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Entry
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- #245200 - KRABBE DISEASE; KRB
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- OMIM
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<p>
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<span class="h4">#245200</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<li role="presentation">
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<a href="/clinicalSynopsis/245200"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#mapping">Mapping</a>
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<a href="#populationGenetics">Population Genetics</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="#history">History</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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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 class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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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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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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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 id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=KRABBE 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=18495&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Infantile Krabbe 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=18496&Typ=Pat" title="Late-infantile/juvenile Krabbe disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Late-infantile/juvenile Kr… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18497&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Adult Krabbe 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=22&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Krabbe disease </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1238/" 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/4044" 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/krabbe-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=245200[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="https://www.acmg.net/PDFLibrary/Krabbe.pdf" class="mim-tip-hint" title="Information and resources for newborn screening and genetics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">Newborn Screening</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=206436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Infantile Krabbe disease</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206443" title="Late-infantile/juvenile Krabbe disease" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Late-infantile/juvenile Kr…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Adult Krabbe disease</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Krabbe disease</a></div>
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</div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/d70ea06a-95cc-4b1c-ad5a-d4afa2bff0b6/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 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="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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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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</div>
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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:10587" 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/245200" 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/OMIA000578/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:10587" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<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 id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:245200" 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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</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> 189979005, 192782005<br />
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<strong>ICD10CM:</strong> E75.23<br />
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<strong>ORPHA:</strong> 206436, 206443, 206448, 487<br />
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<strong>DO:</strong> 10587<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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245200
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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KRABBE DISEASE; KRB
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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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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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GLOBOID CELL LEUKODYSTROPHY; GLD; GCL<br />
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GLOBOID CELL LEUKOENCEPHALOPATHY<br />
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GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY<br />
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GALACTOCEREBROSIDASE DEFICIENCY<br />
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GALC 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>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
|
|
Location
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</th>
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<th>
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|
Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
|
<a href="/geneMap/14/434?start=-3&limit=10&highlight=434">
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14q31.3
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Krabbe disease
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/245200"> 245200 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
GALC
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/606890"> 606890 </a>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/245200" 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>
|
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</button>
|
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</div>
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<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/245200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/245200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
|
</div>
|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
|
|
<span class="mim-font">
|
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|
- 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 />
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|
|
</span>
|
|
</div>
|
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|
