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Entry
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- #271900 - CANAVAN DISEASE
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- OMIM
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<span class="h4">#271900</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/271900"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CANAVAN DISEASE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
|
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Canavan disease </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21537&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Severe Canavan disease </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21538&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mild Canavan disease </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1234/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/1042" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/canavan-disease" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=271900[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>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Canavan disease</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Severe Canavan disease</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mild Canavan disease</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/46ad7624-01af-4ac5-a7da-30c7e2b09e38/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:3613" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/271900" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=001156,002325" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:271900" 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>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 80544005<br />
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<strong>ICD10CM:</strong> E75.28<br />
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<strong>ORPHA:</strong> 141, 314911, 314918<br />
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<strong>DO:</strong> 3613<br />
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|
">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>
|
|
271900
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</span>
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</span>
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</div>
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</div>
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<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CANAVAN DISEASE
|
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|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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|
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CANAVAN-VAN BOGAERT-BERTRAND DISEASE<br />
|
|
SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM<br />
|
|
ASPARTOACYLASE DEFICIENCY<br />
|
|
ASPA DEFICIENCY<br />
|
|
ASP DEFICIENCY<br />
|
|
AMINOACYLASE 2 DEFICIENCY<br />
|
|
ACY2 DEFICIENCY
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
|
<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/17/58?start=-3&limit=10&highlight=58">
|
|
17p13.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Canavan disease
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/271900"> 271900 </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">
|
|
ASPA
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608034"> 608034 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/271900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<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/271900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/271900" 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> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Increased head circumference <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4083076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4083076</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040194</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040194</a>]</span><br /> -
|
|
Delayed closure of anterior fontanel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/295091000119100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">295091000119100</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3840083&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3840083</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001476</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Blindness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a> 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> <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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Initial hypotonia, followed by spasticity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848986&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848986</a>]</span><br /> -
|
|
Generalized seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246545002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246545002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234533</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002197" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002197</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002197" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002197</a>]</span><br /> -
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Opisthotonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8652009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8652009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002179" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002179</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002179" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002179</a>]</span><br /> -
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Loss of very early milestones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848987&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848987</a>]</span><br /> -
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Demyelination with white matter disease in internal capsule, external capsule, genu of corpus callosum, subcortical white matter, and posterior fossa <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848989</a>]</span><br /> -
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Brain 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=C4551584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551584</a>, <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:0012444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012444</a>, <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:0012444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012444</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Spongy degeneration of brain on histology <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848991</a>]</span><br /> -
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Increased N-acetyl-L-aspartic acid (NAA) in urine, CSF, and blood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848992&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848992</a>]</span><br /> -
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Reduced aspartoacylase activity in cultured skin fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848993&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848993</a>]</span><br />
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- Normal first month<br /> -
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the aspartoacylase gene (ASPA, <a href="/entry/608034#0001">608034.0001</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Canavan disease is caused by homozygous or compound heterozygous mutation in the gene encoding aspartoacylase (ASPA; <a href="/entry/608034">608034</a>) on chromosome 17p13.</p>
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<div class="mim-changed mim-change"><p>Canavan disease is a severe progressive autosomal recessive neurodegenerative disorder characterized by vacuolar degeneration of the lower layers of the brain cortex and the subcortical white matter. Clinical signs usually begin during the first few months after birth, manifested by poor head control and marked developmental delay, and progress to macrocephaly, optic atrophy, seizures, and hypertonia, with death in early childhood. Although most patients with Canavan disease are of Ashkenazi Jewish ancestry, this disorder has also been found in many other ethnic groups (summary by <a href="#30" class="mim-tip-reference" title="Zeng, B. J., Wang, Z. H., Ribeiro, L. A., Leone, P., De Gasperi, R., Kim, S. J., Raghavan, S., Ong, E., Pastores, G. M., Kolodny, E. H. <strong>Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.</strong> J. Inherit. Metab. Dis. 25: 557-570, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12638939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12638939</a>] [<a href="https://doi.org/10.1023/a:1022091223498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12638939">Zeng et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12638939" 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></div>
