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<title>
Entry
- #204200 - CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
- OMIM
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<span class="h4">#204200</span>
<br />
<strong>Table of Contents</strong>
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<li role="presentation">
<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
</li>
<li role="presentation">
<a href="/clinicalSynopsis/204200"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
<a href="/phenotypicSeries/PS256730"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#history">History</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#animalModel">Animal Model</a>
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<li role="presentation">
<a href="#seeAlso"><strong>See Also</strong></a>
</li>
<li role="presentation">
<a href="#references"><strong>References</strong></a>
</li>
<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
<div style="display: table-row">
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">External Links</div>
</div>
</a>
</h4>
</div>
</div>
<div id="mimExternalLinksFold" class="collapse in">
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
<span class="panel-title">
<span class="small">
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(CEROID LIPOFUSCINOSIS, NEURONAL) OR (CLN3)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/8699" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://medlineplus.gov/genetics/condition/cln3-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>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=204200[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0110731" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/204200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/OMIA002432/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0110731" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:204200" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 61663001<br />
<strong>ICD10CM:</strong> E75.4<br />
<strong>DO:</strong> 0110731<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
204200
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
NEURONAL CEROID LIPOFUSCINOSIS, JUVENILE; JNCL<br />
BATTEN DISEASE<br />
VOGT-SPIELMEYER DISEASE<br />
SPIELMEYER-SJOGREN DISEASE
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/301?start=-3&limit=10&highlight=301">
16p12.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Ceroid lipofuscinosis, neuronal, 3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/204200"> 204200 </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">
CLN3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607042"> 607042 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/204200" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/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>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/204200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/204200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Vision loss, progressive (4 to 10 years) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277890</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 /> -
Blindness (6 to 14 years) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859838</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span><br /> -
Retinitis pigmentosa <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28835009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28835009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000510</a>]</span><br /> -
Macular degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422338006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422338006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267718000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267718000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H35.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H35.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242383</a>, <a href="https://bioportal.bioontology.org/search?q=C0024437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000608</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000608</a>]</span><br /> -
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
Abolished electroretinogram (ERG) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855685</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000550</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000550</a>]</span><br /> -
Glaucoma, lens-induced <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788945006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788945006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3544108&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3544108</a>]</span><br /> -
Cataract, juvenile-onset mature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231279</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Concentric hypertrophic cardiomyopathy, severe (later onset in protracted cases) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011932&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011932</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005157" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005157</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autophagic vacuoles seen on biopsy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011930&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011930</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003736</a>]</span><br /> -
Intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011931</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Psychomotor degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836842</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002361" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002361</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002361" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002361</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 /> -
Dementia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
Extrapyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43378000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43378000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span><br /> -
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 /> -
Parkinsonism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32798002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32798002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G20.C" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G20.C</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001300" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001300</a>]</span><br /> -
Cerebellar signs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0742038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0742038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001317</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001317</a>]</span><br /> -
Progressive inability to walk <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836843</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002505</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 /> -
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
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 /> -
Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Difficulty in school <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0580094&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0580094</a>, <a href="https://bioportal.bioontology.org/search?q=C5575002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5575002</a>]</span><br /> -
Behavioral changes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/315244000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">315244000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</a>]</span><br /> -
Mood disturbances <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48079002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48079002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939186&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939186</a>]</span><br /> -
Anxiety <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>, <a href="https://bioportal.bioontology.org/search?q=C0003467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003467</a>, <a href="https://bioportal.bioontology.org/search?q=C0860603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span><br /> -
Psychosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191525009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191525009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69322001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69322001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F29</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/298.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">298.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290-299.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290-299.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349204&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349204</a>, <a href="https://bioportal.bioontology.org/search?q=C0033975&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033975</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000709" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000709</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Vacuolated lymphocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836855&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836855</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001922</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001922</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Lipopigment in extraneuronal cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859828</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003463</a>]</span><br /> -
'Fingerprint profiles' ultrastructurally in cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836851&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836851</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003208</a>]</span><br /> -
'Curvilinear profiles' ultrastructurally in cells <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 />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset at 4 to 10 years<br /> -
Death at 20 to 40 years<br /> -
Variable severity, some patients have a protracted course with little neurologic involvement<br /> -
1.02 kb genomic deletion in 85% of Batten disease alleles worldwide<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the CLN3 lysosomal/endosomal transmembrane protein, Battenin gene (CLN3, <a href="/entry/607042#0001">607042.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Ceroid lipofuscinoses
- <a href="/phenotypicSeries/PS256730">PS256730</a>
- 15 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/484?start=-3&limit=10&highlight=484"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/256730"> Ceroid lipofuscinosis, neuronal, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/256730"> 256730 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600722"> PPT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600722"> 600722 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/548?start=-3&limit=10&highlight=548"> 4q28.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610951"> Ceroid lipofuscinosis, neuronal, 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610951"> 610951 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611124"> MFSD8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611124"> 611124 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/301?start=-3&limit=10&highlight=301"> 7q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611726"> Epilepsy, progressive myoclonic 3, with or without intracellular inclusions </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611726"> 611726 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611725"> KCTD7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611725"> 611725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/9?start=-3&limit=10&highlight=9"> 8p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600143"> Ceroid lipofuscinosis, neuronal, 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600143"> 600143 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607837"> CLN8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607837"> 607837 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/9?start=-3&limit=10&highlight=9"> 8p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610003"> Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610003"> 610003 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607837"> CLN8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607837"> 607837 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<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>
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<a href="/entry/204200"> 204200 </a>
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<a href="/entry/607042"> CLN3 </a>
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<a href="/entry/607042"> 607042 </a>
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<a href="/geneMap/17/638?start=-3&limit=10&highlight=638"> 17q21.31 </a>
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<a href="/entry/614706"> Ceroid lipofuscinosis, neuronal, 11 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/614706"> 614706 </a>
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<a href="/entry/138945"> GRN </a>
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<span class="mim-font">
<a href="/entry/138945"> 138945 </a>
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<a href="/geneMap/20/487?start=-3&limit=10&highlight=487"> 20q13.33 </a>
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<a href="/entry/162350"> Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/162350"> 162350 </a>
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<a href="/entry/611203"> DNAJC5 </a>
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<a href="/entry/611203"> 611203 </a>
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<a href="/entry/609055"> Ceroid lipofuscinosis, neuronal, 9 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/609055"> 609055 </a>
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<a href="/entry/609055"> CLN9 </a>
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<span class="mim-font">
<a href="/entry/609055"> 609055 </a>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-3 (CLN3) is caused by homozygous or compound heterozygous mutation in the CLN3 gene (<a href="/entry/607042">607042</a>) on chromosome 16p12.</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 clinical course includes progressive dementia, seizures, and progressive visual failure (<a href="#44" class="mim-tip-reference" title="Mole, S. E., Williams, R. E., Goebel, H. H. &lt;strong&gt;Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.&lt;/strong&gt; Neurogenetics 6: 107-126, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15965709/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15965709&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10048-005-0218-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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>The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (<a href="#44" class="mim-tip-reference" title="Mole, S. E., Williams, R. E., Goebel, H. H. &lt;strong&gt;Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.&lt;/strong&gt; Neurogenetics 6: 107-126, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15965709/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15965709&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10048-005-0218-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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>The CLNs were originally classified broadly according to age at onset, with CLN3 as the juvenile-onset form (JNCL), with onset between 4 and 10 years of age. With the identification of molecular defects, however, the CLNs are now classified numerically according to the underlying gene defect. CLN3 refers to CLN caused by mutation in the CLN3 gene, regardless of the age at onset.</p><p>JNCL has also been called Batten disease, Vogt-Spielmeyer disease, and Spielmeyer-Sjogren disease. <a href="#43" class="mim-tip-reference" title="Mole, S. E., Mitchison, H. M., Munroe, P. B. &lt;strong&gt;Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.&lt;/strong&gt; Hum. Mutat. 14: 199-215, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10477428/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10477428&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1999)14:3&lt;199::AID-HUMU3&gt;3.0.CO;2-A&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10477428">Mole et al. (1999)</a> used 'Batten disease' as a generic designation for the NCLs, which they defined as a group of neurodegenerative disorders characterized by the accumulation of an autofluorescent lipopigment in many cell types. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10477428" 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>Batten (<a href="#3" class="mim-tip-reference" title="Batten, F. E. &lt;strong&gt;Cerebral degeneration with symmetrical changes in the maculae in two members of a family.&lt;/strong&gt; Trans. Ophthal. Soc. U.K. 23: 386-390, 1903."None>1903</a>, <a href="#4" class="mim-tip-reference" title="Batten, F. E. &lt;strong&gt;Family cerebral degeneration with macular change (so-called juvenile form of family amaurotic idiocy).&lt;/strong&gt; Quart. J. Med. 7: 444-453, 1914."None>1914</a>) described juvenile-onset of a familial form of 'cerebral degeneration with macular changes.'</p><p><a href="#56" class="mim-tip-reference" title="Spalton, D. J., Taylor, D. S. I., Sanders, M. D. &lt;strong&gt;Juvenile Batten&#x27;s disease: an ophthalmological assessment of 26 patients.&lt;/strong&gt; Brit. J. Ophthal. 64: 726-732, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7426545/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7426545&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.64.10.726&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7426545">Spalton et al. (1980)</a> reviewed 26 patients with Batten disease. Children presented with rapid progressive visual loss at age 6 to 7 years, early mental deterioration, and seizures. Macular degeneration was a consistent early feature, and peripheral retinal changes became more marked as the disease progressed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7426545" 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="#62" class="mim-tip-reference" title="Wisniewski, K. E., Kida, E., Patxot, O. F., Connell, F. &lt;strong&gt;Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations.&lt;/strong&gt; Am. J. Med. Genet. 42: 525-532, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1319116/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1319116&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420420&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1319116">Wisniewski et al. (1992)</a> reviewed the clinical and pathologic features of 163 patients with juvenile-onset CLN. The disorder was characterized by onset at 4 to 10 years of age of gradual visual loss with macular degeneration, optic atrophy, and/or retinitis pigmentosa. Other features included seizures and gradual mental and motor dysfunction. Ultrastructural examination of neuronal and nonneuronal tissues showed fingerprint inclusions. The youngest age at death was 16 years, and the oldest living patient was 40 years old but had been in a vegetative state for 21 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1319116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of 57 patients with CLN3, <a href="#7" class="mim-tip-reference" title="Boustany, R.-M. &lt;strong&gt;Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types.&lt;/strong&gt; Am. J. Med. Genet. 42: 533-535, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1609833/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1609833&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420421&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1609833">Boustany (1992)</a> concluded that the first symptom was insidious onset of retinitis pigmentosa between ages 4 and 6 years, which was often not identified before age 7 or 8 years. Visual decline was followed by progressive cognitive decline, and most patients developed seizures by age 10 years. Other motor symptoms included myoclonus, parkinsonism, and a severe dysarthria resulting in mutism in their twenties. Most patients developed behavioral problems with angry outbursts, physical violence, and features of depression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1609833" 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="#59" class="mim-tip-reference" title="Taschner, P. E. M., de Vos, N., Thompson, A. D., Callen, D. F., Doggett, N., Mole, S. E., Dooley, T. P., Barth, P. G., Breuning, M. H. &lt;strong&gt;Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).&lt;/strong&gt; Am. J. Hum. Genet. 56: 663-668, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7887420/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7887420&lt;/a&gt;]" pmid="7887420">Taschner et al. (1995)</a> reported a Moroccan child, born of consanguineous parents, with Batten disease. He had a typical clinical history of failing vision at the age of 9 years, leading to a diagnosis of tapetoretinal degeneration with normal neurologic examinations and scanning studies at that time. He became forgetful shortly after the start of visual deterioration and had, from the age of 11 years, generalized seizures that were well controlled by valproic acid. More than 1% of lymphocytes were vacuolated, most of which contained storage material in a 'fingerprint' pattern. At the age of 19 years, he developed parkinsonism without tremor. Molecular genetic studies identified a small homozygous deletion in the CLN3 gene (<a href="/entry/607042#0003">607042.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887420" 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>The <a href="#26" class="mim-tip-reference" title="International Batten Disease Consortium. &lt;strong&gt;Isolation of a novel gene underlying Batten disease, CLN3.&lt;/strong&gt; Cell 82: 949-957, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7553855/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7553855&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(95)90274-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7553855">International Batten Disease Consortium (1995)</a> reported a Finnish patient with Batten disease confirmed by identification of compound heterozygosity for 2 deletions in the CLN3 gene (<a href="/entry/607042#0001">607042.0001</a>; <a href="/entry/607042#0002">607042.0002</a>). After a normal birth and early childhood, he developed failing vision at age 6.5 years. Electroretinogram was abolished, and visual evoked potential was abnormal with delayed latency. Slight motor clumsiness and muscular hypotonia were found. Vacuolated lymphocytes were positive on repeated examinations. From age 11, he had generalized epileptic seizures that were well controlled by sodium valproate-clonazepam. An MRI at age 16 showed slight central, cortical, and cerebellar atrophy. The patient was still able to walk independently, but jumping had become difficult. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7553855" 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="#63" class="mim-tip-reference" title="Wisniewski, K. E., Zhong, N., Kaczmarski, W., Kaczmarski, A., Kida, E., Brown, W. T., Schwarz, K. O., Lazzarini, A. M., Rubin, A. J., Stenroos, E. S., Johnson, W. G., Wisniewski, T. M. &lt;strong&gt;Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis.&lt;/strong&gt; Ann. Neurol. 43: 106-110, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9450775/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9450775&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410430118&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9450775">Wisniewski et al. (1998)</a> reported 2 sibs with a protracted form of juvenile-onset CLN3: the sister died at age 51 of aspiration pneumonia and the brother was living at age 39. The sister developed progressive visual loss at 5 years of age and became totally blind at age 13. From 45 years of age, she had progressive impairment of coordination, memory loss, problems with naming and calculation, and episodes of confusion. A general examination at age 48 was normal. Neurologic examination showed disorientation for time and space, impairment of short- and long-term memory, dysarthria, oromandibular dystonia, and naming deficit. A pendular nystagmus was present. The optic fundi showed optic nerve atrophy, pigmentary retinal degeneration, and spicules. The brother began to lose vision at age 5 years, leading to blindness at the age of 12. The main finding on examination was blindness secondary to optic atrophy and pigmentary retinal degeneration. Both were compound heterozygous for 2 mutations in the CLN3 gene (<a href="/entry/607042#0001">607042.0001</a>; <a href="/entry/607042#0005">607042.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9450775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Cortese, A., Tucci, A., Piccolo, G., Galimberti, C. A., Fratta, P., Marchioni, E., Grampa, G., Cereda, C., Grieco, G., Ricca, I., Pittman, A., Ciscato, P., and 9 others. &lt;strong&gt;Novel CLN3 mutation causing autophagic vacuolar myopathy.&lt;/strong&gt; Neurology 82: 2072-2076, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24827497/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24827497&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0000000000000490&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24827497">Cortese et al. (2014)</a> reported 2 adult Italian brothers, born in a consanguineous family, with a protracted form of CLN3 confirmed by genetic analysis (G165E; <a href="/entry/607042#0007">607042.0007</a>). Both sibs presented at age 7 years with visual loss, which rapidly progressed to total blindness due to retinitis pigmentosa. Psychomotor development was normal. At ages 36 and 29 years, respectively, both developed well-controlled generalized seizures and severe concentric hypertrophic cardiomyopathy requiring pacemakers. Brain imaging showed mild cerebral and cerebellar vermian atrophy. Both sibs later showed mild cognitive impairment, but there was no evidence of muscle impairment except for mildly increased serum creatine kinase. Muscle biopsy showed autophagic vacuoles with glycogen and myelin-like debris, as well as autofluorescence. Electron-dense material formed structures similar to curvilinear bodies. Lymphocytes showed cytoplasmic vacuolization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24827497" 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="#47" class="mim-tip-reference" title="Nielsen, A. K., Drack, A. V., Ostergaard, J. R. &lt;strong&gt;Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (Batten disease).&lt;/strong&gt; Ophthalmic Genet. 36: 39-42, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25365415/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25365415&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816810.2014.977492&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25365415">Nielsen et al. (2015)</a> studied the ophthalmologic features in all 35 patients with JNCL born in Denmark between 1971 and 2003. During the study period (1996-2012), cataracts were detected in 5 patients at the average age of 20.1 + 1.6 years (mean, +2 SD). All 5 patients had the common 1.02-kb deletion in the CLN3 gene (<a href="/entry/607042#0001">607042.0001</a>). Two of the 5 patients developed acute glaucoma, and 1 patient underwent prophylactic cataract surgery. <a href="#47" class="mim-tip-reference" title="Nielsen, A. K., Drack, A. V., Ostergaard, J. R. &lt;strong&gt;Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (Batten disease).&lt;/strong&gt; Ophthalmic Genet. 36: 39-42, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25365415/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25365415&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816810.2014.977492&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25365415">Nielsen et al. (2015)</a> concluded that presenile cataract formation and secondary acute glaucoma are complications of JNCL for which patients over the age of 16 years should be screened routinely. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25365415" 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>Pathologic Features</em></strong></p><p>
The major pathologic features of Batten disease are (1) severe widespread neuronal degeneration resulting in retinal atrophy and in massive loss of brain substance, the average brain weight being about 600 gm, and (2) accumulation of lipofuscin in neuronal perikaryon (<a href="#64" class="mim-tip-reference" title="Zeman, W., Donahue, S. &lt;strong&gt;Fine structure of the lipid bodies in juvenile amaurotic idiocy.&lt;/strong&gt; Acta Neuropath. 3: 144-149, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14196530/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14196530&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00687063&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14196530">Zeman and Donahue, 1963</a>; <a href="#22" class="mim-tip-reference" title="Gonatas, N. K., Terry, R. D., Winkler, R., Korey, S. R., Gomez, C. J., Stein, A. &lt;strong&gt;A case of juvenile lipidosis: the significance of electron microscopic and biochemical observations of a cerebral biopsy.&lt;/strong&gt; J. Neuropath. Exp. Neurol. 22: 557-580, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14069838/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14069838&lt;/a&gt;]" pmid="14069838">Gonatas et al., 1963</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14196530+14069838" 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>Vacuolation of the lymphocytes is a well-established feature in the homozygote (<a href="#40" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Medical genetics 1962.&lt;/strong&gt; J. Chronic Dis. 16: 457-634, 1963. Fig. 33.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14042963/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14042963&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0021-9681(63)90148-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14042963">McKusick, 1963</a>). Although <a href="#51" class="mim-tip-reference" title="Rayner, S. &lt;strong&gt;Juvenile amaurotic idiocy in Sweden. (Abstract)&lt;/strong&gt; Proceedings of the 11th International Congress of Genetics, The Hague 1963. P. 283."None>Rayner (1963)</a> claimed that about 1% of lymphocytes are vacuolated in heterozygotes, <a href="#9" class="mim-tip-reference" title="Burrig, K.-F., Schwendemann, G., Lohler, J. &lt;strong&gt;Lack of structural abnormalities in lymphocytes from heterozygotes of juvenile type of generalized ceroid-lipofuscinosis: a light and electron microscopic study.&lt;/strong&gt; Neuropediatrics 13: 216-218, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6296714/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6296714&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2008-1059626&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6296714">Burrig et al. (1982)</a> concluded that cytoplasmic vacuoles and inclusions occur only in homozygotes. <a href="#57" class="mim-tip-reference" title="Strouth, J. C., Zeman, W., Merritt, A. D. &lt;strong&gt;Leukocyte abnormalities in familial amaurotic idiocy.&lt;/strong&gt; New Eng. J. Med. 274: 36-38, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5948112/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5948112&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM196601062740107&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5948112">Strouth et al. (1966)</a> reported characteristic leukocyte abnormalities in juvenile-onset CLN. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5948112+14042963+6296714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Armstrong, D., Dimmitt, S., VanWormer, D. E. &lt;strong&gt;Studies in Batten disease.&lt;/strong&gt; Arch. Neurol. 30: 144-152, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4810892/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4810892&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1974.00490320032004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4810892">Armstrong et al. (1974)</a> reported deficiency of leukocyte peroxidase in patients with the CLN2 (<a href="/entry/204500">204500</a>) and CLN3; however, <a href="#18" class="mim-tip-reference" title="Farrell, D. F., Sumi, S. M. &lt;strong&gt;Skin punch biopsy in the diagnosis of juvenile neuronal ceroid-lipofuscinosis: a comparison with leukocyte peroxidase assay.&lt;/strong&gt; Arch. Neurol. 34: 39-44, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/188403/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;188403&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1977.00500130059012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="188403">Farrell and Sumi (1977)</a> were unable to confirm the reported deficiency of leukocyte peroxidase. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4810892+188403" 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="Dayan, A. D., Trickey, R. J. &lt;strong&gt;Thyroid involvement in juvenile amaurotic idiocy (Batten&#x27;s disease).&lt;/strong&gt; Lancet 292: 296-297, 1970. Note: Originally Volume 2.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4194367/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4194367&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(70)91335-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4194367">Dayan and Trickey (1970)</a> found large amounts of lipofuscin in the thyroid of patients with Batten disease. <a href="#18" class="mim-tip-reference" title="Farrell, D. F., Sumi, S. M. &lt;strong&gt;Skin punch biopsy in the diagnosis of juvenile neuronal ceroid-lipofuscinosis: a comparison with leukocyte peroxidase assay.&lt;/strong&gt; Arch. Neurol. 34: 39-44, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/188403/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;188403&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1977.00500130059012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="188403">Farrell and Sumi (1977)</a> identified fingerprint profiles, curvilinear bodies, and rectilinear bodies in skin biopsies from patients with CLN3. <a href="#5" class="mim-tip-reference" title="Baumann, R. J., Markesbery, W. R. &lt;strong&gt;Juvenile amaurotic idiocy (neuronal ceroid lipofuscinosis) and lymphocyte fingerprint profiles.&lt;/strong&gt; Ann. Neurol. 4: 531-536, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/217298/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;217298&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.410040609&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="217298">Baumann and Markesbery (1978)</a> identified numerous fingerprint profiles ultrastructurally within vacuolated lymphocytes from 4 patients with Batten disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4194367+188403+217298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 7-year-old child with juvenile-onset CLN3, <a href="#8" class="mim-tip-reference" title="Brod, R. D., Packer, A. J., Van Dyk, H. J. &lt;strong&gt;Diagnosis of neuronal ceroid lipofuscinosis by ultrastructural examination of peripheral blood lymphocytes.&lt;/strong&gt; Arch. Ophthal. 105: 1388-1393, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3662914/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3662914&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1987.01060100090034&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3662914">Brod et al. (1987)</a> detected vacuolated peripheral blood lymphocytes and characteristic ultrastructural fingerprint profiles. The patient's mother, who was presumably heterozygous, also demonstrated vacuolated lymphocytes with membranous formations and osmiophilic granular bodies. <a href="#31" class="mim-tip-reference" title="Kimura, S., Goebel, H. H. &lt;strong&gt;Light and electron microscopic study of juvenile neuronal ceroid-lipofuscinosis lymphocytes.&lt;/strong&gt; Pediat. Neurol. 4: 148-152, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3242517/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3242517&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0887-8994(88)90002-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3242517">Kimura and Goebel (1988)</a> examined lymphocytes from 10 patients with juvenile-onset CLN3 and found that vacuolated lymphocytes varied from 34 to 67% in specimens. In addition, the percentage of vacuolated lymphocytes increased with duration of illness up to age 11. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3662914+3242517" 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="#15" class="mim-tip-reference" title="Dawson, G., Dawson, S. A., Siakotos, A. N. &lt;strong&gt;Phospholipases and the molecular basis for the formation of ceroid in Batten disease.