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</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</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> 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 /> -
|
|
Abnormal brainstem auditory evoked potentials (BAEP) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855598</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/102971006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">102971006</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
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 /> -
|
|
Abnormal flash visual evoked potentials (VEP) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855599&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855599</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007928" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007928</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 />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> ABDOMEN </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Gastrointestinal </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> NEUROLOGIC </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Central Nervous System </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Hyperirritability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33624008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33624008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233480</a>]</span><br /> -
|
|
Hypersensitive to stimuli <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855589&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855589</a>]</span><br /> -
|
|
Mental deterioration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span><br /> -
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|
Neurodegeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027746</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002180</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002180" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002180</a>]</span><br /> -
|
|
Developmental regression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/609225004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">609225004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002376</a>]</span><br /> -
|
|
Progressive spasticity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859520</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002191" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002191</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002191" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002191</a>]</span><br /> -
|
|
Hyperactive deep tendon reflexes in early stage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855591</a>]</span><br /> -
|
|
Decerebrate posturing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23073007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23073007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30155000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30155000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011103&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011103</a>, <a href="https://bioportal.bioontology.org/search?q=C0231474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231474</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025013</a>]</span><br /> -
|
|
Hypertonia in early stage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968670</a>]</span><br /> -
|
|
Hypotonia in later stages <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855593</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
|
|
Diffuse cerebral atrophy on CT and MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855594&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855594</a>]</span><br /> -
|
|
Motor deterioration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866284&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866284</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002333" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002333</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002333" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002333</a>]</span><br /> -
|
|
Abnormal EEG <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274521009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274521009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R94.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R94.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151611</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span><br /> -
|
|
'Globoid multinucleated cells' in brain tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968671&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968671</a>]</span><br /> -
|
|
Loss of myelin and oligodendroglia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855596</a>]</span><br /> -
|
|
Demyelination <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32693004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32693004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878575</a>, <a href="https://bioportal.bioontology.org/search?q=C0011304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011304</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011096</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011096</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sensorimotor peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1112256&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1112256</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007141</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007141</a>]</span><br /> -
|
|
Diffuse demyelinating neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968672&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968672</a>]</span><br /> -
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Decreased nerve conduction velocities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857640</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000762</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Elevated cerebrospinal fluid (CSF) protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855600&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855600</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002922</a>]</span><br /> -
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Galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855601</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Episodic fever <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/A68" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">A68</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714772</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001954</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001954</a>]</span><br /> -