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<p>The salient clinical features of Canavan disease are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average. The neurologic findings are due to demyelination and leukodystrophy. Neuropathologic changes include spongy degeneration and astrocytic swelling with normal neurons (<a href="#18" class="mim-tip-reference" title="Matalon, R., Michals, K., Sebesta, D., Deanching, M., Gashkoff, P., Casanova, J. <strong>Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.</strong> Am. J. Med. Genet. 29: 463-471, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3354621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3354621</a>] [<a href="https://doi.org/10.1002/ajmg.1320290234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3354621">Matalon et al., 1988</a> and <a href="#17" class="mim-tip-reference" title="Matalon, R., Kaul, R., Casanova, J., Michals, K., Johnson, A., Rapin, I., Gashkoff, P., Deanching, M. <strong>Aspartoacylase deficiency: the enzyme defect in Canavan disease.</strong> J. Inherit. Metab. Dis. 12 (suppl. 2): 329-331, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2512436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2512436</a>] [<a href="https://doi.org/10.1007/BF03335413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2512436">Matalon et al., 1989</a>). Morphologic abnormality of the mitochondria of astrocytes was emphasized by <a href="#1" class="mim-tip-reference" title="Adornato, B. T., O'Brien, J. S., Lampert, P. W., Roe, T. F., Neustein, H. B. <strong>Cerebral spongy degeneration of infancy: a biochemical and ultrastructural study of affected twins.</strong> Neurology 22: 202-210, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4333033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4333033</a>] [<a href="https://doi.org/10.1212/wnl.22.2.202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4333033">Adornato et al. (1972)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4333033+2512436+3354621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 patients from 2 families of Ashkenazi descent with the diagnosis of cerebral spongy degeneration, or Canavan disease, <a href="#18" class="mim-tip-reference" title="Matalon, R., Michals, K., Sebesta, D., Deanching, M., Gashkoff, P., Casanova, J. <strong>Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.</strong> Am. J. Med. Genet. 29: 463-471, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3354621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3354621</a>] [<a href="https://doi.org/10.1002/ajmg.1320290234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3354621">Matalon et al. (1988)</a> found increased amounts of N-acetylaspartic acid (NAA) in the urine and plasma. Aspartoacylase was assayed in cultured skin fibroblasts from 1 patient of each family, and a profound deficiency of the enzyme was found. Although the function of N-acetylaspartic acid was not understood, it was known to occur in high concentration in human brain. In an addendum, <a href="#18" class="mim-tip-reference" title="Matalon, R., Michals, K., Sebesta, D., Deanching, M., Gashkoff, P., Casanova, J. <strong>Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.</strong> Am. J. Med. Genet. 29: 463-471, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3354621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3354621</a>] [<a href="https://doi.org/10.1002/ajmg.1320290234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3354621">Matalon et al. (1988)</a> reported finding aspartoacylase deficiency in a case of Canavan disease in a third family from Australia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3354621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Matalon, R., Kaul, R., Casanova, J., Michals, K., Johnson, A., Rapin, I., Gashkoff, P., Deanching, M. <strong>Aspartoacylase deficiency: the enzyme defect in Canavan disease.</strong> J. Inherit. Metab. Dis. 12 (suppl. 2): 329-331, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2512436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2512436</a>] [<a href="https://doi.org/10.1007/BF03335413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2512436">Matalon et al. (1989)</a> reported studies of 21 patients with Canavan disease. The diagnosis of spongy degeneration was confirmed by brain biopsy in 14. All patients had excessive urinary NAA excretion almost 200 times the amounts found in normal age-matched individuals or obligate carriers. One sample of cerebrospinal fluid from a patient with Canavan disease contained 232 micromoles/liter of NAA, whereas in a control sample NAA was undetectable. Deficiency of aspartoacylase was found in all 21 patients. The levels of aspartoacylase in obligate carriers were less than 50% of control values. <a href="#17" class="mim-tip-reference" title="Matalon, R., Kaul, R., Casanova, J., Michals, K., Johnson, A., Rapin, I., Gashkoff, P., Deanching, M. <strong>Aspartoacylase deficiency: the enzyme defect in Canavan disease.</strong> J. Inherit. Metab. Dis. 12 (suppl. 2): 329-331, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2512436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2512436</a>] [<a href="https://doi.org/10.1007/BF03335413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2512436">Matalon et al. (1989)</a> also showed that NAA was not elevated in the urine in other forms of leukodystrophy such as Alexander disease (<a href="/entry/203450">203450</a>), in which megalencephaly similar to that in patients with Canavan disease occurs, metachromatic leukodystrophy (<a href="/entry/250100">250100</a>), Krabbe disease (<a href="/entry/245200">245200</a>), and adrenoleukodystrophy (<a href="/entry/300100">300100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2512436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Matalon, R., Kaul, R., Casanova, J., Michals, K., Johnson, A., Rapin, I., Gashkoff, P., Deanching, M. <strong>Aspartoacylase deficiency: the enzyme defect in Canavan disease.</strong> J. Inherit. Metab. Dis. 12 (suppl. 2): 329-331, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2512436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2512436</a>] [<a href="https://doi.org/10.1007/BF03335413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2512436">Matalon et al. (1989)</a> indicated that congenital, infantile, and late-onset forms of Canavan disease had been reported. Pathologic studies show spongy degeneration of the brain white matter, which is a nonspecific morphologic change and occurs in a number of situations. For example, spongy degeneration rather closely resembling that of Canavan disease was observed in a case of homocystinuria (<a href="/entry/236200">236200</a>) (<a href="#5" class="mim-tip-reference" title="Chou, S. M., Waisman, H. A. <strong>Spongy degeneration of the central nervous system: case of homocystinuria.</strong> Arch. Path. 79: 357-363, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14254905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14254905</a>]" pmid="14254905">Chou and Waisman, 1965</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14254905+2512436" 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="#7" class="mim-tip-reference" title="Feigelman, T., Shih, V. E., Buyse, M. L. <strong>Prolonged survival in Canavan disease.</strong> Dysmorph. Clin. Genet. 5: 107-110, 1991."None>Feigelman et al. (1991)</a> described prolonged survival in a 33-year-old Ashkenazi Jewish woman with Canavan disease. At the age of 2 years, mental retardation and extrapyramidal cerebral palsy had been diagnosed. At age 5 years, she was blind, but both pupils reacted to light, and she showed decerebrate posturing elicited by acute extension of the neck. Hyperreflexia with an extensor plantar response was observed. Generalized seizures first occurred at age 8 years. By age 20, she showed bilateral optic atrophy. By the time of report at age 33.5 years, she had deteriorated to a 'persistent vegetative state.' A younger sister was also mentally retarded with delayed development and died following aspiration at the age of 9 years.</p><p>In 2 sibs with Canavan disease from a consanguineous marriage, <a href="#11" class="mim-tip-reference" title="Ishiyama, G., Lopez, I., Baloh, R. W., Ishiyama, A. <strong>Canavan's leukodystrophy is associated with defects in cochlear neurodevelopment and deafness.</strong> Neurology 60: 1702-1704, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12771274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12771274</a>] [<a href="https://doi.org/10.1212/01.wnl.0000065893.60879.d3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12771274">Ishiyama et al. (2003)</a> examined the temporal bone and found bilateral absence of the organ of Corti as well as absence of supporting cells and hair cells. There was mild secondary atrophy of the spiral ganglia neurons, but the auditory nerves and vestibular end organs and nerves were normal. The authors suggested a role for ASPA in the neurodevelopment of the organ of Corti. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12771274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#14" class="mim-tip-reference" title="Kaul, R., Gao, G. P., Balamurugan, K., Matalon, R. <strong>Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.</strong> Nature Genet. 5: 118-123, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8252036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8252036</a>] [<a href="https://doi.org/10.1038/ng1093-118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8252036">Kaul et al. (1993)</a> stated that they had diagnosed 145 patients with Canavan disease at their center alone, suggesting that the disorder is more prevalent than previously thought. They noted that prenatal diagnosis by enzymatic activity is difficult because of the low or undetectable aspartoacylase activity in direct or cultured normal chorionic villi and in normal cultured amniocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8252036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of Canavan disease in the families reported by <a href="#14" class="mim-tip-reference" title="Kaul, R., Gao, G. P., Balamurugan, K., Matalon, R. <strong>Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.</strong> Nature Genet. 5: 118-123, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8252036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8252036</a>] [<a href="https://doi.org/10.1038/ng1093-118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8252036">Kaul et al. (1993)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8252036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 3 pedigrees with Canavan disease, <a href="#14" class="mim-tip-reference" title="Kaul, R., Gao, G. P., Balamurugan, K., Matalon, R. <strong>Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.</strong> Nature Genet. 5: 118-123, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8252036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8252036</a>] [<a href="https://doi.org/10.1038/ng1093-118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8252036">Kaul et al. (1993)</a> identified a homozygous point mutation in the ASPA gene (E285A; <a href="/entry/608034#0001">608034.0001</a>). The same mutation was found in 85% of 34 Canavan alleles tested from Ashkenazi Jewish patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8252036" 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 64 probands with Canavan disease, <a href="#13" class="mim-tip-reference" title="Kaul, R., Gao, G. P., Aloya, M., Balamurugan, K., Petrosky, A., Michals, K., Matalon, R. <strong>Canavan disease: mutations among Jewish and non-Jewish patients.</strong> Am. J. Hum. Genet. 55: 34-41, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8023850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8023850</a>]" pmid="8023850">Kaul et al. (1994)</a> identified several biallelic mutations in the ASPA gene (see, e.g., A305E, <a href="/entry/608034#0003">608034.0003</a> and Y231X, <a href="/entry/608034#0005">608034.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8023850" 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 19 non-Jewish patients with Canavan disease, <a href="#23" class="mim-tip-reference" title="Shaag, A., Anikster, Y., Christensen, E., Glustein, J. Z., Fois, A., Michelakakis, H., Nigro, F., Pronicka, E., Ribes, A., Zabot, M. T., Elpeleg, O. N. <strong>The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients.</strong> Am. J. Hum. Genet. 57: 572-580, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668285</a>]" pmid="7668285">Shaag et al. (1995)</a> identified 9 different mutations: 4 point mutations, 4 deletion mutations, and 1 exon skip. One mutation (A305E) accounted for 39.5% of the mutated alleles and was pan-European (i.e., identified in patients of Greek, Polish, Danish, French, Spanish, Italian, and British origin) and probably the most ancient mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668285" 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>As summarized by <a href="#24" class="mim-tip-reference" title="Sistermans, E. A., de Coo, R. F. M., van Beerendonk, H. M., Poll-The, B. T., Kleijer, W. J., van Oost, B. A. <strong>Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.</strong> Europ. J. Hum. Genet. 8: 557-560, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10909858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10909858</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200477" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10909858">Sistermans et al. (2000)</a>, 2 mutations account for about 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent: E285A and Y231X. In non-Jewish patients of European origin, the A305E mutation accounts for 50% of alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10909858" 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="#30" class="mim-tip-reference" title="Zeng, B. J., Wang, Z. H., Ribeiro, L. A., Leone, P., De Gasperi, R., Kim, S. J., Raghavan, S., Ong, E., Pastores, G. M., Kolodny, E. H. <strong>Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.</strong> J. Inherit. Metab. Dis. 25: 557-570, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12638939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12638939</a>] [<a href="https://doi.org/10.1023/a:1022091223498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12638939">Zeng et al. (2002)</a> studied the ASPA gene in 22 unrelated non-Jewish patients with Canavan disease and identified 24 different mutations, of which 14 were novel. The E24G gene mutation (<a href="/entry/608034#0010">608034.0010</a>) resulted in substitution of an invariable amino acid (glu) in the first esterase catalytic domain consensus sequence. Patients with the novel D249V mutation (<a href="/entry/608034#0011">608034.0011</a>) manifested clinically at birth and died early. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12638939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#12" class="mim-tip-reference" title="Janson, C. G., Kolodny, E. H., Zeng, B.-J., Raghavan, S., Pastores, G., Torres, P., Assadi, M., McPhee, S., Goldfarb, O., Saslow, B., Freese, A., Wang, D. J., Bilaniuk, L., Shera, D., Leone, P. <strong>Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.</strong> Ann. Neurol. 59: 428-431, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16437572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16437572</a>] [<a href="https://doi.org/10.1002/ana.20787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16437572">Janson et al. (2006)</a> reported 2 sisters with a mild form of Canavan disease confirmed by the finding of compound heterozygous mutations in the ASPA gene (A305E, <a href="/entry/608034#0003">608034.0003</a>; and R71H, <a href="/entry/608034#0012">608034.0012</a>). They presented at ages 50 and 19 months, respectively, with developmental delay, but without macrocephaly, hypotonia, spasticity, or seizures. The older child had mild cognitive and social impairment, whereas the infant showed age-appropriate language and behavior. In vitro studies showed severely deficient ASPA enzyme activity, but cerebral NAA levels in both patients were significantly less than expected for classic Canavan disease. <a href="#12" class="mim-tip-reference" title="Janson, C. G., Kolodny, E. H., Zeng, B.-J., Raghavan, S., Pastores, G., Torres, P., Assadi, M., McPhee, S., Goldfarb, O., Saslow, B., Freese, A., Wang, D. J., Bilaniuk, L., Shera, D., Leone, P. <strong>Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.</strong> Ann. Neurol. 59: 428-431, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16437572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16437572</a>] [<a href="https://doi.org/10.1002/ana.20787" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16437572">Janson et al. (2006)</a> noted that other patients had been reported with a milder, protracted course of Canavan disease (<a href="#25" class="mim-tip-reference" title="Toft, P. B., Geiss-Holtorff, R., Rolland, M. O., Pryds, O., Muller-Forell, W., Christensen, E., Lehnert, W., Lou, H. C., Ott, D., Hennig, J., Henriksen, O. <strong>Magnetic resonance imaging in juvenile Canavan disease.</strong> Europ. J. Pediat. 152: 750-753, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8223809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8223809</a>] [<a href="https://doi.org/10.1007/BF01953994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8223809">Toft et al., 1993</a>; <a href="#29" class="mim-tip-reference" title="Zafeiriou, D. I., Kleijer, W. J., Maroupoulos, G., Anastasiou, A. L., Augoustidou-Savvopoulou, P., Papadopoulou, F., Kontopoulos, E. E., Fagan, E., Payne, S. <strong>Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings.</strong> Brain Dev. 21: 205-208, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10372908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10372908</a>]" pmid="10372908">Zafeiriou et al., 1999</a>), which did not seem to correlate with enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8223809+16437572+10372908" 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="#28" class="mim-tip-reference" title="Velinov, M., Zellers, N., Styles, J., Wisniewski, K. <strong>Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. (Letter)</strong> Clin. Genet. 73: 288-289, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18070137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18070137</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00934.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18070137">Velinov et al. (2008)</a> reported a 28-month-old girl with a mild form of Canavan disease associated with homozygosity for the R71H mutation. The parents were not related and originated from Ecuador. The child showed mild motor and speech delay at age 9 months and developed symmetric hyperintensities in the basal ganglia at age 18 months. She walked at age 19 months and spoke about 20 words at 25 months. She did not have macrocephaly or seizures. NAA levels were about 15 times greater than normal, but lower than observed in classic cases of Canavan disease. <a href="#28" class="mim-tip-reference" title="Velinov, M., Zellers, N., Styles, J., Wisniewski, K. <strong>Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. (Letter)</strong> Clin. Genet. 73: 288-289, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18070137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18070137</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00934.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18070137">Velinov et al. (2008)</a> concluded that the R71H mutation is associated with a milder form of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18070137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the U.S., Canavan disease has been observed in infants of Jewish extraction whose ancestors lived in Vilna (<a href="#3" class="mim-tip-reference" title="Banker, B. Q., Robertson, J. T., Victor, M. <strong>Spongy degeneration of the central nervous system in infancy.</strong> Neurology 14: 981-1001, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14239091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14239091</a>] [<a href="https://doi.org/10.1212/wnl.14.11.981" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14239091">Banker et al., 1964</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14239091" 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="#19" class="mim-tip-reference" title="Matalon, R. <strong>Personal Communication.</strong> Miami, Fla. 11/3/1990."None>Matalon (1990)</a> stated that of the more than 70 patients he has studied biochemically, only about 5 are non-Jewish. The Jewish cases could be traced to a particular area of Eastern Europe. He had information on about 35 cases that had been identified in Saudi Arabia.</p><p>In an Iranian family with first-cousin parents, <a href="#16" class="mim-tip-reference" title="Mahloudji, M., Daneshbod, K., Karjoo, M. <strong>Familial spongy degeneration of the brain.</strong> Arch. Neurol. 22: 294-298, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5417637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5417637</a>] [<a href="https://doi.org/10.1001/archneur.1970.00480220008002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5417637">Mahloudji et al. (1970)</a> described 4 affected sibs out of 9. <a href="#21" class="mim-tip-reference" title="Ozand, P. T., Gascon, G. G., Dhalla, M. <strong>Aspartoacylase deficiency and Canavan disease in Saudi Arabia.</strong> Am. J. Med. Genet. 35: 266-268, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2309767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2309767</a>] [<a href="https://doi.org/10.1002/ajmg.1320350224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2309767">Ozand et al. (1990)</a> found deficient aspartoacylase activity in the fibroblasts cultured from 12 patients with Canavan disease in Saudi Arabia, where the disorder is apparently unusually frequent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2309767+5417637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Feigenbaum, A., Moore, R., Clarke, J., Hewson, S., Chitayat, D., Ray, P. N., Stockley, T. L. <strong>Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.</strong> Am. J. Med. Genet. 124A: 142-147, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14699612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14699612</a>] [<a href="https://doi.org/10.1002/ajmg.a.20334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14699612">Feigenbaum et al. (2004)</a> screened 1,423 Ashkenazi Jews in Toronto for the 3 most common mutations causing Canavan disease in that population (E285A, Y231X, and A305E) and found 25 carriers, yielding a carrier rate of 1:57. The authors noted that in all E285A carriers the 854C mutation was in disequilibrium with a T polymorphism at the site of the 693C-A mutation (Y231X), indicating a founder chromosome for the 854A-C mutation in the Ashkenazi Jewish population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14699612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Hagenfeldt, L., Bollgren, I., Venizelos, N. <strong>N-acetylaspartic aciduria due to aspartoacylase deficiency--a new etiology of childhood leukodystrophy.</strong> J. Inherit. Metab. Dis. 10: 135-141, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3116332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3116332</a>] [<a href="https://doi.org/10.1007/BF01800038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3116332">Hagenfeldt et al. (1987)</a> and <a href="#15" class="mim-tip-reference" title="Kvittingen, E. A., Guldal, G., Borsting, S., Skalpe, I. O., Stokke, O., Jellum, E. <strong>N-acetylaspartic aciduria in a child with a progressive cerebral atrophy.</strong> Clin. Chim. Acta 158: 217-227, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3769199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3769199</a>] [<a href="https://doi.org/10.1016/0009-8981(86)90285-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3769199">Kvittingen et al. (1986)</a> reported cases of N-acetylaspartic aciduria in patients with leukodystrophy and progressive cerebral atrophy, respectively. In the case of <a href="#15" class="mim-tip-reference" title="Kvittingen, E. A., Guldal, G., Borsting, S., Skalpe, I. O., Stokke, O., Jellum, E. <strong>N-acetylaspartic aciduria in a child with a progressive cerebral atrophy.</strong> Clin. Chim. Acta 158: 217-227, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3769199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3769199</a>] [<a href="https://doi.org/10.1016/0009-8981(86)90285-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3769199">Kvittingen et al. (1986)</a>, aspartoacylase activity was normal, whereas in the case of <a href="#9" class="mim-tip-reference" title="Hagenfeldt, L., Bollgren, I., Venizelos, N. <strong>N-acetylaspartic aciduria due to aspartoacylase deficiency--a new etiology of childhood leukodystrophy.</strong> J. Inherit. Metab. Dis. 10: 135-141, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3116332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3116332</a>] [<a href="https://doi.org/10.1007/BF01800038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3116332">Hagenfeldt et al. (1987)</a>, aspartoacylase activity was deficient. However, neither of these reports linked the findings to Canavan disease. <a href="#6" class="mim-tip-reference" title="Divry, P., Vianey-Liaud, C., Gay, C., Macabeo, V., Rapin, F., Echenne, B. <strong>N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leucodystrophy.</strong> J. Inherit. Metab. Dis. 11: 307-308, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3148075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3148075</a>] [<a href="https://doi.org/10.1007/BF01800378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3148075">Divry et al. (1988)</a> reported a brother and sister with N-acetylaspartic aciduria and a neurologic syndrome associated with macrocephaly and leukodystrophy. Enzyme data were not available. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3769199+3116332+3148075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Aduchi1967" class="mim-tip-reference" title="Aduchi, M., Aronson, S. M. <strong>Studies on spongy degeneration of the central nervous system (van Bogaert-Bertrand type). In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism.</strong> Oxford: Pergamon Press (pub.) 1967. Pp. 129-147.">Aduchi and Aronson (1967)</a>; <a href="#Banker1979" class="mim-tip-reference" title="Banker, B. Q., Victor, M. <strong>Spongy degeneration of infancy. In: Goodman, R. E.; Motulsky, A. G.: Genetic Diseases Among Ashkenazi Jews.</strong> New York: Raven Press (pub.) 1979. Pp. 201-216.">Banker and Victor (1979)</a>; <a href="#Hogan1965" class="mim-tip-reference" title="Hogan, G. R., Richardson, E. P., Jr. <strong>Spongy degeneration of the nervous system (Canavan's disease): report of a case in an Irish-American family.</strong> Pediatrics 35: 284-294, 1965.">Hogan and