&lt;/strong&gt; Adv. Exp. Med. Biol. 266: 259-270, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2486153/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2486153&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/978-1-4899-5339-1_18&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2486153">Dawson et al. (1989)</a> reported decreased levels of cathepsin H (<a href="/entry/116820">116820</a>) and phospholipase A1 in a subset of patients with juvenile-onset CLN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2486153" 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>Subunit C of the Fo region of the ATP synthase complex of the inner mitochondrial membrane is found in high concentrations in lysosomes in late infantile CLN2 and juvenile CLN3. <a href="#33" class="mim-tip-reference" title="Kominami, E., Ezaki, J., Wolfe, L. S. &lt;strong&gt;New insight into lysosomal protein storage disease: delayed catabolism of ATP synthase subunit c in Batten disease.&lt;/strong&gt; Neurochem. Res. 20: 1305-1309, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8786816/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8786816&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00992505&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8786816">Kominami et al. (1995)</a> found marked delay of degradation of subunit C in patient fibroblasts with no significant differences between control and patient cells with regard to degradation of cytochrome oxidase subunit IV. Furthermore, accumulation of labeled subunit C in the mitochondrial fraction was detected before lysosomal appearance of the radiolabeled subunit, suggesting to the authors a specific failure in the degradation of subunit C after its normal inclusion in mitochondria and its consequent accumulation in lysosomes. <a href="#29" class="mim-tip-reference" title="Jolly, R. D. &lt;strong&gt;Batten disease (ceroid-lipofuscinosis): the enigma of subunit c of mitochondrial ATP synthase accumulation.&lt;/strong&gt; Neurochem. Res. 20: 1301-1304, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8786815/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8786815&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00992504&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8786815">Jolly (1995)</a> reported that subunit C represents more than 50% of the accumulated metabolites in the ovine form of CLN and also accumulates significantly in late infantile and juvenile forms of human CLN and several other animal forms. The author suggested that the extreme hydrophobicity and lipophilicity of subunit C may be partially responsible. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8786815+8786816" 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="#49" class="mim-tip-reference" title="Ramirez-Montealegre, D., Pearce, D. A. &lt;strong&gt;Defective lysosomal arginine transport in juvenile Batten disease.&lt;/strong&gt; Hum. Molec. Genet. 14: 3759-3773, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16251196/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16251196&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddi406&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16251196">Ramirez-Montealegre and Pearce (2005)</a> reported that lysosomes from juvenile Batten disease lymphoblast cell lines demonstrated defective transport of arginine. Furthermore, a depletion of arginine in these cells was noted. Lysosomal arginine transport in normal lysosomes is ATP-, vacuolar ATPase (see <a href="/entry/606939">606939</a>)-, and cationic-dependent. Both arginine and lysine are transported by the same transport system, designated system c. However, lysosomes from juvenile Batten disease lymphoblasts were only defective for arginine transport. An antibody to CLN3 was able to block lysosomal arginine transport, and transient expression of CLN3 in JNCL cells restored lysosomal arginine transport. <a href="#49" class="mim-tip-reference" title="Ramirez-Montealegre, D., Pearce, D. A. &lt;strong&gt;Defective lysosomal arginine transport in juvenile Batten disease.&lt;/strong&gt; Hum. Molec. Genet. 14: 3759-3773, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16251196/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16251196&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddi406&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16251196">Ramirez-Montealegre and Pearce (2005)</a> suggested that the CLN3 defect in juvenile Batten disease may affect how intracellular levels of arginine are regulated or distributed throughout the cell. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16251196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CLN3 in the families reported by the <a href="#26" class="mim-tip-reference" title="International Batten Disease Consortium. &lt;strong&gt;Isolation of a novel gene underlying Batten disease, CLN3.&lt;/strong&gt; Cell 82: 949-957, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7553855/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7553855&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(95)90274-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7553855">International Batten Disease Consortium (1995)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7553855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="diagnosis" class="mim-anchor"></a>
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<strong>Diagnosis</strong>
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<p><a href="#6" class="mim-tip-reference" title="Bessman, S. P., Baldwin, R. &lt;strong&gt;Imidazole aminoaciduria in cerebromacular degeneration.&lt;/strong&gt; Science 135: 789-791, 1962.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13868567/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13868567&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.135.3506.789&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13868567">Bessman and Baldwin (1962)</a> found imidazole amino aciduria in 5 patients and some of their immediate relatives in 3 unrelated families. They suggested that the finding might be useful for detection of heterozygotes and for identifying heterogeneity in this category of disease. <a href="#14" class="mim-tip-reference" title="Danes, B. S., Bearn, A. G. &lt;strong&gt;Metachromasia and skin-fibroblast cultures in juvenile familial amaurotic idiocy.&lt;/strong&gt; Lancet 292: 855-856, 1968. Note: Originally Volume 2.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4175745/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4175745&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(68)91005-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4175745">Danes and Bearn (1968)</a> showed that both homozygotes and heterozygotes can be identified on the basis of metachromasia in skin fibroblasts in cell culture. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13868567+4175745" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By polyacrylamide gel electrophoresis (PAGE), <a href="#35" class="mim-tip-reference" title="LaBadie, G. U., Pullarkat, R. K. &lt;strong&gt;Low molecular weight urinary peptides in ceroid-lipofuscinoses: potential biochemical markers for the juvenile subtype.&lt;/strong&gt; Am. J. Med. Genet. 37: 592-599, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1701959/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1701959&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320370434&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1701959">LaBadie and Pullarkat (1990)</a> demonstrated low molecular weight peptides in the urine from patients with Batten disease and suggested that these might be specific biochemical markers for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1701959" 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="#21" class="mim-tip-reference" title="Goebel, H. H. &lt;strong&gt;The neuronal ceroid-lipofuscinoses.&lt;/strong&gt; Semin. Pediat. Neurol. 3: 270-278, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8969009/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8969009&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s1071-9091(96)80031-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8969009">Goebel (1996)</a> reviewed the neuronal ceroid lipofuscinoses and noted that correct diagnosis of disease type requires ultrastructural examination of a patient's cells. CLN3 is characterized by fingerprint profiles, with or without curvilinear profiles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8969009" 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="#27" class="mim-tip-reference" title="Jarvela, I., Mitchison, H. M., Munroe, P. B., O&#x27;Rawe, A. M., Mole, S. E., Syvanen, A.-C. &lt;strong&gt;Rapid diagnostic test for the major mutation underlying Batten disease.&lt;/strong&gt; J. Med. Genet. 33: 1041-1042, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9004140/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9004140&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.33.12.1041&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9004140">Jarvela et al. (1996)</a> developed a rapid diagnostic solid-phase minisequencing test to detect the common 1.02-kb deletion in the CLN3 gene (<a href="/entry/607042#0001">607042.0001</a>). <a href="#58" class="mim-tip-reference" title="Taschner, P. E. M., de Vos, N., Breuning, M. H. &lt;strong&gt;Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.&lt;/strong&gt; J. Med. Genet. 34: 955-956, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9391897/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9391897&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.34.11.955&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9391897">Taschner et al. (1997)</a> described an allele-specific PCR method for detection of the deletion in the CLN3 gene associated with Batten disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9391897+9004140" 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="#39" class="mim-tip-reference" title="Marshall, F. J., de Blieck, E. A., Mink, J. W., Dure, L., Adams, H., Messing, S., Rothberg, P. G., Levy, E., McDonough, T., DeYoung, J., Wang, M., Ramirez-Montealegre, D., Kwon, J. M., Pearce, D. A. &lt;strong&gt;A clinical rating scale for Batten disease: reliable and relevant for clinical trials.&lt;/strong&gt; Neurology 65: 275-279, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16043799/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16043799&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000169019.41332.8a&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16043799">Marshall et al. (2005)</a> developed a multimodal clinical rating instrument, the Unified Batten Disease Rating Scale (UBDRS), to assess motor, behavioral, and functional capabilities of patients with juvenile-onset CLN3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16043799" 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>Prenatal Diagnosis</em></strong></p><p>
<a href="#46" class="mim-tip-reference" title="Munroe, P. B., Rapola, J., Mitchison, H. M., Mustonen, A., Mole, S. E., Gardiner, R. M., Jarvela, I. &lt;strong&gt;Prenatal diagnosis of Batten&#x27;s disease.&lt;/strong&gt; Lancet 347: 1014-1015, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8606564/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8606564&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(96)90148-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8606564">Munroe et al. (1996)</a> used PCR to identify the intragenic microsatellite marker D16S298 to make the prenatal diagnosis of Batten disease on the basis of a chorionic villus sample. The Finnish woman sought counseling because of a son with Batten disease. Allele 6 at the D16S298 marker is present in 96% of Finnish Batten disease patients. Both the fetus and the affected son carried the same high-risk genotype, 6/6, and both were homozygous for the 1-kb deletion. The pregnancy was terminated, and the diagnosis was confirmed by electron microscopy of fetal cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8606564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="clinicalManagement" class="mim-anchor"></a>
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<p>To study the efficacy of dopaminergic medication for extrapyramidal symptoms in juvenile-onset CLN3, <a href="#1" class="mim-tip-reference" title="Aberg, L. E., Rinne, J. O., Rajantie, I., Santavuori, P. &lt;strong&gt;A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis.&lt;/strong&gt; Neurology 56: 1236-1239, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11342698/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11342698&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.56.9.1236&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11342698">Aberg et al. (2001)</a> treated 10 patients with levodopa and 6 patients with selegiline and found a favorable response to levodopa, as measured by scoring on the motor part of the Unified Parkinson Disease Rating Scale. Six of 10 patients treated with levodopa showed decreased symptoms at 1 year, and 4 showed increased symptoms, although 3 of these showed decreased symptoms at 6 months. Patients treated with selegiline and those untreated showed no significant difference at 1 year. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11342698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p><a href="#17" class="mim-tip-reference" title="Eiberg, H., Gardiner, R. M., Mohr, J. &lt;strong&gt;Batten disease (Spielmeyer-Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chromosome 16.&lt;/strong&gt; Clin. Genet. 36: 217-218, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2805379/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2805379&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1989.tb03193.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2805379">Eiberg et al. (1989)</a> found linkage between haptoglobin (HP; <a href="/entry/140100">140100</a>) and Batten disease on chromosome 16q22 (maximum lod score of 3.00). <a href="#20" class="mim-tip-reference" title="Gardiner, M., Sandford, A., Deadman, M., Poulton, J., Cookson, W., Reeders, S., Jokiaho, I., Peltonen, L., Eiberg, H., Julier, C. &lt;strong&gt;Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.&lt;/strong&gt; Genomics 8: 387-390, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2249854/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2249854&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0888-7543(90)90297-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2249854">Gardiner et al. (1990)</a> confirmed the mapping of Batten disease to chromosome 16 (maximum lod score of 6.05 at marker D16S148). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2249854+2805379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By linkage studies in a larger group of families, <a href="#10" class="mim-tip-reference" title="Callen, D. F., Baker, E., Lane, S., Nancarrow, J., Thompson, A., Whitmore, S. A., MacLennan, D. H., Berger, R., Cherif, D., Jarvela, I., Peltonen, L., Sutherland, G. R., Gardiner, R. M. &lt;strong&gt;Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.&lt;/strong&gt; Am. J. Hum. Genet. 49: 1372-1377, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1746562/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1746562&lt;/a&gt;]" pmid="1746562">Callen et al. (1991)</a> concluded that the most likely location for CLN3 is the interval between D16S67 and D16S148. Physical mapping of these markers by mouse/human hybrid cell analysis and fluorescence in situ hybridization positioned them at 16p12.3-p12.1 and 16p12.1-p11.2, respectively. <a href="#10" class="mim-tip-reference" title="Callen, D. F., Baker, E., Lane, S., Nancarrow, J., Thompson, A., Whitmore, S. A., MacLennan, D. H., Berger, R., Cherif, D., Jarvela, I., Peltonen, L., Sutherland, G. R., Gardiner, R. M. &lt;strong&gt;Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.&lt;/strong&gt; Am. J. Hum. Genet. 49: 1372-1377, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1746562/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1746562&lt;/a&gt;]" pmid="1746562">Callen et al. (1991)</a> concluded that CLN3 is in a 2-cM interval on 16p12. <a href="#42" class="mim-tip-reference" title="Mitchison, H. M., Thompson, A. D., Mulley, J. C., Kozman, H. M., Richards, R. I., Callen, D. F., Stallings, R. L., Doggett, N. A., Attwood, J., McKay, T. R., Sutherland, G. R., Gardiner, R. M. &lt;strong&gt;Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.&lt;/strong&gt; Genomics 16: 455-460, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8314582/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8314582&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1993.1210&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8314582">Mitchison et al. (1993)</a> reported the findings in 70 CLN3 families. Crossovers in 3 maternal meioses allowed localization of CLN3 to the interval between D16S297 and D16S57. Haplotype analysis suggested that most CLN3 chromosomes arose from a single founder mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8314582+1746562" 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>Using highly informative dinucleotide repeat markers, <a href="#37" class="mim-tip-reference" title="Lerner, T. J., Boustany, R.-M. N., MacCormack, K., Gleitsman, J., Schlumpf, K., Breakefield, X. O., Gusella, J. F., Haines, J. L. &lt;strong&gt;Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p12.1.&lt;/strong&gt; Am. J. Hum. Genet. 54: 88-94, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8279474/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8279474&lt;/a&gt;]" pmid="8279474">Lerner et al. (1994)</a> refined the localization of CLN3 to 16p12.1. They found that one haplotype, D16S298/D16S299, was highly overrepresented, accounting for 54% of CLN3 chromosomes as compared with 8% of control chromosomes. They conclusively excluded the CLN2 (<a href="/entry/204500">204500</a>) locus from this region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8279474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By haplotype and linkage disequilibrium mapping in 111 affected families, including 27 Finnish families, <a href="#41" class="mim-tip-reference" title="Mitchison, H. M., O&#x27;Rawe, A. M., Taschner, P. E. M., Sandkuijl, L. A., Santavuori, P., de Vos, N., Breuning, M. H., Mole, S. E., Gardiner, R. M., Jarvela, I. E. &lt;strong&gt;Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.&lt;/strong&gt; Am. J. Hum. Genet. 