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Four clinical forms of Krabbe disease<br /> -
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Infantile form has onset within first 6 months of life<br /> -
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Infantile form accounts for 90% of cases<br /> -
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Infantile form usually leads to death by age 2 years<br /> -
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Late infantile form has onset between 19 months and 4 years<br /> -
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Juvenile form has onset between 4 and 19 years<br /> -
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Adult form onset has after 20 years<br /> -
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Incidence of 1 in 100,000<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutations in the glycosylceramidase gene (GALC, <a href="/entry/606890#0001">606890.0001</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 Krabbe disease (KRB) is caused by homozygous or compound heterozygous mutation in the galactosylceramidase gene (GALC; <a href="/entry/606890">606890</a>) on chromosome 14q31.</p>
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<p>Krabbe disease (KRB) is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (<a href="#64" class="mim-tip-reference" title="Wenger, D. A., Rafi, M. A., Luzi, P., Datto, J., Costantino-Ceccarini, E. <strong>Krabbe disease: genetic aspects and progress toward therapy.</strong> Molec. Genet. Metab. 70: 1-9, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10833326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10833326</a>] [<a href="https://doi.org/10.1006/mgme.2000.2990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10833326">Wenger et al., 2000</a>). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by <a href="#53" class="mim-tip-reference" title="Tappino, B., Biancheri, R., Mort, M., Regis, S., Corsolini, F., Rossi, A., Stroppiano, M., Lualdi, S., Fiumara, A., Bembi, B., Di Rocco, M., Cooper, D. N., Filocamo, M. <strong>Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.</strong> Hum. Mutat. 31: E1894-1914, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20886637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20886637</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20886637[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20886637">Tappino et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20886637+10833326" 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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<strong>Clinical Features</strong>
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<p><strong><em>Infantile Form</em></strong></p><p>
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<a href="#21" class="mim-tip-reference" title="Hofman, K. J., Naidu, S., Moser, H. W., Maumenee, I. H., Wenger, D. A. <strong>Cherry red spot in association with galactosylceramide-beta-galactosidase deficiency.</strong> J. Inherit. Metab. Dis. 10: 273-274, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3123790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3123790</a>] [<a href="https://doi.org/10.1007/BF01800078" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3123790">Hofman et al. (1987)</a> described cherry red spots in an infant with Krabbe disease who died at age 18 months. Spots were subtle but evident at age 13 months and became prominent at 17 months. <a href="#71" class="mim-tip-reference" title="Zlotogora, J., Cohen, T. <strong>Krabbe disease and protruding ears. (Letter)</strong> Am. J. Med. Genet. 28: 759-760, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3425640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3425640</a>] [<a href="https://doi.org/10.1002/ajmg.1320280328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3425640">Zlotogora and Cohen (1987)</a> pointed to protruding ears as a dysmorphic feature of Krabbe disease. Their report concerned a total of 11 affected children seen in Israel, all of Arab origin and 4 from related Druze families. <a href="#36" class="mim-tip-reference" title="Lyon, G., Hagberg, B., Evrard, P., Allaire, C., Pavone, L., Vanier, M. <strong>Symptomatology of late onset Krabbe's leukodystrophy: the European experience.</strong> Dev. Neurosci. 13: 240-244, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1817027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1817027</a>] [<a href="https://doi.org/10.1159/000112167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1817027">Lyon et al. (1991)</a> reviewed 50 cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3123790+3425640+1817027" 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="#53" class="mim-tip-reference" title="Tappino, B., Biancheri, R., Mort, M., Regis, S., Corsolini, F., Rossi, A., Stroppiano, M., Lualdi, S., Fiumara, A., Bembi, B., Di Rocco, M., Cooper, D. N., Filocamo, M. <strong>Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.</strong> Hum. Mutat. 31: E1894-1914, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20886637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20886637</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20886637[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20886637">Tappino et al. (2010)</a> reported 30 unrelated patients with Krabbe disease ascertained over a 30-year period. Twenty-one patients had the infantile form, with onset between 1 and 5 months of age. Four patients had onset between 8 and 11 months, 4 had onset around 4 years of age, and 1 had adult onset at age 26 years. Those with the infantile and late-infantile forms presented with psychomotor regression, muscular hypertonia and spasticity, truncal hypotonia, and irritability; 2 had seizures, and 2 had nystagmus. Brain imaging, when performed, showed white matter changes and/or hypomyelination, and 6 patients had calcifications. Peripheral nerve conduction velocities were slowed. Residual GALC enzyme activity ranged from 0 to 22% of normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20886637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a retrospective analysis of 26 Italian or Tunisian patients with Krabbe disease, <a href="#15" class="mim-tip-reference" title="Fiumara, A., Barone, R., Arena, A., Filocamo, M., Lissens, W., Pavone, L., Sorge, G. <strong>Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G-A (p.gly41ser) mutation.</strong> Clin. Genet. 80: 452-458, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21070211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21070211</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01572.