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<title>
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Entry
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- #162350 - CEROID LIPOFUSCINOSIS, NEURONAL, 4 (KUFS TYPE); CLN4
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- OMIM
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<span class="h4">#162350</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="/phenotypicSeries/PS256730"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CEROID LIPOFUSCINOSIS, NEURONAL, 4 (KUFS TYPE)) OR (DNAJC5)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19108&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/1255" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/cln4-disease" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228343" 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><a href="https://www.alliancegenome.org/disease/DOID:0110720" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/162350" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110720" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 228343<br />
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<strong>DO:</strong> 0110720<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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162350
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CEROID LIPOFUSCINOSIS, NEURONAL, 4 (KUFS TYPE); CLN4
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
|
|
</div>
|
|
<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, PARRY TYPE
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<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/20/487?start=-3&limit=10&highlight=487">
|
|
20q13.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162350"> 162350 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
DNAJC5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611203"> 611203 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/162350" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS256730" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/162350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/162350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Dementia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
|
|
Speech deterioration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805792</a>]</span><br /> -
|
|
Myoclonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17450006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17450006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027066</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span><br /> -
|
|
Cerebellar signs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0742038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0742038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001317</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001317</a>]</span><br /> -
|
|
Cerebellar ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
|
|
Parkinsonism may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834208</a>]</span> <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">[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 /> -
|
|
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 /> -
|
|
Autofluorescent lipopigment in neurons <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864678</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Behavioral changes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/315244000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">315244000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</a>]</span><br /> -
|
|
Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br /> -
|
|
Auditory and visual hallucinations <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740399</a>]</span><br />
|
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|
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 'Fingerprint' profiles ultrastructurally <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836851&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836851</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003208</a>]</span><br /> -
|
|
'Curvilinear' profiles ultrastructurally <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836852&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836852</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003205" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003205</a>]</span><br /> -
|
|
'Rectilinear' profiles ultrastructurally <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850447</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003226" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003226</a>]</span><br /> -
|
|
Granular osmiophilic deposits (GROD) in cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859833</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003657</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003657</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Onset in adulthood (third to fourth decade) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
|
|
Rapidly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span><br /> -
|
|
For autosomal recessive forms, see CLN6B (<a href="/entry/204300">204300</a>) and CLN13 (<a href="/entry/615362">615362</a>)<br />
|
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|
|
</span>
|
|
</div>
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</div>
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|
|
</div>
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<div>
|
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<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 DNAJ/HSP40 homolog, subfamily C, member 5 gene (DNAJC5, <a href="/entry/611203#0001">611203.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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|
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</div>
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
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|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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|
|
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|
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|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Ceroid lipofuscinoses
|
|
- <a href="/phenotypicSeries/PS256730">PS256730</a>
|
|
- 15 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/1/484?start=-3&limit=10&highlight=484"> 1p34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256730"> Ceroid lipofuscinosis, neuronal, 1 </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/256730"> 256730 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600722"> PPT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600722"> 600722 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/548?start=-3&limit=10&highlight=548"> 4q28.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610951"> Ceroid lipofuscinosis, neuronal, 7 </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/610951"> 610951 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611124"> MFSD8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611124"> 611124 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/301?start=-3&limit=10&highlight=301"> 7q11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611726"> Epilepsy, progressive myoclonic 3, with or without intracellular inclusions </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/611726"> 611726 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611725"> KCTD7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611725"> 611725 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/9?start=-3&limit=10&highlight=9"> 8p23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600143"> Ceroid lipofuscinosis, neuronal, 8 </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/600143"> 600143 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607837"> CLN8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607837"> 607837 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/9?start=-3&limit=10&highlight=9"> 8p23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610003"> Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant </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/610003"> 610003 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607837"> CLN8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607837"> 607837 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/geneMap/11/63?start=-3&limit=10&highlight=63"> 11p15.5 </a>