56: 654-662, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7887419/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7887419&lt;/a&gt;]" pmid="7887419">Mitchison et al. (1995)</a> predicted that the CLN3 gene lies 8.8 kb (range 6.3 to 13.8 kb) from D16S298 and 165.4 kb (range 132.4 to 218.1 kb) from D16S299. Enrichment of certain alleles indicated that the same major mutation is responsible for Batten disease in Finland as in most other European countries. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>The <a href="#26" class="mim-tip-reference" title="International Batten Disease Consortium. &lt;strong&gt;Isolation of a novel gene underlying Batten disease, CLN3.&lt;/strong&gt; Cell 82: 949-957, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7553855/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7553855&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(95)90274-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7553855">International Batten Disease Consortium (1995)</a> demonstrated that the mutation responsible for 73% of Batten disease chromosomes was a 1.02-kb deletion in the CLN3 gene (<a href="/entry/607042#0001">607042.0001</a>). In Finland, 90% of patients with Batten disease carry the 1.02-kb deletion (<a href="#27" class="mim-tip-reference" title="Jarvela, I., Mitchison, H. M., Munroe, P. B., O&#x27;Rawe, A. M., Mole, S. E., Syvanen, A.-C. &lt;strong&gt;Rapid diagnostic test for the major mutation underlying Batten disease.&lt;/strong&gt; J. Med. Genet. 33: 1041-1042, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9004140/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9004140&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.33.12.1041&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9004140">Jarvela et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7553855+9004140" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Moroccan child with Batten disease, <a href="#59" class="mim-tip-reference" title="Taschner, P. E. M., de Vos, N., Thompson, A. D., Callen, D. F., Doggett, N., Mole, S. E., Dooley, T. P., Barth, P. G., Breuning, M. H. &lt;strong&gt;Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).&lt;/strong&gt; Am. J. Hum. Genet. 56: 663-668, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7887420/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7887420&lt;/a&gt;]" pmid="7887420">Taschner et al. (1995)</a> found homozygosity for a small deletion in the CLN3 gene (<a href="/entry/607042#0003">607042.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887420" 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="#45" class="mim-tip-reference" title="Munroe, P. B., Mitchison, H. M., O&#x27;Rawe, A. M., Anderson, J. W., Boustany, R.-M., Lerner, T. J., Taschner, P. E. M., de Vos, N., Breuning, M. H., Gardiner, R. M., Mole, S. E. &lt;strong&gt;Spectrum of mutations in the Batten disease gene, CLN3.&lt;/strong&gt; Am. J. Hum. Genet. 61: 310-316, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9311735/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9311735&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/514846&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9311735">Munroe et al. (1997)</a> identified homozygosity for the common 1.02-kb CLN3 deletion in 139 (74%) of 188 unrelated patients with Batten disease; 41 were compound heterozygous for the deletion and another CLN3 mutation. By SSCP analysis and direct sequencing, <a href="#45" class="mim-tip-reference" title="Munroe, P. B., Mitchison, H. M., O&#x27;Rawe, A. M., Anderson, J. W., Boustany, R.-M., Lerner, T. J., Taschner, P. E. M., de Vos, N., Breuning, M. H., Gardiner, R. M., Mole, S. E. &lt;strong&gt;Spectrum of mutations in the Batten disease gene, CLN3.&lt;/strong&gt; Am. J. Hum. Genet. 61: 310-316, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9311735/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9311735&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/514846&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9311735">Munroe et al. (1997)</a> found 19 novel mutations in the CLN3 gene, bringing the total number of known disease-associated mutations in CLN3 to 23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9311735" 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="#43" class="mim-tip-reference" title="Mole, S. E., Mitchison, H. M., Munroe, P. B. &lt;strong&gt;Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.&lt;/strong&gt; Hum. Mutat. 14: 199-215, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10477428/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10477428&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1999)14:3&lt;199::AID-HUMU3&gt;3.0.CO;2-A&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10477428">Mole et al. (1999)</a> tabulated the mutations that had been identified in the various CLNs; they reported 25 mutations and 2 polymorphisms associated with CLN3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10477428" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="genotypePhenotypeCorrelations" class="mim-anchor"></a>
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<strong>Genotype/Phenotype Correlations</strong>
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<p><a href="#32" class="mim-tip-reference" title="Kitzmuller, C., Haines, R. L., Codlin, S., Cutler, D. F., Mole, S. E. &lt;strong&gt;A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.&lt;/strong&gt; Hum. Molec. Genet. 17: 303-312, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17947292/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17947292&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm306&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17947292">Kitzmuller et al. (2008)</a> demonstrated that the common 1.02-kb deletion retains residual function. Overexpression of the mutant CLN3 transcripts consistently caused lysosomes to decrease in size. Studies in mouse cell models and yeast confirmed that the corresponding mutant transcripts retained significant function. The majority of the mutant 1.02-kb deletion CLN3 protein was retained within the endoplasmic reticulum. <a href="#32" class="mim-tip-reference" title="Kitzmuller, C., Haines, R. L., Codlin, S., Cutler, D. F., Mole, S. E. &lt;strong&gt;A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.&lt;/strong&gt; Hum. Molec. Genet. 17: 303-312, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17947292/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17947292&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddm306&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17947292">Kitzmuller et al. (2008)</a> concluded that the common mutant CLN3 protein retains significant function and that JNCL is a mutation-specific disease phenotype. The residual function likely explains why this form of CLN shows later onset and less severe clinical manifestations compared to other forms of CLN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17947292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="populationGenetics" class="mim-anchor"></a>
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Population Genetics</strong>
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<p>In West Germany, <a href="#12" class="mim-tip-reference" title="Claussen, M., Heim, P., Knispel, J., Goebel, H. H., Kohlschutter, A. &lt;strong&gt;Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders.&lt;/strong&gt; Am. J. Med. Genet. 42: 536-538, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1609834/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1609834&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420422&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1609834">Claussen et al. (1992)</a> estimated the frequency of juvenile-onset CLN3 to be 0.71 per 100,000 live births and of CLN2 to be 0.46 per 100,000 live births. The estimates were based on a novel method applicable to other autosomal recessive disorders. For 10 years, 1968 through 1977, the slope of registration of new cases was a steep, nearly straight line. The authors presumed that this represented a period of efficient registration of new cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1609834" 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>CLN3 is especially enriched in Finland with an incidence of 1:21,000 live births and a carrier frequency of 1 in 70 (<a href="#41" class="mim-tip-reference" title="Mitchison, H. M., O&#x27;Rawe, A. M., Taschner, P. E. M., Sandkuijl, L. A., Santavuori, P., de Vos, N., Breuning, M. H., Mole, S. E., Gardiner, R. M., Jarvela, I. E. &lt;strong&gt;Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.&lt;/strong&gt; Am. J. Hum. Genet. 56: 654-662, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7887419/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7887419&lt;/a&gt;]" pmid="7887419">Mitchison et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="history" class="mim-anchor"></a>
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<strong>History</strong>
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<p><a href="#61" class="mim-tip-reference" title="Tuck-Muller, C. M., Dyken, P. R., Li, S., Chen, H., Labbe, E., Wertelecki, W. &lt;strong&gt;Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease).&lt;/strong&gt; Am. J. Med. Genet. 57: 168-171, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7668324/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7668324&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320570212&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7668324">Tuck-Muller et al. (1995)</a> observed a balanced translocation between chromosomes 10 and 18, t(10;18)(q22.1;q21.1), in a girl with typical Batten disease beginning at 5 years of age. The intracellular cytosomes were predominantly fingerprint in type. Translocation was not observed in the patient's mother or sister. The father was unavailable for analysis. Although <a href="#61" class="mim-tip-reference" title="Tuck-Muller, C. M., Dyken, P. R., Li, S., Chen, H., Labbe, E., Wertelecki, W. &lt;strong&gt;Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease).&lt;/strong&gt; Am. J. Med. Genet. 57: 168-171, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7668324/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7668324&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320570212&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7668324"> Tuck-Muller et al. (1995)</a> stated that the translocation may be unrelated to the disease, the findings raised the possibility of genetic heterogeneity in this form of CLN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668324" 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 model of Batten disease in sheep was discussed by <a href="#28" class="mim-tip-reference" title="Jolly, R. D., Martinus, R. D., Palmer, D. N. &lt;strong&gt;Sheep and other animals with ceroid-lipofuscinoses: their relevance to Batten disease.&lt;/strong&gt; Am. J. Med. Genet. 42: 609-614, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1535180/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1535180&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420436&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1535180">Jolly et al. (1992)</a> and a model in the dog by <a href="#34" class="mim-tip-reference" title="Koppang, N. &lt;strong&gt;English setter model and juvenile ceroid-lipofuscinosis in man.&lt;/strong&gt; Am. J. Med. Genet. 42: 599-604, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1609842/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1609842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420434&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1609842">Koppang (1992)</a> and <a href="#60" class="mim-tip-reference" title="Taylor, R. M., Farrow, B. R. H. &lt;strong&gt;Ceroid lipofuscinosis in the border collie dog: retinal lesions in an animal model of juvenile Batten disease.&lt;/strong&gt; Am. J. Med. Genet. 42: 622-627, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1319117/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1319117&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320420438&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1319117">Taylor and Farrow (1992)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1609842+1535180+1319117" 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 yeast model for the study of Batten disease was created by <a href="#48" class="mim-tip-reference" title="Pearce, D. A., Sherman, F. &lt;strong&gt;A yeast model for the study of Batten disease.&lt;/strong&gt; Proc. Nat. Acad. Sci. 95: 6915-6918, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9618513/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9618513&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=9618513[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.95.12.6915&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9618513">Pearce and Sherman (1998)</a>. They had previously cloned the Saccharomyces cerevisiae homolog of the CLN3 gene, designated BTN1. The amino acid structure of the yeast and human proteins had been shown to be 39% identical and 59% similar. They reported that BTN1-delta deletion yeast strains were more resistant to a chemical denoted ANP, a phenotype that could be complemented in yeast by the human CLN3 gene. Furthermore, the severity of Batten disease in humans and the degree of ANP resistance in yeast were related when the equivalent amino acid replacements in the CLN3 and the BTN1 proteins were compared. These results indicated that yeast can be used as a model for the study of Batten disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9618513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Chattopadhyay, S., Ito, M., Cooper, J. D., Brooks, A. I., Curran, T. M., Powers, J. M., Pearce, D. A. &lt;strong&gt;An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease.&lt;/strong&gt; Hum. Molec. Genet. 11: 1421-1431, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12023984/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12023984&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/11.12.1421&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12023984">Chattopadhyay et al. (2002)</a> reported neutralizing autoantibodies to glutamic acid decarboxylase (GAD2; <a href="/entry/138275">138275</a>) in Cln3-knockout mice serum that associates with brain tissue but is not present in sera or brain of normal mice. A concomitant elevation of glutamate in the brain of Cln3-knockout mice colocalized with presynaptic markers. An autoantibody to GAD2 was present in sera of all 20 individuals tested with Batten disease, and postmortem brain tissue from 1 patient showed decreased reactivity to an anti-GAD antibody. The authors proposed that an autoimmune response to GAD2 may contribute to a preferential loss of GABAergic neurons associated with Batten disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12023984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
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<a href="#Gadoth1978" class="mim-tip-reference" title="Gadoth, N. &lt;strong&gt;Neuronal ceroid-lipofuscinosis (Batten&#x27;s disease): diagnostic approach and results of therapeutic trial.&lt;/strong&gt; Metab. Ophthal. 2: 193-196, 1978.">Gadoth (1978)</a>; <a href="#Gordon1972" class="mim-tip-reference" title="Gordon, N. S., Marsden, H. B., Noronha, M. J. &lt;strong&gt;Neuronal ceroid lipofuscinosis (Batten&#x27;s disease).&lt;/strong&gt; Arch. Dis. Child. 47: 285-291, 1972.">Gordon et al. (1972)</a>; <a href="#Harlem1960" class="mim-tip-reference" title="Harlem, O. K. &lt;strong&gt;Juvenile cerebroretinal degeneration (Spielmeyer-Vogt).&lt;/strong&gt; Am. J. Dis. Child. 100: 918-923, 1960.">Harlem (1960)</a>; <a href="#Hittner1975" class="mim-tip-reference" title="Hittner, H. M., Zeller, R. S. &lt;strong&gt;Ceroid-lipofuscinosis (Batten disease): fluorescein angiography, electrophysiology, histopathology, ultrastructure, and a review of amaurotic familial idiocy.&lt;/strong&gt; Arch. Ophthal. 93: 178-183, 1975.">Hittner and
Zeller (1975)</a>; <a href="#Kimura1987" class="mim-tip-reference" title="Kimura, S., Goebel, H. H. &lt;strong&gt;Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis.&lt;/strong&gt; Brain Dev. 9: 576-580, 1987.">Kimura and Goebel (1987)</a>; <a href="#Lake1978" class="mim-tip-reference" title="Lake, B. D., Cavanagh, N. P. C. &lt;strong&gt;Early-juvenile Batten&#x27;s disease--a recognisable sub-group distinct from other forms of Batten&#x27;s disease: analysis of 5 patients.&lt;/strong&gt; J. Neurol. Sci. 36: 265-271, 1978.">Lake and Cavanagh (1978)</a>; <a href="#Levenson1964" class="mim-tip-reference" title="Levenson, J., Lindahl-Kiessling, K., Rayner, S. &lt;strong&gt;Carnosine excretion in juvenile amaurotic idiocy.&lt;/strong&gt; Lancet 284: 756-757, 1964. Note: Originally Volume 2.">Levenson et al. (1964)</a>; <a href="#Rayner1962" class="mim-tip-reference" title="Rayner, S. &lt;strong&gt;Juvenile amaurotic idiocy in Sweden with particular reference to the occurrence of vacuoles in the lymphocytes of homo- and heterozygotes.&lt;/strong&gt; Uppsala: Univ. of Uppsala (pub.) 1962.">Rayner (1962)</a>; <a href="#Riis1992" class="mim-tip-reference" title="Riis, R. C., Cummings, J. F., Loew, E. R., de Lahunta, A. &lt;strong&gt;Tibetan terrier model of canine ceroid lipofuscinosis.&lt;/strong&gt; Am. J. Med. Genet. 42: 615-621, 1992.">Riis et al. (1992)</a>; <a href="#Seitelberger1967" class="mim-tip-reference" title="Seitelberger, F., Jacob, H., Schnabel, R. &lt;strong&gt;The myoclonic variant of cerebral lipidosis. In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism.&lt;/strong&gt; Oxford: Pergamon Press (pub.) 1967. Pp. 43-74.">Seitelberger et al. (1967)</a>; <a href="#Sjogren1931" class="mim-tip-reference" title="Sjogren, T. &lt;strong&gt;Die juvenile amaurotische Idiotie. Klinische und erblichkeitsmedizinische Untersuchungen.&lt;/strong&gt; Hereditas 14: 197-426, 1931.">Sjogren (1931)</a>; <a href="#Smith1974" class="mim-tip-reference" title="Smith, H. &lt;strong&gt;Sea-blue histiocytes in marrow in Batten-Spielmeyer-Vogt disease.&lt;/strong&gt; Pathology 6: 323-327, 1974.">Smith (1974)</a>; <a href="#Zeman1967" class="mim-tip-reference" title="Zeman, W., Strouth, J. C. &lt;strong&gt;Leukocytic hypergranulation versus lymphocytic vacuolization as markers for heterozygotes and with Batten-Spielmeyer-Vogt disease. In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism.&lt;/strong&gt; Oxford: Pergamon Press (pub.) 1967. Pp. 475-484.">Zeman and
Strouth (1967)</a>
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<a id="references"class="mim-anchor"></a>
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<a id="1" class="mim-anchor"></a>
<a id="Aberg2001" class="mim-anchor"></a>
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Aberg, L. E., Rinne, J. O., Rajantie, I., Santavuori, P.
