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<title>
Entry
- #260300 - PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15
- OMIM
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<span class="h4">#260300</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/260300"><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="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET) OR (FBXO7)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17928&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1223/" 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>
<div><a href="https://www.diseaseinfosearch.org/x/9083" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=260300[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171695" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060372" 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/260300" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<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;
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<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> 783012006<br />
<strong>ORPHA:</strong> 171695<br />
<strong>DO:</strong> 0060372<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>
260300
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15
</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">
PARKINSONIAN-PYRAMIDAL SYNDROME; PKPS<br />
PALLIDOPYRAMIDAL SYNDROME<br />
PALLIDO-PYRAMIDAL SYNDROME
</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/22/204?start=-3&limit=10&highlight=204">
22q12.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Parkinson disease 15, autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/260300"> 260300 </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">
FBXO7
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605648"> 605648 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<a href="/clinicalSynopsis/260300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<a href="/phenotypicSeries/PS168600" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/260300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/260300" 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> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Reduced upgaze <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678422</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>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203572004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203572004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.54</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158489</a>, <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</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">
- 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 /> -
Spasticity, mainly in the lower limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678419&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678419</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 /> -
Scissor gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22090007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22090007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231698&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231698</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012407</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 /> -
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 /> -
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 /> -
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 /> -
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 /> -
Bradykinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399317006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399317006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span><br /> -
Hypomimia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248149005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248149005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0813217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0813217</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000338</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000338</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 /> -
Monotone speech <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678421</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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> VOICE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Monotone speech <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678421</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">
- Onset in adolescence or young adulthood<br /> -
Childhood onset has been reported in 1 family<br /> -
Slow progression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
Extrapyramidal signs show a favorable response to levodopa<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 F-box only protein 7 gene (FBXO7, <a href="/entry/605648#0001">605648.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</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 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/1/688?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/1/1217?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/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/4/411?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/4/432?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>
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<span class="mim-font">
<a href="/entry/601501"> VPS35 </a>
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<span class="mim-font">
<a href="/entry/601501"> 601501 </a>
</span>
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<span class="mim-font">
<a href="/geneMap/17/663?start=-3&limit=10&highlight=663"> 17q21.31 </a>
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<span class="mim-font">
<a href="/entry/168600"> {Parkinson disease, susceptibility to} </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
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<span class="mim-font">
<a href="/entry/168600"> 168600 </a>
</span>
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<span class="mim-font">