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21070211">Fiumara et al. (2011)</a> found that 9 (34%) had the classic early infantile form with onset before age 6 months. All but 1 were born of consanguineous parents; family history of another child adopted from Brazil was not available. All presented between 2 and 5 months of age with unprovoked inconsolable crying, opisthotonus, and hemiplegia. There was rapid progressive motor deterioration with generalized hypertonia and hyperreflexia. Four patients had horizontal nystagmus, 7 had optic nerve atrophy, and 4 had seizures. Brain MRI showed symmetric cerebral and cerebellar demyelination, as well as changes in the basal nuclei and corpus callosum. Generalized brain atrophy with dilatation of the ventricles and subarachnoid spaces was evident later over the course of the disease. GALC activity levels ranged between 0.39 and 5.8% of normal. Death occurred between 6 and 29 months of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21070211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Late-Onset Form</em></strong></p><p>
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<a href="#49" class="mim-tip-reference" title="Suzuki, K. <strong>Personal Communication.</strong> Bronx, N. Y. 1972."None>Suzuki (1972)</a> described 2 patients with morphologically and enzymatically proven Krabbe disease who survived into childhood and into the teens. <a href="#7" class="mim-tip-reference" title="Crome, L., Hanefeld, F., Patrick, D., Wilson, J. <strong>Late onset globoid cell leucodystrophy.</strong> Brain 96: 841-848, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4773865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4773865</a>] [<a href="https://doi.org/10.1093/brain/96.4.841" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4773865">Crome et al. (1973)</a> also described a 'late-onset' variety. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4773865" 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>From complementation studies by somatic cell hybridization, <a href="#34" class="mim-tip-reference" title="Loonen, M. C. B., Van Diggelen, O. P., Janse, H. C., Kleijer, W. J., Arts, W. F. M. <strong>Late-onset globoid cell leucodystrophy (Krabbe's disease): clinical and genetic delineation of two forms and their relation to the early-infantile form.</strong> Neuropediatrics 16: 137-142, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4047347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4047347</a>] [<a href="https://doi.org/10.1055/s-2008-1052558" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4047347">Loonen et al. (1985)</a> concluded that the early infantile and later onset forms of GLD are allelic. They proposed that there are 2 later onset forms: a late infantile or early childhood form, and a late childhood or juvenile form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4047347" 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="Kolodner, R. D. <strong>Personal Communication.</strong> Boston, Mass. 7/8/1989."None>Kolodner (1989)</a> described several cases with a later onset, the oldest case in his experience being that of an 84-year-old woman. <a href="#42" class="mim-tip-reference" title="Phelps, M., Aicardi, J., Vanier, M.-T. <strong>Late onset Krabbe's leukodystrophy: a report of four cases.</strong> J. Neurol. Neurosurg. Psychiat. 54: 293-296, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2056315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2056315</a>] [<a href="https://doi.org/10.1136/jnnp.54.4.293" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2056315">Phelps et al. (1991)</a> reported 4 cases with later onset--at ages 4 years and 9 months, 8 years, 5 years, and 5 years. Two of the patients were sibs; the 2 others were each born of a consanguineous mating. One of the patients, although showing minor abnormalities at age 5, was not evaluated medically until the age of 16 and was still working as a baker at the age of 19 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2056315" 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="#60" class="mim-tip-reference" title="Verdru, P., Lammens, M., Dom, R., Van Elsen, A., Carton, H. <strong>Globoid cell leukodystrophy: a family with both late-infantile and adult type.</strong> Neurology 41: 1382-1384, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1891085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1891085</a>] [<a href="https://doi.org/10.1212/wnl.41.9.1382" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1891085">Verdru et al. (1991)</a> described globoid cell leukodystrophy in a 19-year-old daughter of consanguineous parents. Clinical examination showed postural tremor of the right upper limb, pyramidal paresis of the left lower limb, and extensive plantar responses bilaterally. There were no signs of peripheral nerve involvement or intellectual impairment when she was first seen. By 9 months later, however, the signs had progressed and there was clinical evidence of peripheral nerve involvement. The patient had almost complete deficiency of galactosylceramide beta-galactosidase. A brother had had normal psychomotor development until the age of 14 months, when he began to have a toppling gait. He became progressively spastic and blind, developed seizures, and died at the age of 4 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1891085" 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="#29" class="mim-tip-reference" title="Kolodny, E. H., Raghavan, S., Krivit, W. <strong>Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases.</strong> Dev. Neurosci. 13: 232-239, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1817026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1817026</a>] [<a href="https://doi.org/10.1159/000112166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1817026">Kolodny et al. (1991)</a> reviewed the clinical and biochemical features of 15 cases of late-onset Krabbe disease. <a href="#57" class="mim-tip-reference" title="Turazzini, M., Beltramello, A., Bassi, R., Del Colle, R., Silvestri, M. <strong>Adult onset Krabbe's leukodystrophy: a report of 2 cases.</strong> Acta Neurol. Scand. 96: 413-415, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9449482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9449482</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1997.tb00308.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9449482">Turazzini et al. (1997)</a> described 2 brothers with adult-onset Krabbe disease. A 39-year-old man presented with a 2-year history of persisting unsteadiness of gait with weakness of the legs. A younger brother, 29 years old, was asymptomatic but showed tetra-hyperreflexia with bilateral ankle clonus. Both brothers showed MRI changes of demyelination in the white matter of the brain, while nerve conduction was completely normal. Both patients showed deficiency of galactosylceramide beta-galactosidase comparable to that found in the infantile form. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9449482+1817026" 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="#53" class="mim-tip-reference" title="Tappino, B., Biancheri, R., Mort, M., Regis, S., Corsolini, F., Rossi, A., Stroppiano, M., Lualdi, S., Fiumara, A., Bembi, B., Di Rocco, M., Cooper, D. N., Filocamo, M. <strong>Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.</strong> Hum. Mutat. 31: E1894-1914, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20886637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20886637</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20886637[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20886637">Tappino et al. (2010)</a> reported that 3 of 4 patients with juvenile onset presented with gait disturbances and frequent falls due to spasticity and ataxia, and the fourth presented with decreased visual acuity. Brain imaging showed white matter changes, and 2 had decreased peripheral nerve conduction velocities. Residual GALC enzyme activity ranged from 0 to 13% of normal. One man presented at age 26 years with gait disturbances, frequent falls, and spasticity; he had 5% residual GALC enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20886637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a retrospective analysis of 26 Italian or Tunisian patients with Krabbe disease, <a href="#15" class="mim-tip-reference" title="Fiumara, A., Barone, R., Arena, A., Filocamo, M., Lissens, W., Pavone, L., Sorge, G. <strong>Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G-A (p.gly41ser) mutation.</strong> Clin. Genet. 80: 452-458, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21070211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21070211</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01572.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21070211">Fiumara et al. (2011)</a> found that 17 (66%) had the late-onset form, including 6 with late infantile, 9 with early juvenile, and 2 with adult onset. Fourteen of the patients came from the same area of Sicily, north of Catania. Nine patients died between 6 and 12 years. The first signs were hemiplegia in 12 and visual impairment in 3, followed by rapid deterioration in motor abilities within 3 to 24 months. All patients showed white matter abnormalities at onset, affecting the parietooccipital areas, corpus callosum, and corticospinal tracts, with later involvement of the internal and external capsules, subcortical U fibers, pyramidal tracts, and brainstem. Four patients showed impairment of the auditory and visual evoked potentials. Six of 12 patients studied showed mixed demyelinating and axonal sensorimotor neuropathy. Molecular studies showed that 4 patients were homozygous for a founder G41S mutation (<a href="/entry/606890#0010">606890.0010</a>), and 4 were compound heterozygous for G41S and another mutation. Three of those homozygous were alive in their forties, although significantly handicapped; 1 had onset at age 3 years and 2 had onset at age 23 years. The fourth homozygous patient had onset at age 4 years and was alive at age 27. There was no correlation between age at onset, disease severity, genotype, and GALC enzyme activity, which ranged from 1 to 6% among those homozygous for G41S. However, considering the whole study, presence of the G41S mutation was associated with a more protracted disease course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21070211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Neurophysiologic Studies</em></strong></p><p>
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<a href="#24" class="mim-tip-reference" title="Husain, A. M., Altuwaijri, M., Aldosari, M. <strong>Krabbe disease: neurophysiologic studies and MRI correlations.</strong> Neurology 63: 617-620, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15326231/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15326231</a>] [<a href="https://doi.org/10.1212/01.wnl.0000134651.38196.f8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15326231">Husain et al. (2004)</a> reported neurophysiologic studies of 20 patients with early-onset Krabbe disease and 6 patients with late-onset Krabbe disease. Of early-onset patients, all had abnormal nerve conduction studies (NCS), 88% had abnormal brainstem auditory evoked potentials (BAEP), 65% had abnormal EEG, and 53% had abnormal flash visual evoked potentials (VEP). Of late-onset patients, 20% had abnormal nerve conduction studies, 40% had abnormal BAEP, 33% had abnormal EEG, and all had normal flash VEP. The abnormalities correlated well with disease severity measured by MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15326231" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#47" class="mim-tip-reference" title="Siddiqi, Z. A., Sanders, D. B., Massey, J. M. <strong>Peripheral neuropathy in Krabbe disease: electrodiagnostic findings.</strong> Neurology 67: 263-267, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16864819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16864819</a>] [<a href="https://doi.org/10.1212/01.wnl.0000230153.34613.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16864819">Siddiqi et al. (2006)</a> found that 25 of 27 children with Krabbe disease, aged 1 day to 8 years, showed abnormal motor and/or sensory nerve conduction studies with uniform slowing of conduction velocities. Motor and sensory responses were abnormal in 82% of patients. The severity of the demyelination on NCS correlated with clinical severity of the disease. There were no conduction blocks, indicating uniform rather than focal demyelination of peripheral nerves. Marked NCS abnormalities were found in a 1-day-old and 2 3-week-old neonates, indicating that peripheral neuropathy occurs very early in Krabbe disease and that nerves are likely affected even in intrauterine life. <a href="#47" class="mim-tip-reference" title="Siddiqi, Z. A., Sanders, D. B., Massey, J. M. <strong>Peripheral neuropathy in Krabbe disease: electrodiagnostic findings.</strong> Neurology 67: 263-267, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16864819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16864819</a>] [<a href="https://doi.org/10.1212/01.wnl.0000230153.34613.84" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16864819">Siddiqi et al. (2006)</a> concluded that nerve conduction studies are a sensitive tool to screen for Krabbe disease. In an accompanying paper, <a href="#46" class="mim-tip-reference" title="Siddiqi, Z. A., Sanders, D. B., Massey, J. M. <strong>Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation.</strong> Neurology 67: 268-272, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16864820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16864820</a>] [<a href="https://doi.org/10.1212/01.wnl.0000230156.01228.33" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16864820">Siddiqi et al. (2006)</a> found that nerve conduction studies improved in 7 (60%) of 12 patients after hematopoietic stem cell transplantation followed for an average of 18 months. However, some patients showed further decline after an initial improvement. There was greater improvement if the transplant was performed earlier in life. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16864820+16864819" 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>Krabbe disease is an autosomal recessive disorder. First-cousin parents were noted by <a href="#58" class="mim-tip-reference" title="Van Gehuchten, P. <strong>Sur l'origine des cellules globoides dans un cas de sclerose diffuse.</strong> Rev. Neurol. 94: 253-258, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13351148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13351148</a>]" pmid="13351148">Van Gehuchten (1956)</a>. <a href="#39" class="mim-tip-reference" title="Nelson, E., Aurebeck, G., Osterberg, K., Berry, J., Jabbour, J. T., Bornhofen, J. <strong>Ultrastructural and chemical studies on Krabbe's disease.</strong> J. Neuropath. Exp. Neurol. 22: 414-434, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14045001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14045001</a>] [<a href="https://doi.org/10.1097/00005072-196307000-00004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14045001">Nelson et al. (1963)</a> observed 3 affected sibs. <a href="#2" class="mim-tip-reference" title="Arroyo, H. A., Grippo, J., Taratuto, A., Duffau, J., Chamoles, N. <strong>Krabbe disease in monozygotic triplets.</strong> Dev. Med. Child Neurol. 33: 1101-1103, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1778346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1778346</a>] [<a href="https://doi.org/10.1111/j.1469-8749.1991.tb14833.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1778346">Arroyo et al. (1991)</a> described Krabbe disease in all 3 of monozygotic triplets. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14045001+13351148+1778346" 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>Although deficiency of cerebroside-sulfatide sulfotransferase was earlier reported in Krabbe disease (<a href="#5" class="mim-tip-reference" title="Bachhawat, B. K., Austin, J., Armstrong, D. <strong>A cerebroside sulphotransferase deficiency in a human disorder of myelin.</strong> Biochem. J. 104: 15C-17C, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4860468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4860468</a>] [<a href="https://doi.org/10.1042/bj1040015c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4860468">Bachhawat et al., 1967</a>), <a href="#48" class="mim-tip-reference" title="Suzuki, K., Suzuki, Y. <strong>Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase.</strong> Proc. Nat. Acad. Sci. 66: 302-309, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5271165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5271165</a>] [<a href="https://doi.org/10.1073/pnas.66.2.302" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5271165">Suzuki and Suzuki (1970)</a> found deficiency of galactocerebroside beta-galactosidase which they thought was etiologic and better accounted for the morphologic and biochemical features of the disorder. <a href="#50" class="mim-tip-reference" title="Suzuki, Y., Suzuki, K. <strong>Krabbe's globoid cell leukodystrophy: deficiency of galactocerebrosidase in serum, leukocytes, and fibroblasts.</strong> Science 171: 73-74, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5538703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5538703</a>] [<a href="https://doi.org/10.1126/science.171.3966.73" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5538703">Suzuki and Suzuki (1971)</a> demonstrated an intermediate level of activity of galactocerebroside beta-galactosidase in serum, white cells, and fibroblasts of heterozygotes. <a href="#69" class="mim-tip-reference" title="Young, E., Wilson, J., Patrick, A. D., Crome, L. <strong>Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset.</strong> Arch. Dis. Child. 47: 449-450, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5034675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5034675</a>] [<a href="https://doi.org/10.1136/adc.47.253.449" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5034675">Young et al. (1972)</a> found deficiency of the same enzyme, galactocerebrosidase, in a case with late onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5034675+5538703+4860468+5271165" 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 postmortem brain tissue from 4 infants with Krabbe disease, <a href="#20" class="mim-tip-reference" title="Hatton, C., Ghanem, S. S., Koss, D. J., Abdi, I. Y., Gibbons, E., Guerreiro, R., Bras, J., International DLB Genetics Consortium, Walker, L., Gelpi, E., Heywood, W., Outeiro, T. F., Attems, J., McFarland, R., Forsyth, R., El-Agnaf, O. M., Erskine, D. <strong>Prion-like alpha-synuclein pathology in the brain of infants with Krabbe disease.</strong> Brain 145: 1257-1263, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34999780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34999780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34999780[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awac002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34999780">Hatton et al. (2022)</a> identified accumulation of alpha-synuclein, particularly in globoid cells of the medulla oblongata, crus cerebri and cerebral cortex. In 2 cases, frozen brain tissue was available for aggregation testing, and the alpha-synuclein exhibited aggregation into fibrils, demonstrating prion-like capabilities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34999780" 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="#8" class="mim-tip-reference" title="D'Agostino, A. N., Sayre, G. P., Hayles, A. B. <strong>Krabbe's disease: globoid cell type of leukodystrophy.</strong> Arch. Neurol. 8: 82-96, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14024503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14024503</a>] [<a href="https://doi.org/10.1001/archneur.1963.00460010098012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14024503">D'Agostino et al. (1963)</a> concluded that the initial histologic manifestation of the disease is the presence of PAS-positive material extracellularly and cerithin in microglial cells, which later appear as globoid cells. Definitive diagnosis of this disorder, which clinically can be so similar to several other encephalopathies of infancy, is made by finding these characteristic 'globoid cells' in brain tissue (<a href="#37" class="mim-tip-reference" title="Martin, J. J., Leroy, J. G., Ceuterick, C., Libert, J., Dodinval, P., Martin, L. <strong>Fetal Krabbe leukodystrophy: a morphologic study of two cases.</strong> Acta Neuropath. 53: 87-91, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7211207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7211207</a>] [<a href="https://doi.org/10.1007/BF00689987" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7211207">Martin et al., 1981</a>). These cells, derived from monocyte-macrophage stem cells of the bone marrow, contain accumulated psychosine as well as galactosylceramide. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14024503+7211207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Differential Diagnosis</em></strong></p><p>
