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<title>
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Entry
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- #256731 - CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5
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- OMIM
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<span class="h4">#256731</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/256731"><strong>Clinical Synopsis</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="#nomenclature">Nomenclature</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="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CEROID LIPOFUSCINOSIS, NEURONAL) OR (CLN5)" 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=19113&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://medlineplus.gov/genetics/condition/cln5-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=228360" 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:0110728" 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/256731" 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://omia.org/OMIA001482/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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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> 228360<br />
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<strong>DO:</strong> 0110728<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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256731
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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, 5; CLN5
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
|
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<p>
|
|
<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET
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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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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
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<span class="h3 mim-font">
|
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NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED
|
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</span>
|
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</div>
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<div>
|
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<span class="h4 mim-font">
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|
FINNISH vLINCL, INCLUDED
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</span>
|
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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>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/13/231?start=-3&limit=10&highlight=231">
|
|
13q22.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ceroid lipofuscinosis, neuronal, 5
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256731"> 256731 </a>
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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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">
|
|
CLN5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608102"> 608102 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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<div>
|
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/256731" 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/256731" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/256731" 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>
|
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|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vision loss, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839364&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839364</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397540003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H54.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H54.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/369.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">369.9</a>]</span><br /> -
|
|
Retinal degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95695004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95695004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035304</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000546</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000546</a>]</span><br /> -
|
|
Nystagmus (1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Clumsiness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7006003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7006003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233844</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002312" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002312</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002312" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002312</a>]</span><br /> -
|
|
Motor deterioration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866284&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866284</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002333" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002333</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002333" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002333</a>]</span><br /> -
|
|
Developmental regression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/609225004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">609225004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002376</a>]</span><br /> -
|
|
Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
|
|
Dysarthria (1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
|
|
Dysmetria (1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32566006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32566006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234162</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span><br /> -
|
|
Dysdiadochokinesis (1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23133003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23133003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234979</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002075</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
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 /> -
|
|
Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Cognitive impairment (1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span><br /> -
|
|
Neurophysiologic abnormalities (EEG, VEP, SEP) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866285&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866285</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001311</a>]</span><br /> -
|
|
Characteristic findings on MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850446</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 /> -
|
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Cerebellar atrophy (1 family) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</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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<span class="h5 mim-font">
|
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<em> Behavioral Psychiatric Manifestations </em>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
|
- Concentration difficulties <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60032008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60032008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235198&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235198</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031987</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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<div>
|
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<span class="h5 mim-font">
|
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<strong> LABORATORY ABNORMALITIES </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- '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 /> -