<a href="/entry/157140"> MAPT </a>
</span>
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<span class="mim-font">
<a href="/entry/157140"> 157140 </a>
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<span class="mim-font">
<a href="/geneMap/21/62?start=-3&limit=10&highlight=62"> 21q22.11 </a>
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<span class="mim-font">
<a href="/entry/615530"> Parkinson disease 20, early-onset </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
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<span class="mim-font">
<a href="/entry/615530"> 615530 </a>
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<span class="mim-font">
<a href="/entry/604297"> SYNJ1 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/604297"> 604297 </a>
</span>
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</tr>
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<span class="mim-font">
<a href="/geneMap/22/204?start=-3&limit=10&highlight=204"> 22q12.3 </a>
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<span class="mim-font">
<a href="/entry/260300"> Parkinson disease 15, autosomal recessive </a>
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<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>
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<span class="mim-font">
<a href="/entry/260300"> 260300 </a>
</span>
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<span class="mim-font">
<a href="/entry/605648"> FBXO7 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/605648"> 605648 </a>
</span>
</td>
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<span class="mim-font">
<a href="/geneMap/22/268?start=-3&limit=10&highlight=268"> 22q13.1 </a>
</span>
</td>
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<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>
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<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>
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<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>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that early-onset Parkinson disease-15 (PARK15), also known as the parkinsonian-pyramidal syndrome, is caused by homozygous or compound heterozygous mutation in the FBXO7 gene (<a href="/entry/605648">605648</a>) on chromosome 22q12.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (<a href="/entry/168600">168600</a>).</p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Davison, C. &lt;strong&gt;Pallido-pyramidal disease.&lt;/strong&gt; J. Neuropath. Exp. Neurol. 13: 50-59, 1954.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13118374/&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;13118374&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005072-195401000-00007&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="13118374">Davison (1954)</a> described 5 affected cases in 3 families. In 1 family, a brother and sister with first-cousin parents were affected, and in another family, a brother and sister with uncle-niece parents were affected. The illness began in the second or early third decade with the picture of paralysis agitans and pyramidal tract signs. Postmortem examination showed pallor of the pallidal segments, thinning of the ansa lenticularis, slight shrinkage and cellular change in the substantia nigra, and early demyelination of the pyramids and crossed pyramidal tracts. One of Davison's cases had been reported by Ramsey <a href="#4" class="mim-tip-reference" title="Hunt, J. R. &lt;strong&gt;Progressive atrophy of the globus pallidus (primary atrophy of the pallidal system): a system disease of the paralysis agitans type, characterized by atrophy of the motor cells of the corpus striatum; a contribution to the functions of the corpus striatum.&lt;/strong&gt; Brain 40: 58-148, 1917."None>Hunt (1917)</a>. Tremor and rigidity of 'paralysis agitans' type, parkinsonism, began at age 13. Clinically, Wilson disease was considered likely for a time. The patient survived until age 65 years. <a href="#7" class="mim-tip-reference" title="Lange, E., Poppe, W. &lt;strong&gt;Klinischer Beitrag zum Krankheitsbild der progressiven Pallidumatrophie (van Bogaert).&lt;/strong&gt; Psychiat. Neurol. (Basel) 146: 176-192, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14052483/&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;14052483&lt;/a&gt;]" pmid="14052483">Lange and Poppe (1963)</a> may have described the same disorder as familial progressive pallidum atrophy in 6 sibs. <a href="#6" class="mim-tip-reference" title="Lange, E., Poppe, W., Scholtze, P. &lt;strong&gt;Familial progressive pallidum atrophy.&lt;/strong&gt; Europ. Neurol. 3: 265-267, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5444533/&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;5444533&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000113978&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="5444533">Lange et al. (1970)</a> gave information on the autopsy findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5444533+13118374+14052483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Horowitz, G., Greenberg, J. &lt;strong&gt;Pallido-pyramidal syndrome treated with levodopa.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 38: 238-240, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1151403/&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;1151403&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp.38.3.238&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="1151403">Horowitz and Greenberg (1975)</a> reported a brother and sister who developed parkinsonism in the first decade of life. They both later developed symptoms of cortical spinal tract disease, similar to the disorder described by <a href="#1" class="mim-tip-reference" title="Davison, C. &lt;strong&gt;Pallido-pyramidal disease.&lt;/strong&gt; J. Neuropath. Exp. Neurol. 13: 50-59, 1954.