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- #606693 - KUFOR-RAKEB SYNDROME; KRS
- OMIM
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<span class="h4">#606693</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/606693"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS168600"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(KUFOR-RAKEB SYNDROME) OR (ATP13A2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21249&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Kufor-Rakeb syndrome&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21506&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">CLN12 disease&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK121988/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Kufor-Rakeb syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314632" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">CLN12 disease</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/95158bd6-1363-4481-a684-a9ce66e595b7/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<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>
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</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:0060556" 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/606693" 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><a href="https://omia.org/OMIA001552/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0060556" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</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>
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</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>SNOMEDCT:</strong> 723992000<br />
<strong>ORPHA:</strong> 306674, 314632<br />
<strong>DO:</strong> 0060556<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>
606693
</span>
</span>
</div>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
KUFOR-RAKEB SYNDROME; KRS
</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">
PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET; PARK9<br />
PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS AND DEMENTIA; KRPPD
</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/1/208?start=-3&limit=10&highlight=208">
1p36.13
</a>
</span>
</td>
<td>
<span class="mim-font">
Kufor-Rakeb syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606693"> 606693 </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">
ATP13A2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610513"> 610513 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/606693" 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')">
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<span class="sr-only">Toggle Dropdown</span>
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</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS168600" 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')">
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&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/606693" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/606693" 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> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mask-like facies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103606006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103606006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424448</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000298</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000298</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Supranuclear gaze palsy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/420675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">420675003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1720037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1720037</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000605</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000605</a>]</span><br /> -
Oculogyric dystonic spasms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676002</a>]</span><br /> -
Slow saccades <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404686001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404686001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1321329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1321329</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000514</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000514" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000514</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Anosmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44169009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44169009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R43.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R43.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003126</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000458</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000458</a>]</span><br /> -
Hyposmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83156004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83156004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2364082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2364082</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004409</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004409</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Torticollis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70070008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70070008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M43.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M43.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/723.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">723.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000473" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000473</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000473" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000473</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Parkinsonism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32798002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32798002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G20.C" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G20.C</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span><br /> -
Hypokinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43994002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43994002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255385008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255385008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086439</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002375" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002375</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002375" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002375</a>]</span><br /> -
Akinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33994004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33994004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085623</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002304</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002304</a>]</span><br /> -
Mask-like facies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103606006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103606006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424448</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000298</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000298</a>]</span><br /> -
Rigidity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700109</a>, <a href="https://bioportal.bioontology.org/search?q=C0026837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span><br /> -
Anarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48257004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48257004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1045276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1045276</a>, <a href="https://bioportal.bioontology.org/search?q=C0234517&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234517</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002425</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002425</a>]</span><br /> -
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
Festinating (Parkinsonian) gait <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276658&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276658</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398218008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398218008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397776000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397776000</a>]</span><br /> -
Facial-faucial-finger mini-myoclonus (FFF) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676000&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676000</a>]</span><br /> -
Spastic paraplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192967009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192967009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037772</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span><br /> -
Postural instability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843921</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002172" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002172</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002172" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002172</a>]</span><br /> -
Mild paraparesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847641</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1845001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1845001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G82.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G82.2</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002385</a>]</span><br /> -
Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</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 /> -
Pyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14648003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14648003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span><br /> -
Extrapyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43378000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43378000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span><br /> -
Impaired gait <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 /> -
Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</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 /> -
Seizures (in some patients) <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 /> -
Cognitive decline <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a>, <a href="https://bioportal.bioontology.org/search?q=C0234985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span><br /> -
Dementia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
Generalized cerebral, cerebellar, and brainstem atrophy, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676001&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676001</a>]</span><br /> -
Flattening of the caudate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276660&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276660</a>]</span><br /> -
Atrophy of pyramids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847643</a>]</span><br /> -
Brain iron accumulation in the basal ganglia (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810500&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810500</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Axonal sensorimotor peripheral neuropathy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280978</a>]</span><br /> -
Distal sensory impairment (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847584</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</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">
- Hallucinations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7011001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R44.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R44.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018524</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span><br /> -
Psychotic episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338614&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338614</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000725</a>]</span><br /> -
Aggression <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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in 1 family studied) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315192&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315192</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Average age of onset 13 years<br /> -
Rapidly progressive (6-24 months) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span><br /> -
Variable neurologic phenotype<br /> -
Rapidly progressive (6-24 months) (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span><br /> -
Favorable initial response to L-DOPA<br /> -
Therapy-induced dyskinesias<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the ATPase 13A2 gene (ATP13A2, <a href="/entry/610513#0001">610513.0001</a>)<br />
</span>
</div>
</div>
</div>
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</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Parkinson disease
- <a href="/phenotypicSeries/PS168600">PS168600</a>
- 34 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/115?start=-3&limit=10&highlight=115"> 1p36.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606324"> Parkinson disease 7, autosomal recessive early-onset </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">