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<a href="#63" class="mim-tip-reference" title="Wenger, D. A., Louie, E. <strong>Pseudodeficiencies of arylsulfatase A and galactocerebrosidase activities.</strong> Dev. Neurosci. 13: 216-221, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1687777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1687777</a>] [<a href="https://doi.org/10.1159/000112163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1687777">Wenger and Louie (1991)</a> discussed pseudodeficiency of galactocerebrosidase comparable to the pseudodeficiency of arylsulfatase A (<a href="/entry/250100">250100</a>); both are hard to distinguish from the bona fide GALC deficiency which may signify a presymptomatic person who will present with adult-onset clinical disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1687777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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<a href="#18" class="mim-tip-reference" title="Harzer, K., Hager, H.-D., Tariverdian, G. <strong>Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies.</strong> Hum. Genet. 77: 342-344, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3692478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3692478</a>] [<a href="https://doi.org/10.1007/BF00291423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3692478">Harzer et al. (1987)</a> demonstrated the feasibility of prenatal enzymatic diagnosis using chorionic villi. <a href="#19" class="mim-tip-reference" title="Harzer, K., Schuster, I. <strong>Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi: pitfalls in the use of uncultured villi.</strong> Hum. Genet. 84: 83-85, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2606482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2606482</a>] [<a href="https://doi.org/10.1007/BF00210679" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2606482">Harzer and Schuster (1989)</a> warned against the use of uncultured chorionic villi in the prenatal enzymatic diagnosis; this material is subject to uncontrolled contamination with maternal enzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3692478+2606482" 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="#32" class="mim-tip-reference" title="Krivit, W., Shapiro, E. G., Peters, C., Wagner, J. E., Cornu, G., Kurtzberg, J., Wenger, D. A., Kolodny, E. H., Vanier, M. T., Loes, D. J., Dusenbery, K., Lockman, L. A. <strong>Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.</strong> New Eng. J. Med. 338: 1119-1126, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9545360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9545360</a>] [<a href="https://doi.org/10.1056/NEJM199804163381605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9545360">Krivit et al. (1998)</a> reported on their experience using allogeneic hematopoietic stem cell transplantation in the treatment of Krabbe disease. They treated 5 children, 1 with the infantile type and 4 with late-onset disease. Four of the patients had clinical CNS abnormalities before transplantation. In all 4 cases, CNS deterioration was reversed. In the patient with the infantile form of the disease, the expected decline in CNS function had not occurred by the age of 16 months, 14 months posttransplantation. The authors concluded that CNS manifestations of Krabbe disease can be reversed or prevented by allogeneic hematopoietic stem cell transplantation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9545360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Escolar, M. L., Poe, M. D., Provenzale, J. M., Richards, K. C., Allison, J., Wood, S., Wenger, D. A., Pietryga, D., Wall, D., Champagne, M., Morse, R., Krivit, W., Kurtzberg, J. <strong>Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease.</strong> New Eng. J. Med. 352: 2069-2081, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15901860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15901860</a>] [<a href="https://doi.org/10.1056/NEJMoa042604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15901860">Escolar et al. (2005)</a> assessed the safety and efficacy of transplantation of umbilical cord blood from unrelated donors in 11 asymptomatic newborns and 14 symptomatic infants with infantile Krabbe disease. All were prepared with myeloablative chemotherapy. The rates of donor-cell engraftment and survival were 100% and 100%, respectively, among the asymptomatic newborns and 100% and 43%, respectively, among symptomatic infants. Surviving patients showed durable engraftment of donor-derived hematopoietic cells with restoration of normal blood galactocerebrosidase levels. Infants who underwent transplantation before the development of symptoms showed progressive central myelination and continued gains in developmental skills, and most had age-appropriate cognitive function and receptive language skills, but a few had mild to moderate delays in expressive language and mild to severe delays in gross motor function. Children who underwent transplantation after the onset of symptoms had minimal neurologic improvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15901860" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#62" class="mim-tip-reference" title="Wang, R. Y., Bodamer, O. A., Watson, M. S., Wilcox, W. R. <strong>Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.</strong> Genet. Med. 13: 457-484, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21502868/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21502868</a>] [<a href="https://doi.org/10.1097/GIM.0b013e318211a7e1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21502868">Wang et al. (2011)</a> described the ACMG standards and guidelines for the diagnostic confirmation and management of presymptomatic individuals with lysosomal storage diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21502868" 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="#54" class="mim-tip-reference" title="Thompson-Stone, R., Ream, M. A., Gelb, M., Matern, D., Orsini, J. J., Levy, P. A., Rubin, J. P., Wenger, D. A., Burton, B. K., Escolar, M. L., Kurtzberg, J. <strong>Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe disease.