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13118374/&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;13118374&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005072-195401000-00007&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="13118374">Davison (1954)</a>. Clinical features included tremor, rigidity, akinesia, scissor gait, and hyperreflexia. The disorder was progressive until the institution of levodopa treatment at the ages of 18 and 20 years, respectively. The extremely favorable response of the extrapyramidal signs and the lack of equal response of the pyramidal tract signs demonstrated the specificity of the pharmacologic agent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1151403+13118374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Livingstone, I. R. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Md. 3/3/1983."None>Livingstone (1983)</a> described a family with affected brother and sister.</p><p><a href="#9" class="mim-tip-reference" title="Nisipeanu, P., Kuritzky, A., Korczyn, A. D. &lt;strong&gt;Familial levodopa-responsive parkinsonian-pyramidal syndrome&lt;/strong&gt; Mov. Disord. 9: 673-675, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7845409/&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;7845409&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.870090614&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="7845409">Nisipeanu et al. (1994)</a> reported 2 unrelated consanguineous families in which 2 sibs each had levodopa-responsive parkinsonian-pyramidal syndrome. In the first family, of Libyan Jewish descent, a brother and sister both developed spasticity and hyperreflexia of the lower limbs at age 12 years. The disorder was progressive and resulted in impaired gait and later development of extrapyramidal signs, including tremor and bradykinesia. Two brothers in the second family, born of consanguineous Iraqi Jewish parents, developed lower limb spasticity at ages 21 and 23 years, respectively. Extrapyramidal signs became apparent about 3 years later. All 4 patients showed good response to levodopa treatment. <a href="#9" class="mim-tip-reference" title="Nisipeanu, P., Kuritzky, A., Korczyn, A. D. &lt;strong&gt;Familial levodopa-responsive parkinsonian-pyramidal syndrome&lt;/strong&gt; Mov. Disord. 9: 673-675, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7845409/&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;7845409&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.870090614&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="7845409">Nisipeanu et al. (1994)</a> noted that since no autopsy information was available in their patients to identify precise anatomic involvement, the term 'parkinsonian-pyramidal syndrome' would be more appropriate than 'pallido-pyramidal syndrome.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7845409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Srivastava, T., Goyal, V., Singh, S., Shukla, G., Behari, M. &lt;strong&gt;Pallido-pyramidal syndrome with blepharospasm and good response to levodopa.&lt;/strong&gt; J. Neurol. 252: 1537-1538, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16362831/&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;16362831&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00415-005-0852-6&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="16362831">Srivastava et al. (2005)</a> reported a 22-year-old Indian woman, born of consanguineous parents, with a history of progressive bradykinesia and stiffness from age 12 years. From age 20, she developed blepharospasm with rapid worsening of the bradykinesia, stiffness, and postural instability confining her to bed. She also reported urinary frequency and urgency as well as ankle clonus. Physical examination showed mask-like face, monotonous speech, slow saccades, hyperreflexia, extensor plantar responses, and mild intention tremor. Cognition was normal. Brain MRI showed bilateral calcifications in the basal ganglia, which the authors suggested may be idiopathic. She had a favorable clinical response to L-DOPA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16362831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Panagariya, A., Sharma, B., Dev, A. &lt;strong&gt;Pallido-pyramidal syndrome: a rare entity. (Letter)&lt;/strong&gt; Indian J. Med. Sci. 61: 156-157, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17337817/&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;17337817&lt;/a&gt;]" pmid="17337817">Panagariya et al. (2007)</a> reported a 19-year-old Indian man with an 18-month history of gradually progressive difficulty in walking, abnormal movements of the neck, and slow monotonous voice. He later developed postural tremors in both upper limbs, abnormal body posturing, and perioral dyskinesias. There was no family history of a neurologic disorder, and he had no memory impairment. Physical examination showed asymmetric pyramidal weakness and cogwheel rigidity in all 4 limbs. Single photon emission tomography (SPECT) scan revealed hypoperfusion in the left frontoparietal region and left basal ganglia and minimal hypoperfusion in left temporal lobe. He had excellent clinical response to L-DOPA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17337817" 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="#11" class="mim-tip-reference" title="Shojaee, S., Sina, F., Banihosseini, S. S., Kazemi, M. H., Kalhor, R., Shahidi, G.-A., Fakhrai-Rad, H., Ronaghi, M., Elahi, E. &lt;strong&gt;Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.&lt;/strong&gt; Am. J. Hum. Genet. 82: 1375-1384, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18513678/&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;18513678&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18513678[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/10.1016/j.ajhg.2008.05.005&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="18513678">Shojaee et al. (2008)</a> reported a large Iranian family with parkinsonian-pyramidal syndrome. Inheritance was autosomal recessive. All affected exhibited equinovarus deformity since childhood, but pyramidal signs did not become apparent until young adulthood in the third decade of life. All exhibited Babinski signs, hyperreflexia, and spasticity restricted mainly to lower limbs. At the time of the report, only the 3 most severely affected individuals showed detectable extrapyramidal symptoms, including rigidity, bradykinesia, hypomimia, and monotone speech. These symptoms became evident 5 to 20 years after appearance of pyramidal symptoms. One patient who agreed to treatment showed favorable response to L-DOPA. None of the patients exhibited tremor, upgaze paresis, dementia, or cerebellar signs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Di Fonzo, A., Dekker, M. C. J., Montagna, P., Baruzzi, A., Yonova, E. H., Correia Guedes, L., Szczerbinska, A., Zhao, T., Dubbel-Hulsman, L. O. M., Wouters, C. H., de Graaff, E., Oyen, W. J. G., Simons, E. J., Breedveld, G. J., Oostra, B. A., Horstink, M. W., Bonifati, V. &lt;strong&gt;FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.