<a href="/entry/606324"> 606324 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602533"> DJ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602533"> 602533 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/208?start=-3&limit=10&highlight=208"> 1p36.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606693"> Kufor-Rakeb syndrome </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">
<a href="/entry/606693"> 606693 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610513"> ATP13A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610513"> 610513 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/244?start=-3&limit=10&highlight=244"> 1p36.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605909"> Parkinson disease 6, early onset </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">
<a href="/entry/605909"> 605909 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608309"> PINK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608309"> 608309 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/601?start=-3&limit=10&highlight=601"> 1p32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606852"> {Parkinson disease 10} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606852"> 606852 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606852"> PARK10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606852"> 606852 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/688?start=-3&limit=10&highlight=688"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615528"> Parkinson disease 19a, juvenile-onset </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">
<a href="/entry/615528"> 615528 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608375"> DNAJC6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608375"> 608375 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/688?start=-3&limit=10&highlight=688"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615528"> Parkinson disease 19b, early-onset </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">
<a href="/entry/615528"> 615528 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608375"> DNAJC6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608375"> 608375 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1217?start=-3&limit=10&highlight=1217"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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">
<a href="/entry/168600"> 168600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606463"> GBA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606463"> 606463 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1546?start=-3&limit=10&highlight=1546"> 1q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613164"> {Parkinson disease 16} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613164"> 613164 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613164"> PARK16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613164"> 613164 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/314?start=-3&limit=10&highlight=314"> 2p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602404"> {Parkinson disease 3} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602404"> 602404 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602404"> PARK3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602404"> 602404 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/389?start=-3&limit=10&highlight=389"> 2p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610297"> {Parkinson disease 13} </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
<a href="/entry/610297"> 610297 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606441"> HTRA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606441"> 606441 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1118?start=-3&limit=10&highlight=1118"> 2q37.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607688"> {Parkinson disease 11} </a>
</span>
</td>
<td>
<span class="mim-font">
</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">
<a href="/entry/607688"> 607688 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612003"> GIGYF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612003"> 612003 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/668?start=-3&limit=10&highlight=668"> 3q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616361"> Parkinson disease 21 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616361"> 616361 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616361"> PARK21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616361"> 616361 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/917?start=-3&limit=10&highlight=917"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614251"> {Parkinson disease 18} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614251"> 614251 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600495"> EIF4G1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600495"> 600495 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/174?start=-3&limit=10&highlight=174"> 4p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613643"> {?Parkinson disease 5, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613643"> 613643 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191342"> UCHL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191342"> 191342 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/411?start=-3&limit=10&highlight=411"> 4q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168601"> Parkinson disease 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168601"> 168601 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/163890"> SNCA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/163890"> 163890 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/411?start=-3&limit=10&highlight=411"> 4q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605543"> Parkinson disease 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605543"> 605543 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/163890"> SNCA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/163890"> 163890 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/432?start=-3&limit=10&highlight=432"> 4q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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">
<a href="/entry/168600"> 168600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/103730"> ADH1C </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/103730"> 103730 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/929?start=-3&limit=10&highlight=929"> 6q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620923"> {Parkinson disease 26, autosomal dominant, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620923"> 620923 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612906"> RAB32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612906"> 612906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/1011?start=-3&limit=10&highlight=1011"> 6q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600116"> Parkinson disease, juvenile, type 2 </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">
<a href="/entry/600116"> 600116 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602544"> PRKN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602544"> 602544 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/1041?start=-3&limit=10&highlight=1041"> 6q27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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">
<a href="/entry/168600"> 168600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600075"> TBP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600075"> 600075 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/284?start=-3&limit=10&highlight=284"> 7p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616710"> Parkinson disease 22, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616710"> 616710 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616244"> CHCHD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616244"> 616244 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/565?start=-3&limit=10&highlight=565"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620482"> Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development </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">
<a href="/entry/620482"> 620482 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600756"> PTPA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600756"> 600756 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/283?start=-3&limit=10&highlight=283"> 10q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619491"> {Parkinson disease 24, autosomal dominant, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619491"> 619491 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176801"> PSAP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176801"> 176801 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/290?start=-3&limit=10&highlight=290"> 12q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607060"> {Parkinson disease 8} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607060"> 607060 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609007"> LRRK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609007"> 609007 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/813?start=-3&limit=10&highlight=813"> 12q24.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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">
<a href="/entry/168600"> 168600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601517"> ATXN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601517"> 601517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/213?start=-3&limit=10&highlight=213"> 13q21.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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">
<a href="/entry/168600"> 168600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603680"> ATXN8OS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603680"> 603680 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/466?start=-3&limit=10&highlight=466"> 14q32.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168600"> {Parkinson disease, late-onset, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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">
<a href="/entry/168600"> 168600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607047"> ATXN3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607047"> 607047 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/264?start=-3&limit=10&highlight=264"> 15q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616840"> Parkinson disease 23, autosomal recessive, early onset </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">
<a href="/entry/616840"> 616840 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608879"> VPS13C </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608879"> 608879 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/404?start=-3&limit=10&highlight=404"> 16q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614203"> {Parkinson disease 17} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614203"> 614203 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601501"> VPS35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601501"> 601501 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/663?start=-3&limit=10&highlight=663"> 17q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</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">
<a href="/entry/168600"> 168600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/157140"> MAPT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/157140"> 157140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/62?start=-3&limit=10&highlight=62"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615530"> Parkinson disease 20, early-onset </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">
<a href="/entry/615530"> 615530 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604297"> SYNJ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604297"> 604297 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/204?start=-3&limit=10&highlight=204"> 22q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/260300"> Parkinson disease 15, autosomal recessive </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">
<a href="/entry/260300"> 260300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605648"> FBXO7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605648"> 605648 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/268?start=-3&limit=10&highlight=268"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612953"> Parkinson disease 14, autosomal recessive </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">