|
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'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 />
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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">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Onset at 4 to 7 years<br /> -
|
|
Later onset can also occur (up to age 17 years)<br /> -
|
|
Death at 13 to 30 years<br /> -
|
|
One family with late-adult onset and cerebellar ataxia has been reported (last curated February 2015)<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">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Caused by mutation in the CLN5 intracellular trafficking protein gene (CLN5, <a href="/entry/608102#0001">608102.0001</a>)<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 class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
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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>
|
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|
|
<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>
|
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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>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610951"> 610951 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/611124"> MFSD8 </a>
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/611124"> 611124 </a>
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</span>
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
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|
<a href="/geneMap/7/301?start=-3&limit=10&highlight=301"> 7q11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/611726"> Epilepsy, progressive myoclonic 3, with or without intracellular inclusions </a>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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|
</span>
|
|
</td>
|
|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/611726"> 611726 </a>
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611725"> KCTD7 </a>
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|
</span>
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/611725"> 611725 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/9?start=-3&limit=10&highlight=9"> 8p23.3 </a>
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|
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|
</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">
|
|
|
|
<a href="/geneMap/11/63?start=-3&limit=10&highlight=63"> 11p15.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610127"> Ceroid lipofuscinosis, neuronal, 10 </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/610127"> 610127 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116840"> CTSD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116840"> 116840 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/136?start=-3&limit=10&highlight=136"> 11p15.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204500"> Ceroid lipofuscinosis, neuronal, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204500"> 204500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607998"> TPP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607998"> 607998 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/641?start=-3&limit=10&highlight=641"> 11q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615362"> Ceroid lipofuscinosis, neuronal, 13 (Kufs type) </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/615362"> 615362 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603539"> CTSF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603539"> 603539 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/231?start=-3&limit=10&highlight=231"> 13q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256731"> Ceroid lipofuscinosis, neuronal, 5 </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/256731"> 256731 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608102"> CLN5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608102"> 608102 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/326?start=-3&limit=10&highlight=326"> 15q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204300"> Ceroid lipofuscinosis, neuronal, 6B (Kufs type) </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/204300"> 204300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606725"> CLN6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606725"> 606725 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/326?start=-3&limit=10&highlight=326"> 15q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601780"> Ceroid lipofuscinosis, neuronal, 6A </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/601780"> 601780 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606725"> CLN6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606725"> 606725 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/301?start=-3&limit=10&highlight=301"> 16p12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204200"> Ceroid lipofuscinosis, neuronal, 3 </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/204200"> 204200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607042"> CLN3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607042"> 607042 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/638?start=-3&limit=10&highlight=638"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614706"> Ceroid lipofuscinosis, neuronal, 11 </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/614706"> 614706 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138945"> GRN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138945"> 138945 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<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">
|
|
<a href="/entry/162350"> Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162350"> 162350 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611203"> DNAJC5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611203"> 611203 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
Not Mapped
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609055"> Ceroid lipofuscinosis, neuronal, 9 </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">
|
|
|
|
</span>
|
|
</td>
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<p>A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-5 (CLN5) is caused by homozygous or compound heterozygous mutation in the CLN5 gene (<a href="/entry/608102">608102</a>) on chromosome 13q22.</p>
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<p>The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (<a href="#7" class="mim-tip-reference" title="Mole, S. E., Williams, R. E., Goebel, H. H. <strong>Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.</strong> Neurogenetics 6: 107-126, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15965709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15965709</a>] [<a href="https://doi.org/10.1007/s10048-005-0218-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15965709">Mole et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15965709" 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>CLN5 was classically described in Finnish patients with onset between 4 and 7 years of age and is often referred to as the 'Finnish variant of late-infantile NCL' (Finnish vLINCL). With the identification of molecular defects, however, the CLNs are now classified numerically according to the underlying gene defect. CLN5 refers to CLN caused by mutation in the CLN5 gene, regardless of the age at onset.</p>