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<span class="mim-font">
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<a href="/entry/610127"> Ceroid lipofuscinosis, neuronal, 10 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/610127"> 610127 </a>
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<span class="mim-font">
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<a href="/entry/116840"> CTSD </a>
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<span class="mim-font">
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<a href="/entry/116840"> 116840 </a>
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<a href="/geneMap/11/136?start=-3&limit=10&highlight=136"> 11p15.4 </a>
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<span class="mim-font">
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<a href="/entry/204500"> Ceroid lipofuscinosis, neuronal, 2 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/204500"> 204500 </a>
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<span class="mim-font">
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<a href="/entry/607998"> TPP1 </a>
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<span class="mim-font">
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<a href="/entry/607998"> 607998 </a>
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<a href="/geneMap/11/641?start=-3&limit=10&highlight=641"> 11q13.2 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/615362"> Ceroid lipofuscinosis, neuronal, 13 (Kufs type) </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/615362"> 615362 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/603539"> CTSF </a>
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</span>
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<span class="mim-font">
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<a href="/entry/603539"> 603539 </a>
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<span class="mim-font">
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<a href="/geneMap/13/231?start=-3&limit=10&highlight=231"> 13q22.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/256731"> Ceroid lipofuscinosis, neuronal, 5 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/256731"> 256731 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/608102"> CLN5 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/608102"> 608102 </a>
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/326?start=-3&limit=10&highlight=326"> 15q23 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/204300"> Ceroid lipofuscinosis, neuronal, 6B (Kufs type) </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/204300"> 204300 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606725"> CLN6 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606725"> 606725 </a>
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/326?start=-3&limit=10&highlight=326"> 15q23 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601780"> Ceroid lipofuscinosis, neuronal, 6A </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601780"> 601780 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606725"> CLN6 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/606725"> 606725 </a>
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</span>
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</td>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/16/301?start=-3&limit=10&highlight=301"> 16p12.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/204200"> Ceroid lipofuscinosis, neuronal, 3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/204200"> 204200 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607042"> CLN3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607042"> 607042 </a>
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</span>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/638?start=-3&limit=10&highlight=638"> 17q21.31 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614706"> Ceroid lipofuscinosis, neuronal, 11 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/614706"> 614706 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/138945"> GRN </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/138945"> 138945 </a>
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<span class="mim-font">
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<a href="/geneMap/20/487?start=-3&limit=10&highlight=487"> 20q13.33 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/162350"> Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/162350"> 162350 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611203"> DNAJC5 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611203"> 611203 </a>
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</span>
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<tr>
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<td>
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<span class="mim-font">
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Not Mapped
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<td>
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<span class="mim-font">
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<a href="/entry/609055"> Ceroid lipofuscinosis, neuronal, 9 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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</td>
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<span class="mim-font">
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<a href="/entry/609055"> 609055 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609055"> CLN9 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609055"> 609055 </a>
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</span>
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</tbody>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because autosomal dominant Kufs-type neuronal ceroid lipofuscinosis-4 (CLN4) is caused by heterozygous mutation in the DNAJC5 gene (<a href="/entry/611203">611203</a>) on chromosome 20q13.</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>Neuronal ceroid lipofuscinosis-4 (CLN4) is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, <a href="/entry/204200">204200</a>). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by <a href="#2" class="mim-tip-reference" title="Benitez, B. A., Alvarado, D., Cai, Y., Mayo, K., Chakraverty, S., Norton, J., Morris, J. C., Sands, M. S., Goate, A., Cruchaga, C. <strong>Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.</strong> PLoS One 6: e26741, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22073189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22073189</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22073189[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0026741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22073189">Benitez et al., 2011</a> and <a href="#14" class="mim-tip-reference" title="Velinov, M., Dolzhanskaya, N., Gonzalez, M., Powell, E., Konidari, I., Hulme, W., Staropoli, J. F., Xin, W., Wen, G. Y., Barone, R., Coppel, S. H., Sims, K., Brown, W. T., Zuchner, S. <strong>Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.</strong> PLoS One 7: e29729, 2012. Note: Electronic Article. Erratum published online.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22235333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22235333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22235333[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0029729" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22235333">Velinov et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22073189+22235333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (<a href="/entry/256730">256730</a>).</p>