&lt;/strong&gt; Neurology 72: 240-245, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19038853/&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;19038853&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000338144.10967.2b&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="19038853">Di Fonzo et al. (2009)</a> reported 2 unrelated families, of Italian and Dutch descent, respectively, with PARK15. Affected individuals had juvenile onset (range, 10 to 19 years) of progressive parkinsonism associated with spasticity, hyperreflexia, and variable response to L-DOPA. Disease progression was slow, and all patients were alive decades after symptom onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19038853" 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="#11" class="mim-tip-reference" title="Shojaee, S., Sina, F., Banihosseini, S. S., Kazemi, M. H., Kalhor, R., Shahidi, G.-A., Fakhrai-Rad, H., Ronaghi, M., Elahi, E. &lt;strong&gt;Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.&lt;/strong&gt; Am. J. Hum. Genet. 82: 1375-1384, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18513678/&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;18513678&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18513678[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/10.1016/j.ajhg.2008.05.005&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="18513678">Shojaee et al. (2008)</a> performed genomewide linkage analysis of an Iranian family with parkinsonian-pyramidal syndrome using 500 K SNP arrays. The maximum parametric lod score under an autosomal recessive model was 3.39 on chromosome 22q. The authors noted that the linkage may have been missed had they used chips containing less than 100,000 SNPs across the genome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513678" 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>The transmission pattern of PARK15 in the family reported by <a href="#11" class="mim-tip-reference" title="Shojaee, S., Sina, F., Banihosseini, S. S., Kazemi, M. H., Kalhor, R., Shahidi, G.-A., Fakhrai-Rad, H., Ronaghi, M., Elahi, E. &lt;strong&gt;Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.&lt;/strong&gt; Am. J. Hum. Genet. 82: 1375-1384, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18513678/&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;18513678&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18513678[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/10.1016/j.ajhg.2008.05.005&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="18513678">Shojaee et al. (2008)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513678" 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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<p>In affected members of an Iranian family with parkinsonian-pyramidal syndrome, <a href="#11" class="mim-tip-reference" title="Shojaee, S., Sina, F., Banihosseini, S. S., Kazemi, M. H., Kalhor, R., Shahidi, G.-A., Fakhrai-Rad, H., Ronaghi, M., Elahi, E. &lt;strong&gt;Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.&lt;/strong&gt; Am. J. Hum. Genet. 82: 1375-1384, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18513678/&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;18513678&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18513678[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/10.1016/j.ajhg.2008.05.005&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="18513678">Shojaee et al. (2008)</a> identified a homozygous mutation in the FBXO7 gene (<a href="/entry/605648#0001">605648.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18513678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of an Italian and a Dutch family with PARK15, <a href="#2" class="mim-tip-reference" title="Di Fonzo, A., Dekker, M. C. J., Montagna, P., Baruzzi, A., Yonova, E. H., Correia Guedes, L., Szczerbinska, A., Zhao, T., Dubbel-Hulsman, L. O. M., Wouters, C. H., de Graaff, E., Oyen, W. J. G., Simons, E. J., Breedveld, G. J., Oostra, B. A., Horstink, M. W., Bonifati, V. &lt;strong&gt;FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.&lt;/strong&gt; Neurology 72: 240-245, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19038853/&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;19038853&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000338144.10967.2b&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="19038853">Di Fonzo et al. (2009)</a> identified homozygous (<a href="/entry/605648#0002">605648.0002</a>) and compound heterozygous (<a href="/entry/605648#0003">605648.0003</a> and <a href="/entry/605648#0004">605648.0004</a>) mutations in the FBXO7 gene, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19038853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
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<strong>See Also:</strong>
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<a href="#Jellinger1968" class="mim-tip-reference" title="Jellinger, K. &lt;strong&gt;Progressive Pallidumatrophie.&lt;/strong&gt; J. Neurol. Sci. 6: 19-44, 1968.">Jellinger (1968)</a>
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<a id="references"class="mim-anchor"></a>
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<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</h4>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Davison1954" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Davison, C.