<a href="/entry/612953"> 612953 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603604"> PLA2G6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603604"> 603604 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/445?start=-3&limit=10&highlight=445"> Xq21-q25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300557"> {Parkinson disease 12} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300557"> 300557 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300557"> PARK12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300557"> 300557 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that Kufor-Rakeb syndrome (KRS), also known as Parkinson disease-9 (PARK9), is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene (<a href="/entry/610513">610513</a>), which encodes a lysosomal type 5 ATPase, on chromosome 1p36.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see <a href="/entry/234200">234200</a>) (summary by <a href="#2" class="mim-tip-reference" title="Bruggemann, N., Hagenah, J., Reetz, K., Schmidt, A., Kasten, M., Buchmann, I., Eckerle, S., Bahre, M., Munchau, A., Djarmati, A., van der Vegt, J., Siebner, H., Binkofski, F., Ramirez, A., Behrens, M. I., Klein, C. &lt;strong&gt;Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.&lt;/strong&gt; Arch. Neurol. 67: 1357-1363, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21060012/&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;21060012&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneurol.2010.281&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="21060012">Bruggemann et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21060012" 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>For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see <a href="/entry/168600">168600</a>.</p><p>Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; <a href="/entry/617225">617225</a>), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by <a href="#7" class="mim-tip-reference" title="Estrada-Cuzcano, A., Martin, S., Chamova, T., Synofzik, M., Timmann, D., Holemans, T., Andreeva, A., Reichbauer, J., De Rycke, R., Chang, D.-I., van Veen, S., Samuel, J., and 10 others. &lt;strong&gt;Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).&lt;/strong&gt; Brain 140: 287-305, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28137957/&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;28137957&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/aww307&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="28137957">Estrada-Cuzcano et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28137957" 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>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#10" class="mim-tip-reference" title="Najim Al-Din, A. S., Wriekat, A., Mubaidin, A., Dasouki, M., Hiari, M. &lt;strong&gt;Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.&lt;/strong&gt; Acta Neurol. Scand. 89: 347-352, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8085432/&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;8085432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0404.1994.tb02645.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="8085432">Najim Al-Din et al. (1994)</a> reported 5 offspring of a consanguineous Jordanian couple with clinical features similar to those of idiopathic Parkinson disease and pallidopyramidal syndrome (PARK15; <a href="/entry/260300">260300</a>). The family originated from the Kufor-Rakeb region in Jordan. These included a mask-like face, rigidity, and bradykinesia. Rapidly progressive onset of symptoms was between 12 and 16 years of age. Intention tremor was not seen; spasticity, supranuclear upgaze paresis, and dementia were additional features seen in these individuals but not seen in Parkinson disease. Treatment with levodopa resulted in improvement in symptoms. MRI scans of the brain showed globus pallidus atrophy and later generalized brain atrophy. <a href="#10" class="mim-tip-reference" title="Najim Al-Din, A. S., Wriekat, A., Mubaidin, A., Dasouki, M., Hiari, M. &lt;strong&gt;Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.&lt;/strong&gt; Acta Neurol. Scand. 89: 347-352, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8085432/&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;8085432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0404.1994.tb02645.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="8085432">Najim Al-Din et al. (1994)</a> named this Kufor-Rakeb syndrome, after the community from which the affected individuals originated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8085432" 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="Williams, D. R., Hadeed, A., Najim al-Din, A. S., Wreikat, A.-L., Lees, A. J. &lt;strong&gt;Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.&lt;/strong&gt; Mov. Disord. 20: 1264-1271, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15986421/&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;15986421&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.20511&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="15986421">Williams et al. (2005)</a> further characterized the clinical picture in the original Jordanian family and identified several new features, including facial-faucial-finger mini-myoclonus, visual hallucinations, and oculogyric dystonic spasms. The authors noted that neurologic features had a subacute onset, resulting in severe motor handicap within a year of onset and involving the basal ganglia, corticospinal and vertical gaze pathways, and cerebral cortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15986421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Di Fonzo, A., Chien, H. F., Socal, M., Giraudo, S., Tassorelli, C., Iliceto, G., Fabbrini, F., Marconi, R., Fincati, E., Abbruzzese, F., Marini, P., Squitieri, F., and 14 others. &lt;strong&gt;ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.&lt;/strong&gt; Neurology 68: 1557-1562, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17485642/&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;17485642&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000260963.08711.08&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="17485642">Di Fonzo et al. (2007)</a> reported a Brazilian man who was diagnosed with levodopa-responsive parkinsonism at age 12 years. On examination at the age of 18, he had severe akinetic-rigid parkinsonism with episodic levodopa-induced choreic dyskinesias, visual hallucinations, and aggressive behaviors. However, his mental status remained good, and he was cognitively intact between episodes. Other features included supranuclear vertical gaze paresis, diffuse cerebral atrophy, and lip/chin tremor. He did not have myoclonus or tremor in the limbs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17485642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Crosiers, D., Ceulemans, B., Meeus, B., Nuytemans, K., Pals, P., Van Broeckhoven, C., Cras, P., Theuns, J. &lt;strong&gt;Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation. (Letter)&lt;/strong&gt; Parkinsonism Relat. Disord. 17: 135-138, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21094623/&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;21094623&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.parkreldis.2010.10.011&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="21094623">Crosiers et al. (2011)</a> reported a boy, born of consanguineous Afghan parents, with KRS confirmed by genetic analysis (<a href="/entry/610513#0006">610513.0006</a>). The patient had mild mental retardation before onset of fine tremor of the hands and dystonic posturing of the neck at age 10 years. He also had slow vertical saccades, hypomimia, facial myoclonus, and dystonia. Cognitive function deteriorated rapidly, and he had dementia by age 11. Bradykinesia and rigidity were partially responsive to L-DOPA therapy, but he developed dyskinesias. The patient also had visual hallucinations and psychosis, and nuclear imaging showed decreased dopamine transporter binding in the right caudate nucleus and bilateral putamina. The heterozygous deletion was also found in each unaffected parent, as well as in a brother who had mild mental retardation, tremor, and decreased dopamine transporter binding in the putamina. <a href="#4" class="mim-tip-reference" title="Crosiers, D., Ceulemans, B., Meeus, B., Nuytemans, K., Pals, P., Van Broeckhoven, C., Cras, P., Theuns, J. &lt;strong&gt;Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation. (Letter)&lt;/strong&gt; Parkinsonism Relat. Disord. 17: 135-138, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21094623/&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;21094623&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.parkreldis.2010.10.011&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="21094623">Crosiers et al. (2011)</a> speculated that heterozygosity for the mutation may have contributed to the brother's phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21094623" 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="#13" class="mim-tip-reference" title="Santoro, L., Breedveld, G. J., Manganelli, F., Iodice, R., Pisciotta, C., Nolano, M., Punzo, F., Quarantelli, M., Pappata, S., Di Fonzo, A., Oostra, B. A., Bonifati, V. &lt;strong&gt;Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.&lt;/strong&gt; Neurogenetics 12: 33-39, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20853184/&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;20853184&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20853184[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10048-010-0259-0&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="20853184">Santoro et al. (2011)</a> reported 2 Italian brothers with Kufor-Rakeb syndrome who showed marked phenotypic variability. The more severely affected brother, who had a history of perinatal asphyxia, developed slowly progressive parkinsonism at age 10 years, followed by pyramidal signs, extrapyramidal signs, and cognitive impairment. At age 41 years, he showed dysphagia, dysarthria, abnormal eye movements, hypomimia, mini-myoclonus of the facial muscles, dystonia, and spasticity. The 31-year-old brother had difficulty in school, mild gaze palsy, hyperreflexia, mildly increased axial tone, and mild rigidity, but was otherwise asymptomatic. Transcranial magnetic stimulation in both patients showed prolonged central motor conduction times, and brain imaging showed decreased dopamine transporter density in the striatum. There was also cerebral and cerebellar cortical atrophy. There was no evidence of iron accumulation in the basal ganglia. <a href="#13" class="mim-tip-reference" title="Santoro, L., Breedveld, G. J., Manganelli, F., Iodice, R., Pisciotta, C., Nolano, M., Punzo, F., Quarantelli, M., Pappata, S., Di Fonzo, A., Oostra, B. A., Bonifati, V. &lt;strong&gt;Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.&lt;/strong&gt; Neurogenetics 12: 33-39, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20853184/&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;20853184&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20853184[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10048-010-0259-0&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="20853184">Santoro et al. (2011)</a> concluded that unknown modifiers were responsible for the observed intrafamilial phenotypic variation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20853184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Neuroradiologic Features</em></strong></p><p>
<a href="#2" class="mim-tip-reference" title="Bruggemann, N., Hagenah, J., Reetz, K., Schmidt, A., Kasten, M., Buchmann, I., Eckerle, S., Bahre, M., Munchau, A., Djarmati, A., van der Vegt, J., Siebner, H., Binkofski, F., Ramirez, A., Behrens, M. I., Klein, C. &lt;strong&gt;Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.&lt;/strong&gt; Arch. Neurol. 67: 1357-1363, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21060012/&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;21060012&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneurol.2010.281&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="21060012">Bruggemann et al. (2010)</a> reexamined members of the Chilean family with KRS reported by <a href="#11" class="mim-tip-reference" title="Ramirez, A., Heimbach, A., Grundemann, J., Stiller, B., Hampshire, D., Cid, L. P., Goebel, I., Mubaidin, A. F., Wriekat, A.-L., Roeper, J., Al-Din, A., Hillmer, A. M., Karsak, M., Liss, B., Woods, C. G., Behrens, M. I., Kubisch, C. &lt;strong&gt;Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.&lt;/strong&gt; Nature Genet. 38: 1184-1191, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16964263/&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;16964263&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1884&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="16964263">Ramirez et al. (2006)</a>. One 45-year-old patient with the full disorder and compound heterozygous mutations in the ATP13A2 gene (<a href="/entry/610513#0001">610513.0001</a> and <a href="/entry/610513#0002">610513.0002</a>) had parkinsonism with dementia. The 79-year-old mother, who was heterozygous for 1 of the mutations, had parkinsonism and anosmia. Four heterozygous sibs of the proband ranging in age from 48 to 62 years, showed subtle extrapyramidal signs, including reduced arm swing and tremor. Neuroimaging showed markedly reduced dopamine transporter (<a href="/entry/126455">126455</a>) activity in the mother and the fully affected individual, but only a unilateral mild reduction in 1 of the heterozygous sibs. Neuroimaging of the fully affected individual showed decreased loss of gray matter volume in multiple brain regions, including the motor cortices, caudate, thalamus, prefrontal cortex, and cerebellum, and well as evidence of iron accumulation in the basal ganglia. <a href="#2" class="mim-tip-reference" title="Bruggemann, N., Hagenah, J., Reetz, K., Schmidt, A., Kasten, M., Buchmann, I., Eckerle, S., Bahre, M., Munchau, A., Djarmati, A., van der Vegt, J., Siebner, H., Binkofski, F., Ramirez, A., Behrens, M. I., Klein, C. &lt;strong&gt;Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.&lt;/strong&gt; Arch. Neurol. 67: 1357-1363, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21060012/&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;21060012&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneurol.2010.281&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="21060012">Bruggemann et al. (2010)</a> suggested that heterozygous ATP13A2 mutations may cause an age-dependent impairment of nigrostriatal function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21060012+16964263" 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="#14" class="mim-tip-reference" title="Schneider, S. A., Paisan-Ruiz, C., Quinn, N. P., Lees, A. J., Houlden, H., Hardy, J., Bhatia, K. P. &lt;strong&gt;ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.&lt;/strong&gt; Mov. Disord. 25: 979-984, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20310007/&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;20310007&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.22947&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="20310007">Schneider et al. (2010)</a> reported a 40-year-old man, born of consanguineous Pakistani parents, with KRS. He had mild school difficulties in childhood, but onset of major symptoms occurred at age 16, when he presented with behavioral abnormalities and extrapyramidal symptoms. The disorder was progressive, and he developed severe parkinsonism, pyramidal signs, dystonia, restricted ocular movements, and hypomimia. Brain MRI showed diffuse brain atrophy, flattening of the caudate nuclei, and iron deposition in the basal ganglia. Cognition remained relatively intact. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20310007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