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<p>Santavuori et al. (<a href="#10" class="mim-tip-reference" title="Santavuori, P., Rapola, J., Sainio, K., Raitta, C. <strong>A variant of Jansky-Bielschowsky disease.</strong> Neuropediatrics 13: 135-141, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7133332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7133332</a>] [<a href="https://doi.org/10.1055/s-2008-1059612" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7133332">1982</a>, <a href="#9" class="mim-tip-reference" title="Santavuori, P., Rapola, J., Nuutila, A., Raininko, R., Lappi, M., Launes, J., Herva, R., Sainio, K. <strong>The spectrum of Jansky-Bielschowsky disease.</strong> Neuropediatrics 22: 92-96, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1649978/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1649978</a>] [<a href="https://doi.org/10.1055/s-2008-1071423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1649978">1991</a>) delineated in Finland a variant late infantile neuronal ceroid lipofuscinosis. The disorder was identified in 18 families whose ancestors formed a single cluster on the west coast of Finland. The clinical features included mental retardation, ataxia, and myoclonic epilepsy, and the neurophysiologic (EEG, VEP, and SEP) changes resembled those of the classic late infantile disorder. Compared to the classic form, the age of onset was slightly later (4 to 7 years vs 2 to 4 years) and the survival time longer (13 to 30 years vs 15 years), mimicking the juvenile form (Batten disease). Both curvilinear bodies and fingerprint profiles were demonstrated by electron microscopy of tissues, but no storage material was seen in lymphocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7133332+1649978" 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="Pineda-Trujillo, N., Cornejo, W., Carrizosa, J., Wheeler, R. B., Munera, S., Valencia, A., Agudelo-Arango, J., Cogollo, A., Anderson, G., Bedoya, G., Mole, S. E., Ruiz-Linares, A. <strong>A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.</strong> Neurology 64: 740-742, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15728307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15728307</a>] [<a href="https://doi.org/10.1212/01.WNL.0000151974.44980.F1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15728307">Pineda-Trujillo et al. (2005)</a> reported a consanguineous Colombian family in which 2 sibs had juvenile-onset variant NCL. Both patients presented at age 9 years with visual failure, loss of strength, and tremor of the lower limbs. There was rapid disease progression, with blindness and inability to walk occurring within 1 year of symptom onset. Other features included behavioral changes, loss of language, myoclonus, and seizures. Electron microscopy of skin biopsy of 1 patient showed fingerprint inclusions occasionally associated with lipid droplets, suggestive of a variant NCL. No curvilinear or rectilinear profiles were seen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15728307" 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="#17" class="mim-tip-reference" title="Xin, W., Mullen, T. E., Kiely, R., Min, J., Feng, X., Cao, Y., O'Malley, L., Shen, Y., Chu-Shore, C., Mole, S. E., Goebel, H. H., Sims, K. <strong>CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.</strong> Neurology 74: 565-571, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157158</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181cff70d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20157158">Xin et al. (2010)</a> reported 10 unrelated patients with CLN5 from diverse ethnic backgrounds, including non-Finnish Caucasian, French Canadian, Hispanic, Swedish, Chinese, Asian Indian, Egyptian, and Pakistani ancestry. The age at symptom onset was variable, ranging from 4 to 17 years. Seven had a juvenile mean age at onset of 5.6 years, but 2 had adult onset of symptoms at age 17 years. Most presented with motor impairment or regression, 2 presented with seizures, and 2 with visual loss. All developed the classic features of seizures, visual loss, motor difficulty, and cognitive regression within 1 to 8 years. Electron microscopy showed significant variation in inclusion type, such as fingerprint, curvilinear, and granular patterns. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20157158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Mancini, C., Nassani, S., Guo, Y., Chen, Y., Giorgio, E., Brussino, A., Di Gregorio, E., Cavalieri, S., Lo Buono, N., Funaro, A., Pizio, N. R., Nmezi, B., Kyttala, A., Santorelli, F. M., Padiath, Q. S., Hakonarson, H., Zhang, H., Brusco, A. <strong>Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.</strong> J. Neurol. 262: 173-178, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25359263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25359263</a>] [<a href="https://doi.org/10.1007/s00415-014-7553-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25359263">Mancini et al. (2015)</a> reported 2 sibs, born of consanguineous Italian parents, with unusually late onset of CLN5. Both patients developed cerebellar ataxia and progressive cognitive impairment in their mid-fifties. Features included unsteady gait, nystagmus, tremor, truncal ataxia, dysmetria, dysdiadochokinesis, and hyperreflexia. One patient had more severe cognitive impairment, especially affecting the visuospatial realm and executive tasks. Brain imaging of 1 patient showed marked cerebellar and cortical atrophy. Studies of patient tissue samples were not reported. Whole-exome sequencing identified a homozygous missense mutation in the CLN5 gene (S312N; <a href="/entry/608102#0009">608102.0009</a>) that <a href="#6" class="mim-tip-reference" title="Mancini, C., Nassani, S., Guo, Y., Chen, Y., Giorgio, E., Brussino, A., Di Gregorio, E., Cavalieri, S., Lo Buono, N., Funaro, A., Pizio, N. R., Nmezi, B., Kyttala, A., Santorelli, F. M., Padiath, Q. S., Hakonarson, H., Zhang, H., Brusco, A. <strong>Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.</strong> J. Neurol. 262: 173-178, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25359263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25359263</a>] [<a href="https://doi.org/10.1007/s00415-014-7553-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25359263">Mancini et al. (2015)</a> postulated was a hypomorphic allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25359263" 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 CLN5 in the families reported by <a href="#12" class="mim-tip-reference" title="Savukoski, M., Klockars, T., Holmberg, V., Santavuori, P., Lander, E. S., Peltonen, L. <strong>CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.</strong> Nature Genet. 19: 286-288, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662406</a>] [<a href="https://doi.org/10.1038/975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662406">Savukoski et al. (1998)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Jarvela, I. <strong>Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.</strong> Genomics 10: 333-337, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2071142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2071142</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90316-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2071142">Jarvela (1991)</a> demonstrated that the Finnish variant late-infantile form of NCL is not located on chromosome 1p where the CLN1 gene (PPT1; <a href="/entry/600722">600722</a>) is situated. Furthermore, the distribution of birthplaces of great-grandparents of affected Finnish patients showed a striking difference: the distribution of the CLN1 ancestry was very wide, suggesting an ancient founder effect; the ancestry of late-infantile variant cases was concentrated in a region of western Finland, suggesting a more recent founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2071142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Williams, R., Santavuori, P., Peltonen, L., Gardiner, R. M., Jarvela, I. <strong>A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjogren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.