<strong>A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis.</strong>
Neurology 56: 1236-1239, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11342698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11342698</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11342698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.56.9.1236" target="_blank">Full Text</a>]
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<a id="Armstrong1974" class="mim-anchor"></a>
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<p class="mim-text-font">
Armstrong, D., Dimmitt, S., VanWormer, D. E.
<strong>Studies in Batten disease.</strong>
Arch. Neurol. 30: 144-152, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4810892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4810892</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4810892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archneur.1974.00490320032004" target="_blank">Full Text</a>]
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<a id="Batten1903" class="mim-anchor"></a>
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Batten, F. E.
<strong>Cerebral degeneration with symmetrical changes in the maculae in two members of a family.</strong>
Trans. Ophthal. Soc. U.K. 23: 386-390, 1903.
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<a id="Batten1914" class="mim-anchor"></a>
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Batten, F. E.
<strong>Family cerebral degeneration with macular change (so-called juvenile form of family amaurotic idiocy).</strong>
Quart. J. Med. 7: 444-453, 1914.
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<a id="Baumann1978" class="mim-anchor"></a>
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Baumann, R. J., Markesbery, W. R.
<strong>Juvenile amaurotic idiocy (neuronal ceroid lipofuscinosis) and lymphocyte fingerprint profiles.</strong>
Ann. Neurol. 4: 531-536, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/217298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">217298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=217298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.410040609" target="_blank">Full Text</a>]
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<a id="Bessman1962" class="mim-anchor"></a>
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<p class="mim-text-font">
Bessman, S. P., Baldwin, R.
<strong>Imidazole aminoaciduria in cerebromacular degeneration.</strong>
Science 135: 789-791, 1962.
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[<a href="https://doi.org/10.1126/science.135.3506.789" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320420421" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archopht.1987.01060100090034" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1055/s-2008-1059626" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/11.12.1421" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320420422" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/WNL.0000000000000490" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(68)91005-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/978-1-4899-5339-1_18" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(70)91335-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1989.tb03193.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1977.00500130059012" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90297-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s1071-9091(96)80031-3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archopht.1975.01010020186003" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(95)90274-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.33.12.1041" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320420436" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0387-7604(87)80088-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320370434" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1210" target="_blank">Full Text</a>]
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<strong>Sea-blue histiocytes in marrow in Batten-Spielmeyer-Vogt disease.</strong>
Pathology 6: 323-327, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4141494/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4141494</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4141494" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3109/00313027409077342" target="_blank">Full Text</a>]
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<a id="56" class="mim-anchor"></a>
<a id="Spalton1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spalton, D. J., Taylor, D. S. I., Sanders, M. D.
<strong>Juvenile Batten's disease: an ophthalmological assessment of 26 patients.</strong>
Brit. J. Ophthal. 64: 726-732, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7426545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7426545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7426545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/bjo.64.10.726" target="_blank">Full Text</a>]
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<a id="57" class="mim-anchor"></a>
<a id="Strouth1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Strouth, J. C., Zeman, W., Merritt, A. D.
<strong>Leukocyte abnormalities in familial amaurotic idiocy.</strong>
New Eng. J. Med. 274: 36-38, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5948112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5948112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5948112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM196601062740107" target="_blank">Full Text</a>]
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<a id="58" class="mim-anchor"></a>
<a id="Taschner1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Taschner, P. E. M., de Vos, N., Breuning, M. H.
<strong>Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.</strong>
J. Med. Genet. 34: 955-956, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9391897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9391897</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9391897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.34.11.955" target="_blank">Full Text</a>]
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<a id="59" class="mim-anchor"></a>
<a id="Taschner1995" class="mim-anchor"></a>
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Taschner, P. E. M., de Vos, N., Thompson, A. D., Callen, D. F., Doggett, N., Mole, S. E., Dooley, T. P., Barth, P. G., Breuning, M. H.
<strong>Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).</strong>
Am. J. Hum. Genet. 56: 663-668, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887420</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887420" 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="60" class="mim-anchor"></a>
<a id="Taylor1992" class="mim-anchor"></a>
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Taylor, R. M., Farrow, B. R. H.
<strong>Ceroid lipofuscinosis in the border collie dog: retinal lesions in an animal model of juvenile Batten disease.</strong>
Am. J. Med. Genet. 42: 622-627, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1319117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1319117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1319117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320420438" target="_blank">Full Text</a>]
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<a id="61" class="mim-anchor"></a>
<a id="Tuck-Muller1995" class="mim-anchor"></a>
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Tuck-Muller, C. M., Dyken, P. R., Li, S., Chen, H., Labbe, E., Wertelecki, W.
<strong>Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease).</strong>
Am. J. Med. Genet. 57: 168-171, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668324</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320570212" target="_blank">Full Text</a>]
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<a id="62" class="mim-anchor"></a>
<a id="Wisniewski1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wisniewski, K. E., Kida, E., Patxot, O. F., Connell, F.
<strong>Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations.</strong>
Am. J. Med. Genet. 42: 525-532, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1319116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1319116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1319116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320420420" target="_blank">Full Text</a>]
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<a id="63" class="mim-anchor"></a>
<a id="Wisniewski1998" class="mim-anchor"></a>
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<p class="mim-text-font">
Wisniewski, K. E., Zhong, N., Kaczmarski, W., Kaczmarski, A., Kida, E., Brown, W. T., Schwarz, K. O., Lazzarini, A. M., Rubin, A. J., Stenroos, E. S., Johnson, W. G., Wisniewski, T. M.
<strong>Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis.</strong>
Ann. Neurol. 43: 106-110, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9450775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.410430118" target="_blank">Full Text</a>]
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<a id="64" class="mim-anchor"></a>
<a id="Zeman1963" class="mim-anchor"></a>
<div class="">
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Zeman, W., Donahue, S.
<strong>Fine structure of the lipid bodies in juvenile amaurotic idiocy.</strong>
Acta Neuropath. 3: 144-149, 1963.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14196530/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14196530</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14196530" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00687063" target="_blank">Full Text</a>]
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<a id="65" class="mim-anchor"></a>
<a id="Zeman1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zeman, W., Strouth, J. C.
<strong>Leukocytic hypergranulation versus lymphocytic vacuolization as markers for heterozygotes and with Batten-Spielmeyer-Vogt disease. In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism.</strong>
Oxford: Pergamon Press (pub.) 1967. Pp. 475-484.
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<span class="mim-text-font">
Jane Kelly - updated : 8/11/2015
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Cassandra L. Kniffin - updated : 6/23/2014<br>Cassandra L. Kniffin - updated : 5/20/2009<br>George E. Tiller - updated : 4/23/2009<br>Cassandra L. Kniffin - reorganized : 3/24/2006<br>Cassandra L. Kniffin - updated : 3/16/2006<br>Cassandra L. Kniffin - updated : 10/31/2005<br>George E. Tiller - updated : 2/26/2003<br>Cassandra L. Kniffin - reorganized : 6/18/2002<br>Cassandra L. Kniffin - updated : 6/7/2002<br>Victor A. McKusick - updated : 4/23/2002<br>George E. Tiller - updated : 2/19/2002<br>George E. Tiller - updated : 4/26/2000<br>Victor A. McKusick - updated : 10/29/1999<br>Victor A. McKusick - updated : 6/1/1999<br>Ada Hamosh - updated : 4/1/1999<br>Orest Hurko - updated : 3/24/1999<br>Victor A. McKusick - updated : 7/7/1998<br>Victor A. McKusick - updated : 6/30/1998<br>Michael J. Wright - updated : 6/17/1998<br>Jennifer P. Macke - updated : 5/21/1998<br>Rebekah S. Rasooly - updated : 3/7/1998<br>Victor A. McKusick - updated : 9/24/1997<br>Victor A. McKusick - updated : 2/7/1997<br>Orest Hurko - updated : 4/4/1996<br>Orest Hurko - updated : 7/25/1995
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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Victor A. McKusick : 6/23/1986
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alopez : 04/27/2023
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carol : 03/09/2022<br>carol : 03/08/2022<br>carol : 03/20/2020<br>carol : 10/14/2016<br>mcolton : 08/12/2015<br>carol : 8/11/2015<br>carol : 3/17/2015<br>mcolton : 3/16/2015<br>ckniffin : 6/23/2014<br>ckniffin : 7/11/2011<br>terry : 9/21/2010<br>ckniffin : 5/24/2010<br>wwang : 5/20/2009<br>wwang : 4/30/2009<br>terry : 4/23/2009<br>terry : 4/9/2009<br>terry : 5/20/2008<br>wwang : 6/1/2007<br>terry : 5/21/2007<br>carol : 3/24/2006<br>ckniffin : 3/24/2006<br>carol : 3/22/2006<br>ckniffin : 3/21/2006<br>ckniffin : 3/17/2006<br>ckniffin : 3/16/2006<br>wwang : 11/3/2005<br>ckniffin : 10/31/2005<br>terry : 4/18/2005<br>ckniffin : 9/23/2003<br>ckniffin : 7/30/2003<br>carol : 5/29/2003<br>cwells : 2/26/2003<br>carol : 6/21/2002<br>ckniffin : 6/19/2002<br>ckniffin : 6/18/2002<br>ckniffin : 6/18/2002<br>carol : 6/17/2002<br>ckniffin : 6/7/2002<br>alopez : 5/3/2002<br>terry : 4/23/2002<br>cwells : 2/19/2002<br>cwells : 2/19/2002<br>mcapotos : 5/22/2001<br>terry : 5/11/2001<br>alopez : 4/26/2000<br>mgross : 11/17/1999<br>terry : 10/29/1999<br>terry : 10/29/1999<br>kayiaros : 7/13/1999<br>jlewis : 6/7/1999<br>jlewis : 6/7/1999<br>terry : 6/1/1999<br>mgross : 4/8/1999<br>mgross : 4/1/1999<br>carol : 3/24/1999<br>terry : 7/24/1998<br>dkim : 7/23/1998<br>dkim : 7/23/1998<br>carol : 7/9/1998<br>terry : 7/7/1998<br>alopez : 7/6/1998<br>terry : 6/30/1998<br>carol : 6/17/1998<br>terry : 6/17/1998<br>terry : 6/5/1998<br>dholmes : 5/21/1998<br>dholmes : 5/21/1998<br>dholmes : 4/16/1998<br>carol : 3/7/1998<br>terry : 9/30/1997<br>terry : 9/24/1997<br>terry : 9/15/1997<br>alopez : 7/10/1997<br>mark : 7/9/1997<br>mark : 7/9/1997<br>joanna : 7/7/1997<br>jenny : 7/2/1997<br>mark : 2/7/1997<br>jamie : 2/4/1997<br>jamie : 2/4/1997<br>terry : 2/3/1997<br>terry : 9/10/1996<br>terry : 8/22/1996<br>mark : 7/11/1996<br>terry : 6/18/1996<br>mark : 4/4/1996<br>terry : 3/23/1996<br>mark : 12/4/1995<br>terry : 11/17/1995<br>mimadm : 11/12/1995<br>mark : 3/29/1995<br>davew : 8/9/1994<br>pfoster : 4/25/1994
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<span class="mim-font">
<strong>#</strong> 204200