<a href="#3" class="mim-tip-reference" title="Carlier, G., Dubru, J. M. &lt;strong&gt;Familial juvenile parkinsonism.&lt;/strong&gt; Acta Paediat. Belg. 32: 123-127, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/495089/&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;495089&lt;/a&gt;]" pmid="495089">Carlier and Dubru (1979)</a> reported 4 Belgian sibs with familial juvenile parkinsonism with onset around age 14 years. Clinical features included progressive stiffness in the limbs, abnormal gait, akinesia, cogwheel rigidity, poor facial expression, and severe dysarthria. The oldest sib developed tremor. Treatment with L-DOPA resulted in clinical improvement. In a follow-up of the family reported by <a href="#3" class="mim-tip-reference" title="Carlier, G., Dubru, J. M. &lt;strong&gt;Familial juvenile parkinsonism.&lt;/strong&gt; Acta Paediat. Belg. 32: 123-127, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/495089/&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;495089&lt;/a&gt;]" pmid="495089">Carlier and Dubru (1979)</a>, <a href="#15" class="mim-tip-reference" title="Tome, F. M. S., Brunet, P., Fardeau, M., Hentati, F., Reix, J. &lt;strong&gt;Familial disorder of the central and peripheral nervous systems with particular cytoplasmic lamellated inclusions in peripheral nerves, muscle satellite cells, and blood capillaries.&lt;/strong&gt; Acta Neuropath. 68: 209-217, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4082923/&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;4082923&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00690197&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="4082923">Tome et al. (1985)</a> noted that the initial symptoms in the affected sibs began at around 8 years of age and consisted of learning difficulties requiring special schooling. Motor difficulties occurred several years later. In addition to parkinsonism, the patients had upper motor neuron signs with spasticity, pseudobulbar syndrome, extrapyramidal symptoms, choreic movements, slow extraocular eye movements, and cognitive decline. Brain imaging showed subcortical and cortical atrophy in 3 patients. All also developed a peripheral neuropathy predominantly manifest as loss of sensation in the distal lower limbs. Sural nerve and muscle biopsy of 2 patients showed concentric lamellar osmiophilic inclusions suggestive of a storage deposit disease, which the authors concluded did not resemble those seen in neuronal ceroid lipofuscinosis (see, e.g., CLN1, <a href="/entry/256730">256730</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=495089+4082923" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="De Volder, A. G., Cirelli, S., de Barsy, T., Brucher, J. M., Bol, A., Michel, C., Goffinet, A. M. &lt;strong&gt;Neuronal ceroid-lipofuscinosis: preferential metabolic alterations in thalamus and posterior association cortex demonstrated by PET.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 53: 1063-1067, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2292699/&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;2292699&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp.53.12.1063&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="2292699">De Volder et al. (1990)</a> concluded that the Belgian sibs reported by <a href="#3" class="mim-tip-reference" title="Carlier, G., Dubru, J. M. &lt;strong&gt;Familial juvenile parkinsonism.&lt;/strong&gt; Acta Paediat. Belg. 32: 123-127, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/495089/&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;495089&lt;/a&gt;]" pmid="495089">Carlier and Dubru (1979)</a> had a form of neuronal ceroid lipofuscinosis with vacuolated lymphocytes observed in all patients. Nerve and muscle biopsy from the oldest sib showed autofluorescent lipopigments and fingerprint-like profiles. This patient, who was the most severely affected, also had seizures, myoclonic jerks, urinary incontinence, and severe intellectual impairment. PET scanning of all 4 sibs revealed a decrease of glucose utilization in all gray structures but more marked at the level of the thalamus and posterior association cortex. The severity of metabolic anomalies correlated with the degree of clinical impairment and with disease duration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2292699+495089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bras, J., Verloes, A., Schneider, S. A., Mole, S. E., Guerreiro, R. J. &lt;strong&gt;Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.&lt;/strong&gt; Hum. Molec. Genet. 21: 2646-2650, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22388936/&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;22388936&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22388936[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/dds089&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="22388936">Bras et al. (2012)</a> noted that the patients in the Belgian family developed dyskinesias following L-DOPA treatment. The oldest patient became wheelchair-bound at age 25 years and died of pulmonary embolism at age 36. Postmortem examination showed abundant neuronal and glial lipofuscinosis involving the cortex, basal nuclei, and cerebellum, with whorled lamellar inclusions typical of CLN in electron microscopy. Lipofuscin deposits were confirmed in the retina, although she had no apparent retinal involvement. The entity in this family was referred to by <a href="#1" class="mim-tip-reference" title="Bras, J., Verloes, A., Schneider, S. A., Mole, S. E., Guerreiro, R. J. &lt;strong&gt;Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.&lt;/strong&gt; Hum. Molec. Genet. 21: 2646-2650, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22388936/&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;22388936&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22388936[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/dds089&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="22388936">Bras et al. (2012)</a> as neuronal ceroid lipofuscinosis (CLN12). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22388936" 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><a href="#10" class="mim-tip-reference" title="Najim Al-Din, A. S., Wriekat, A., Mubaidin, A., Dasouki, M., Hiari, M. &lt;strong&gt;Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.&lt;/strong&gt; Acta Neurol. Scand. 89: 347-352, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8085432/&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;8085432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0404.1994.tb02645.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="8085432">Najim Al-Din et al. (1994)</a> concluded that autosomal recessive inheritance of Kufor-Rakeb was likely because the unaffected parents in the family they reported were consanguineous, 5 of their 9 offspring were affected, and 1 was female. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8085432" 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="clinicalManagement" class="mim-anchor"></a>
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<strong>Clinical Management</strong>
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<p><a href="#10" class="mim-tip-reference" title="Najim Al-Din, A. S., Wriekat, A., Mubaidin, A., Dasouki, M., Hiari, M. &lt;strong&gt;Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.&lt;/strong&gt; Acta Neurol. Scand. 89: 347-352, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8085432/&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;8085432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0404.1994.tb02645.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="8085432">Najim Al-Din et al. (1994)</a> described variable but dramatic improvement, limited to extrapyramidal manifestations, within 48 hours in response to levodopa therapy in all of their patients. However, only those with the shortest disease duration were rendered almost normal regarding the extrapyramidal manifestations. <a href="#16" class="mim-tip-reference" title="Williams, D. R., Hadeed, A., Najim al-Din, A. S., Wreikat, A.-L., Lees, A. J. &lt;strong&gt;Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.&lt;/strong&gt; Mov. Disord. 20: 1264-1271, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15986421/&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;15986421&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.20511&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="15986421">Williams et al. (2005)</a> noted the occurrence of a striking and sustained but waning response to L-DOPA, describing narrowing of the therapeutic window with the emergence of peak-dose dyskinesias, increased spasticity, and cognitive decline. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8085432+15986421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By use of autozygosity mapping in the kindred studied by <a href="#10" class="mim-tip-reference" title="Najim Al-Din, A. S., Wriekat, A., Mubaidin, A., Dasouki, M., Hiari, M. &lt;strong&gt;Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.&lt;/strong&gt; Acta Neurol. Scand. 89: 347-352, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8085432/&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;8085432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1600-0404.1994.tb02645.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="8085432">Najim Al-Din et al. (1994)</a>, <a href="#9" class="mim-tip-reference" title="Hampshire, D. J., Roberts, E., Crow, Y., Bond, J., Mubaidin, A., Wriekat, A.-L., Al-Din, A., Woods, C. G. &lt;strong&gt;Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.&lt;/strong&gt; J. Med. Genet. 38: 680-682, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11584046/&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;11584046&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.38.10.680&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="11584046">Hampshire et al. (2001)</a> identified a 9-cM region between markers D1S436 and D1S2843 on chromosome 1p36 likely to contain the gene associated with this phenotype. A maximum multipoint lod score of 3.6 was obtained for the region containing markers D1S1592, D1S2826, D1S2644, and D1S199. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8085432+11584046" 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="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>By mutation screening or linkage analysis, <a href="#11" class="mim-tip-reference" title="Ramirez, A., Heimbach, A., Grundemann, J., Stiller, B., Hampshire, D., Cid, L. P., Goebel, I., Mubaidin, A. F., Wriekat, A.-L., Roeper, J., Al-Din, A., Hillmer, A. M., Karsak, M., Liss, B., Woods, C. G., Behrens, M. I., Kubisch, C. &lt;strong&gt;Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.&lt;/strong&gt; Nature Genet. 38: 1184-1191, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16964263/&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;16964263&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1884&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="16964263">Ramirez et al. (2006)</a> excluded known autosomal recessive Parkinson disease genes and loci from involvement in the phenotype in a large nonconsanguineous Chilean family. They found linkage to a 23-cM region bordered by D1S2736 and D1S2644, between the PARK7 (<a href="/entry/606324">606324</a>) and PARK6 (<a href="/entry/605909">605909</a>) loci. Using sequence analysis, <a href="#11" class="mim-tip-reference" title="Ramirez, A., Heimbach, A., Grundemann, J., Stiller, B., Hampshire, D., Cid, L. P., Goebel, I., Mubaidin, A. F., Wriekat, A.-L., Roeper, J., Al-Din, A., Hillmer, A. M., Karsak, M., Liss, B., Woods, C. G., Behrens, M. I., Kubisch, C. &lt;strong&gt;Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.&lt;/strong&gt; Nature Genet. 38: 1184-1191, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16964263/&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;16964263&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1884&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="16964263">Ramirez et al. (2006)</a> found loss-of-function mutations in a predominantly neuronal P-type ATPase gene, ATP13A2 (<a href="/entry/610513">610513</a>), as the cause of Kufor-Rakeb syndrome. Affected members of the Chilean family were compound heterozygous for a deletion and a splice site mutation (see <a href="/entry/610513#0001">610513.0001</a>), and affected members of the original Jordanian family were homozygous for 22-bp duplication in exon 16 (<a href="/entry/610513#0003">610513.