</strong> Genomics 20: 289-290, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020979</a>] [<a href="https://doi.org/10.1006/geno.1994.1168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8020979">Williams et al. (1994)</a> performed a linkage study of 11 families with vLINCL containing 13 affected children and 17 healthy sibs. They were able to exclude the CLN5 locus from both CLN1 on 1p and CLN3 (<a href="/entry/204200">204200</a>) on 16p. <a href="#11" class="mim-tip-reference" title="Savukoski, M., Kestila, M., Williams, R., Jarvela, I., Sharp, J., Harris, J., Santavuori, P., Gardiner, M., Peltonen, L. <strong>Defined chromosomal assignment of CLN5 demonstrates that at least four loci are involved in the pathogenesis of human ceroid lipofuscinoses.</strong> Am. J. Hum. Genet. 55: 695-701, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942847</a>]" pmid="7942847">Savukoski et al. (1994)</a> mapped the CLN5 locus to 13q21.1-q32 by linkage analysis and demonstrated a high level of linkage disequilibrium between the disease allele and defined alleles for D13S162 and D13S160. <a href="#4" class="mim-tip-reference" title="Klockars, T., Savukoski, M., Isosomppi, J., Laan, M., Jarvela, I., Petrukhin, K., Palotie, A., Peltonen, L. <strong>Efficient construction of a physical map by fiber-fish of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.</strong> Genomics 35: 71-78, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661106</a>] [<a href="https://doi.org/10.1006/geno.1996.0324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661106">Klockars et al. (1996)</a> further refined the map location to a region of about 350 kb between the markers COLAC1 and AC224. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8020979+8661106+7942847" 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 affected patients with CLN5, <a href="#12" class="mim-tip-reference" title="Savukoski, M., Klockars, T., Holmberg, V., Santavuori, P., Lander, E. S., Peltonen, L. <strong>CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.</strong> Nature Genet. 19: 286-288, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662406</a>] [<a href="https://doi.org/10.1038/975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662406">Savukoski et al. (1998)</a> identified 3 different homozygous mutations in the CLN5 gene (<a href="/entry/608102#0001">608102.0001</a>-<a href="/entry/608102#0003">608102.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662406" 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 Colombian sibs with juvenile-onset CLN5, <a href="#8" class="mim-tip-reference" title="Pineda-Trujillo, N., Cornejo, W., Carrizosa, J., Wheeler, R. B., Munera, S., Valencia, A., Agudelo-Arango, J., Cogollo, A., Anderson, G., Bedoya, G., Mole, S. E., Ruiz-Linares, A. <strong>A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.</strong> Neurology 64: 740-742, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15728307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15728307</a>] [<a href="https://doi.org/10.1212/01.WNL.0000151974.44980.F1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15728307">Pineda-Trujillo et al. (2005)</a> identified a homozygous missense mutation in the CLN5 gene (R112H; <a href="/entry/608102#0004">608102.0004</a>). The findings indicated that the disease occurs outside of northern Europe. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15728307" 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 10 of 47 non-Finnish patients with a clinical diagnosis of NCL, <a href="#17" class="mim-tip-reference" title="Xin, W., Mullen, T. E., Kiely, R., Min, J., Feng, X., Cao, Y., O'Malley, L., Shen, Y., Chu-Shore, C., Mole, S. E., Goebel, H. H., Sims, K. <strong>CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.</strong> Neurology 74: 565-571, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157158</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181cff70d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20157158">Xin et al. (2010)</a> identified 14 mutations in the CLN5 gene, including 11 novel mutations (see, e.g., <a href="/entry/608102#0006">608102.0006</a>-<a href="/entry/608102#0008">608102.0008</a>). Twelve of the 20 disease alleles resulted in premature termination of the protein. The findings suggested that CLN5 mutations may be more common than previously believed, can be found in non-Finnish patients, and can be found in patients with later onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20157158" 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 sibs with CLN5, <a href="#2" class="mim-tip-reference" title="El Haddad, S., Khoury, M., Daoud, M., Kantar, R., Harati, H., Mousallem, T., Alzate, O., Meyer, B., Boustany, R.-M. <strong>CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.</strong> Electrophoresis 33: 3798-3809, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23160995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23160995</a>] [<a href="https://doi.org/10.1002/elps.201200472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23160995">El Haddad et al. (2012)</a> identified a homozygous nonsense mutation in the CLN5 gene (Q232X; <a href="/entry/608102#0010">608102.0010</a>). The mutation, which was found by homozygosity mapping and candidate gene sequencing, segregated with the disorder in the family. The patients had originally been classified as having CLN9 (<a href="/entry/609055">609055</a>) by Schulz et al. (<a href="#13" class="mim-tip-reference" title="Schulz, A., Dhar, S., Rylova, S., Dbaibo, G., Alroy, J., Hagel, C., Artacho, I., Kohlschutter, A., Lin, S., Boustany, R.-M. <strong>Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.</strong> Ann. Neurol. 56: 342-350, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15349861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15349861</a>] [<a href="https://doi.org/10.1002/ana.20187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15349861">2004</a>, <a href="#14" class="mim-tip-reference" title="Schulz, A., Mousallem, T., Venkataramani, M., Persaud-Sawin, D.-A., Zucker, A., Luberto, C., Bielawska, A., Bielawski, J., Holthuis, J. C. M., Jazwinski, S. M., Kozhaya, L., Dbaibo, G. S., Boustany, R.-M. N. <strong>The CLN9 protein, a regulator of dihydroceramide synthase.</strong> J. Biol. Chem. 281: 2784-2794, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16303764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16303764</a>] [<a href="https://doi.org/10.1074/jbc.M509483200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16303764">2006</a>), who observed that patient fibroblasts showed decreased dihydroceramide synthase activity (see, e.g., CERS1, <a href="/entry/606919">606919</a>). <a href="#14" class="mim-tip-reference" title="Schulz, A., Mousallem, T., Venkataramani, M., Persaud-Sawin, D.-A., Zucker, A., Luberto, C., Bielawska, A., Bielawski, J., Holthuis, J. C. M., Jazwinski, S. M., Kozhaya, L., Dbaibo, G. S., Boustany, R.-M. N. <strong>The CLN9 protein, a regulator of dihydroceramide synthase.</strong> J. Biol. Chem. 281: 2784-2794, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16303764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16303764</a>] [<a href="https://doi.org/10.1074/jbc.M509483200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16303764">Schulz et al. (2006)</a> found that patient cells showed partial correction of growth defects and apoptosis when transfected with CLN8 (<a href="/entry/607837">607837</a>) and several human ceramide synthase genes, all of which increase dihydroceramide synthase activity. <a href="#14" class="mim-tip-reference" title="Schulz, A., Mousallem, T., Venkataramani, M., Persaud-Sawin, D.-A., Zucker, A., Luberto, C., Bielawska, A., Bielawski, J., Holthuis, J. C. M., Jazwinski, S. M., Kozhaya, L., Dbaibo, G. S., Boustany, R.-M. N. <strong>The CLN9 protein, a regulator of dihydroceramide synthase.</strong> J. Biol. Chem. 281: 2784-2794, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16303764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16303764</a>] [<a href="https://doi.org/10.1074/jbc.M509483200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16303764">Schulz et al. (2006)</a> concluded that the protein implicated in CLN9 may be a regulator of dihydroceramide synthase. <a href="#2" class="mim-tip-reference" title="El Haddad, S., Khoury, M., Daoud, M., Kantar, R., Harati, H., Mousallem, T., Alzate, O., Meyer, B., Boustany, R.