<strong>Pallido-pyramidal disease.</strong>
J. Neuropath. Exp. Neurol. 13: 50-59, 1954.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13118374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13118374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13118374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00005072-195401000-00007" target="_blank">Full Text</a>]
</p>
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<li>
<a id="2" class="mim-anchor"></a>
<a id="Di Fonzo2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Di Fonzo, A., Dekker, M. C. J., Montagna, P., Baruzzi, A., Yonova, E. H., Correia Guedes, L., Szczerbinska, A., Zhao, T., Dubbel-Hulsman, L. O. M., Wouters, C. H., de Graaff, E., Oyen, W. J. G., Simons, E. J., Breedveld, G. J., Oostra, B. A., Horstink, M. W., Bonifati, V.
<strong>FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.</strong>
Neurology 72: 240-245, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19038853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19038853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19038853" 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.0000338144.10967.2b" target="_blank">Full Text</a>]
</p>
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<a id="Horowitz1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Horowitz, G., Greenberg, J.
<strong>Pallido-pyramidal syndrome treated with levodopa.</strong>
J. Neurol. Neurosurg. Psychiat. 38: 238-240, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1151403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1151403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1151403" 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.38.3.238" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Hunt1917" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hunt, J. R.
<strong>Progressive atrophy of the globus pallidus (primary atrophy of the pallidal system): a system disease of the paralysis agitans type, characterized by atrophy of the motor cells of the corpus striatum; a contribution to the functions of the corpus striatum.</strong>
Brain 40: 58-148, 1917.
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Jellinger1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jellinger, K.
<strong>Progressive Pallidumatrophie.</strong>
J. Neurol. Sci. 6: 19-44, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5644941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5644941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5644941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0022-510x(68)90123-8" target="_blank">Full Text</a>]
</p>
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<a id="Lange1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lange, E., Poppe, W., Scholtze, P.
<strong>Familial progressive pallidum atrophy.</strong>
Europ. Neurol. 3: 265-267, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5444533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5444533</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5444533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000113978" target="_blank">Full Text</a>]
</p>
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<a id="7" class="mim-anchor"></a>
<a id="Lange1963" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lange, E., Poppe, W.
<strong>Klinischer Beitrag zum Krankheitsbild der progressiven Pallidumatrophie (van Bogaert).</strong>
Psychiat. Neurol. (Basel) 146: 176-192, 1963.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14052483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14052483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14052483" 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="8" class="mim-anchor"></a>
<a id="Livingstone1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Livingstone, I. R.
<strong>Personal Communication.</strong>
Baltimore, Md. 3/3/1983.
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Nisipeanu1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nisipeanu, P., Kuritzky, A., Korczyn, A. D.
<strong>Familial levodopa-responsive parkinsonian-pyramidal syndrome</strong>
Mov. Disord. 9: 673-675, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7845409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7845409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7845409" 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.870090614" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Panagariya2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Panagariya, A., Sharma, B., Dev, A.
<strong>Pallido-pyramidal syndrome: a rare entity. (Letter)</strong>
Indian J. Med. Sci. 61: 156-157, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17337817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17337817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17337817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Shojaee2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shojaee, S., Sina, F., Banihosseini, S. S., Kazemi, M. H., Kalhor, R., Shahidi, G.-A., Fakhrai-Rad, H., Ronaghi, M., Elahi, E.