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<p><a href="#3" class="mim-tip-reference" title="Boehme, D. H., Cottrell, J. C., Leonberg, S. C., Zeman, W. <strong>A dominant form of neuronal ceroid-lipofuscinosis.</strong> Brain 94: 745-760, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5132971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5132971</a>] [<a href="https://doi.org/10.1093/brain/94.4.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5132971">Boehme et al. (1971)</a> reported a family (named Parry) in which 11 individuals over 4 generations were affected with adult-onset neuronal ceroid lipofuscinosis (NCL) in an autosomal dominant pattern of inheritance. The strikingly consistent clinical picture was onset of a cerebellar syndrome at about age 31 years, followed by seizures, myoclonic jerks, and progressive dementia. Pathologic features included neuronal loss and accumulation of lipopigment in remaining neurons. No curvilinear or fingerprint patterns were apparent on ultrastructural examination. <a href="#1" class="mim-tip-reference" title="Armstrong, D., Dimmitt, S., Boehme, D. H., Leonberg, S. C., Jr., Vogel, W. <strong>Leukocyte peroxidase deficiency in a family with a dominant form of Kuf's (sic) disease. (Letter)</strong> Science 186: 155-156, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4414475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4414475</a>] [<a href="https://doi.org/10.1126/science.186.4159.155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4414475">Armstrong et al. (1974)</a> studied 3 sibs from Boehme's family and found that all 3 had low peroxidase although only 2 were clinically affected. <a href="#5" class="mim-tip-reference" title="Brodner, R. A., Noh, J. M. <strong>Early diagnosis of Kufs' disease. (Letter)</strong> Lancet 308308308: 1024 only, 1976. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/62240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">62240</a>] [<a href="https://doi.org/10.1016/s0140-6736(76)90862-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="62240">Brodner and Noh (1976)</a> and <a href="#4" class="mim-tip-reference" title="Brodner, R. A., Noh, J. M., Fine, E. J. <strong>A dominant form of adult neuronal ceroid-lipofuscinosis (Kufs' disease) with an associated occipital astrocytoma: early diagnosis by cortical biopsy.</strong> J. Neurol. Neurosurg. Psychiat. 39: 231-238, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/932739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">932739</a>] [<a href="https://doi.org/10.1136/jnnp.39.3.231" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="932739">Brodner et al. (1976)</a> studied a 24-year-old man from the family reported by <a href="#3" class="mim-tip-reference" title="Boehme, D. H., Cottrell, J. C., Leonberg, S. C., Zeman, W. <strong>A dominant form of neuronal ceroid-lipofuscinosis.</strong> Brain 94: 745-760, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5132971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5132971</a>] [<a href="https://doi.org/10.1093/brain/94.4.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5132971">Boehme et al. (1971)</a>. Cortical biopsy at the time of craniotomy for removal of astrocytoma showed changes indicative of Kufs disease. <a href="#14" class="mim-tip-reference" title="Velinov, M., Dolzhanskaya, N., Gonzalez, M., Powell, E., Konidari, I., Hulme, W., Staropoli, J. F., Xin, W., Wen, G. Y., Barone, R., Coppel, S. H., Sims, K., Brown, W. T., Zuchner, S. <strong>Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.</strong> PLoS One 7: e29729, 2012. Note: Electronic Article. Erratum published online.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22235333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22235333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22235333[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0029729" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22235333">Velinov et al. (2012)</a> reported follow-up of the Parry family reported by <a href="#3" class="mim-tip-reference" title="Boehme, D. H., Cottrell, J. C., Leonberg, S. C., Zeman, W. <strong>A dominant form of neuronal ceroid-lipofuscinosis.</strong> Brain 94: 745-760, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5132971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5132971</a>] [<a href="https://doi.org/10.1093/brain/94.4.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5132971">Boehme et al. (1971)</a>. The 49-year-old female proband developed psychiatric problems, including irritability and obsessive-compulsive manifestations, in her mid-twenties. EEG showed recurrent burst of 4- to 6-Hz slow waves, and she later developed overt seizures. This was followed by progressive memory loss and gait ataxia. In her forties, she reported progressive visual disturbances, described as 'yellow blinding lights.' Electron microscopic analysis of patient lymphocytes showed no lysosomal inclusions at age 26 years, but changes consistent with granular osmiophilic deposits and curvilinear profiles were observed at age 34. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4414475+22235333+5132971+932739+62240" 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="Ferrer, I., Arbizu, T., Pena, J., Serra, J. P. <strong>A Golgi and ultrastructural study of a dominant form of Kufs' disease.</strong> J. Neurol. 222: 183-190, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6153706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6153706</a>] [<a href="https://doi.org/10.1007/BF00313117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6153706">Ferrer et al. (1980)</a> reported a family with autosomal dominant Kufs disease with 6 affected individuals in 2 generations. Disease onset ranged from age 33 to 37 years and was characterized by progressive dementia and involuntary movements of the face and neck. One affected individual had seizures. Brain biopsy showed mild neuronal loss and the accumulation of a granular, membrane-bound product resembling lipofuscin with occasional dense compact rectilinear profiles, but no fingerprint or curvilinear profiles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6153706" 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="#9" class="mim-tip-reference" title="Goebel, H. H., Braak, H. <strong>Adult neuronal ceroid-lipofuscinosis.</strong> Clin. Neuropath. 8: 109-119, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2663281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2663281</a>]" pmid="2663281">Goebel and Braak (1989)</a> provided a detailed review of adult-onset NCL. Psychiatric and behavioral changes, mental deterioration, seizures, extrapyramidal symptoms, and ataxia dominate the clinical picture, while ocular symptoms are conspicuously absent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2663281" 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="Josephson, S. A., Schmidt, R. E., Millsap, P., McManus, D. Q., Morris, J. C. <strong>Autosomal dominant Kufs' disease: a cause of early onset dementia.</strong> J. Neurol. Sci. 188: 51-60, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11489285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11489285</a>] [<a href="https://doi.org/10.1016/s0022-510x(01)00546-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11489285">Josephson et al. (2001)</a> reported a family of English ancestry in which 10 members over 5 generations had Kufs disease. Age of onset ranged from 32 to 40 years, with the initial manifestation being new-onset seizures. Dementia developed in all affected members within 3 years of seizure onset and was characterized by impaired episodic memory, visual/spatial abilities, and executive function. Motor symptoms included myoclonus and extrapyramidal symptoms. Detailed postmortem examination of 1 patient showed cortical atrophy and autofluorescent granular accumulations in neurons of the cortex, basal ganglia, thalamus, brainstem, and cerebellum. Ultrastructural examination of the granular deposits did not show fingerprint or curvilinear profiles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11489285" 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="Nijssen, P. C. G., Brusse, E., Leyten, A. C. M., Martin, J. J., Teepen, J. L. J. M., Roos, R. A. C. <strong>Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.