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16964263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Brazilian man with KRS, <a href="#6" class="mim-tip-reference" title="Di Fonzo, A., Chien, H. F., Socal, M., Giraudo, S., Tassorelli, C., Iliceto, G., Fabbrini, F., Marconi, R., Fincati, E., Abbruzzese, F., Marini, P., Squitieri, F., and 14 others. &lt;strong&gt;ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.&lt;/strong&gt; Neurology 68: 1557-1562, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17485642/&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;17485642&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000260963.08711.08&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="17485642">Di Fonzo et al. (2007)</a> identified a homozygous mutation in the ATP13A2 gene (G504R; <a href="/entry/610513#0004">610513.0004</a>). Two unrelated Italian patients with early-onset parkinsonism at age 30 and 40 years, respectively, carried heterozygous ATP13A2 mutations, suggesting that heterozygous mutations may increase risk for development of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17485642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 40-year-old man, born of consanguineous Pakistani parents, with KRS, <a href="#14" class="mim-tip-reference" title="Schneider, S. A., Paisan-Ruiz, C., Quinn, N. P., Lees, A. J., Houlden, H., Hardy, J., Bhatia, K. P. &lt;strong&gt;ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.&lt;/strong&gt; Mov. Disord. 25: 979-984, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20310007/&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;20310007&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.22947&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="20310007">Schneider et al. (2010)</a> identified a homozygous 2-bp insertion in the ATP13A2 gene (<a href="/entry/610513#0005">610513.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20310007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Italian brothers with Kufor-Rakeb syndrome, <a href="#13" class="mim-tip-reference" title="Santoro, L., Breedveld, G. J., Manganelli, F., Iodice, R., Pisciotta, C., Nolano, M., Punzo, F., Quarantelli, M., Pappata, S., Di Fonzo, A., Oostra, B. A., Bonifati, V. &lt;strong&gt;Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.&lt;/strong&gt; Neurogenetics 12: 33-39, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20853184/&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;20853184&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20853184[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10048-010-0259-0&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="20853184">Santoro et al. (2011)</a> identified a homozygous missense mutation in the ATP13A2 gene (G877R; <a href="/entry/610513#0008">610513.0008</a>). Each brother and the unaffected mother also carried a heterozygous R481C mutation in the FBXO7 gene (<a href="/entry/605648">605648</a>); biallelic mutation in the FBXO7 gene causes early-onset PARK15 (<a href="/entry/260300">260300</a>). The FBXO7 mutation occurred at a highly conserved residue and was not found in 318 control chromosomes, but the significance of this finding was unclear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20853184" 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 3 Belgian sibs with KRS, originally reported by <a href="#3" class="mim-tip-reference" title="Carlier, G., Dubru, J. M. &lt;strong&gt;Familial juvenile parkinsonism.&lt;/strong&gt; Acta Paediat. Belg. 32: 123-127, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/495089/&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;495089&lt;/a&gt;]" pmid="495089">Carlier and Dubru (1979)</a>, <a href="#1" class="mim-tip-reference" title="Bras, J., Verloes, A., Schneider, S. A., Mole, S. E., Guerreiro, R. J. &lt;strong&gt;Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.&lt;/strong&gt; Hum. Molec. Genet. 21: 2646-2650, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22388936/&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;22388936&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22388936[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/dds089&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="22388936">Bras et al. (2012)</a> identified a homozygous missense mutation in the ATP13A2 gene (M810R; <a href="/entry/610513#0007">610513.0007</a>). The mutation was found by exome sequencing and segregated with the disorder in the family. It was not present in the dbSNP (build 135) or 1000 Genomes Project databases. Functional studies were not performed. Because some of the patients had neuropathologic findings consistent with neuronal ceroid lipofuscinosis, <a href="#1" class="mim-tip-reference" title="Bras, J., Verloes, A., Schneider, S. A., Mole, S. E., Guerreiro, R. J. &lt;strong&gt;Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.&lt;/strong&gt; Hum. Molec. Genet. 21: 2646-2650, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22388936/&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;22388936&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22388936[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/dds089&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="22388936">Bras et al. (2012)</a> designated the disorder CLN12. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22388936+495089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Farias, F. H. G., Zeng, R., Johnson, G. S., Wininger, F. A., Taylor, J. F., Schnabel, R. D., McKay, S. D., Sanders, D. N., Lohi, H., Seppala, E. H., Wade, C. M., Lindblad-Toh, K., O&#x27;Brien, D. P., Katz, M. L. &lt;strong&gt;A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.&lt;/strong&gt; Neurobiol. Dis. 42: 468-474, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21362476/&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;21362476&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nbd.2011.02.009&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="21362476">Farias et al. (2011)</a> determined that a homozygous truncating mutation (1623delC) in exon 16 of the Atp13a2 gene is responsible for autosomal recessive, adult-onset neuronal ceroid lipofuscinosis (NCL) in Tibetan terriers (<a href="#12" class="mim-tip-reference" title="Riis, R. C., Cummings, J. F., Loew, E. R., de Lahunta, A. &lt;strong&gt;Tibetan terrier model of canine ceroid lipofuscinosis.&lt;/strong&gt; Am. J. Med. Genet. 42: 615-621, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1609844/&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;1609844&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420437&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="1609844">Riis et al., 1992</a>). Behavioral changes in these dogs were first noted between age 4 and 9 years, and brain tissue showed autofluorescent membrane-bound cytoplasmic inclusions with varied ultrastructure in neurons, consistent with a diagnosis of NCL. Although homozygous truncating mutations in human ATP13A2 cause Kufor-Rakeb syndrome (KRS), another neurodegenerative disease, the phenotype differs between terriers and humans. Tibetan terriers with NCL develop cerebellar ataxia not reported in KRS patients, and KRS patients exhibit parkinsonism and pyramidal dysfunction not observed in affected Tibetan terriers. However, both show generalized brain atrophy, behavioral changes, and cognitive decline. The findings suggested that KRS may be a type of adult-onset NCL; however, sequencing of the ATP13A2 gene in 28 patients with adult-onset NCL (Kufs disease; CLN4A, <a href="/entry/204300">204300</a>) failed to reveal any variants likely to be disease-causing. Analysis of brain tissue from patients with KRS is necessary to confirm the hypothesis that KRS is a neuronal ceroid lipofuscinosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21362476+1609844" 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="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>
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<a id="1" class="mim-anchor"></a>
<a id="Bras2012" class="mim-anchor"></a>
<div class="">
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Bras, J., Verloes, A., Schneider, S. A., Mole, S. E., Guerreiro, R. J.
<strong>Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.</strong>
Hum. Molec. Genet. 21: 2646-2650, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22388936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22388936</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22388936[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22388936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/dds089" target="_blank">Full Text</a>]
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<a id="Bruggemann2010" class="mim-anchor"></a>
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Bruggemann, N., Hagenah, J., Reetz, K., Schmidt, A., Kasten, M., Buchmann, I., Eckerle, S., Bahre, M., Munchau, A., Djarmati, A., van der Vegt, J., Siebner, H., Binkofski, F., Ramirez, A., Behrens, M. I., Klein, C.
<strong>Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.</strong>
Arch. Neurol. 67: 1357-1363, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21060012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21060012</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21060012" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archneurol.2010.281" target="_blank">Full Text</a>]
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<a id="Carlier1979" class="mim-anchor"></a>
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Carlier, G., Dubru, J. M.
<strong>Familial juvenile parkinsonism.</strong>
Acta Paediat. Belg. 32: 123-127, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/495089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">495089</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=495089" 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="Crosiers2011" class="mim-anchor"></a>
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Crosiers, D., Ceulemans, B., Meeus, B., Nuytemans, K., Pals, P., Van Broeckhoven, C., Cras, P., Theuns, J.
<strong>Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation. (Letter)</strong>
Parkinsonism Relat. Disord. 17: 135-138, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21094623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21094623</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21094623" 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/j.parkreldis.2010.10.011" target="_blank">Full Text</a>]
</p>
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<a id="De Volder1990" class="mim-anchor"></a>
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De Volder, A. G., Cirelli, S., de Barsy, T., Brucher, J. M., Bol, A., Michel, C., Goffinet, A. M.
<strong>Neuronal ceroid-lipofuscinosis: preferential metabolic alterations in thalamus and posterior association cortex demonstrated by PET.</strong>
J. Neurol. Neurosurg. Psychiat. 53: 1063-1067, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2292699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2292699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2292699" 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/jnnp.53.12.1063" target="_blank">Full Text</a>]
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<a id="Di Fonzo2007" class="mim-anchor"></a>
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Di Fonzo, A., Chien, H. F., Socal, M., Giraudo, S., Tassorelli, C., Iliceto, G., Fabbrini, F., Marconi, R., Fincati, E., Abbruzzese, F., Marini, P., Squitieri, F., and 14 others.
<strong>ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.</strong>
Neurology 68: 1557-1562, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17485642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17485642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17485642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000260963.08711.08" target="_blank">Full Text</a>]
</p>
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<a id="7" class="mim-anchor"></a>
<a id="Estrada-Cuzcano2017" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Estrada-Cuzcano, A., Martin, S., Chamova, T., Synofzik, M., Timmann, D., Holemans, T., Andreeva, A., Reichbauer, J., De Rycke, R., Chang, D.-I., van Veen, S., Samuel, J., and 10 others.
<strong>Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).</strong>
Brain 140: 287-305, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28137957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28137957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28137957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/brain/aww307" target="_blank">Full Text</a>]
</p>
</div>
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<a id="8" class="mim-anchor"></a>
<a id="Farias2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Farias, F. H. G., Zeng, R., Johnson, G. S., Wininger, F. A., Taylor, J. F., Schnabel, R. D., McKay, S. D., Sanders, D. N., Lohi, H., Seppala, E. H., Wade, C. M., Lindblad-Toh, K., O'Brien, D. P., Katz, M. L.
<strong>A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.</strong>
Neurobiol. Dis. 42: 468-474, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21362476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21362476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21362476" 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/j.nbd.2011.02.009" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Hampshire2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hampshire, D. J., Roberts, E., Crow, Y., Bond, J., Mubaidin, A., Wriekat, A.-L., Al-Din, A., Woods, C. G.