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<span class="mim-font">
CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
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<em>Alternative titles; symbols</em>
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NEURONAL CEROID LIPOFUSCINOSIS, JUVENILE; JNCL<br />
BATTEN DISEASE<br />
VOGT-SPIELMEYER DISEASE<br />
SPIELMEYER-SJOGREN DISEASE
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<strong>SNOMEDCT:</strong> 61663001; &nbsp;
<strong>ICD10CM:</strong> E75.4; &nbsp;
<strong>DO:</strong> 0110731; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
16p12.1
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Ceroid lipofuscinosis, neuronal, 3
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<span class="mim-font">
204200
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Autosomal recessive
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3
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CLN3
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607042
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-3 (CLN3) is caused by homozygous or compound heterozygous mutation in the CLN3 gene (607042) on chromosome 16p12.</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 clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). </p><p>The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (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>The CLNs were originally classified broadly according to age at onset, with CLN3 as the juvenile-onset form (JNCL), with onset between 4 and 10 years of age. With the identification of molecular defects, however, the CLNs are now classified numerically according to the underlying gene defect. CLN3 refers to CLN caused by mutation in the CLN3 gene, regardless of the age at onset.</p><p>JNCL has also been called Batten disease, Vogt-Spielmeyer disease, and Spielmeyer-Sjogren disease. Mole et al. (1999) used 'Batten disease' as a generic designation for the NCLs, which they defined as a group of neurodegenerative disorders characterized by the accumulation of an autofluorescent lipopigment in many cell types. </p>
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<h4>
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<strong>Clinical Features</strong>
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<p>Batten (1903, 1914) described juvenile-onset of a familial form of 'cerebral degeneration with macular changes.'</p><p>Spalton et al. (1980) reviewed 26 patients with Batten disease. Children presented with rapid progressive visual loss at age 6 to 7 years, early mental deterioration, and seizures. Macular degeneration was a consistent early feature, and peripheral retinal changes became more marked as the disease progressed. </p><p>Wisniewski et al. (1992) reviewed the clinical and pathologic features of 163 patients with juvenile-onset CLN. The disorder was characterized by onset at 4 to 10 years of age of gradual visual loss with macular degeneration, optic atrophy, and/or retinitis pigmentosa. Other features included seizures and gradual mental and motor dysfunction. Ultrastructural examination of neuronal and nonneuronal tissues showed fingerprint inclusions. The youngest age at death was 16 years, and the oldest living patient was 40 years old but had been in a vegetative state for 21 years. </p><p>In a review of 57 patients with CLN3, Boustany (1992) concluded that the first symptom was insidious onset of retinitis pigmentosa between ages 4 and 6 years, which was often not identified before age 7 or 8 years. Visual decline was followed by progressive cognitive decline, and most patients developed seizures by age 10 years. Other motor symptoms included myoclonus, parkinsonism, and a severe dysarthria resulting in mutism in their twenties. Most patients developed behavioral problems with angry outbursts, physical violence, and features of depression. </p><p>Taschner et al. (1995) reported a Moroccan child, born of consanguineous parents, with Batten disease. He had a typical clinical history of failing vision at the age of 9 years, leading to a diagnosis of tapetoretinal degeneration with normal neurologic examinations and scanning studies at that time. He became forgetful shortly after the start of visual deterioration and had, from the age of 11 years, generalized seizures that were well controlled by valproic acid. More than 1% of lymphocytes were vacuolated, most of which contained storage material in a 'fingerprint' pattern. At the age of 19 years, he developed parkinsonism without tremor. Molecular genetic studies identified a small homozygous deletion in the CLN3 gene (607042.0003). </p><p>The International Batten Disease Consortium (1995) reported a Finnish patient with Batten disease confirmed by identification of compound heterozygosity for 2 deletions in the CLN3 gene (607042.0001; 607042.0002). After a normal birth and early childhood, he developed failing vision at age 6.5 years. Electroretinogram was abolished, and visual evoked potential was abnormal with delayed latency. Slight motor clumsiness and muscular hypotonia were found. Vacuolated lymphocytes were positive on repeated examinations. From age 11, he had generalized epileptic seizures that were well controlled by sodium valproate-clonazepam. An MRI at age 16 showed slight central, cortical, and cerebellar atrophy. The patient was still able to walk independently, but jumping had become difficult. </p><p>Wisniewski et al. (1998) reported 2 sibs with a protracted form of juvenile-onset CLN3: the sister died at age 51 of aspiration pneumonia and the brother was living at age 39. The sister developed progressive visual loss at 5 years of age and became totally blind at age 13. From 45 years of age, she had progressive impairment of coordination, memory loss, problems with naming and calculation, and episodes of confusion. A general examination at age 48 was normal. Neurologic examination showed disorientation for time and space, impairment of short- and long-term memory, dysarthria, oromandibular dystonia, and naming deficit. A pendular nystagmus was present. The optic fundi showed optic nerve atrophy, pigmentary retinal degeneration, and spicules. The brother began to lose vision at age 5 years, leading to blindness at the age of 12. The main finding on examination was blindness secondary to optic atrophy and pigmentary retinal degeneration. Both were compound heterozygous for 2 mutations in the CLN3 gene (607042.0001; 607042.0005). </p><p>Cortese et al. (2014) reported 2 adult Italian brothers, born in a consanguineous family, with a protracted form of CLN3 confirmed by genetic analysis (G165E; 607042.0007). Both sibs presented at age 7 years with visual loss, which rapidly progressed to total blindness due to retinitis pigmentosa. Psychomotor development was normal. At ages 36 and 29 years, respectively, both developed well-controlled generalized seizures and severe concentric hypertrophic cardiomyopathy requiring pacemakers. Brain imaging showed mild cerebral and cerebellar vermian atrophy. Both sibs later showed mild cognitive impairment, but there was no evidence of muscle impairment except for mildly increased serum creatine kinase. Muscle biopsy showed autophagic vacuoles with glycogen and myelin-like debris, as well as autofluorescence. Electron-dense material formed structures similar to curvilinear bodies. Lymphocytes showed cytoplasmic vacuolization. </p><p>Nielsen et al. (2015) studied the ophthalmologic features in all 35 patients with JNCL born in Denmark between 1971 and 2003. During the study period (1996-2012), cataracts were detected in 5 patients at the average age of 20.1 + 1.6 years (mean, +2 SD). All 5 patients had the common 1.02-kb deletion in the CLN3 gene (607042.0001). Two of the 5 patients developed acute glaucoma, and 1 patient underwent prophylactic cataract surgery. Nielsen et al. (2015) concluded that presenile cataract formation and secondary acute glaucoma are complications of JNCL for which patients over the age of 16 years should be screened routinely. </p><p><strong><em>Pathologic Features</em></strong></p><p>
The major pathologic features of Batten disease are (1) severe widespread neuronal degeneration resulting in retinal atrophy and in massive loss of brain substance, the average brain weight being about 600 gm, and (2) accumulation of lipofuscin in neuronal perikaryon (Zeman and Donahue, 1963; Gonatas et al., 1963). </p><p>Vacuolation of the lymphocytes is a well-established feature in the homozygote (McKusick, 1963). Although Rayner (1963) claimed that about 1% of lymphocytes are vacuolated in heterozygotes, Burrig et al. (1982) concluded that cytoplasmic vacuoles and inclusions occur only in homozygotes. Strouth et al. (1966) reported characteristic leukocyte abnormalities in juvenile-onset CLN. </p><p>Armstrong et al. (1974) reported deficiency of leukocyte peroxidase in patients with the CLN2 (204500) and CLN3; however, Farrell and Sumi (1977) were unable to confirm the reported deficiency of leukocyte peroxidase. </p><p>Dayan and Trickey (1970) found large amounts of lipofuscin in the thyroid of patients with Batten disease. Farrell and Sumi (1977) identified fingerprint profiles, curvilinear bodies, and rectilinear bodies in skin biopsies from patients with CLN3. Baumann and Markesbery (1978) identified numerous fingerprint profiles ultrastructurally within vacuolated lymphocytes from 4 patients with Batten disease. </p><p>In a 7-year-old child with juvenile-onset CLN3, Brod et al. (1987) detected vacuolated peripheral blood lymphocytes and characteristic ultrastructural fingerprint profiles. The patient's mother, who was presumably heterozygous, also demonstrated vacuolated lymphocytes with membranous formations and osmiophilic granular bodies. Kimura and Goebel (1988) examined lymphocytes from 10 patients with juvenile-onset CLN3 and found that vacuolated lymphocytes varied from 34 to 67% in specimens. In addition, the percentage of vacuolated lymphocytes increased with duration of illness up to age 11. </p><p>Dawson et al. (1989) reported decreased levels of cathepsin H (116820) and phospholipase A1 in a subset of patients with juvenile-onset CLN. </p><p>Subunit C of the Fo region of the ATP synthase complex of the inner mitochondrial membrane is found in high concentrations in lysosomes in late infantile CLN2 and juvenile CLN3. Kominami et al. (1995) found marked delay of degradation of subunit C in patient fibroblasts with no significant differences between control and patient cells with regard to degradation of cytochrome oxidase subunit IV. Furthermore, accumulation of labeled subunit C in the mitochondrial fraction was detected before lysosomal appearance of the radiolabeled subunit, suggesting to the authors a specific failure in the degradation of subunit C after its normal inclusion in mitochondria and its consequent accumulation in lysosomes. Jolly (1995) reported that subunit C represents more than 50% of the accumulated metabolites in the ovine form of CLN and also accumulates significantly in late infantile and juvenile forms of human CLN and several other animal forms. The author suggested that the extreme hydrophobicity and lipophilicity of subunit C may be partially responsible. </p><p>Ramirez-Montealegre and Pearce (2005) reported that lysosomes from juvenile Batten disease lymphoblast cell lines demonstrated defective transport of arginine. Furthermore, a depletion of arginine in these cells was noted. Lysosomal arginine transport in normal lysosomes is ATP-, vacuolar ATPase (see 606939)-, and cationic-dependent. Both arginine and lysine are transported by the same transport system, designated system c. However, lysosomes from juvenile Batten disease lymphoblasts were only defective for arginine transport. An antibody to CLN3 was able to block lysosomal arginine transport, and transient expression of CLN3 in JNCL cells restored lysosomal arginine transport. Ramirez-Montealegre and Pearce (2005) suggested that the CLN3 defect in juvenile Batten disease may affect how intracellular levels of arginine are regulated or distributed throughout the cell. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of CLN3 in the families reported by the International Batten Disease Consortium (1995) was consistent with autosomal recessive inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Bessman and Baldwin (1962) found imidazole amino aciduria in 5 patients and some of their immediate relatives in 3 unrelated families. They suggested that the finding might be useful for detection of heterozygotes and for identifying heterogeneity in this category of disease. Danes and Bearn (1968) showed that both homozygotes and heterozygotes can be identified on the basis of metachromasia in skin fibroblasts in cell culture. </p><p>By polyacrylamide gel electrophoresis (PAGE), LaBadie and Pullarkat (1990) demonstrated low molecular weight peptides in the urine from patients with Batten disease and suggested that these might be specific biochemical markers for this disorder. </p><p>Goebel (1996) reviewed the neuronal ceroid lipofuscinoses and noted that correct diagnosis of disease type requires ultrastructural examination of a patient's cells. CLN3 is characterized by fingerprint profiles, with or without curvilinear profiles. </p><p>Jarvela et al. (1996) developed a rapid diagnostic solid-phase minisequencing test to detect the common 1.02-kb deletion in the CLN3 gene (607042.0001). Taschner et al. (1997) described an allele-specific PCR method for detection of the deletion in the CLN3 gene associated with Batten disease. </p><p>Marshall et al. (2005) developed a multimodal clinical rating instrument, the Unified Batten Disease Rating Scale (UBDRS), to assess motor, behavioral, and functional capabilities of patients with juvenile-onset CLN3. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Munroe et al. (1996) used PCR to identify the intragenic microsatellite marker D16S298 to make the prenatal diagnosis of Batten disease on the basis of a chorionic villus sample. The Finnish woman sought counseling because of a son with Batten disease. Allele 6 at the D16S298 marker is present in 96% of Finnish Batten disease patients. Both the fetus and the affected son carried the same high-risk genotype, 6/6, and both were homozygous for the 1-kb deletion. The pregnancy was terminated, and the diagnosis was confirmed by electron microscopy of fetal cells. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>To study the efficacy of dopaminergic medication for extrapyramidal symptoms in juvenile-onset CLN3, Aberg et al. (2001) treated 10 patients with levodopa and 6 patients with selegiline and found a favorable response to levodopa, as measured by scoring on the motor part of the Unified Parkinson Disease Rating Scale. Six of 10 patients treated with levodopa showed decreased symptoms at 1 year, and 4 showed increased symptoms, although 3 of these showed decreased symptoms at 6 months. Patients treated with selegiline and those untreated showed no significant difference at 1 year. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Eiberg et al. (1989) found linkage between haptoglobin (HP; 140100) and Batten disease on chromosome 16q22 (maximum lod score of 3.00). Gardiner et al. (1990) confirmed the mapping of Batten disease to chromosome 16 (maximum lod score of 6.05 at marker D16S148). </p><p>By linkage studies in a larger group of families, Callen et al. (1991) concluded that the most likely location for CLN3 is the interval between D16S67 and D16S148. Physical mapping of these markers by mouse/human hybrid cell analysis and fluorescence in situ hybridization positioned them at 16p12.3-p12.1 and 16p12.1-p11.2, respectively. Callen et al. (1991) concluded that CLN3 is in a 2-cM interval on 16p12. Mitchison et al. (1993) reported the findings in 70 CLN3 families. Crossovers in 3 maternal meioses allowed localization of CLN3 to the interval between D16S297 and D16S57. Haplotype analysis suggested that most CLN3 chromosomes arose from a single founder mutation. </p><p>Using highly informative dinucleotide repeat markers, Lerner et al. (1994) refined the localization of CLN3 to 16p12.1. They found that one haplotype, D16S298/D16S299, was highly overrepresented, accounting for 54% of CLN3 chromosomes as compared with 8% of control chromosomes. They conclusively excluded the CLN2 (204500) locus from this region. </p><p>By haplotype and linkage disequilibrium mapping in 111 affected families, including 27 Finnish families, Mitchison et al. (1995) predicted that the CLN3 gene lies 8.8 kb (range 6.3 to 13.8 kb) from D16S298 and 165.4 kb (range 132.4 to 218.1 kb) from D16S299. Enrichment of certain alleles indicated that the same major mutation is responsible for Batten disease in Finland as in most other European countries. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The International Batten Disease Consortium (1995) demonstrated that the mutation responsible for 73% of Batten disease chromosomes was a 1.02-kb deletion in the CLN3 gene (607042.0001). In Finland, 90% of patients with Batten disease carry the 1.02-kb deletion (Jarvela et al., 1996). </p><p>In a Moroccan child with Batten disease, Taschner et al. (1995) found homozygosity for a small deletion in the CLN3 gene (607042.0003). </p><p>Munroe et al. (1997) identified homozygosity for the common 1.02-kb CLN3 deletion in 139 (74%) of 188 unrelated patients with Batten disease; 41 were compound heterozygous for the deletion and another CLN3 mutation. By SSCP analysis and direct sequencing, Munroe et al. (1997) found 19 novel mutations in the CLN3 gene, bringing the total number of known disease-associated mutations in CLN3 to 23. </p><p>Mole et al. (1999) tabulated the mutations that had been identified in the various CLNs; they reported 25 mutations and 2 polymorphisms associated with CLN3. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Kitzmuller et al. (2008) demonstrated that the common 1.02-kb deletion retains residual function. Overexpression of the mutant CLN3 transcripts consistently caused lysosomes to decrease in size. Studies in mouse cell models and yeast confirmed that the corresponding mutant transcripts retained significant function. The majority of the mutant 1.02-kb deletion CLN3 protein was retained within the endoplasmic reticulum. Kitzmuller et al. (2008) concluded that the common mutant CLN3 protein retains significant function and that JNCL is a mutation-specific disease phenotype. The residual function likely explains why this form of CLN shows later onset and less severe clinical manifestations compared to other forms of CLN. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In West Germany, Claussen et al. (1992) estimated the frequency of juvenile-onset CLN3 to be 0.71 per 100,000 live births and of CLN2 to be 0.46 per 100,000 live births. The estimates were based on a novel method applicable to other autosomal recessive disorders. For 10 years, 1968 through 1977, the slope of registration of new cases was a steep, nearly straight line. The authors presumed that this represented a period of efficient registration of new cases. </p><p>CLN3 is especially enriched in Finland with an incidence of 1:21,000 live births and a carrier frequency of 1 in 70 (Mitchison et al., 1995). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Tuck-Muller et al. (1995) observed a balanced translocation between chromosomes 10 and 18, t(10;18)(q22.1;q21.1), in a girl with typical Batten disease beginning at 5 years of age. The intracellular cytosomes were predominantly fingerprint in type. Translocation was not observed in the patient's mother or sister. The father was unavailable for analysis. Although Tuck-Muller et al. (1995) stated that the translocation may be unrelated to the disease, the findings raised the possibility of genetic heterogeneity in this form of CLN. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>A model of Batten disease in sheep was discussed by Jolly et al. (1992) and a model in the dog by Koppang (1992) and Taylor and Farrow (1992). </p><p>A yeast model for the study of Batten disease was created by Pearce and Sherman (1998). They had previously cloned the Saccharomyces cerevisiae homolog of the CLN3 gene, designated BTN1. The amino acid structure of the yeast and human proteins had been shown to be 39% identical and 59% similar. They reported that BTN1-delta deletion yeast strains were more resistant to a chemical denoted ANP, a phenotype that could be complemented in yeast by the human CLN3 gene. Furthermore, the severity of Batten disease in humans and the degree of ANP resistance in yeast were related when the equivalent amino acid replacements in the CLN3 and the BTN1 proteins were compared. These results indicated that yeast can be used as a model for the study of Batten disease. </p><p>Chattopadhyay et al. (2002) reported neutralizing autoantibodies to glutamic acid decarboxylase (GAD2; 138275) in Cln3-knockout mice serum that associates with brain tissue but is not present in sera or brain of normal mice. A concomitant elevation of glutamate in the brain of Cln3-knockout mice colocalized with presynaptic markers. An autoantibody to GAD2 was present in sera of all 20 individuals tested with Batten disease, and postmortem brain tissue from 1 patient showed decreased reactivity to an anti-GAD antibody. The authors proposed that an autoimmune response to GAD2 may contribute to a preferential loss of GABAergic neurons associated with Batten disease. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Gadoth (1978); Gordon et al. (1972); Harlem (1960); Hittner and
Zeller (1975); Kimura and Goebel (1987); Lake and Cavanagh (1978);
Levenson et al. (1964); Rayner (1962); Riis et al. (1992);
Seitelberger et al. (1967); Sjogren (1931); Smith (1974); Zeman and
Strouth (1967)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
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<p class="mim-text-font">
Aberg, L. E., Rinne, J. O., Rajantie, I., Santavuori, P.
<strong>A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis.</strong>
Neurology 56: 1236-1239, 2001.
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[Full Text: https://doi.org/10.1212/wnl.56.9.1236]
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<p class="mim-text-font">
Armstrong, D., Dimmitt, S., VanWormer, D. E.
<strong>Studies in Batten disease.</strong>
Arch. Neurol. 30: 144-152, 1974.
[PubMed: 4810892]
[Full Text: https://doi.org/10.1001/archneur.1974.00490320032004]
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Batten, F. E.
<strong>Cerebral degeneration with symmetrical changes in the maculae in two members of a family.</strong>
Trans. Ophthal. Soc. U.K. 23: 386-390, 1903.
</p>
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<li>
<p class="mim-text-font">
Batten, F. E.
<strong>Family cerebral degeneration with macular change (so-called juvenile form of family amaurotic idiocy).</strong>
Quart. J. Med. 7: 444-453, 1914.
</p>
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<p class="mim-text-font">
Baumann, R. J., Markesbery, W. R.
<strong>Juvenile amaurotic idiocy (neuronal ceroid lipofuscinosis) and lymphocyte fingerprint profiles.</strong>
Ann. Neurol. 4: 531-536, 1978.
[PubMed: 217298]
[Full Text: https://doi.org/10.1002/ana.410040609]
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<p class="mim-text-font">
Bessman, S. P., Baldwin, R.
<strong>Imidazole aminoaciduria in cerebromacular degeneration.</strong>
Science 135: 789-791, 1962.
[PubMed: 13868567]
[Full Text: https://doi.org/10.1126/science.135.3506.789]
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<p class="mim-text-font">
Boustany, R.-M.
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[Full Text: https://doi.org/10.1001/archopht.1987.01060100090034]
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<p class="mim-text-font">
Burrig, K.-F., Schwendemann, G., Lohler, J.
<strong>Lack of structural abnormalities in lymphocytes from heterozygotes of juvenile type of generalized ceroid-lipofuscinosis: a light and electron microscopic study.</strong>
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[PubMed: 6296714]
[Full Text: https://doi.org/10.1055/s-2008-1059626]
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<p class="mim-text-font">
Callen, D. F., Baker, E., Lane, S., Nancarrow, J., Thompson, A., Whitmore, S. A., MacLennan, D. H., Berger, R., Cherif, D., Jarvela, I., Peltonen, L., Sutherland, G. R., Gardiner, R. M.
<strong>Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.</strong>
Am. J. Hum. Genet. 49: 1372-1377, 1991.
[PubMed: 1746562]
</p>
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<li>
<p class="mim-text-font">
Chattopadhyay, S., Ito, M., Cooper, J. D., Brooks, A. I., Curran, T. M., Powers, J. M., Pearce, D. A.
<strong>An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease.</strong>
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[PubMed: 12023984]
[Full Text: https://doi.org/10.1093/hmg/11.12.1421]
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<p class="mim-text-font">
Claussen, M., Heim, P., Knispel, J., Goebel, H. H., Kohlschutter, A.
<strong>Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders.</strong>
Am. J. Med. Genet. 42: 536-538, 1992.
[PubMed: 1609834]
[Full Text: https://doi.org/10.1002/ajmg.1320420422]
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<p class="mim-text-font">
Cortese, A., Tucci, A., Piccolo, G., Galimberti, C. A., Fratta, P., Marchioni, E., Grampa, G., Cereda, C., Grieco, G., Ricca, I., Pittman, A., Ciscato, P., and 9 others.
<strong>Novel CLN3 mutation causing autophagic vacuolar myopathy.</strong>
Neurology 82: 2072-2076, 2014.
[PubMed: 24827497]
[Full Text: https://doi.org/10.1212/WNL.0000000000000490]
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<p class="mim-text-font">
Danes, B. S., Bearn, A. G.
<strong>Metachromasia and skin-fibroblast cultures in juvenile familial amaurotic idiocy.</strong>
Lancet 292: 855-856, 1968. Note: Originally Volume 2.
[PubMed: 4175745]
[Full Text: https://doi.org/10.1016/s0140-6736(68)91005-2]
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<p class="mim-text-font">
Dawson, G., Dawson, S. A., Siakotos, A. N.
<strong>Phospholipases and the molecular basis for the formation of ceroid in Batten disease.</strong>
Adv. Exp. Med. Biol. 266: 259-270, 1989.
[PubMed: 2486153]
[Full Text: https://doi.org/10.1007/978-1-4899-5339-1_18]
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Dayan, A. D., Trickey, R. J.
<strong>Thyroid involvement in juvenile amaurotic idiocy (Batten&#x27;s disease).</strong>
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[PubMed: 4194367]
[Full Text: https://doi.org/10.1016/s0140-6736(70)91335-8]
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<p class="mim-text-font">
Eiberg, H., Gardiner, R. M., Mohr, J.
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[PubMed: 2805379]
[Full Text: https://doi.org/10.1111/j.1399-0004.1989.tb03193.x]
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Farrell, D. F., Sumi, S. M.
<strong>Skin punch biopsy in the diagnosis of juvenile neuronal ceroid-lipofuscinosis: a comparison with leukocyte peroxidase assay.</strong>
Arch. Neurol. 34: 39-44, 1977.
[PubMed: 188403]
[Full Text: https://doi.org/10.1001/archneur.1977.00500130059012]
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Gadoth, N.
<strong>Neuronal ceroid-lipofuscinosis (Batten&#x27;s disease): diagnostic approach and results of therapeutic trial.</strong>
Metab. Ophthal. 2: 193-196, 1978.