</strong> Mov. Disord. 17: 482-487, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12112194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12112194</a>] [<a href="https://doi.org/10.1002/mds.10104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12112194">Nijssen et al. (2002)</a> reported a Dutch family with autosomal dominant Kufs disease. There were 6 affected individuals in 3 generations, with an age of onset ranging from 24 to 46 years. Clinical features were similar to previously reported cases, including seizures, myoclonus, and dementia. Parkinsonian features such as rigidity, short-stepped gait, masked face, and stooped posture were also present in later stages of the disease. Some individuals also had hearing impairment. Neuropathologic examination of some affected individuals showed ballooned cells with autofluorescent and PAS-positive intraneuronal storage material and granular osmiophilic deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12112194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Burneo, J. G., Arnold, T., Palmer, C. A., Kuzniecky, R. I., Oh, S. J., Faught, E. <strong>Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama.</strong> Epilepsia 44: 841-846, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12790899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12790899</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2003.39802.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12790899">Burneo et al. (2003)</a> reported a family from Alabama with the disorder in which at least 4 generations were affected. In addition to seizures, dementia, and myoclonus, several affected individuals also had parkinsonism. <a href="#13" class="mim-tip-reference" title="Noskova, L., Stranecky, V., Hartmannova, H., Pristoupilova, A., Baresova, V., Ivanek, R., Hulkova, H., Jahnova, H., van der Zee, J., Staropoli, J. F., Sims, K. B., Tyynela, J., Van Broeckhoven, C., Nijssen, P. C. G., Mole, S. E., Elleder, M., Kmoch, S. <strong>Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.</strong> Am. J. Hum. Genet. 89: 241-252, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 241-252, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820099</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820099[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21820099">Noskova et al. (2011)</a> had excluded a mutation in the DNAJC5 gene in the family reported by <a href="#6" class="mim-tip-reference" title="Burneo, J. G., Arnold, T., Palmer, C. A., Kuzniecky, R. I., Oh, S. J., Faught, E. <strong>Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama.</strong> Epilepsia 44: 841-846, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12790899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12790899</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2003.39802.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12790899">Burneo et al. (2003)</a>, but <a href="#7" class="mim-tip-reference" title="Cadieux-Dion, M., Andermann, E., Lachance-Touchette, P., Ansorge, O., Meloche, C., Barnabe, A., Kuzniecky, R. I., Andermann, F., Faught, E., Leonberg, S., Damiano, J. A., Berkovic, S. F., Rouleau, G. A., Cossette, P. <strong>Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.</strong> Clin. Genet. 83: 571-575, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22978711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22978711</a>] [<a href="https://doi.org/10.1111/cge.12020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22978711">Cadieux-Dion et al. (2013)</a> did find a DNAJC5 mutation (<a href="/entry/611203#0001">611203.0001</a>) in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21820099+22978711+12790899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Noskova, L., Stranecky, V., Hartmannova, H., Pristoupilova, A., Baresova, V., Ivanek, R., Hulkova, H., Jahnova, H., van der Zee, J., Staropoli, J. F., Sims, K. B., Tyynela, J., Van Broeckhoven, C., Nijssen, P. C. G., Mole, S. E., Elleder, M., Kmoch, S. <strong>Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.</strong> Am. J. Hum. Genet. 89: 241-252, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 241-252, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820099</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820099[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21820099">Noskova et al. (2011)</a> reported a 3-generation Czech family with autosomal dominant adult-onset CLN. The proband presented at age 30 with myoclonic epilepsy, generalized tonic-clonic seizures, and progressive cognitive deterioration with depression; these symptoms were followed by progressive motor neurologic symptoms leading to death at age 37 years. Neuropathologic examination of postmortem brain tissue showed characteristic neurolysosomal storage of autofluorescent material with ultrastructural appearance corresponding to granular osmiophilic deposits (GROD). Other family members showed a similar clinical course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21820099" 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 adult-onset NCL in the family reported by <a href="#3" class="mim-tip-reference" title="Boehme, D. H., Cottrell, J. C., Leonberg, S. C., Zeman, W. <strong>A dominant form of neuronal ceroid-lipofuscinosis.</strong> Brain 94: 745-760, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5132971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5132971</a>] [<a href="https://doi.org/10.1093/brain/94.4.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5132971">Boehme et al. (1971)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5132971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage analysis of the large family with adult-onset NCL reported by <a href="#3" class="mim-tip-reference" title="Boehme, D. H., Cottrell, J. C., Leonberg, S. C., Zeman, W. <strong>A dominant form of neuronal ceroid-lipofuscinosis.</strong> Brain 94: 745-760, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5132971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5132971</a>] [<a href="https://doi.org/10.1093/brain/94.4.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5132971">Boehme et al. (1971)</a>, <a href="#7" class="mim-tip-reference" title="Cadieux-Dion, M., Andermann, E., Lachance-Touchette, P., Ansorge, O., Meloche, C., Barnabe, A., Kuzniecky, R. I., Andermann, F., Faught, E., Leonberg, S., Damiano, J. A., Berkovic, S. F., Rouleau, G. A., Cossette, P. <strong>Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.</strong> Clin. Genet. 83: 571-575, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22978711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22978711</a>] [<a href="https://doi.org/10.1111/cge.12020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22978711">Cadieux-Dion et al. (2013)</a> found linkage to a 3.8-Mb region on chromosome 20q13.33 (maximum multipoint lod score of 5.3 at SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11204451;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs11204451</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5132971+22978711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Czech family with autosomal dominant adult-onset ceroid neuronal lipofuscinosis-4, <a href="#13" class="mim-tip-reference" title="Noskova, L., Stranecky, V., Hartmannova, H., Pristoupilova, A., Baresova, V., Ivanek, R., Hulkova, H., Jahnova, H., van der Zee, J., Staropoli, J. F., Sims, K. B., Tyynela, J., Van Broeckhoven, C., Nijssen, P. C. G., Mole, S. E., Elleder, M., Kmoch, S. <strong>Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.</strong> Am. J. Hum. Genet. 89: 241-252, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 241-252, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820099</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820099[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21820099">Noskova et al. (2011)</a> identified a heterozygous deletion mutation in the DNAJC5 gene (346_348del; <a href="/entry/611203#0001">611203.0001</a>). The mutation was found by a combination of linkage analysis, copy-number analysis, gene-expression analysis, and exome sequencing of candidate genes. Screening of this gene in 20 additional families identified pathogenic mutations in 4 (346_348del or L115R, <a href="/entry/611203#0002">611203.0002</a>). Two of the families had been reported by <a href="#11" class="mim-tip-reference" title="Josephson, S. A., Schmidt, R. E., Millsap, P., McManus, D. Q., Morris, J. C. <strong>Autosomal dominant Kufs' disease: a cause of early onset dementia.