<strong>Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.</strong>
J. Med. Genet. 38: 680-682, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11584046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11584046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11584046" 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.38.10.680" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Najim Al-Din1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Najim Al-Din, A. S., Wriekat, A., Mubaidin, A., Dasouki, M., Hiari, M.
<strong>Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.</strong>
Acta Neurol. Scand. 89: 347-352, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8085432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8085432</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8085432" 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.tb02645.x" target="_blank">Full Text</a>]
</p>
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<a id="Ramirez2006" class="mim-anchor"></a>
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Ramirez, A., Heimbach, A., Grundemann, J., Stiller, B., Hampshire, D., Cid, L. P., Goebel, I., Mubaidin, A. F., Wriekat, A.-L., Roeper, J., Al-Din, A., Hillmer, A. M., Karsak, M., Liss, B., Woods, C. G., Behrens, M. I., Kubisch, C.
<strong>Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.</strong>
Nature Genet. 38: 1184-1191, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16964263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16964263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16964263" 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/ng1884" target="_blank">Full Text</a>]
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Riis, R. C., Cummings, J. F., Loew, E. R., de Lahunta, A.
<strong>Tibetan terrier model of canine ceroid lipofuscinosis.</strong>
Am. J. Med. Genet. 42: 615-621, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1609844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1609844</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1609844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320420437" target="_blank">Full Text</a>]
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<a id="Santoro2011" class="mim-anchor"></a>
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Santoro, L., Breedveld, G. J., Manganelli, F., Iodice, R., Pisciotta, C., Nolano, M., Punzo, F., Quarantelli, M., Pappata, S., Di Fonzo, A., Oostra, B. A., Bonifati, V.
<strong>Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.</strong>
Neurogenetics 12: 33-39, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20853184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20853184</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20853184[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20853184" 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/s10048-010-0259-0" target="_blank">Full Text</a>]
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<a id="Schneider2010" class="mim-anchor"></a>
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Schneider, S. A., Paisan-Ruiz, C., Quinn, N. P., Lees, A. J., Houlden, H., Hardy, J., Bhatia, K. P.
<strong>ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.</strong>
Mov. Disord. 25: 979-984, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20310007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20310007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20310007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/mds.22947" target="_blank">Full Text</a>]
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<a id="Tome1985" class="mim-anchor"></a>
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Tome, F. M. S., Brunet, P., Fardeau, M., Hentati, F., Reix, J.
<strong>Familial disorder of the central and peripheral nervous systems with particular cytoplasmic lamellated inclusions in peripheral nerves, muscle satellite cells, and blood capillaries.</strong>
Acta Neuropath. 68: 209-217, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4082923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4082923</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4082923" 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/BF00690197" target="_blank">Full Text</a>]
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<a id="Williams2005" class="mim-anchor"></a>
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Williams, D. R., Hadeed, A., Najim al-Din, A. S., Wreikat, A.-L., Lees, A. J.
<strong>Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.</strong>
Mov. Disord. 20: 1264-1271, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15986421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15986421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15986421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/mds.20511" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 11/23/2016
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Cassandra L. Kniffin - updated : 10/9/2013<br>Cassandra L. Kniffin - updated : 10/18/2011<br>Cassandra L. Kniffin - updated : 6/21/2011<br>Cassandra L. Kniffin - updated : 2/24/2011<br>Cassandra L. Kniffin - updated : 12/27/2007<br>Victor A. McKusick - updated : 10/26/2006
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Michael J. Wright : 2/15/2002
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carol : 10/14/2019
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carol : 02/01/2017<br>carol : 01/11/2017<br>carol : 01/10/2017<br>ckniffin : 11/23/2016<br>carol : 03/28/2016<br>mcolton : 2/24/2014<br>carol : 2/19/2014<br>carol : 10/10/2013<br>carol : 10/10/2013<br>ckniffin : 10/9/2013<br>alopez : 6/27/2013<br>carol : 10/27/2011<br>ckniffin : 10/18/2011<br>wwang : 7/7/2011<br>ckniffin : 6/21/2011<br>wwang : 3/7/2011<br>ckniffin : 2/24/2011<br>ckniffin : 11/17/2010<br>wwang : 3/25/2009<br>wwang : 1/15/2008<br>ckniffin : 12/27/2007<br>terry : 9/17/2007<br>alopez : 10/30/2006<br>alopez : 10/30/2006<br>terry : 10/26/2006<br>alopez : 8/18/2006<br>alopez : 3/17/2004<br>carol : 4/22/2003<br>alopez : 2/15/2002<br>alopez : 2/15/2002<br>alopez : 2/15/2002
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<strong>#</strong> 606693
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KUFOR-RAKEB SYNDROME; KRS
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<em>Alternative titles; symbols</em>
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PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET; PARK9<br />
PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS AND DEMENTIA; KRPPD
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<strong>SNOMEDCT:</strong> 723992000; &nbsp;
<strong>ORPHA:</strong> 306674, 314632; &nbsp;
<strong>DO:</strong> 0060556; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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1p36.13
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Kufor-Rakeb syndrome
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606693
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Autosomal recessive
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3
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ATP13A2
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610513
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Kufor-Rakeb syndrome (KRS), also known as Parkinson disease-9 (PARK9), is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene (610513), which encodes a lysosomal type 5 ATPase, on chromosome 1p36.</p>
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<strong>Description</strong>
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<p>Kufor-Rakeb syndrome is a rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, spasticity, and dementia. Some patients have neuroradiologic evidence of iron deposition in the basal ganglia, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see 234200) (summary by Bruggemann et al., 2010). </p><p>For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600.</p><p>Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017). </p>
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<strong>Clinical Features</strong>
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<p>Najim Al-Din et al. (1994) reported 5 offspring of a consanguineous Jordanian couple with clinical features similar to those of idiopathic Parkinson disease and pallidopyramidal syndrome (PARK15; 260300). The family originated from the Kufor-Rakeb region in Jordan. These included a mask-like face, rigidity, and bradykinesia. Rapidly progressive onset of symptoms was between 12 and 16 years of age. Intention tremor was not seen; spasticity, supranuclear upgaze paresis, and dementia were additional features seen in these individuals but not seen in Parkinson disease. Treatment with levodopa resulted in improvement in symptoms. MRI scans of the brain showed globus pallidus atrophy and later generalized brain atrophy. Najim Al-Din et al. (1994) named this Kufor-Rakeb syndrome, after the community from which the affected individuals originated. </p><p>Williams et al. (2005) further characterized the clinical picture in the original Jordanian family and identified several new features, including facial-faucial-finger mini-myoclonus, visual hallucinations, and oculogyric dystonic spasms. The authors noted that neurologic features had a subacute onset, resulting in severe motor handicap within a year of onset and involving the basal ganglia, corticospinal and vertical gaze pathways, and cerebral cortex. </p><p>Di Fonzo et al. (2007) reported a Brazilian man who was diagnosed with levodopa-responsive parkinsonism at age 12 years. On examination at the age of 18, he had severe akinetic-rigid parkinsonism with episodic levodopa-induced choreic dyskinesias, visual hallucinations, and aggressive behaviors. However, his mental status remained good, and he was cognitively intact between episodes. Other features included supranuclear vertical gaze paresis, diffuse cerebral atrophy, and lip/chin tremor. He did not have myoclonus or tremor in the limbs. </p><p>Crosiers et al. (2011) reported a boy, born of consanguineous Afghan parents, with KRS confirmed by genetic analysis (610513.0006). The patient had mild mental retardation before onset of fine tremor of the hands and dystonic posturing of the neck at age 10 years. He also had slow vertical saccades, hypomimia, facial myoclonus, and dystonia. Cognitive function deteriorated rapidly, and he had dementia by age 11. Bradykinesia and rigidity were partially responsive to L-DOPA therapy, but he developed dyskinesias. The patient also had visual hallucinations and psychosis, and nuclear imaging showed decreased dopamine transporter binding in the right caudate nucleus and bilateral putamina. The heterozygous deletion was also found in each unaffected parent, as well as in a brother who had mild mental retardation, tremor, and decreased dopamine transporter binding in the putamina. Crosiers et al. (2011) speculated that heterozygosity for the mutation may have contributed to the brother's phenotype. </p><p>Santoro et al. (2011) reported 2 Italian brothers with Kufor-Rakeb syndrome who showed marked phenotypic variability. The more severely affected brother, who had a history of perinatal asphyxia, developed slowly progressive parkinsonism at age 10 years, followed by pyramidal signs, extrapyramidal signs, and cognitive impairment. At age 41 years, he showed dysphagia, dysarthria, abnormal eye movements, hypomimia, mini-myoclonus of the facial muscles, dystonia, and spasticity. The 31-year-old brother had difficulty in school, mild gaze palsy, hyperreflexia, mildly increased axial tone, and mild rigidity, but was otherwise asymptomatic. Transcranial magnetic stimulation in both patients showed prolonged central motor conduction times, and brain imaging showed decreased dopamine transporter density in the striatum. There was also cerebral and cerebellar cortical atrophy. There was no evidence of iron accumulation in the basal ganglia. Santoro et al. (2011) concluded that unknown modifiers were responsible for the observed intrafamilial phenotypic variation. </p><p><strong><em>Neuroradiologic Features</em></strong></p><p>