-M. <strong>CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.</strong> Electrophoresis 33: 3798-3809, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23160995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23160995</a>] [<a href="https://doi.org/10.1002/elps.201200472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23160995">El Haddad et al. (2012)</a> found that CLN5-null cells had increased growth rates and increased apoptosis compared to controls, and these defects could be corrected by transfection with wildtype CLN5. CLN5-null cells also had decreased levels of sphingolipids downstream of ceramide synthase. CLN5-null patient fibroblasts showed absence of ACTG1 (<a href="/entry/102560">102560</a>) from CERS1 protein complexes as well as absence of ACTG1-bound proteins, including vimentin (<a href="/entry/193060">193060</a>) and several histone proteins, which may have explained the cellular phenotype of growth defects. The findings suggested a possible association of CLN8 with CLN5, such as CLN8 and CLN5 acting in a concerted manner to activate ceramide synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15349861+23160995+16303764" 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 haplotype analysis of Finnish patients with CLN5, <a href="#15" class="mim-tip-reference" title="Varilo, T., Savukoski, M., Norio, R., Santavuori, P., Peltonen, L., Jarvela, I. <strong>The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.</strong> Am. J. Hum. Genet. 58: 506-512, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644710</a>]" pmid="8644710">Varilo et al. (1996)</a> found that a single haplotype formed by flanking markers D13S160 and D13S162 was present in 81% of disease-bearing chromosomes. They detected allele 4 at the marker locus D13S162 in 94% of the disease-bearing chromosomes. To evaluate the age of the CLN5 mutation by virtue of its restricted geographic distribution (in Southern Ostrobothnia), <a href="#15" class="mim-tip-reference" title="Varilo, T., Savukoski, M., Norio, R., Santavuori, P., Peltonen, L., Jarvela, I. <strong>The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.</strong> Am. J. Hum. Genet. 58: 506-512, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644710</a>]" pmid="8644710">Varilo et al. (1996)</a> used church records to identify the common ancestors for 18 CLN5 families. The pedigrees of the ancestors merged on many occasions, which supported a single founder mutation that happened 20 to 30 generations ago (i.e., approximately 500 years ago) in this isolated population. Linkage disequilibrium was detected with 7 markers covering an extended genetic distance of 11 cM, which further supported the young age of the CLN5 mutation. When the results of genealogic and linkage disequilibrium studies were combined, the authors predicted that the CLN5 locus lies approximately 200 to 400 kb from the closest marker D13S162. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Kopra, O., Vesa, J., von Schantz, C., Manninen, T., Minye, H., Fabritius, A.-L., Rapola, J., van Diggelen, O. P., Saarela, J., Jalanko, A., Peltonen, L. <strong>A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.</strong> Hum. Molec. Genet. 13: 2893-2906, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15459177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15459177</a>] [<a href="https://doi.org/10.1093/hmg/ddh312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15459177">Kopra et al. (2004)</a> developed a mouse model of neuronal ceroid lipofuscinosis-5 by targeted deletion of exon 3 of the mouse Cln5 gene. The Cln5 -/- mice showed loss of vision and accumulation of autofluorescent storage material in CNS and peripheral tissues, without prominent brain atrophy. Electron microscopy of the storage material revealed a mixture of lamellar profiles including fingerprint profiles and curvilinear and rectilinear bodies. Prominent loss of a subset of GABAergic interneurons in several brain areas was also seen. Brain transcript profiling revealed altered expression of several genes involved in neurodegeneration, as well as in defense and immune response, typical of age-associated changes in the CNS. Downregulation of structural components of myelin was detected, consistent with the hypomyelination seen in the human CLN5 patients. Since the Cln5 -/- mice did not exhibit significant brain atrophy, <a href="#5" class="mim-tip-reference" title="Kopra, O., Vesa, J., von Schantz, C., Manninen, T., Minye, H., Fabritius, A.-L., Rapola, J., van Diggelen, O. P., Saarela, J., Jalanko, A., Peltonen, L. <strong>A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.</strong> Hum. Molec. Genet. 13: 2893-2906, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15459177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15459177</a>] [<a href="https://doi.org/10.1093/hmg/ddh312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15459177">Kopra et al. (2004)</a> suggested that these mice could serve as a model for studying the molecular processes associated with advanced aging. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15459177" 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="#Carpenter1977" class="mim-tip-reference" title="Carpenter, S., Karpati, G., Andermann, F., Jakob, J. C., Andermann, E. <strong>The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.</strong> Brain 100: 137-156, 1977.">Carpenter et al. (1977)</a>
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Carpenter, S., Karpati, G., Andermann, F., Jakob, J. C., Andermann, E.
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<strong>The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.</strong>
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Brain 100: 137-156, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/193610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">193610</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=193610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.</strong>
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Electrophoresis 33: 3798-3809, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23160995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23160995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23160995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Genomics 10: 333-337, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2071142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2071142</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2071142" 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/10.1006/geno.1996.0324" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddh312" target="_blank">Full Text</a>]
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Mancini, C., Nassani, S., Guo, Y., Chen, Y., Giorgio, E., Brussino, A., Di Gregorio, E., Cavalieri, S., Lo Buono, N., Funaro, A., Pizio, N. R., Nmezi, B., Kyttala, A., Santorelli, F. M., Padiath, Q. S., Hakonarson, H., Zhang, H., Brusco, A.
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[<a href="https://doi.org/10.1007/s00415-014-7553-y" target="_blank">Full Text</a>]
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Mole, S. E., Williams, R. E., Goebel, H. H.
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<strong>Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.</strong>
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[<a href="https://doi.org/10.1007/s10048-005-0218-3" target="_blank">Full Text</a>]
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<a id="Pineda-Trujillo2005" class="mim-anchor"></a>
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Pineda-Trujillo, N., Cornejo, W., Carrizosa, J., Wheeler, R. B., Munera, S., Valencia, A., Agudelo-Arango, J., Cogollo, A., Anderson, G., Bedoya, G., Mole, S. E., Ruiz-Linares, A.