</strong> J. Neurol. Sci. 188: 51-60, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11489285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11489285</a>] [<a href="https://doi.org/10.1016/s0022-510x(01)00546-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11489285">Josephson et al. (2001)</a> and <a href="#12" class="mim-tip-reference" title="Nijssen, P. C. G., Brusse, E., Leyten, A. C. M., Martin, J. J., Teepen, J. L. J. M., Roos, R. A. C. <strong>Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.</strong> Mov. Disord. 17: 482-487, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12112194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12112194</a>] [<a href="https://doi.org/10.1002/mds.10104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12112194">Nijssen et al. (2002)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11489285+21820099+12112194" 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 patients with CLN4, <a href="#2" class="mim-tip-reference" title="Benitez, B. A., Alvarado, D., Cai, Y., Mayo, K., Chakraverty, S., Norton, J., Morris, J. C., Sands, M. S., Goate, A., Cruchaga, C. <strong>Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.</strong> PLoS One 6: e26741, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22073189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22073189</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22073189[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0026741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22073189">Benitez et al. (2011)</a> and <a href="#14" class="mim-tip-reference" title="Velinov, M., Dolzhanskaya, N., Gonzalez, M., Powell, E., Konidari, I., Hulme, W., Staropoli, J. F., Xin, W., Wen, G. Y., Barone, R., Coppel, S. H., Sims, K., Brown, W. T., Zuchner, S. <strong>Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.</strong> PLoS One 7: e29729, 2012. Note: Electronic Article. Erratum published online.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22235333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22235333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22235333[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0029729" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22235333">Velinov et al. (2012)</a> found the same 2 heterozygous mutations in the DNAJC5 gene as those reported by <a href="#13" class="mim-tip-reference" title="Noskova, L., Stranecky, V., Hartmannova, H., Pristoupilova, A., Baresova, V., Ivanek, R., Hulkova, H., Jahnova, H., van der Zee, J., Staropoli, J. F., Sims, K. B., Tyynela, J., Van Broeckhoven, C., Nijssen, P. C. G., Mole, S. E., Elleder, M., Kmoch, S. <strong>Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.</strong> Am. J. Hum. Genet. 89: 241-252, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 241-252, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820099</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820099[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21820099">Noskova et al. (2011)</a>, thus confirming the findings. <a href="#2" class="mim-tip-reference" title="Benitez, B. A., Alvarado, D., Cai, Y., Mayo, K., Chakraverty, S., Norton, J., Morris, J. C., Sands, M. S., Goate, A., Cruchaga, C. <strong>Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.</strong> PLoS One 6: e26741, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22073189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22073189</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22073189[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0026741" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22073189">Benitez et al. (2011)</a> studied the family originally reported by <a href="#11" class="mim-tip-reference" title="Josephson, S. A., Schmidt, R. E., Millsap, P., McManus, D. Q., Morris, J. C. <strong>Autosomal dominant Kufs' disease: a cause of early onset dementia.</strong> J. Neurol. Sci. 188: 51-60, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11489285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11489285</a>] [<a href="https://doi.org/10.1016/s0022-510x(01)00546-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11489285">Josephson et al. (2001)</a>, and <a href="#14" class="mim-tip-reference" title="Velinov, M., Dolzhanskaya, N., Gonzalez, M., Powell, E., Konidari, I., Hulme, W., Staropoli, J. F., Xin, W., Wen, G. Y., Barone, R., Coppel, S. H., Sims, K., Brown, W. T., Zuchner, S. <strong>Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.</strong> PLoS One 7: e29729, 2012. Note: Electronic Article. Erratum published online.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22235333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22235333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22235333[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pone.0029729" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22235333">Velinov et al. (2012)</a> studied the Parry family originally reported by <a href="#3" class="mim-tip-reference" title="Boehme, D. H., Cottrell, J. C., Leonberg, S. C., Zeman, W. <strong>A dominant form of neuronal ceroid-lipofuscinosis.</strong> Brain 94: 745-760, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5132971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5132971</a>] [<a href="https://doi.org/10.1093/brain/94.4.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5132971">Boehme et al. (1971)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21820099+11489285+22235333+5132971+22073189" 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>By linkage analysis combined with exome sequencing in the large family (Parry) reported by <a href="#3" class="mim-tip-reference" title="Boehme, D. H., Cottrell, J. C., Leonberg, S. C., Zeman, W. <strong>A dominant form of neuronal ceroid-lipofuscinosis.</strong> Brain 94: 745-760, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5132971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5132971</a>] [<a href="https://doi.org/10.1093/brain/94.4.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5132971">Boehme et al. (1971)</a>, <a href="#7" class="mim-tip-reference" title="Cadieux-Dion, M., Andermann, E., Lachance-Touchette, P., Ansorge, O., Meloche, C., Barnabe, A., Kuzniecky, R. I., Andermann, F., Faught, E., Leonberg, S., Damiano, J. A., Berkovic, S. F., Rouleau, G. A., Cossette, P. <strong>Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.</strong> Clin. Genet. 83: 571-575, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22978711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22978711</a>] [<a href="https://doi.org/10.1111/cge.12020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22978711">Cadieux-Dion et al. (2013)</a> identified heterozygosity for the same deletion in the DNAJC5 gene that had previously been identified (<a href="/entry/611203#0001">611203.0001</a>). The mutation was confirmed by Sanger sequencing, was not found in 380 control chromosomes, and segregated with the disorder in the family. The American patient reported by <a href="#13" class="mim-tip-reference" title="Noskova, L., Stranecky, V., Hartmannova, H., Pristoupilova, A., Baresova, V., Ivanek, R., Hulkova, H., Jahnova, H., van der Zee, J., Staropoli, J. F., Sims, K. B., Tyynela, J., Van Broeckhoven, C., Nijssen, P. C. G., Mole, S. E., Elleder, M., Kmoch, S. <strong>Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.</strong> Am. J. Hum. Genet. 89: 241-252, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 241-252, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820099</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820099[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21820099">Noskova et al. (2011)</a> who carried this mutation was found to be from the Parry family. <a href="#7" class="mim-tip-reference" title="Cadieux-Dion, M., Andermann, E., Lachance-Touchette, P., Ansorge, O., Meloche, C., Barnabe, A., Kuzniecky, R. I., Andermann, F., Faught, E., Leonberg, S., Damiano, J. A., Berkovic, S. F., Rouleau, G. A., Cossette, P. <strong>Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.