Bruggemann et al. (2010) reexamined members of the Chilean family with KRS reported by Ramirez et al. (2006). One 45-year-old patient with the full disorder and compound heterozygous mutations in the ATP13A2 gene (610513.0001 and 610513.0002) had parkinsonism with dementia. The 79-year-old mother, who was heterozygous for 1 of the mutations, had parkinsonism and anosmia. Four heterozygous sibs of the proband ranging in age from 48 to 62 years, showed subtle extrapyramidal signs, including reduced arm swing and tremor. Neuroimaging showed markedly reduced dopamine transporter (126455) activity in the mother and the fully affected individual, but only a unilateral mild reduction in 1 of the heterozygous sibs. Neuroimaging of the fully affected individual showed decreased loss of gray matter volume in multiple brain regions, including the motor cortices, caudate, thalamus, prefrontal cortex, and cerebellum, and well as evidence of iron accumulation in the basal ganglia. Bruggemann et al. (2010) suggested that heterozygous ATP13A2 mutations may cause an age-dependent impairment of nigrostriatal function. </p><p>Schneider et al. (2010) reported a 40-year-old man, born of consanguineous Pakistani parents, with KRS. He had mild school difficulties in childhood, but onset of major symptoms occurred at age 16, when he presented with behavioral abnormalities and extrapyramidal symptoms. The disorder was progressive, and he developed severe parkinsonism, pyramidal signs, dystonia, restricted ocular movements, and hypomimia. Brain MRI showed diffuse brain atrophy, flattening of the caudate nuclei, and iron deposition in the basal ganglia. Cognition remained relatively intact. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Carlier and Dubru (1979) reported 4 Belgian sibs with familial juvenile parkinsonism with onset around age 14 years. Clinical features included progressive stiffness in the limbs, abnormal gait, akinesia, cogwheel rigidity, poor facial expression, and severe dysarthria. The oldest sib developed tremor. Treatment with L-DOPA resulted in clinical improvement. In a follow-up of the family reported by Carlier and Dubru (1979), Tome et al. (1985) noted that the initial symptoms in the affected sibs began at around 8 years of age and consisted of learning difficulties requiring special schooling. Motor difficulties occurred several years later. In addition to parkinsonism, the patients had upper motor neuron signs with spasticity, pseudobulbar syndrome, extrapyramidal symptoms, choreic movements, slow extraocular eye movements, and cognitive decline. Brain imaging showed subcortical and cortical atrophy in 3 patients. All also developed a peripheral neuropathy predominantly manifest as loss of sensation in the distal lower limbs. Sural nerve and muscle biopsy of 2 patients showed concentric lamellar osmiophilic inclusions suggestive of a storage deposit disease, which the authors concluded did not resemble those seen in neuronal ceroid lipofuscinosis (see, e.g., CLN1, 256730). </p><p>De Volder et al. (1990) concluded that the Belgian sibs reported by Carlier and Dubru (1979) had a form of neuronal ceroid lipofuscinosis with vacuolated lymphocytes observed in all patients. Nerve and muscle biopsy from the oldest sib showed autofluorescent lipopigments and fingerprint-like profiles. This patient, who was the most severely affected, also had seizures, myoclonic jerks, urinary incontinence, and severe intellectual impairment. PET scanning of all 4 sibs revealed a decrease of glucose utilization in all gray structures but more marked at the level of the thalamus and posterior association cortex. The severity of metabolic anomalies correlated with the degree of clinical impairment and with disease duration. </p><p>Bras et al. (2012) noted that the patients in the Belgian family developed dyskinesias following L-DOPA treatment. The oldest patient became wheelchair-bound at age 25 years and died of pulmonary embolism at age 36. Postmortem examination showed abundant neuronal and glial lipofuscinosis involving the cortex, basal nuclei, and cerebellum, with whorled lamellar inclusions typical of CLN in electron microscopy. Lipofuscin deposits were confirmed in the retina, although she had no apparent retinal involvement. The entity in this family was referred to by Bras et al. (2012) as neuronal ceroid lipofuscinosis (CLN12). </p>
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<strong>Inheritance</strong>
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<p>Najim Al-Din et al. (1994) concluded that autosomal recessive inheritance of Kufor-Rakeb was likely because the unaffected parents in the family they reported were consanguineous, 5 of their 9 offspring were affected, and 1 was female. </p>
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<strong>Clinical Management</strong>
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<p>Najim Al-Din et al. (1994) described variable but dramatic improvement, limited to extrapyramidal manifestations, within 48 hours in response to levodopa therapy in all of their patients. However, only those with the shortest disease duration were rendered almost normal regarding the extrapyramidal manifestations. Williams et al. (2005) noted the occurrence of a striking and sustained but waning response to L-DOPA, describing narrowing of the therapeutic window with the emergence of peak-dose dyskinesias, increased spasticity, and cognitive decline. </p>
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<strong>Mapping</strong>
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<p>By use of autozygosity mapping in the kindred studied by Najim Al-Din et al. (1994), Hampshire et al. (2001) identified a 9-cM region between markers D1S436 and D1S2843 on chromosome 1p36 likely to contain the gene associated with this phenotype. A maximum multipoint lod score of 3.6 was obtained for the region containing markers D1S1592, D1S2826, D1S2644, and D1S199. </p>
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<strong>Molecular Genetics</strong>
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<p>By mutation screening or linkage analysis, Ramirez et al. (2006) excluded known autosomal recessive Parkinson disease genes and loci from involvement in the phenotype in a large nonconsanguineous Chilean family. They found linkage to a 23-cM region bordered by D1S2736 and D1S2644, between the PARK7 (606324) and PARK6 (605909) loci. Using sequence analysis, Ramirez et al. (2006) found loss-of-function mutations in a predominantly neuronal P-type ATPase gene, ATP13A2 (610513), as the cause of Kufor-Rakeb syndrome. Affected members of the Chilean family were compound heterozygous for a deletion and a splice site mutation (see 610513.0001), and affected members of the original Jordanian family were homozygous for 22-bp duplication in exon 16 (610513.0003). </p><p>In a Brazilian man with KRS, Di Fonzo et al. (2007) identified a homozygous mutation in the ATP13A2 gene (G504R; 610513.0004). Two unrelated Italian patients with early-onset parkinsonism at age 30 and 40 years, respectively, carried heterozygous ATP13A2 mutations, suggesting that heterozygous mutations may increase risk for development of the disease. </p><p>In a 40-year-old man, born of consanguineous Pakistani parents, with KRS, Schneider et al. (2010) identified a homozygous 2-bp insertion in the ATP13A2 gene (610513.0005). </p><p>In 2 Italian brothers with Kufor-Rakeb syndrome, Santoro et al. (2011) identified a homozygous missense mutation in the ATP13A2 gene (G877R; 610513.0008). Each brother and the unaffected mother also carried a heterozygous R481C mutation in the FBXO7 gene (605648); biallelic mutation in the FBXO7 gene causes early-onset PARK15 (260300). The FBXO7 mutation occurred at a highly conserved residue and was not found in 318 control chromosomes, but the significance of this finding was unclear. </p><p>In 3 Belgian sibs with KRS, originally reported by Carlier and Dubru (1979), Bras et al. (2012) identified a homozygous missense mutation in the ATP13A2 gene (M810R; 610513.0007). The mutation was found by exome sequencing and segregated with the disorder in the family. It was not present in the dbSNP (build 135) or 1000 Genomes Project databases. Functional studies were not performed. Because some of the patients had neuropathologic findings consistent with neuronal ceroid lipofuscinosis, Bras et al. (2012) designated the disorder CLN12. </p>
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<h4>
<span class="mim-font">
<strong>Animal Model</strong>
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<p>Farias et al. (2011) determined that a homozygous truncating mutation (1623delC) in exon 16 of the Atp13a2 gene is responsible for autosomal recessive, adult-onset neuronal ceroid lipofuscinosis (NCL) in Tibetan terriers (Riis et al., 1992). Behavioral changes in these dogs were first noted between age 4 and 9 years, and brain tissue showed autofluorescent membrane-bound cytoplasmic inclusions with varied ultrastructure in neurons, consistent with a diagnosis of NCL. Although homozygous truncating mutations in human ATP13A2 cause Kufor-Rakeb syndrome (KRS), another neurodegenerative disease, the phenotype differs between terriers and humans. Tibetan terriers with NCL develop cerebellar ataxia not reported in KRS patients, and KRS patients exhibit parkinsonism and pyramidal dysfunction not observed in affected Tibetan terriers. However, both show generalized brain atrophy, behavioral changes, and cognitive decline. The findings suggested that KRS may be a type of adult-onset NCL; however, sequencing of the ATP13A2 gene in 28 patients with adult-onset NCL (Kufs disease; CLN4A, 204300) failed to reveal any variants likely to be disease-causing. Analysis of brain tissue from patients with KRS is necessary to confirm the hypothesis that KRS is a neuronal ceroid lipofuscinosis. </p>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Bras, J., Verloes, A., Schneider, S. A., Mole, S. E., Guerreiro, R. J.