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Richardson (1965)</a>; <a href="#Morcaldi1969" class="mim-tip-reference" title="Morcaldi, L., Salvati, G., Giordano, G. G., Guazzi, G. C. <strong>Congenital van Bogaert-Bertrand disease in a non-Jewish family.</strong> Acta Genet. Med. Gemellol. 18: 142-157, 1969.">Morcaldi et al. (1969)</a>; <a href="#Schmidt1978" class="mim-tip-reference" title="Schmidt, H., Rott, H.-D., Neuhauser, G., Neumann, W. <strong>Spongiose Hirndystrophie im fruhen Kindesalter (Typ Canavan-van Bogaert-Bertrand): Erkrankung von 3 Geschwistern einer nichtjudischen Familie aus Oberfranken.</strong> Klin. Padiatr. 190: 580-585, 1978.">Schmidt et al. (1978)</a>; <a href="#Ungar1983" class="mim-tip-reference" title="Ungar, M., Goodman, R. M. <strong>Spongy degeneration of the brain in Israel: a retrospective study.</strong> Clin. Genet. 23: 23-29, 1983.">Ungar and Goodman (1983)</a>; <a href="#van1963" class="mim-tip-reference" title="van Bogaert, L. <strong>Familial spongy degeneration of the brain. (Complementary study of the family R).</strong> Acta Psychiat. Neurol. Scand. 39: 107-113, 1963.">van Bogaert (1963)</a>; <a href="#ZuRhein1960" class="mim-tip-reference" title="ZuRhein, G. M., Eichman, P. L., Puletti, F. <strong>Familial idiocy with spongy degeneration of the central nervous system of van Bogaert-Bertrand type.</strong> Neurology 10: 998-1006, 1960.">ZuRhein et al. (1960)</a>
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Adornato, B. T., O'Brien, J. S., Lampert, P. W., Roe, T. F., Neustein, H. B.
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<strong>Cerebral spongy degeneration of infancy: a biochemical and ultrastructural study of affected twins.</strong>
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Neurology 22: 202-210, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4333033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4333033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4333033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Studies on spongy degeneration of the central nervous system (van Bogaert-Bertrand type). In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism.</strong>
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Oxford: Pergamon Press (pub.) 1967. Pp. 129-147.
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Banker, B. Q., Robertson, J. T., Victor, M.
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<strong>Spongy degeneration of the central nervous system in infancy.</strong>
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Neurology 14: 981-1001, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14239091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14239091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14239091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Spongy degeneration of infancy. In: Goodman, R. E.; Motulsky, A. G.: Genetic Diseases Among Ashkenazi Jews.</strong>
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New York: Raven Press (pub.) 1979. Pp. 201-216.
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<strong>Spongy degeneration of the central nervous system: case of homocystinuria.</strong>
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Arch. Path. 79: 357-363, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14254905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14254905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14254905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Divry, P., Vianey-Liaud, C., Gay, C., Macabeo, V., Rapin, F., Echenne, B.
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<strong>N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leucodystrophy.</strong>
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J. Inherit. Metab. Dis. 11: 307-308, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3148075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3148075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3148075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01800378" target="_blank">Full Text</a>]
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Feigelman, T., Shih, V. E., Buyse, M. L.
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<strong>Prolonged survival in Canavan disease.</strong>
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Dysmorph. Clin. Genet. 5: 107-110, 1991.
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Feigenbaum, A., Moore, R., Clarke, J., Hewson, S., Chitayat, D., Ray, P. N., Stockley, T. L.
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<strong>Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.</strong>
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Am. J. Med. Genet. 124A: 142-147, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14699612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14699612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14699612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20334" target="_blank">Full Text</a>]
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Hagenfeldt, L., Bollgren, I., Venizelos, N.
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<strong>N-acetylaspartic aciduria due to aspartoacylase deficiency--a new etiology of childhood leukodystrophy.</strong>
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J. Inherit. Metab. Dis. 10: 135-141, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3116332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3116332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3116332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01800038" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000065893.60879.d3" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.20787" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1093-118" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0009-8981(86)90285-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1970.00480220008002" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF03335413" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320290234" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320350224" target="_blank">Full Text</a>]
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<a id="Velinov2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Velinov, M., Zellers, N., Styles, J., Wisniewski, K.
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<strong>Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. (Letter)</strong>
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Clin. Genet. 73: 288-289, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18070137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18070137</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18070137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00934.x" target="_blank">Full Text</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="Zafeiriou1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zafeiriou, D. I., Kleijer, W. J., Maroupoulos, G., Anastasiou, A. L., Augoustidou-Savvopoulou, P., Papadopoulou, F., Kontopoulos, E. E., Fagan, E., Payne, S.
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<strong>Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings.</strong>
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Brain Dev. 21: 205-208, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10372908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10372908</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10372908" 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="30" class="mim-anchor"></a>
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<a id="Zeng2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zeng, B. J., Wang, Z. H., Ribeiro, L. A., Leone, P., De Gasperi, R., Kim, S. J., Raghavan, S., Ong, E., Pastores, G. M., Kolodny, E. H.
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<strong>Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.</strong>
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J. Inherit. Metab. Dis. 25: 557-570, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12638939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12638939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12638939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1023/a:1022091223498" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="ZuRhein1960" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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ZuRhein, G. M., Eichman, P. L., Puletti, F.