<strong>Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.</strong>
Am. J. Hum. Genet. 82: 1375-1384, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18513678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18513678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18513678[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=18513678" 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.ajhg.2008.05.005" target="_blank">Full Text</a>]
</p>
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Srivastava, T., Goyal, V., Singh, S., Shukla, G., Behari, M.
<strong>Pallido-pyramidal syndrome with blepharospasm and good response to levodopa.</strong>
J. Neurol. 252: 1537-1538, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16362831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16362831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16362831" 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/s00415-005-0852-6" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 3/12/2009
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Victor A. McKusick : 6/4/1986
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<h3>
<span class="mim-font">
<strong>#</strong> 260300
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<h3>
<span class="mim-font">
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<span class="mim-font">
PARKINSONIAN-PYRAMIDAL SYNDROME; PKPS<br />
PALLIDOPYRAMIDAL SYNDROME<br />
PALLIDO-PYRAMIDAL SYNDROME
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<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 783012006; &nbsp;
<strong>ORPHA:</strong> 171695; &nbsp;
<strong>DO:</strong> 0060372; &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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22q12.3
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Parkinson disease 15, autosomal recessive
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<span class="mim-font">
260300
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Autosomal recessive
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3
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FBXO7
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605648
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that early-onset Parkinson disease-15 (PARK15), also known as the parkinsonian-pyramidal syndrome, is caused by homozygous or compound heterozygous mutation in the FBXO7 gene (605648) on chromosome 22q12.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).</p>
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<strong>Clinical Features</strong>
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<p>Davison (1954) described 5 affected cases in 3 families. In 1 family, a brother and sister with first-cousin parents were affected, and in another family, a brother and sister with uncle-niece parents were affected. The illness began in the second or early third decade with the picture of paralysis agitans and pyramidal tract signs. Postmortem examination showed pallor of the pallidal segments, thinning of the ansa lenticularis, slight shrinkage and cellular change in the substantia nigra, and early demyelination of the pyramids and crossed pyramidal tracts. One of Davison's cases had been reported by Ramsey Hunt (1917). Tremor and rigidity of 'paralysis agitans' type, parkinsonism, began at age 13. Clinically, Wilson disease was considered likely for a time. The patient survived until age 65 years. Lange and Poppe (1963) may have described the same disorder as familial progressive pallidum atrophy in 6 sibs. Lange et al. (1970) gave information on the autopsy findings. </p><p>Horowitz and Greenberg (1975) reported a brother and sister who developed parkinsonism in the first decade of life. They both later developed symptoms of cortical spinal tract disease, similar to the disorder described by Davison (1954). Clinical features included tremor, rigidity, akinesia, scissor gait, and hyperreflexia. The disorder was progressive until the institution of levodopa treatment at the ages of 18 and 20 years, respectively. The extremely favorable response of the extrapyramidal signs and the lack of equal response of the pyramidal tract signs demonstrated the specificity of the pharmacologic agent. </p><p>Livingstone (1983) described a family with affected brother and sister.