<strong>Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.</strong>
Hum. Molec. Genet. 21: 2646-2650, 2012.
[PubMed: 22388936]
[Full Text: https://doi.org/10.1093/hmg/dds089]
</p>
</li>
<li>
<p class="mim-text-font">
Bruggemann, N., Hagenah, J., Reetz, K., Schmidt, A., Kasten, M., Buchmann, I., Eckerle, S., Bahre, M., Munchau, A., Djarmati, A., van der Vegt, J., Siebner, H., Binkofski, F., Ramirez, A., Behrens, M. I., Klein, C.
<strong>Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.</strong>
Arch. Neurol. 67: 1357-1363, 2010.
[PubMed: 21060012]
[Full Text: https://doi.org/10.1001/archneurol.2010.281]
</p>
</li>
<li>
<p class="mim-text-font">
Carlier, G., Dubru, J. M.
<strong>Familial juvenile parkinsonism.</strong>
Acta Paediat. Belg. 32: 123-127, 1979.
[PubMed: 495089]
</p>
</li>
<li>
<p class="mim-text-font">
Crosiers, D., Ceulemans, B., Meeus, B., Nuytemans, K., Pals, P., Van Broeckhoven, C., Cras, P., Theuns, J.
<strong>Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation. (Letter)</strong>
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[PubMed: 21094623]
[Full Text: https://doi.org/10.1016/j.parkreldis.2010.10.011]
</p>
</li>
<li>
<p class="mim-text-font">
De Volder, A. G., Cirelli, S., de Barsy, T., Brucher, J. M., Bol, A., Michel, C., Goffinet, A. M.
<strong>Neuronal ceroid-lipofuscinosis: preferential metabolic alterations in thalamus and posterior association cortex demonstrated by PET.</strong>
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[PubMed: 2292699]
[Full Text: https://doi.org/10.1136/jnnp.53.12.1063]
</p>
</li>
<li>
<p class="mim-text-font">
Di Fonzo, A., Chien, H. F., Socal, M., Giraudo, S., Tassorelli, C., Iliceto, G., Fabbrini, F., Marconi, R., Fincati, E., Abbruzzese, F., Marini, P., Squitieri, F., and 14 others.
<strong>ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.</strong>
Neurology 68: 1557-1562, 2007.
[PubMed: 17485642]
[Full Text: https://doi.org/10.1212/01.wnl.0000260963.08711.08]
</p>
</li>
<li>
<p class="mim-text-font">
Estrada-Cuzcano, A., Martin, S., Chamova, T., Synofzik, M., Timmann, D., Holemans, T., Andreeva, A., Reichbauer, J., De Rycke, R., Chang, D.-I., van Veen, S., Samuel, J., and 10 others.
<strong>Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).</strong>
Brain 140: 287-305, 2017.
[PubMed: 28137957]
[Full Text: https://doi.org/10.1093/brain/aww307]
</p>
</li>
<li>
<p class="mim-text-font">
Farias, F. H. G., Zeng, R., Johnson, G. S., Wininger, F. A., Taylor, J. F., Schnabel, R. D., McKay, S. D., Sanders, D. N., Lohi, H., Seppala, E. H., Wade, C. M., Lindblad-Toh, K., O'Brien, D. P., Katz, M. L.
<strong>A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.</strong>
Neurobiol. Dis. 42: 468-474, 2011.
[PubMed: 21362476]
[Full Text: https://doi.org/10.1016/j.nbd.2011.02.009]
</p>
</li>
<li>
<p class="mim-text-font">
Hampshire, D. J., Roberts, E., Crow, Y., Bond, J., Mubaidin, A., Wriekat, A.-L., Al-Din, A., Woods, C. G.
<strong>Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.</strong>
J. Med. Genet. 38: 680-682, 2001.
[PubMed: 11584046]
[Full Text: https://doi.org/10.1136/jmg.38.10.680]
</p>
</li>
<li>
<p class="mim-text-font">
Najim Al-Din, A. S., Wriekat, A., Mubaidin, A., Dasouki, M., Hiari, M.
<strong>Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.</strong>
Acta Neurol. Scand. 89: 347-352, 1994.
[PubMed: 8085432]
[Full Text: https://doi.org/10.1111/j.1600-0404.1994.tb02645.x]
</p>
</li>
<li>
<p class="mim-text-font">
Ramirez, A., Heimbach, A., Grundemann, J., Stiller, B., Hampshire, D., Cid, L. P., Goebel, I., Mubaidin, A. F., Wriekat, A.-L., Roeper, J., Al-Din, A., Hillmer, A. M., Karsak, M., Liss, B., Woods, C. G., Behrens, M. I., Kubisch, C.
<strong>Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.</strong>
Nature Genet. 38: 1184-1191, 2006.
[PubMed: 16964263]
[Full Text: https://doi.org/10.1038/ng1884]
</p>
</li>
<li>
<p class="mim-text-font">
Riis, R. C., Cummings, J. F., Loew, E. R., de Lahunta, A.
<strong>Tibetan terrier model of canine ceroid lipofuscinosis.</strong>
Am. J. Med. Genet. 42: 615-621, 1992.
[PubMed: 1609844]
[Full Text: https://doi.org/10.1002/ajmg.1320420437]
</p>
</li>
<li>
<p class="mim-text-font">
Santoro, L., Breedveld, G. J., Manganelli, F., Iodice, R., Pisciotta, C., Nolano, M., Punzo, F., Quarantelli, M., Pappata, S., Di Fonzo, A., Oostra, B. A., Bonifati, V.
<strong>Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.</strong>
Neurogenetics 12: 33-39, 2011.
[PubMed: 20853184]
[Full Text: https://doi.org/10.1007/s10048-010-0259-0]
</p>
</li>
<li>
<p class="mim-text-font">
Schneider, S. A., Paisan-Ruiz, C., Quinn, N. P., Lees, A. J., Houlden, H., Hardy, J., Bhatia, K. P.
<strong>ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.</strong>
Mov. Disord. 25: 979-984, 2010.
[PubMed: 20310007]
[Full Text: https://doi.org/10.1002/mds.22947]
</p>
</li>
<li>
<p class="mim-text-font">
Tome, F. M. S., Brunet, P., Fardeau, M., Hentati, F., Reix, J.
<strong>Familial disorder of the central and peripheral nervous systems with particular cytoplasmic lamellated inclusions in peripheral nerves, muscle satellite cells, and blood capillaries.</strong>
Acta Neuropath. 68: 209-217, 1985.
[PubMed: 4082923]
[Full Text: https://doi.org/10.1007/BF00690197]
</p>
</li>
<li>
<p class="mim-text-font">
Williams, D. R., Hadeed, A., Najim al-Din, A. S., Wreikat, A.-L., Lees, A. J.
<strong>Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.</strong>
Mov. Disord. 20: 1264-1271, 2005.
[PubMed: 15986421]
[Full Text: https://doi.org/10.1002/mds.20511]
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Cassandra L. Kniffin - updated : 11/23/2016<br>Cassandra L. Kniffin - updated : 10/9/2013<br>Cassandra L. Kniffin - updated : 10/18/2011<br>Cassandra L. Kniffin - updated : 6/21/2011<br>Cassandra L. Kniffin - updated : 2/24/2011<br>Cassandra L. Kniffin - updated : 12/27/2007<br>Victor A. McKusick - updated : 10/26/2006
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