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<strong>Familial idiocy with spongy degeneration of the central nervous system of van Bogaert-Bertrand type.</strong>
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Neurology 10: 998-1006, 1960.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13788842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13788842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13788842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.10.11.998" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/6/2008
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<div class="row collapse" id="mimCollapseContributors">
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Cassandra L. Kniffin - updated : 4/13/2006<br>Marla J. F. O'Neill - updated : 6/23/2004<br>Ada Hamosh - updated : 9/23/2003<br>Cassandra L. Kniffin - reorganized : 8/15/2003<br>Cassandra L. Kniffin - updated : 8/13/2003<br>Victor A. McKusick - updated : 3/15/2001<br>Victor A. McKusick - updated : 12/6/1999<br>Victor A. McKusick - updated : 3/17/1999<br>Victor A. McKusick - updated : 3/13/1998
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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alopez : 01/16/2025
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carol : 04/04/2024<br>carol : 01/09/2018<br>carol : 01/08/2018<br>alopez : 10/25/2012<br>wwang : 5/13/2008<br>ckniffin : 5/6/2008<br>terry : 8/24/2006<br>wwang : 5/4/2006<br>wwang : 4/19/2006<br>wwang : 4/19/2006<br>wwang : 4/18/2006<br>ckniffin : 4/13/2006<br>carol : 6/30/2004<br>terry : 6/23/2004<br>alopez : 9/23/2003<br>carol : 8/15/2003<br>carol : 8/15/2003<br>ckniffin : 8/13/2003<br>mcapotos : 3/27/2001<br>mcapotos : 3/22/2001<br>terry : 3/15/2001<br>carol : 12/8/1999<br>carol : 12/8/1999<br>terry : 12/6/1999<br>carol : 3/30/1999<br>terry : 3/17/1999<br>dkim : 7/17/1998<br>alopez : 3/13/1998<br>terry : 3/10/1998<br>terry : 3/10/1998<br>mark : 9/10/1995<br>terry : 4/19/1995<br>carol : 9/1/1994<br>jason : 6/9/1994<br>mimadm : 3/12/1994<br>carol : 12/16/1993
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<span class="mim-font">
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<strong>#</strong> 271900
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<h3>
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<span class="mim-font">
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CANAVAN DISEASE
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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CANAVAN-VAN BOGAERT-BERTRAND DISEASE<br />
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SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM<br />
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ASPARTOACYLASE DEFICIENCY<br />
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ASPA DEFICIENCY<br />
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ASP DEFICIENCY<br />
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AMINOACYLASE 2 DEFICIENCY<br />
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ACY2 DEFICIENCY
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<strong>SNOMEDCT:</strong> 80544005;
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<strong>ICD10CM:</strong> E75.28;
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<strong>ORPHA:</strong> 141, 314911, 314918;
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<strong>DO:</strong> 3613;
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<span class="mim-font">
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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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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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17p13.2
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<span class="mim-font">
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Canavan disease
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<span class="mim-font">
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271900
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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ASPA
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<span class="mim-font">
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608034
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Canavan disease is caused by homozygous or compound heterozygous mutation in the gene encoding aspartoacylase (ASPA; 608034) on chromosome 17p13.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Canavan disease is a severe progressive autosomal recessive neurodegenerative disorder characterized by vacuolar degeneration of the lower layers of the brain cortex and the subcortical white matter. Clinical signs usually begin during the first few months after birth, manifested by poor head control and marked developmental delay, and progress to macrocephaly, optic atrophy, seizures, and hypertonia, with death in early childhood. Although most patients with Canavan disease are of Ashkenazi Jewish ancestry, this disorder has also been found in many other ethnic groups (summary by Zeng et al., 2002). </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>The salient clinical features of Canavan disease are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average. The neurologic findings are due to demyelination and leukodystrophy. Neuropathologic changes include spongy degeneration and astrocytic swelling with normal neurons (Matalon et al., 1988 and Matalon et al., 1989). Morphologic abnormality of the mitochondria of astrocytes was emphasized by Adornato et al. (1972). </p><p>In 3 patients from 2 families of Ashkenazi descent with the diagnosis of cerebral spongy degeneration, or Canavan disease, Matalon et al. (1988) found increased amounts of N-acetylaspartic acid (NAA) in the urine and plasma. Aspartoacylase was assayed in cultured skin fibroblasts from 1 patient of each family, and a profound deficiency of the enzyme was found. Although the function of N-acetylaspartic acid was not understood, it was known to occur in high concentration in human brain. In an addendum, Matalon et al. (1988) reported finding aspartoacylase deficiency in a case of Canavan disease in a third family from Australia. </p><p>Matalon et al. (1989) reported studies of 21 patients with Canavan disease. The diagnosis of spongy degeneration was confirmed by brain biopsy in 14. All patients had excessive urinary NAA excretion almost 200 times the amounts found in normal age-matched individuals or obligate carriers. One sample of cerebrospinal fluid from a patient with Canavan disease contained 232 micromoles/liter of NAA, whereas in a control sample NAA was undetectable. Deficiency of aspartoacylase was found in all 21 patients. The levels of aspartoacylase in obligate carriers were less than 50% of control values. Matalon et al. (1989) also showed that NAA was not elevated in the urine in other forms of leukodystrophy such as Alexander disease (203450), in which megalencephaly similar to that in patients with Canavan disease occurs, metachromatic leukodystrophy (250100), Krabbe disease (245200), and adrenoleukodystrophy (300100). </p><p>Matalon et al. (1989) indicated that congenital, infantile, and late-onset forms of Canavan disease had been reported. Pathologic studies show spongy degeneration of the brain white matter, which is a nonspecific morphologic change and occurs in a number of situations. For example, spongy degeneration rather closely resembling that of Canavan disease was observed in a case of homocystinuria (236200) (Chou and Waisman, 1965). </p><p>Feigelman et al. (1991) described prolonged survival in a 33-year-old Ashkenazi Jewish woman with Canavan disease. At the age of 2 years, mental retardation and extrapyramidal cerebral palsy had been diagnosed. At age 5 years, she was blind, but both pupils reacted to light, and she showed decerebrate posturing elicited by acute extension of the neck. Hyperreflexia with an extensor plantar response was observed. Generalized seizures first occurred at age 8 years. By age 20, she showed bilateral optic atrophy. By the time of report at age 33.5 years, she had deteriorated to a 'persistent vegetative state.' A younger sister was also mentally retarded with delayed development and died following aspiration at the age of 9 years.