</p><p>Nisipeanu et al. (1994) reported 2 unrelated consanguineous families in which 2 sibs each had levodopa-responsive parkinsonian-pyramidal syndrome. In the first family, of Libyan Jewish descent, a brother and sister both developed spasticity and hyperreflexia of the lower limbs at age 12 years. The disorder was progressive and resulted in impaired gait and later development of extrapyramidal signs, including tremor and bradykinesia. Two brothers in the second family, born of consanguineous Iraqi Jewish parents, developed lower limb spasticity at ages 21 and 23 years, respectively. Extrapyramidal signs became apparent about 3 years later. All 4 patients showed good response to levodopa treatment. Nisipeanu et al. (1994) noted that since no autopsy information was available in their patients to identify precise anatomic involvement, the term 'parkinsonian-pyramidal syndrome' would be more appropriate than 'pallido-pyramidal syndrome.' </p><p>Srivastava et al. (2005) reported a 22-year-old Indian woman, born of consanguineous parents, with a history of progressive bradykinesia and stiffness from age 12 years. From age 20, she developed blepharospasm with rapid worsening of the bradykinesia, stiffness, and postural instability confining her to bed. She also reported urinary frequency and urgency as well as ankle clonus. Physical examination showed mask-like face, monotonous speech, slow saccades, hyperreflexia, extensor plantar responses, and mild intention tremor. Cognition was normal. Brain MRI showed bilateral calcifications in the basal ganglia, which the authors suggested may be idiopathic. She had a favorable clinical response to L-DOPA. </p><p>Panagariya et al. (2007) reported a 19-year-old Indian man with an 18-month history of gradually progressive difficulty in walking, abnormal movements of the neck, and slow monotonous voice. He later developed postural tremors in both upper limbs, abnormal body posturing, and perioral dyskinesias. There was no family history of a neurologic disorder, and he had no memory impairment. Physical examination showed asymmetric pyramidal weakness and cogwheel rigidity in all 4 limbs. Single photon emission tomography (SPECT) scan revealed hypoperfusion in the left frontoparietal region and left basal ganglia and minimal hypoperfusion in left temporal lobe. He had excellent clinical response to L-DOPA. </p><p>Shojaee et al. (2008) reported a large Iranian family with parkinsonian-pyramidal syndrome. Inheritance was autosomal recessive. All affected exhibited equinovarus deformity since childhood, but pyramidal signs did not become apparent until young adulthood in the third decade of life. All exhibited Babinski signs, hyperreflexia, and spasticity restricted mainly to lower limbs. At the time of the report, only the 3 most severely affected individuals showed detectable extrapyramidal symptoms, including rigidity, bradykinesia, hypomimia, and monotone speech. These symptoms became evident 5 to 20 years after appearance of pyramidal symptoms. One patient who agreed to treatment showed favorable response to L-DOPA. None of the patients exhibited tremor, upgaze paresis, dementia, or cerebellar signs. </p><p>Di Fonzo et al. (2009) reported 2 unrelated families, of Italian and Dutch descent, respectively, with PARK15. Affected individuals had juvenile onset (range, 10 to 19 years) of progressive parkinsonism associated with spasticity, hyperreflexia, and variable response to L-DOPA. Disease progression was slow, and all patients were alive decades after symptom onset. </p>
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<strong>Mapping</strong>
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<p>Shojaee et al. (2008) performed genomewide linkage analysis of an Iranian family with parkinsonian-pyramidal syndrome using 500 K SNP arrays. The maximum parametric lod score under an autosomal recessive model was 3.39 on chromosome 22q. The authors noted that the linkage may have been missed had they used chips containing less than 100,000 SNPs across the genome. </p>
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<h4>
<span class="mim-font">
<strong>Inheritance</strong>
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<p>The transmission pattern of PARK15 in the family reported by Shojaee et al. (2008) was consistent with autosomal recessive inheritance. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>In affected members of an Iranian family with parkinsonian-pyramidal syndrome, Shojaee et al. (2008) identified a homozygous mutation in the FBXO7 gene (605648.0001). </p><p>In affected members of an Italian and a Dutch family with PARK15, Di Fonzo et al. (2009) identified homozygous (605648.0002) and compound heterozygous (605648.0003 and 605648.0004) mutations in the FBXO7 gene, respectively. </p>
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<h4>
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<strong>See Also:</strong>
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</h4>
<span class="mim-text-font">
Jellinger (1968)
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<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Davison, C.
<strong>Pallido-pyramidal disease.</strong>
J. Neuropath. Exp. Neurol. 13: 50-59, 1954.
[PubMed: 13118374]
[Full Text: https://doi.org/10.1097/00005072-195401000-00007]
</p>
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<li>
<p class="mim-text-font">
Di Fonzo, A., Dekker, M. C. J., Montagna, P., Baruzzi, A., Yonova, E. H., Correia Guedes, L., Szczerbinska, A., Zhao, T., Dubbel-Hulsman, L. O. M., Wouters, C. H., de Graaff, E., Oyen, W. J. G., Simons, E. J., Breedveld, G. J., Oostra, B. A., Horstink, M. W., Bonifati, V.