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<strong>A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15728307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15728307</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15728307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.WNL.0000151974.44980.F1" target="_blank">Full Text</a>]
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<a id="Santavuori1991" class="mim-anchor"></a>
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<strong>The spectrum of Jansky-Bielschowsky disease.</strong>
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[<a href="https://doi.org/10.1055/s-2008-1071423" target="_blank">Full Text</a>]
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<a id="Santavuori1982" class="mim-anchor"></a>
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Santavuori, P., Rapola, J., Sainio, K., Raitta, C.
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<strong>A variant of Jansky-Bielschowsky disease.</strong>
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Neuropediatrics 13: 135-141, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7133332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7133332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7133332" 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/10.1055/s-2008-1059612" target="_blank">Full Text</a>]
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<a id="Savukoski1994" class="mim-anchor"></a>
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Savukoski, M., Kestila, M., Williams, R., Jarvela, I., Sharp, J., Harris, J., Santavuori, P., Gardiner, M., Peltonen, L.
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<strong>Defined chromosomal assignment of CLN5 demonstrates that at least four loci are involved in the pathogenesis of human ceroid lipofuscinoses.</strong>
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Am. J. Hum. Genet. 55: 695-701, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7942847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Savukoski1998" class="mim-anchor"></a>
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Savukoski, M., Klockars, T., Holmberg, V., Santavuori, P., Lander, E. S., Peltonen, L.
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<strong>CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.</strong>
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Nature Genet. 19: 286-288, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662406</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662406" 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/10.1038/975" target="_blank">Full Text</a>]
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Schulz, A., Dhar, S., Rylova, S., Dbaibo, G., Alroy, J., Hagel, C., Artacho, I., Kohlschutter, A., Lin, S., Boustany, R.-M.
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<strong>Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.</strong>
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Ann. Neurol. 56: 342-350, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15349861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15349861</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15349861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.20187" target="_blank">Full Text</a>]
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Schulz, A., Mousallem, T., Venkataramani, M., Persaud-Sawin, D.-A., Zucker, A., Luberto, C., Bielawska, A., Bielawski, J., Holthuis, J. C. M., Jazwinski, S. M., Kozhaya, L., Dbaibo, G. S., Boustany, R.-M. N.
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<strong>The CLN9 protein, a regulator of dihydroceramide synthase.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16303764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16303764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16303764" 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/10.1074/jbc.M509483200" target="_blank">Full Text</a>]
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<a id="Varilo1996" class="mim-anchor"></a>
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Varilo, T., Savukoski, M., Norio, R., Santavuori, P., Peltonen, L., Jarvela, I.
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<strong>The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.</strong>
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Am. J. Hum. Genet. 58: 506-512, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8644710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8644710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8644710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Williams, R., Santavuori, P., Peltonen, L., Gardiner, R. M., Jarvela, I.
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<strong>A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjogren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.</strong>
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Genomics 20: 289-290, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8020979" 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/10.1006/geno.1994.1168" target="_blank">Full Text</a>]
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<a id="Xin2010" class="mim-anchor"></a>
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Xin, W., Mullen, T. E., Kiely, R., Min, J., Feng, X., Cao, Y., O'Malley, L., Shen, Y., Chu-Shore, C., Mole, S. E., Goebel, H. H., Sims, K.
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<strong>CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.</strong>
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Neurology 74: 565-571, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157158</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20157158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e3181cff70d" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 3/11/2016
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/23/2015<br>Cassandra L. Kniffin - updated : 5/5/2010<br>George E. Tiller - updated : 5/31/2007<br>Cassandra L. Kniffin - updated : 3/16/2006<br>Cassandra L. Kniffin - updated : 5/24/2005<br>Cassandra L. Kniffin - reorganized : 9/23/2003<br>George E. Tiller - updated : 12/3/2002<br>Victor A. McKusick - updated : 6/24/1998<br>Alan F. Scott - updated : 8/22/1996
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Victor A. McKusick : 8/10/1994
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alopez : 08/19/2024<br>alopez : 03/15/2016<br>ckniffin : 3/11/2016<br>carol : 2/24/2015<br>mcolton : 2/23/2015<br>ckniffin : 2/23/2015<br>carol : 9/17/2013<br>wwang : 5/11/2010<br>ckniffin : 5/5/2010<br>wwang : 5/31/2007<br>ckniffin : 12/7/2006<br>carol : 3/24/2006<br>ckniffin : 3/21/2006<br>ckniffin : 3/16/2006<br>wwang : 6/1/2005<br>wwang : 5/25/2005<br>ckniffin : 5/24/2005<br>carol : 9/23/2003<br>ckniffin : 9/23/2003<br>ckniffin : 9/17/2003<br>joanna : 7/16/2003<br>cwells : 12/3/2002<br>dkim : 7/23/1998<br>dkim : 7/23/1998<br>alopez : 7/1/1998<br>alopez : 7/1/1998<br>terry : 6/24/1998<br>mark : 8/22/1996<br>marlene : 8/20/1996<br>mark : 7/3/1996<br>terry : 7/3/1996<br>terry : 6/21/1996<br>mark : 6/10/1996<br>mark : 3/10/1996<br>terry : 3/4/1996<br>mark : 12/4/1995<br>mark : 4/19/1995<br>carol : 11/14/1994<br>pfoster : 8/10/1994