</p><p>In 2 sibs with Canavan disease from a consanguineous marriage, Ishiyama et al. (2003) examined the temporal bone and found bilateral absence of the organ of Corti as well as absence of supporting cells and hair cells. There was mild secondary atrophy of the spiral ganglia neurons, but the auditory nerves and vestibular end organs and nerves were normal. The authors suggested a role for ASPA in the neurodevelopment of the organ of Corti. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kaul et al. (1993) stated that they had diagnosed 145 patients with Canavan disease at their center alone, suggesting that the disorder is more prevalent than previously thought. They noted that prenatal diagnosis by enzymatic activity is difficult because of the low or undetectable aspartoacylase activity in direct or cultured normal chorionic villi and in normal cultured amniocytes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of Canavan disease in the families reported by Kaul et al. (1993) was consistent with autosomal recessive inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>In affected members of 3 pedigrees with Canavan disease, Kaul et al. (1993) identified a homozygous point mutation in the ASPA gene (E285A; 608034.0001). The same mutation was found in 85% of 34 Canavan alleles tested from Ashkenazi Jewish patients. </p><p>In 64 probands with Canavan disease, Kaul et al. (1994) identified several biallelic mutations in the ASPA gene (see, e.g., A305E, 608034.0003 and Y231X, 608034.0005). </p><p>In 19 non-Jewish patients with Canavan disease, Shaag et al. (1995) identified 9 different mutations: 4 point mutations, 4 deletion mutations, and 1 exon skip. One mutation (A305E) accounted for 39.5% of the mutated alleles and was pan-European (i.e., identified in patients of Greek, Polish, Danish, French, Spanish, Italian, and British origin) and probably the most ancient mutation. </p><p>As summarized by Sistermans et al. (2000), 2 mutations account for about 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent: E285A and Y231X. In non-Jewish patients of European origin, the A305E mutation accounts for 50% of alleles. </p><p>Zeng et al. (2002) studied the ASPA gene in 22 unrelated non-Jewish patients with Canavan disease and identified 24 different mutations, of which 14 were novel. The E24G gene mutation (608034.0010) resulted in substitution of an invariable amino acid (glu) in the first esterase catalytic domain consensus sequence. Patients with the novel D249V mutation (608034.0011) manifested clinically at birth and died early. </p>
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</span>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Janson et al. (2006) reported 2 sisters with a mild form of Canavan disease confirmed by the finding of compound heterozygous mutations in the ASPA gene (A305E, 608034.0003; and R71H, 608034.0012). They presented at ages 50 and 19 months, respectively, with developmental delay, but without macrocephaly, hypotonia, spasticity, or seizures. The older child had mild cognitive and social impairment, whereas the infant showed age-appropriate language and behavior. In vitro studies showed severely deficient ASPA enzyme activity, but cerebral NAA levels in both patients were significantly less than expected for classic Canavan disease. Janson et al. (2006) noted that other patients had been reported with a milder, protracted course of Canavan disease (Toft et al., 1993; Zafeiriou et al., 1999), which did not seem to correlate with enzyme activity. </p><p>Velinov et al. (2008) reported a 28-month-old girl with a mild form of Canavan disease associated with homozygosity for the R71H mutation. The parents were not related and originated from Ecuador. The child showed mild motor and speech delay at age 9 months and developed symmetric hyperintensities in the basal ganglia at age 18 months. She walked at age 19 months and spoke about 20 words at 25 months. She did not have macrocephaly or seizures. NAA levels were about 15 times greater than normal, but lower than observed in classic cases of Canavan disease. Velinov et al. (2008) concluded that the R71H mutation is associated with a milder form of the disorder. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the U.S., Canavan disease has been observed in infants of Jewish extraction whose ancestors lived in Vilna (Banker et al., 1964). </p><p>Matalon (1990) stated that of the more than 70 patients he has studied biochemically, only about 5 are non-Jewish. The Jewish cases could be traced to a particular area of Eastern Europe. He had information on about 35 cases that had been identified in Saudi Arabia.</p><p>In an Iranian family with first-cousin parents, Mahloudji et al. (1970) described 4 affected sibs out of 9. Ozand et al. (1990) found deficient aspartoacylase activity in the fibroblasts cultured from 12 patients with Canavan disease in Saudi Arabia, where the disorder is apparently unusually frequent. </p><p>Feigenbaum et al. (2004) screened 1,423 Ashkenazi Jews in Toronto for the 3 most common mutations causing Canavan disease in that population (E285A, Y231X, and A305E) and found 25 carriers, yielding a carrier rate of 1:57. The authors noted that in all E285A carriers the 854C mutation was in disequilibrium with a T polymorphism at the site of the 693C-A mutation (Y231X), indicating a founder chromosome for the 854A-C mutation in the Ashkenazi Jewish population. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hagenfeldt et al. (1987) and Kvittingen et al. (1986) reported cases of N-acetylaspartic aciduria in patients with leukodystrophy and progressive cerebral atrophy, respectively. In the case of Kvittingen et al. (1986), aspartoacylase activity was normal, whereas in the case of Hagenfeldt et al. (1987), aspartoacylase activity was deficient. However, neither of these reports linked the findings to Canavan disease. Divry et al. (1988) reported a brother and sister with N-acetylaspartic aciduria and a neurologic syndrome associated with macrocephaly and leukodystrophy. Enzyme data were not available. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Aduchi and Aronson (1967); Banker and Victor (1979); Hogan and
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Richardson (1965); Morcaldi et al. (1969); Schmidt et al. (1978);
|
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Ungar and Goodman (1983); van Bogaert (1963); ZuRhein et al. (1960)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<strong>Cerebral spongy degeneration of infancy: a biochemical and ultrastructural study of affected twins.</strong>
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Neurology 22: 202-210, 1972.
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Aduchi, M., Aronson, S. M.
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<strong>Studies on spongy degeneration of the central nervous system (van Bogaert-Bertrand type). In: Aronson, S. M.; Volk, B. W.: Inborn Disorders of Sphingolipid Metabolism.</strong>
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Banker, B. Q., Robertson, J. T., Victor, M.
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Neurology 14: 981-1001, 1964.
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New York: Raven Press (pub.) 1979. Pp. 201-216.
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Arch. Path. 79: 357-363, 1965.
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Divry, P., Vianey-Liaud, C., Gay, C., Macabeo, V., Rapin, F., Echenne, B.
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<strong>N-acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leucodystrophy.</strong>
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Feigelman, T., Shih, V. E., Buyse, M. L.
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Feigenbaum, A., Moore, R., Clarke, J., Hewson, S., Chitayat, D., Ray, P. N., Stockley, T. L.