</strong> Clin. Genet. 83: 571-575, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22978711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22978711</a>] [<a href="https://doi.org/10.1111/cge.12020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22978711">Cadieux-Dion et al. (2013)</a> also identified the deletion mutation in affected members of a family from Alabama reported by <a href="#6" class="mim-tip-reference" title="Burneo, J. G., Arnold, T., Palmer, C. A., Kuzniecky, R. I., Oh, S. J., Faught, E. <strong>Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama.</strong> Epilepsia 44: 841-846, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12790899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12790899</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2003.39802.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12790899">Burneo et al. (2003)</a>, even though the mutation in this family had not been found by <a href="#13" class="mim-tip-reference" title="Noskova, L., Stranecky, V., Hartmannova, H., Pristoupilova, A., Baresova, V., Ivanek, R., Hulkova, H., Jahnova, H., van der Zee, J., Staropoli, J. F., Sims, K. B., Tyynela, J., Van Broeckhoven, C., Nijssen, P. C. G., Mole, S. E., Elleder, M., Kmoch, S. <strong>Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.</strong> Am. J. Hum. Genet. 89: 241-252, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 241-252, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820099</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820099[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2011.07.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21820099">Noskova et al. (2011)</a>. Haplotype analysis did not show a founder effect between the 2 families, suggesting that it is a recurrent mutation. <a href="#7" class="mim-tip-reference" title="Cadieux-Dion, M., Andermann, E., Lachance-Touchette, P., Ansorge, O., Meloche, C., Barnabe, A., Kuzniecky, R. I., Andermann, F., Faught, E., Leonberg, S., Damiano, J. A., Berkovic, S. F., Rouleau, G. A., Cossette, P. <strong>Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.</strong> Clin. Genet. 83: 571-575, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22978711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22978711</a>] [<a href="https://doi.org/10.1111/cge.12020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22978711">Cadieux-Dion et al. (2013)</a> also identified a heterozygous L115R mutation in 1 of 6 additional patients with the disorder; this patient had no family history. Overall, DNAJC5 mutations accounted for 38% of cases with unexplained adult-onset NCL in their cohort, with the mutations occurring at mutational hotspots. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5132971+21820099+22978711+12790899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Canadian sibs with CLN4 whose mother had been diagnosed with the disorder, <a href="#10" class="mim-tip-reference" title="Jedlickova, I., Cadieux-Dion, M., Pristoupilova, A., Stranecky, V., Hartmannova, H., Hodanova, K., Baresova, V., Hulkova, H., Sikora, J., Noskova, L., Musalkova, D., Vyletal, P., Sovova, J., Cossette, P., Andermann, E., Andermann, F., Kmoch, S., Adult NCL Gene Discovery Consortium. <strong>Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.</strong> Europ. J. Hum. Genet. 28: 783-789, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31919451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31919451</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31919451[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41431-019-0567-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31919451">Jedlickova et al. (2020)</a> identified a heterozygous 30-bp duplication in the DNAJC5 gene (c.370_399dup; <a href="/entry/611203#0003">611203.0003</a>). The mutation was identified by Sanger sequencing and whole-exome sequencing. Expression of mutant CSP-alpha protein in CAD5 cells showed abnormal cellular localization, abnormal palmitoylation, and formation of high molecular weight aggregates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31919451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1126/science.186.4159.155" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1371/journal.pone.0026741" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/94.4.745" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jnnp.39.3.231" target="_blank">Full Text</a>]
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Brodner, R. A., Noh, J. M.
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[<a href="https://doi.org/10.1016/s0140-6736(76)90862-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1528-1157.2003.39802.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/cge.12020" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00313117" target="_blank">Full Text</a>]
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Jedlickova, I., Cadieux-Dion, M., Pristoupilova, A., Stranecky, V., Hartmannova, H., Hodanova, K., Baresova, V., Hulkova, H., Sikora, J., Noskova, L., Musalkova, D., Vyletal, P., Sovova, J., Cossette, P., Andermann, E., Andermann, F., Kmoch, S., Adult NCL Gene Discovery Consortium.
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[<a href="https://doi.org/10.1038/s41431-019-0567-2" target="_blank">Full Text</a>]
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Josephson, S. A., Schmidt, R. E., Millsap, P., McManus, D. Q., Morris, J. C.
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[<a href="https://doi.org/10.1016/s0022-510x(01)00546-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/mds.10104" target="_blank">Full Text</a>]
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Noskova, L., Stranecky, V., Hartmannova, H., Pristoupilova, A., Baresova, V., Ivanek, R., Hulkova, H., Jahnova, H., van der Zee, J., Staropoli, J. F., Sims, K. B., Tyynela, J., Van Broeckhoven, C., Nijssen, P. C. G., Mole, S. E., Elleder, M., Kmoch, S.
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<strong>Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.</strong>
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[<a href="https://doi.org/10.1016/j.ajhg.2011.07.003" target="_blank">Full Text</a>]
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<a id="Velinov2012" class="mim-anchor"></a>
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Velinov, M., Dolzhanskaya, N., Gonzalez, M., Powell, E., Konidari, I., Hulme, W., Staropoli, J. F., Xin, W., Wen, G. Y., Barone, R., Coppel, S. H., Sims, K., Brown, W. T., Zuchner, S.
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<strong>Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.</strong>
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PLoS One 7: e29729, 2012. Note: Electronic Article. Erratum published online.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22235333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22235333</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22235333[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=22235333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1371/journal.pone.0029729" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 09/02/2022
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Cassandra L. Kniffin - updated : 6/30/2014<br>Cassandra L. Kniffin - updated : 6/3/2013<br>Cassandra L. Kniffin - updated : 9/15/2011<br>Cassandra L. Kniffin - updated : 5/5/2006<br>Cassandra L. Kniffin - reorganized : 7/31/2003<br>Cassandra L. Kniffin - updated : 7/30/2003
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Victor A. McKusick : 6/2/1986
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carol : 09/02/2022