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<span class="mim-font">
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<strong>#</strong> 256731
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CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET
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Other entities represented in this entry:
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<span class="h3 mim-font">
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NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED
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FINNISH vLINCL, INCLUDED
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<strong>ORPHA:</strong> 228360;
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<strong>DO:</strong> 0110728;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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13q22.3
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<span class="mim-font">
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Ceroid lipofuscinosis, neuronal, 5
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<span class="mim-font">
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256731
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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CLN5
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<span class="mim-font">
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608102
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-5 (CLN5) is caused by homozygous or compound heterozygous mutation in the CLN5 gene (608102) on chromosome 13q22.</p>
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<strong>Description</strong>
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<p>The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</p>
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<strong>Nomenclature</strong>
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<p>CLN5 was classically described in Finnish patients with onset between 4 and 7 years of age and is often referred to as the 'Finnish variant of late-infantile NCL' (Finnish vLINCL). With the identification of molecular defects, however, the CLNs are now classified numerically according to the underlying gene defect. CLN5 refers to CLN caused by mutation in the CLN5 gene, regardless of the age at onset.</p>
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<strong>Clinical Features</strong>
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<p>Santavuori et al. (1982, 1991) delineated in Finland a variant late infantile neuronal ceroid lipofuscinosis. The disorder was identified in 18 families whose ancestors formed a single cluster on the west coast of Finland. The clinical features included mental retardation, ataxia, and myoclonic epilepsy, and the neurophysiologic (EEG, VEP, and SEP) changes resembled those of the classic late infantile disorder. Compared to the classic form, the age of onset was slightly later (4 to 7 years vs 2 to 4 years) and the survival time longer (13 to 30 years vs 15 years), mimicking the juvenile form (Batten disease). Both curvilinear bodies and fingerprint profiles were demonstrated by electron microscopy of tissues, but no storage material was seen in lymphocytes. </p><p>Pineda-Trujillo et al. (2005) reported a consanguineous Colombian family in which 2 sibs had juvenile-onset variant NCL. Both patients presented at age 9 years with visual failure, loss of strength, and tremor of the lower limbs. There was rapid disease progression, with blindness and inability to walk occurring within 1 year of symptom onset. Other features included behavioral changes, loss of language, myoclonus, and seizures. Electron microscopy of skin biopsy of 1 patient showed fingerprint inclusions occasionally associated with lipid droplets, suggestive of a variant NCL. No curvilinear or rectilinear profiles were seen. </p><p>Xin et al. (2010) reported 10 unrelated patients with CLN5 from diverse ethnic backgrounds, including non-Finnish Caucasian, French Canadian, Hispanic, Swedish, Chinese, Asian Indian, Egyptian, and Pakistani ancestry. The age at symptom onset was variable, ranging from 4 to 17 years. Seven had a juvenile mean age at onset of 5.6 years, but 2 had adult onset of symptoms at age 17 years. Most presented with motor impairment or regression, 2 presented with seizures, and 2 with visual loss. All developed the classic features of seizures, visual loss, motor difficulty, and cognitive regression within 1 to 8 years. Electron microscopy showed significant variation in inclusion type, such as fingerprint, curvilinear, and granular patterns. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Mancini et al. (2015) reported 2 sibs, born of consanguineous Italian parents, with unusually late onset of CLN5. Both patients developed cerebellar ataxia and progressive cognitive impairment in their mid-fifties. Features included unsteady gait, nystagmus, tremor, truncal ataxia, dysmetria, dysdiadochokinesis, and hyperreflexia. One patient had more severe cognitive impairment, especially affecting the visuospatial realm and executive tasks. Brain imaging of 1 patient showed marked cerebellar and cortical atrophy. Studies of patient tissue samples were not reported. Whole-exome sequencing identified a homozygous missense mutation in the CLN5 gene (S312N; 608102.0009) that Mancini et al. (2015) postulated was a hypomorphic allele. </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 CLN5 in the families reported by Savukoski et al. (1998) was consistent with autosomal recessive inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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<span class="mim-text-font">
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<p>Jarvela (1991) demonstrated that the Finnish variant late-infantile form of NCL is not located on chromosome 1p where the CLN1 gene (PPT1; 600722) is situated. Furthermore, the distribution of birthplaces of great-grandparents of affected Finnish patients showed a striking difference: the distribution of the CLN1 ancestry was very wide, suggesting an ancient founder effect; the ancestry of late-infantile variant cases was concentrated in a region of western Finland, suggesting a more recent founder effect. </p><p>Williams et al. (1994) performed a linkage study of 11 families with vLINCL containing 13 affected children and 17 healthy sibs. They were able to exclude the CLN5 locus from both CLN1 on 1p and CLN3 (204200) on 16p. Savukoski et al. (1994) mapped the CLN5 locus to 13q21.1-q32 by linkage analysis and demonstrated a high level of linkage disequilibrium between the disease allele and defined alleles for D13S162 and D13S160. Klockars et al. (1996) further refined the map location to a region of about 350 kb between the markers COLAC1 and AC224. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected patients with CLN5, Savukoski et al. (1998) identified 3 different homozygous mutations in the CLN5 gene (608102.0001-608102.0003). </p><p>In 2 Colombian sibs with juvenile-onset CLN5, Pineda-Trujillo et al. (2005) identified a homozygous missense mutation in the CLN5 gene (R112H; 608102.0004). The findings indicated that the disease occurs outside of northern Europe. </p><p>In 10 of 47 non-Finnish patients with a clinical diagnosis of NCL, Xin et al. (2010) identified 14 mutations in the CLN5 gene, including 11 novel mutations (see, e.g., 608102.0006-608102.0008). Twelve of the 20 disease alleles resulted in premature termination of the protein. The findings suggested that CLN5 mutations may be more common than previously believed, can be found in non-Finnish patients, and can be found in patients with later onset. </p><p>In 2 sibs with CLN5, El Haddad et al. (2012) identified a homozygous nonsense mutation in the CLN5 gene (Q232X; 608102.0010). The mutation, which was found by homozygosity mapping and candidate gene sequencing, segregated with the disorder in the family. The patients had originally been classified as having CLN9 (609055) by Schulz et al. (2004, 2006), who observed that patient fibroblasts showed decreased dihydroceramide synthase activity (see, e.g., CERS1, 606919). Schulz et al. (2006) found that patient cells showed partial correction of growth defects and apoptosis when transfected with CLN8 (607837) and several human ceramide synthase genes, all of which increase dihydroceramide synthase activity. Schulz et al. (2006) concluded that the protein implicated in CLN9 may be a regulator of dihydroceramide synthase. El Haddad et al. (2012) found that CLN5-null cells had increased growth rates and increased apoptosis compared to controls, and these defects could be corrected by transfection with wildtype CLN5. CLN5-null cells also had decreased levels of sphingolipids downstream of ceramide synthase. CLN5-null patient fibroblasts showed absence of ACTG1 (102560) from CERS1 protein complexes as well as absence of ACTG1-bound proteins, including vimentin (193060) and several histone proteins, which may have explained the cellular phenotype of growth defects. The findings suggested a possible association of CLN8 with CLN5, such as CLN8 and CLN5 acting in a concerted manner to activate ceramide synthesis. </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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<p>By haplotype analysis of Finnish patients with CLN5, Varilo et al. (1996) found that a single haplotype formed by flanking markers D13S160 and D13S162 was present in 81% of disease-bearing chromosomes. They detected allele 4 at the marker locus D13S162 in 94% of the disease-bearing chromosomes. To evaluate the age of the CLN5 mutation by virtue of its restricted geographic distribution (in Southern Ostrobothnia), Varilo et al. (1996) used church records to identify the common ancestors for 18 CLN5 families. The pedigrees of the ancestors merged on many occasions, which supported a single founder mutation that happened 20 to 30 generations ago (i.e., approximately 500 years ago) in this isolated population. Linkage disequilibrium was detected with 7 markers covering an extended genetic distance of 11 cM, which further supported the young age of the CLN5 mutation. When the results of genealogic and linkage disequilibrium studies were combined, the authors predicted that the CLN5 locus lies approximately 200 to 400 kb from the closest marker D13S162. </p>
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<strong>Animal Model</strong>
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<p>Kopra et al. (2004) developed a mouse model of neuronal ceroid lipofuscinosis-5 by targeted deletion of exon 3 of the mouse Cln5 gene. The Cln5 -/- mice showed loss of vision and accumulation of autofluorescent storage material in CNS and peripheral tissues, without prominent brain atrophy. Electron microscopy of the storage material revealed a mixture of lamellar profiles including fingerprint profiles and curvilinear and rectilinear bodies. Prominent loss of a subset of GABAergic interneurons in several brain areas was also seen. Brain transcript profiling revealed altered expression of several genes involved in neurodegeneration, as well as in defense and immune response, typical of age-associated changes in the CNS. Downregulation of structural components of myelin was detected, consistent with the hypomyelination seen in the human CLN5 patients. Since the Cln5 -/- mice did not exhibit significant brain atrophy, Kopra et al. (2004) suggested that these mice could serve as a model for studying the molecular processes associated with advanced aging. </p>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Carpenter et al. (1977)
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Carpenter, S., Karpati, G., Andermann, F., Jakob, J. C., Andermann, E.
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<strong>The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.</strong>
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Brain 100: 137-156, 1977.
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[PubMed: 193610]
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[Full Text: https://doi.org/10.1093/brain/100.1.137]
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<p class="mim-text-font">
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El Haddad, S., Khoury, M., Daoud, M., Kantar, R., Harati, H., Mousallem, T., Alzate, O., Meyer, B., Boustany, R.-M.
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<strong>CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.</strong>
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Electrophoresis 33: 3798-3809, 2012.
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[PubMed: 23160995]
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[Full Text: https://doi.org/10.1002/elps.201200472]
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<li>
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<p class="mim-text-font">
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Jarvela, I.
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<strong>Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.</strong>
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Genomics 10: 333-337, 1991.
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[PubMed: 2071142]
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[Full Text: https://doi.org/10.1016/0888-7543(91)90316-7]
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<p class="mim-text-font">
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Klockars, T., Savukoski, M., Isosomppi, J., Laan, M., Jarvela, I., Petrukhin, K., Palotie, A., Peltonen, L.
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Xin, W., Mullen, T. E., Kiely, R., Min, J., Feng, X., Cao, Y., O'Malley, L., Shen, Y., Chu-Shore, C., Mole, S. E., Goebel, H. H., Sims, K.
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