<strong>FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.</strong>
Neurology 72: 240-245, 2009.
[PubMed: 19038853]
[Full Text: https://doi.org/10.1212/01.wnl.0000338144.10967.2b]
</p>
</li>
<li>
<p class="mim-text-font">
Horowitz, G., Greenberg, J.
<strong>Pallido-pyramidal syndrome treated with levodopa.</strong>
J. Neurol. Neurosurg. Psychiat. 38: 238-240, 1975.
[PubMed: 1151403]
[Full Text: https://doi.org/10.1136/jnnp.38.3.238]
</p>
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<li>
<p class="mim-text-font">
Hunt, J. R.
<strong>Progressive atrophy of the globus pallidus (primary atrophy of the pallidal system): a system disease of the paralysis agitans type, characterized by atrophy of the motor cells of the corpus striatum; a contribution to the functions of the corpus striatum.</strong>
Brain 40: 58-148, 1917.
</p>
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<li>
<p class="mim-text-font">
Jellinger, K.
<strong>Progressive Pallidumatrophie.</strong>
J. Neurol. Sci. 6: 19-44, 1968.
[PubMed: 5644941]
[Full Text: https://doi.org/10.1016/0022-510x(68)90123-8]
</p>
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<li>
<p class="mim-text-font">
Lange, E., Poppe, W., Scholtze, P.
<strong>Familial progressive pallidum atrophy.</strong>
Europ. Neurol. 3: 265-267, 1970.
[PubMed: 5444533]
[Full Text: https://doi.org/10.1159/000113978]
</p>
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<li>
<p class="mim-text-font">
Lange, E., Poppe, W.
<strong>Klinischer Beitrag zum Krankheitsbild der progressiven Pallidumatrophie (van Bogaert).</strong>
Psychiat. Neurol. (Basel) 146: 176-192, 1963.
[PubMed: 14052483]
</p>
</li>
<li>
<p class="mim-text-font">
Livingstone, I. R.
<strong>Personal Communication.</strong>
Baltimore, Md. 3/3/1983.
</p>
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<li>
<p class="mim-text-font">
Nisipeanu, P., Kuritzky, A., Korczyn, A. D.
<strong>Familial levodopa-responsive parkinsonian-pyramidal syndrome</strong>
Mov. Disord. 9: 673-675, 1994.
[PubMed: 7845409]
[Full Text: https://doi.org/10.1002/mds.870090614]
</p>
</li>
<li>
<p class="mim-text-font">
Panagariya, A., Sharma, B., Dev, A.
<strong>Pallido-pyramidal syndrome: a rare entity. (Letter)</strong>
Indian J. Med. Sci. 61: 156-157, 2007.
[PubMed: 17337817]
</p>
</li>
<li>
<p class="mim-text-font">
Shojaee, S., Sina, F., Banihosseini, S. S., Kazemi, M. H., Kalhor, R., Shahidi, G.-A., Fakhrai-Rad, H., Ronaghi, M., Elahi, E.
<strong>Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.</strong>
Am. J. Hum. Genet. 82: 1375-1384, 2008.
[PubMed: 18513678]
[Full Text: https://doi.org/10.1016/j.ajhg.2008.05.005]
</p>
</li>
<li>
<p class="mim-text-font">
Srivastava, T., Goyal, V., Singh, S., Shukla, G., Behari, M.
<strong>Pallido-pyramidal syndrome with blepharospasm and good response to levodopa.</strong>
J. Neurol. 252: 1537-1538, 2005.
[PubMed: 16362831]
[Full Text: https://doi.org/10.1007/s00415-005-0852-6]
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Cassandra L. Kniffin - updated : 3/12/2009
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Victor A. McKusick : 6/4/1986
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