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Gardiner, M., Sandford, A., Deadman, M., Poulton, J., Cookson, W., Reeders, S., Jokiaho, I., Peltonen, L., Eiberg, H., Julier, C.
<strong>Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.</strong>
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[PubMed: 2249854]
[Full Text: https://doi.org/10.1016/0888-7543(90)90297-8]
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<p class="mim-text-font">
Gonatas, N. K., Terry, R. D., Winkler, R., Korey, S. R., Gomez, C. J., Stein, A.
<strong>A case of juvenile lipidosis: the significance of electron microscopic and biochemical observations of a cerebral biopsy.</strong>
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Gordon, N. S., Marsden, H. B., Noronha, M. J.
<strong>Neuronal ceroid lipofuscinosis (Batten&#x27;s disease).</strong>
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</p>
</li>
<li>
<p class="mim-text-font">
Harlem, O. K.
<strong>Juvenile cerebroretinal degeneration (Spielmeyer-Vogt).</strong>
Am. J. Dis. Child. 100: 918-923, 1960.
[PubMed: 13711599]
</p>
</li>
<li>
<p class="mim-text-font">
Hittner, H. M., Zeller, R. S.
<strong>Ceroid-lipofuscinosis (Batten disease): fluorescein angiography, electrophysiology, histopathology, ultrastructure, and a review of amaurotic familial idiocy.</strong>
Arch. Ophthal. 93: 178-183, 1975.
[PubMed: 1138683]
[Full Text: https://doi.org/10.1001/archopht.1975.01010020186003]
</p>
</li>
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<p class="mim-text-font">
International Batten Disease Consortium.
<strong>Isolation of a novel gene underlying Batten disease, CLN3.</strong>
Cell 82: 949-957, 1995.
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[Full Text: https://doi.org/10.1016/0092-8674(95)90274-0]
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Jarvela, I., Mitchison, H. M., Munroe, P. B., O'Rawe, A. M., Mole, S. E., Syvanen, A.-C.
<strong>Rapid diagnostic test for the major mutation underlying Batten disease.</strong>
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[PubMed: 9004140]
[Full Text: https://doi.org/10.1136/jmg.33.12.1041]
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Jolly, R. D., Martinus, R. D., Palmer, D. N.
<strong>Sheep and other animals with ceroid-lipofuscinoses: their relevance to Batten disease.</strong>
Am. J. Med. Genet. 42: 609-614, 1992.
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Kimura, S., Goebel, H. H.
<strong>Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis.</strong>
Brain Dev. 9: 576-580, 1987.
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[Full Text: https://doi.org/10.1016/s0387-7604(87)80088-8]
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</li>
<li>
<p class="mim-text-font">
Kimura, S., Goebel, H. H.
<strong>Light and electron microscopic study of juvenile neuronal ceroid-lipofuscinosis lymphocytes.</strong>
Pediat. Neurol. 4: 148-152, 1988.
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[Full Text: https://doi.org/10.1016/0887-8994(88)90002-1]
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<li>
<p class="mim-text-font">
Kitzmuller, C., Haines, R. L., Codlin, S., Cutler, D. F., Mole, S. E.
<strong>A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.</strong>
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[Full Text: https://doi.org/10.1093/hmg/ddm306]
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Kominami, E., Ezaki, J., Wolfe, L. S.
<strong>New insight into lysosomal protein storage disease: delayed catabolism of ATP synthase subunit c in Batten disease.</strong>
Neurochem. Res. 20: 1305-1309, 1995.
[PubMed: 8786816]
[Full Text: https://doi.org/10.1007/BF00992505]
</p>
</li>
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<p class="mim-text-font">
Koppang, N.
<strong>English setter model and juvenile ceroid-lipofuscinosis in man.</strong>
Am. J. Med. Genet. 42: 599-604, 1992.
[PubMed: 1609842]
[Full Text: https://doi.org/10.1002/ajmg.1320420434]
</p>
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LaBadie, G. U., Pullarkat, R. K.
<strong>Low molecular weight urinary peptides in ceroid-lipofuscinoses: potential biochemical markers for the juvenile subtype.</strong>
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[Full Text: https://doi.org/10.1002/ajmg.1320370434]
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Lake, B. D., Cavanagh, N. P. C.
<strong>Early-juvenile Batten&#x27;s disease--a recognisable sub-group distinct from other forms of Batten&#x27;s disease: analysis of 5 patients.</strong>
J. Neurol. Sci. 36: 265-271, 1978.
[PubMed: 650259]
[Full Text: https://doi.org/10.1016/0022-510x(78)90087-4]
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Lerner, T. J., Boustany, R.-M. N., MacCormack, K., Gleitsman, J., Schlumpf, K., Breakefield, X. O., Gusella, J. F., Haines, J. L.
<strong>Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p12.1.</strong>
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Levenson, J., Lindahl-Kiessling, K., Rayner, S.
<strong>Carnosine excretion in juvenile amaurotic idiocy.</strong>
Lancet 284: 756-757, 1964. Note: Originally Volume 2.
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[Full Text: https://doi.org/10.1016/s0140-6736(64)92581-4]
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Marshall, F. J., de Blieck, E. A., Mink, J. W., Dure, L., Adams, H., Messing, S., Rothberg, P. G., Levy, E., McDonough, T., DeYoung, J., Wang, M., Ramirez-Montealegre, D., Kwon, J. M., Pearce, D. A.
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[Full Text: https://doi.org/10.1212/01.wnl.0000169019.41332.8a]
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McKusick, V. A.
<strong>Medical genetics 1962.</strong>
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[Full Text: https://doi.org/10.1016/0021-9681(63)90148-6]
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Mitchison, H. M., O'Rawe, A. M., Taschner, P. E. M., Sandkuijl, L. A., Santavuori, P., de Vos, N., Breuning, M. H., Mole, S. E., Gardiner, R. M., Jarvela, I. E.
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Mitchison, H. M., Thompson, A. D., Mulley, J. C., Kozman, H. M., Richards, R. I., Callen, D. F., Stallings, R. L., Doggett, N. A., Attwood, J., McKay, T. R., Sutherland, G. R., Gardiner, R. M.
<strong>Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.</strong>
Genomics 16: 455-460, 1993.
[PubMed: 8314582]
[Full Text: https://doi.org/10.1006/geno.1993.1210]
</p>
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<li>
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Mole, S. E., Mitchison, H. M., Munroe, P. B.
<strong>Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.</strong>
Hum. Mutat. 14: 199-215, 1999.
[PubMed: 10477428]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)14:3&lt;199::AID-HUMU3&gt;3.0.CO;2-A]
</p>
</li>
<li>
<p class="mim-text-font">
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: 15965709]
[Full Text: https://doi.org/10.1007/s10048-005-0218-3]
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<p class="mim-text-font">
Munroe, P. B., Mitchison, H. M., O'Rawe, A. M., Anderson, J. W., Boustany, R.-M., Lerner, T. J., Taschner, P. E. M., de Vos, N., Breuning, M. H., Gardiner, R. M., Mole, S. E.
<strong>Spectrum of mutations in the Batten disease gene, CLN3.</strong>
Am. J. Hum. Genet. 61: 310-316, 1997.
[PubMed: 9311735]
[Full Text: https://doi.org/10.1086/514846]
</p>
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Munroe, P. B., Rapola, J., Mitchison, H. M., Mustonen, A., Mole, S. E., Gardiner, R. M., Jarvela, I.
<strong>Prenatal diagnosis of Batten&#x27;s disease.</strong>
Lancet 347: 1014-1015, 1996.
[PubMed: 8606564]
[Full Text: https://doi.org/10.1016/s0140-6736(96)90148-8]
</p>
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Nielsen, A. K., Drack, A. V., Ostergaard, J. R.
<strong>Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (Batten disease).</strong>
Ophthalmic Genet. 36: 39-42, 2015.
[PubMed: 25365415]
[Full Text: https://doi.org/10.3109/13816810.2014.977492]
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Pearce, D. A., Sherman, F.
<strong>A yeast model for the study of Batten disease.</strong>
Proc. Nat. Acad. Sci. 95: 6915-6918, 1998.
[PubMed: 9618513]
[Full Text: https://doi.org/10.1073/pnas.95.12.6915]
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</li>
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Ramirez-Montealegre, D., Pearce, D. A.
<strong>Defective lysosomal arginine transport in juvenile Batten disease.</strong>
Hum. Molec. Genet. 14: 3759-3773, 2005.
[PubMed: 16251196]
[Full Text: https://doi.org/10.1093/hmg/ddi406]
</p>
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<p class="mim-text-font">
Rayner, S.
<strong>Juvenile amaurotic idiocy in Sweden with particular reference to the occurrence of vacuoles in the lymphocytes of homo- and heterozygotes.</strong>
Uppsala: Univ. of Uppsala (pub.) 1962.
</p>
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<p class="mim-text-font">
Rayner, S.
<strong>Juvenile amaurotic idiocy in Sweden. (Abstract)</strong>
Proceedings of the 11th International Congress of Genetics, The Hague 1963. P. 283.
</p>
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<p class="mim-text-font">
Riis, R. C., Cummings, J. F., Loew, E. R., de Lahunta, A.
<strong>Tibetan terrier model of canine ceroid lipofuscinosis.</strong>
Am. J. Med. Genet. 42: 615-621, 1992.
[PubMed: 1609844]
[Full Text: https://doi.org/10.1002/ajmg.1320420437]
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Seitelberger, F., Jacob, H., Schnabel, R.
<strong>The myoclonic variant of cerebral lipidosis. In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism.</strong>
Oxford: Pergamon Press (pub.) 1967. Pp. 43-74.
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Sjogren, T.
<strong>Die juvenile amaurotische Idiotie. Klinische und erblichkeitsmedizinische Untersuchungen.</strong>
Hereditas 14: 197-426, 1931.
</p>
</li>
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Smith, H.
<strong>Sea-blue histiocytes in marrow in Batten-Spielmeyer-Vogt disease.</strong>
Pathology 6: 323-327, 1974.
[PubMed: 4141494]
[Full Text: https://doi.org/10.3109/00313027409077342]
</p>
</li>
<li>
<p class="mim-text-font">
Spalton, D. J., Taylor, D. S. I., Sanders, M. D.
<strong>Juvenile Batten&#x27;s disease: an ophthalmological assessment of 26 patients.</strong>
Brit. J. Ophthal. 64: 726-732, 1980.
[PubMed: 7426545]
[Full Text: https://doi.org/10.1136/bjo.64.10.726]
</p>
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Strouth, J. C., Zeman, W., Merritt, A. D.
<strong>Leukocyte abnormalities in familial amaurotic idiocy.</strong>
New Eng. J. Med. 274: 36-38, 1966.
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</p>
</li>
<li>
<p class="mim-text-font">
Taschner, P. E. M., de Vos, N., Breuning, M. H.
<strong>Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.</strong>
J. Med. Genet. 34: 955-956, 1997.
[PubMed: 9391897]
[Full Text: https://doi.org/10.1136/jmg.34.11.955]
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Taschner, P. E. M., de Vos, N., Thompson, A. D., Callen, D. F., Doggett, N., Mole, S. E., Dooley, T. P., Barth, P. G., Breuning, M. H.
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Am. J. Hum. Genet. 56: 663-668, 1995.
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Taylor, R. M., Farrow, B. R. H.
<strong>Ceroid lipofuscinosis in the border collie dog: retinal lesions in an animal model of juvenile Batten disease.</strong>
Am. J. Med. Genet. 42: 622-627, 1992.
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[Full Text: https://doi.org/10.1002/ajmg.1320420438]
</p>
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Tuck-Muller, C. M., Dyken, P. R., Li, S., Chen, H., Labbe, E., Wertelecki, W.
<strong>Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease).</strong>
Am. J. Med. Genet. 57: 168-171, 1995.
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Wisniewski, K. E., Kida, E., Patxot, O. F., Connell, F.
<strong>Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations.</strong>
Am. J. Med. Genet. 42: 525-532, 1992.
[PubMed: 1319116]
[Full Text: https://doi.org/10.1002/ajmg.1320420420]
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Wisniewski, K. E., Zhong, N., Kaczmarski, W., Kaczmarski, A., Kida, E., Brown, W. T., Schwarz, K. O., Lazzarini, A. M., Rubin, A. J., Stenroos, E. S., Johnson, W. G., Wisniewski, T. M.
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Zeman, W., Donahue, S.
<strong>Fine structure of the lipid bodies in juvenile amaurotic idiocy.</strong>
Acta Neuropath. 3: 144-149, 1963.
[PubMed: 14196530]
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<li>
<p class="mim-text-font">
Zeman, W., Strouth, J. C.
<strong>Leukocytic hypergranulation versus lymphocytic vacuolization as markers for heterozygotes and with Batten-Spielmeyer-Vogt disease. In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism.</strong>
Oxford: Pergamon Press (pub.) 1967. Pp. 475-484.
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