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<strong>Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.</strong>
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Hagenfeldt, L., Bollgren, I., Venizelos, N.
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<strong>N-acetylaspartic aciduria due to aspartoacylase deficiency--a new etiology of childhood leukodystrophy.</strong>
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J. Inherit. Metab. Dis. 10: 135-141, 1987.
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[Full Text: https://doi.org/10.1007/BF01800038]
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Hogan, G. R., Richardson, E. P., Jr.
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<strong>Spongy degeneration of the nervous system (Canavan's disease): report of a case in an Irish-American family.</strong>
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Pediatrics 35: 284-294, 1965.
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[PubMed: 14261965]
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Ishiyama, G., Lopez, I., Baloh, R. W., Ishiyama, A.
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<strong>Canavan's leukodystrophy is associated with defects in cochlear neurodevelopment and deafness.</strong>
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Neurology 60: 1702-1704, 2003.
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[PubMed: 12771274]
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[Full Text: https://doi.org/10.1212/01.wnl.0000065893.60879.d3]
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Janson, C. G., Kolodny, E. H., Zeng, B.-J., Raghavan, S., Pastores, G., Torres, P., Assadi, M., McPhee, S., Goldfarb, O., Saslow, B., Freese, A., Wang, D. J., Bilaniuk, L., Shera, D., Leone, P.
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<strong>Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.</strong>
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Kaul, R., Gao, G. P., Aloya, M., Balamurugan, K., Petrosky, A., Michals, K., Matalon, R.
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<strong>Canavan disease: mutations among Jewish and non-Jewish patients.</strong>
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Am. J. Hum. Genet. 55: 34-41, 1994.
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[PubMed: 8023850]
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Kaul, R., Gao, G. P., Balamurugan, K., Matalon, R.
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<strong>Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.</strong>
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Nature Genet. 5: 118-123, 1993.
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[PubMed: 8252036]
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Kvittingen, E. A., Guldal, G., Borsting, S., Skalpe, I. O., Stokke, O., Jellum, E.
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<strong>N-acetylaspartic aciduria in a child with a progressive cerebral atrophy.</strong>
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Clin. Chim. Acta 158: 217-227, 1986.
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Matalon, R., Kaul, R., Casanova, J., Michals, K., Johnson, A., Rapin, I., Gashkoff, P., Deanching, M.
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J. Inherit. Metab. Dis. 12 (suppl. 2): 329-331, 1989.
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<li>
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Matalon, R., Michals, K., Sebesta, D., Deanching, M., Gashkoff, P., Casanova, J.
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<strong>Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.</strong>
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Am. J. Med. Genet. 29: 463-471, 1988.
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[PubMed: 3354621]
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</p>
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<p class="mim-text-font">
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Matalon, R.
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<strong>Personal Communication.</strong>
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Miami, Fla. 11/3/1990.
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</p>
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<li>
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<p class="mim-text-font">
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Morcaldi, L., Salvati, G., Giordano, G. G., Guazzi, G. C.
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<strong>Congenital van Bogaert-Bertrand disease in a non-Jewish family.</strong>
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Acta Genet. Med. Gemellol. 18: 142-157, 1969.
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[PubMed: 5369099]
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[Full Text: https://doi.org/10.1017/s1120962300012130]
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</p>
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<p class="mim-text-font">
|
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Ozand, P. T., Gascon, G. G., Dhalla, M.
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<strong>Aspartoacylase deficiency and Canavan disease in Saudi Arabia.</strong>
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Am. J. Med. Genet. 35: 266-268, 1990.
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[PubMed: 2309767]
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[Full Text: https://doi.org/10.1002/ajmg.1320350224]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Schmidt, H., Rott, H.-D., Neuhauser, G., Neumann, W.
|
|
<strong>Spongiose Hirndystrophie im fruhen Kindesalter (Typ Canavan-van Bogaert-Bertrand): Erkrankung von 3 Geschwistern einer nichtjudischen Familie aus Oberfranken.</strong>
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Klin. Padiatr. 190: 580-585, 1978.
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[PubMed: 568685]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Shaag, A., Anikster, Y., Christensen, E., Glustein, J. Z., Fois, A., Michelakakis, H., Nigro, F., Pronicka, E., Ribes, A., Zabot, M. T., Elpeleg, O. N.
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<strong>The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients.</strong>
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Am. J. Hum. Genet. 57: 572-580, 1995.
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[PubMed: 7668285]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Sistermans, E. A., de Coo, R. F. M., van Beerendonk, H. M., Poll-The, B. T., Kleijer, W. J., van Oost, B. A.
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<strong>Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.</strong>
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Europ. J. Hum. Genet. 8: 557-560, 2000.
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[PubMed: 10909858]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200477]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Toft, P. B., Geiss-Holtorff, R., Rolland, M. O., Pryds, O., Muller-Forell, W., Christensen, E., Lehnert, W., Lou, H. C., Ott, D., Hennig, J., Henriksen, O.
|
|
<strong>Magnetic resonance imaging in juvenile Canavan disease.</strong>
|
|
Europ. J. Pediat. 152: 750-753, 1993.
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[PubMed: 8223809]
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[Full Text: https://doi.org/10.1007/BF01953994]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ungar, M., Goodman, R. M.
|
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<strong>Spongy degeneration of the brain in Israel: a retrospective study.</strong>
|
|
Clin. Genet. 23: 23-29, 1983.
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[PubMed: 6831759]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb00432.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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van Bogaert, L.
|
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<strong>Familial spongy degeneration of the brain. (Complementary study of the family R).</strong>
|
|
Acta Psychiat. Neurol. Scand. 39: 107-113, 1963.
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</p>
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</li>
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<li>
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Velinov, M., Zellers, N., Styles, J., Wisniewski, K.
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Zafeiriou, D. I., Kleijer, W. J., Maroupoulos, G., Anastasiou, A. L., Augoustidou-Savvopoulou, P., Papadopoulou, F., Kontopoulos, E. E., Fagan, E., Payne, S.
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<strong>Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings.</strong>
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Zeng, B. J., Wang, Z. H., Ribeiro, L. A., Leone, P., De Gasperi, R., Kim, S. J., Raghavan, S., Ong, E., Pastores, G. M., Kolodny, E. H.
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<strong>Familial idiocy with spongy degeneration of the central nervous system of van Bogaert-Bertrand type.</strong>
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[Full Text: https://doi.org/10.1212/wnl.10.11.998]
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