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carol : 12/01/2021<br>ckniffin : 12/01/2021<br>carol : 07/28/2021<br>carol : 07/26/2021<br>ckniffin : 07/23/2021<br>carol : 05/02/2017<br>carol : 01/29/2015<br>alopez : 7/2/2014<br>mcolton : 7/1/2014<br>ckniffin : 6/30/2014<br>ckniffin : 6/30/2014<br>carol : 8/14/2013<br>ckniffin : 8/8/2013<br>carol : 6/7/2013<br>ckniffin : 6/3/2013<br>carol : 10/21/2011<br>carol : 9/16/2011<br>ckniffin : 9/15/2011<br>ckniffin : 9/15/2011<br>wwang : 5/17/2011<br>terry : 1/30/2009<br>ckniffin : 7/6/2007<br>wwang : 5/15/2006<br>ckniffin : 5/5/2006<br>terry : 2/22/2005<br>terry : 7/27/2004<br>alopez : 3/17/2004<br>tkritzer : 10/14/2003<br>carol : 7/31/2003<br>ckniffin : 7/30/2003<br>carol : 7/9/2003<br>alopez : 10/29/1999<br>dkim : 7/23/1998<br>mimadm : 12/2/1994<br>supermim : 3/16/1992<br>carol : 3/3/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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<strong>#</strong> 162350
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CEROID LIPOFUSCINOSIS, NEURONAL, 4 (KUFS TYPE); CLN4
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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CEROID LIPOFUSCINOSIS, NEURONAL, PARRY TYPE
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<strong>ORPHA:</strong> 228343;
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<strong>DO:</strong> 0110720;
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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 <br /> MIM number
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<span class="mim-font">
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20q13.33
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<span class="mim-font">
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Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant
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<span class="mim-font">
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162350
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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DNAJC5
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<span class="mim-font">
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611203
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because autosomal dominant Kufs-type neuronal ceroid lipofuscinosis-4 (CLN4) is caused by heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.</p>
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<strong>Description</strong>
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<p>Neuronal ceroid lipofuscinosis-4 (CLN4) is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, 204200). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</p>
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<strong>Clinical Features</strong>
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<p>Boehme et al. (1971) reported a family (named Parry) in which 11 individuals over 4 generations were affected with adult-onset neuronal ceroid lipofuscinosis (NCL) in an autosomal dominant pattern of inheritance. The strikingly consistent clinical picture was onset of a cerebellar syndrome at about age 31 years, followed by seizures, myoclonic jerks, and progressive dementia. Pathologic features included neuronal loss and accumulation of lipopigment in remaining neurons. No curvilinear or fingerprint patterns were apparent on ultrastructural examination. Armstrong et al. (1974) studied 3 sibs from Boehme's family and found that all 3 had low peroxidase although only 2 were clinically affected. Brodner and Noh (1976) and Brodner et al. (1976) studied a 24-year-old man from the family reported by Boehme et al. (1971). Cortical biopsy at the time of craniotomy for removal of astrocytoma showed changes indicative of Kufs disease. Velinov et al. (2012) reported follow-up of the Parry family reported by Boehme et al. (1971). The 49-year-old female proband developed psychiatric problems, including irritability and obsessive-compulsive manifestations, in her mid-twenties. EEG showed recurrent burst of 4- to 6-Hz slow waves, and she later developed overt seizures. This was followed by progressive memory loss and gait ataxia. In her forties, she reported progressive visual disturbances, described as 'yellow blinding lights.' Electron microscopic analysis of patient lymphocytes showed no lysosomal inclusions at age 26 years, but changes consistent with granular osmiophilic deposits and curvilinear profiles were observed at age 34. </p><p>Ferrer et al. (1980) reported a family with autosomal dominant Kufs disease with 6 affected individuals in 2 generations. Disease onset ranged from age 33 to 37 years and was characterized by progressive dementia and involuntary movements of the face and neck. One affected individual had seizures. Brain biopsy showed mild neuronal loss and the accumulation of a granular, membrane-bound product resembling lipofuscin with occasional dense compact rectilinear profiles, but no fingerprint or curvilinear profiles. </p><p>Goebel and Braak (1989) provided a detailed review of adult-onset NCL. Psychiatric and behavioral changes, mental deterioration, seizures, extrapyramidal symptoms, and ataxia dominate the clinical picture, while ocular symptoms are conspicuously absent. </p><p>Josephson et al. (2001) reported a family of English ancestry in which 10 members over 5 generations had Kufs disease. Age of onset ranged from 32 to 40 years, with the initial manifestation being new-onset seizures. Dementia developed in all affected members within 3 years of seizure onset and was characterized by impaired episodic memory, visual/spatial abilities, and executive function. Motor symptoms included myoclonus and extrapyramidal symptoms. Detailed postmortem examination of 1 patient showed cortical atrophy and autofluorescent granular accumulations in neurons of the cortex, basal ganglia, thalamus, brainstem, and cerebellum. Ultrastructural examination of the granular deposits did not show fingerprint or curvilinear profiles. </p><p>Nijssen et al. (2002) reported a Dutch family with autosomal dominant Kufs disease. There were 6 affected individuals in 3 generations, with an age of onset ranging from 24 to 46 years. Clinical features were similar to previously reported cases, including seizures, myoclonus, and dementia. Parkinsonian features such as rigidity, short-stepped gait, masked face, and stooped posture were also present in later stages of the disease. Some individuals also had hearing impairment. Neuropathologic examination of some affected individuals showed ballooned cells with autofluorescent and PAS-positive intraneuronal storage material and granular osmiophilic deposits. </p><p>Burneo et al. (2003) reported a family from Alabama with the disorder in which at least 4 generations were affected. In addition to seizures, dementia, and myoclonus, several affected individuals also had parkinsonism. Noskova et al. (2011) had excluded a mutation in the DNAJC5 gene in the family reported by Burneo et al. (2003), but Cadieux-Dion et al. (2013) did find a DNAJC5 mutation (611203.0001) in this family. </p><p>Noskova et al. (2011) reported a 3-generation Czech family with autosomal dominant adult-onset CLN. The proband presented at age 30 with myoclonic epilepsy, generalized tonic-clonic seizures, and progressive cognitive deterioration with depression; these symptoms were followed by progressive motor neurologic symptoms leading to death at age 37 years. Neuropathologic examination of postmortem brain tissue showed characteristic neurolysosomal storage of autofluorescent material with ultrastructural appearance corresponding to granular osmiophilic deposits (GROD). Other family members showed a similar clinical course. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of adult-onset NCL in the family reported by Boehme et al. (1971) was consistent with autosomal dominant inheritance. