Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL). In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. (eds.): Population Structure and Genetic Disorders.</strong>
New York: Academic Press (pub.) 1980. Pp. 656-664.
</p>
</li>
<li>
<p class="mim-text-font">
Kalimo, H., Sourander, P., Jarvi, O., Hakola, P.
<strong>Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy).</strong>
Acta Neurol. Scand. 89: 353-361, 1994.
[PubMed: 8085433]
[Full Text: https://doi.org/10.1111/j.1600-0404.1994.tb02646.x]
</p>
</li>
<li>
<p class="mim-text-font">
Kondo, T., Takahashi, K., Kohara, N., Takahashi, Y., Hayashi, S., Takahashi, H., Matsuo, H., Yamazaki, M., Inoue, K., Miyamoto, K., Yamamura, T.
<strong>Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.</strong>
Neurology 59: 1105-1107, 2002.
[PubMed: 12370476]
[Full Text: https://doi.org/10.1212/wnl.59.7.1105]
</p>
</li>
<li>
<p class="mim-text-font">
Nasu, T., Tsukahara, Y., Tarayama, K.
<strong>A lipid metabolic disease--&#x27;membranous lipodystrophy&#x27;--an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues.</strong>
Acta Path. Jpn. 23: 539-558, 1973.
[PubMed: 4800725]
[Full Text: https://doi.org/10.1111/j.1440-1827.1973.tb01223.x]
</p>
</li>
<li>
<p class="mim-text-font">
Paloneva, J., Autti, T., Raininko, R., Partanen, J., Salonen, O., Puranen, M., Hakola, P., Haltia, M.
<strong>CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts.</strong>
Neurology 56: 1552-1558, 2001.
[PubMed: 11402114]
[Full Text: https://doi.org/10.1212/wnl.56.11.1552]
</p>
</li>
<li>
<p class="mim-text-font">
Paloneva, J., Kestila, M., Wu, J., Salminen, A., Bohling, T., Ruotsalainen, V., Hakola, P., Bakker, A. B. H., Phillips, J. H., Pekkarinen, P., Lanier, L. L., Timonen, T., Peltonen, L.
<strong>Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.</strong>
Nature Genet. 25: 357-361, 2000.
[PubMed: 10888890]
[Full Text: https://doi.org/10.1038/77153]
</p>
</li>
<li>
<p class="mim-text-font">
Pekkarinen, P., Hovatta, I., Hakola, P., Jarvi, O., Kestila, M., Lenkkeri, U., Adolfsson, R., Holmgren, G., Nylander, P.-O., Tranebjaerg, L., Terwilliger, J. D., Lonnqvist, J., Peltonen, L.
<strong>Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.</strong>
Am. J. Hum. Genet. 62: 362-372, 1998.
[PubMed: 9463329]
[Full Text: https://doi.org/10.1086/301722]
</p>
</li>
<li>
<p class="mim-text-font">
Pekkarinen, P., Hovatta, I., Hakola, P., Jarvi, O., Lonnqvist, J., Adolfsson, R., Nylander, P.-O., Holmgren, G., Tranebjaerg, L., Peltonen, L.
<strong>Genome scan reveals a locus for PLO-SL, a prefrontal dementia with bone cysts, on chromosome 19. (Abstract)</strong>
Am. J. Hum. Genet. 61 (suppl.): A29 only, 1997.
</p>
</li>
<li>
<p class="mim-text-font">
Pekkarinen, P., Kestila, M., Paloneva, J., Terwilliger, J., Varilo, T., Jarvi, O., Hakola, P., Peltonen, L.
<strong>Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.</strong>
Genomics 54: 307-315, 1998.
[PubMed: 9828133]
[Full Text: https://doi.org/10.1006/geno.1998.5591]
</p>
</li>
<li>
<p class="mim-text-font">
Verloes, A., Maquet, P., Sadzot, B., Vivario, M., Thiry, A., Franck, G.
<strong>Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy and presenile dementia.</strong>
J. Med. Genet. 34: 753-757, 1997.
[PubMed: 9321763]
[Full Text: https://doi.org/10.1136/jmg.34.9.753]
</p>
</li>
<li>
<p class="mim-text-font">
Wood, C.
<strong>Membranous lipodystrophy of bones.</strong>
Arch. Path. Lab. Med. 102: 22-27, 1978.
[PubMed: 579591]
</p>
</li>
<li>
<p class="mim-text-font">
Yagishita, S., Ito, Y., Ikezaki, R.
<strong>Lipomembranous polycystic osteodysplasia.</strong>
Virchows Arch. A Path. Anat. Histol. 372: 245-251, 1976.
[PubMed: 827851]
[Full Text: https://doi.org/10.1007/BF00433283]
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