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By linkage analysis of the large family with adult-onset NCL reported by Boehme et al. (1971), Cadieux-Dion et al. (2013) found linkage to a 3.8-Mb region on chromosome 20q13.33 (maximum multipoint lod score of 5.3 at SNP rs11204451). </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In a Czech family with autosomal dominant adult-onset ceroid neuronal lipofuscinosis-4, Noskova et al. (2011) identified a heterozygous deletion mutation in the DNAJC5 gene (346_348del; 611203.0001). The mutation was found by a combination of linkage analysis, copy-number analysis, gene-expression analysis, and exome sequencing of candidate genes. Screening of this gene in 20 additional families identified pathogenic mutations in 4 (346_348del or L115R, 611203.0002). Two of the families had been reported by Josephson et al. (2001) and Nijssen et al. (2002). </p><p>In patients with CLN4, Benitez et al. (2011) and Velinov et al. (2012) found the same 2 heterozygous mutations in the DNAJC5 gene as those reported by Noskova et al. (2011), thus confirming the findings. Benitez et al. (2011) studied the family originally reported by Josephson et al. (2001), and Velinov et al. (2012) studied the Parry family originally reported by Boehme et al. (1971). </p><p>By linkage analysis combined with exome sequencing in the large family (Parry) reported by Boehme et al. (1971), Cadieux-Dion et al. (2013) identified heterozygosity for the same deletion in the DNAJC5 gene that had previously been identified (611203.0001). The mutation was confirmed by Sanger sequencing, was not found in 380 control chromosomes, and segregated with the disorder in the family. The American patient reported by Noskova et al. (2011) who carried this mutation was found to be from the Parry family. Cadieux-Dion et al. (2013) also identified the deletion mutation in affected members of a family from Alabama reported by Burneo et al. (2003), even though the mutation in this family had not been found by Noskova et al. (2011). Haplotype analysis did not show a founder effect between the 2 families, suggesting that it is a recurrent mutation. Cadieux-Dion et al. (2013) also identified a heterozygous L115R mutation in 1 of 6 additional patients with the disorder; this patient had no family history. Overall, DNAJC5 mutations accounted for 38% of cases with unexplained adult-onset NCL in their cohort, with the mutations occurring at mutational hotspots. </p><p>In 2 Canadian sibs with CLN4 whose mother had been diagnosed with the disorder, Jedlickova et al. (2020) identified a heterozygous 30-bp duplication in the DNAJC5 gene (c.370_399dup; 611203.0003). The mutation was identified by Sanger sequencing and whole-exome sequencing. Expression of mutant CSP-alpha protein in CAD5 cells showed abnormal cellular localization, abnormal palmitoylation, and formation of high molecular weight aggregates. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Armstrong, D., Dimmitt, S., Boehme, D. H., Leonberg, S. C., Jr., Vogel, W.
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<strong>Leukocyte peroxidase deficiency in a family with a dominant form of Kuf's (sic) disease. (Letter)</strong>
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Science 186: 155-156, 1974.
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[PubMed: 4414475]
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[Full Text: https://doi.org/10.1126/science.186.4159.155]
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<li>
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<p class="mim-text-font">
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Benitez, B. A., Alvarado, D., Cai, Y., Mayo, K., Chakraverty, S., Norton, J., Morris, J. C., Sands, M. S., Goate, A., Cruchaga, C.
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<strong>Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.</strong>
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PLoS One 6: e26741, 2011. Note: Electronic Article.
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[PubMed: 22073189]
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[Full Text: https://doi.org/10.1371/journal.pone.0026741]
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<p class="mim-text-font">
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Boehme, D. H., Cottrell, J. C., Leonberg, S. C., Zeman, W.
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<strong>A dominant form of neuronal ceroid-lipofuscinosis.</strong>
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Brain 94: 745-760, 1971.
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[PubMed: 5132971]
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[Full Text: https://doi.org/10.1093/brain/94.4.745]
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<p class="mim-text-font">
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Brodner, R. A., Noh, J. M., Fine, E. J.
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<strong>A dominant form of adult neuronal ceroid-lipofuscinosis (Kufs' disease) with an associated occipital astrocytoma: early diagnosis by cortical biopsy.</strong>
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J. Neurol. Neurosurg. Psychiat. 39: 231-238, 1976.
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[PubMed: 932739]
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[Full Text: https://doi.org/10.1136/jnnp.39.3.231]
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<li>
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<p class="mim-text-font">
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Brodner, R. A., Noh, J. M.
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<strong>Early diagnosis of Kufs' disease. (Letter)</strong>
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Lancet 308308308: 1024 only, 1976. Note: Originally Volume II.
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[PubMed: 62240]
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[Full Text: https://doi.org/10.1016/s0140-6736(76)90862-x]
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</p>
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<li>
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<p class="mim-text-font">
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Burneo, J. G., Arnold, T., Palmer, C. A., Kuzniecky, R. I., Oh, S. J., Faught, E.
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<strong>Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama.</strong>
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Epilepsia 44: 841-846, 2003.
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[PubMed: 12790899]
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[Full Text: https://doi.org/10.1046/j.1528-1157.2003.39802.x]
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Jedlickova, I., Cadieux-Dion, M., Pristoupilova, A., Stranecky, V., Hartmannova, H., Hodanova, K., Baresova, V., Hulkova, H., Sikora, J., Noskova, L., Musalkova, D., Vyletal, P., Sovova, J., Cossette, P., Andermann, E., Andermann, F., Kmoch, S., Adult NCL Gene Discovery Consortium.
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<strong>Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.</strong>
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Josephson, S. A., Schmidt, R. E., Millsap, P., McManus, D. Q., Morris, J. C.
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<strong>Autosomal dominant Kufs' disease: a cause of early onset dementia.</strong>
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Nijssen, P. C. G., Brusse, E., Leyten, A. C. M., Martin, J. J., Teepen, J. L. J. M., Roos, R. A. C.
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<strong>Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.</strong>
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Noskova, L., Stranecky, V., Hartmannova, H., Pristoupilova, A., Baresova, V., Ivanek, R., Hulkova, H., Jahnova, H., van der Zee, J., Staropoli, J. F., Sims, K. B., Tyynela, J., Van Broeckhoven, C., Nijssen, P. C. G., Mole, S. E., Elleder, M., Kmoch, S.
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<strong>Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.</strong>
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Am. J. Hum. Genet. 89: 241-252, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 241-252, 2011.
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Velinov, M., Dolzhanskaya, N., Gonzalez, M., Powell, E., Konidari, I., Hulme, W., Staropoli, J. F., Xin, W., Wen, G. Y., Barone, R., Coppel, S. H., Sims, K., Brown, W. T., Zuchner, S.
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<strong>Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.</strong>
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