</strong> Molec. Genet. Metab. 134: 53-59, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33832819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33832819</a>] [<a href="https://doi.org/10.1016/j.ymgme.2021.03.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33832819">Thompson-Stone et al. (2021)</a> reported recommendations from the Krabbe Disease Newborn Screening Council for follow-up of positive newborn screening. Infants with newborn screening showing low GALC activity and a high psychosine level (10 or higher nmol/L) were recommended to enter an early infantile Krabbe disease pathway with immediate family counseling and referral for disease modifying therapy such as hematopoietic stem cell transplantation. Infants with newborn screening showing low GALC activity and an intermediate level of psychosine (2 to less than 10 nmol/L) were recommended to enter an at-risk infantile Krabbe disease pathway with long-term follow-up and monitoring. Infants with newborn screening showing low GALC activity and normal psychosine levels were recommended to enter a low-risk pathway with some degree of follow-up based on additional testing or clinical findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33832819" 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>Studies by <a href="#70" class="mim-tip-reference" title="Zlotogora, J., Chakraborty, S., Knowlton, R. G., Wenger, D. A. <strong>Krabbe disease locus mapped to chromosome 14 by genetic linkage.</strong> Am. J. Hum. Genet. 47: 37-44, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971996</a>]" pmid="1971996">Zlotogora et al. (1990)</a> showed that the Krabbe disease mutation is located on human chromosome 14. <a href="#70" class="mim-tip-reference" title="Zlotogora, J., Chakraborty, S., Knowlton, R. G., Wenger, D. A. <strong>Krabbe disease locus mapped to chromosome 14 by genetic linkage.</strong> Am. J. Hum. Genet. 47: 37-44, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971996</a>]" pmid="1971996">Zlotogora et al. (1990)</a> undertook linkage analysis with RFLPs, focusing first on chromosome 17, based on a study by <a href="#35" class="mim-tip-reference" title="Lyerla, T. A., Konola, J. T., Skiba, M. C., Raghavan, S. <strong>Galactocerebrosidase activity in somatic cell hybrids derived from twitcher mouse/control human fibroblasts is associated with human chromosome 17.</strong> Am. J. Hum. Genet. 44: 198-207, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2912067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2912067</a>]" pmid="2912067">Lyerla et al. (1989)</a>. When no evidence of linkage was found there, they took advantage of the homology between the mouse and human chromosomes: the 'twitcher' mouse mutation results in an autosomal recessive leukodystrophy that is similar histopathologically to Krabbe disease (<a href="#10" class="mim-tip-reference" title="Duchen, L. W., Eicher, E. M., Jacobs, J. M., Scaravilli, F., Teixeira, F. <strong>Hereditary leucodystrophy in the mouse: the new mutant twitcher.</strong> Brain 103: 695-710, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7417782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7417782</a>] [<a href="https://doi.org/10.1093/brain/103.3.695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7417782">Duchen et al., 1980</a>). <a href="#52" class="mim-tip-reference" title="Sweet, H. <strong>Twitcher (twi) is on chromosome 12.</strong> Mouse Newsletter 75: 30, 1986."None>Sweet (1986)</a> found that the 'twitcher' locus is on mouse chromosome 12, a chromosome that has large regions of homology with human chromosome 14. A multipoint lod score of 3.40 was found with marker D14S24 (14q21-q31). <a href="#6" class="mim-tip-reference" title="Cannizzaro, L. A., Chen, Y. Q., Rafi, M. A., Wenger, D. A. <strong>Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization.</strong> Cytogenet. Cell Genet. 66: 244-245, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8162701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8162701</a>] [<a href="https://doi.org/10.1159/000133703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8162701">Cannizzaro et al. (1994)</a> mapped the GALC gene (<a href="/entry/606890">606890</a>) to chromosome 14q31. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1971996+8162701+7417782+2912067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a study in Catania in Sicily, <a href="#16" class="mim-tip-reference" title="Fiumara, A., Pavone, L., Siciliano, L., Tine, A., Parano, E., Innico, G. <strong>Late-onset globoid cell leukodystrophy: report on 7 new patients.</strong> Childs Nerv. Syst. 6: 194-197, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2383873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2383873</a>] [<a href="https://doi.org/10.1007/BF01850970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2383873">Fiumara et al. (1990)</a> found that 7 of 10 cases seen in a 12-year period were of the late infantile form, suggesting an unusually high frequency of the gene in Sicily. Of the 7 with the late infantile form, 2 were sibs born of first-cousin parents and 1 of the others was the product of a first-cousin marriage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2383873" 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="#73" class="mim-tip-reference" title="Zlotogora, J., Regev, R., Zeigler, M., Iancu, T. C., Bach, G. <strong>Krabbe disease: increased incidence in a highly inbred community.</strong> Am. J. Med. Genet. 21: 765-770, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4025402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4025402</a>] [<a href="https://doi.org/10.1002/ajmg.1320210420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4025402">Zlotogora et al. (1985)</a> found a frequency of 6 per 1,000 live births in a large Druze isolate in Israel. The isolate numbered about 8,000 persons. The Druze religion dates from the 11th century when it was founded in Egypt with subsequent expansion into Syria and Lebanon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4025402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 different inbred communities in Israel with Krabbe disease, <a href="#44" class="mim-tip-reference" title="Rafi, M. A., Luzi, P., Zlotogora, J., Wenger, D. A. <strong>Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.</strong> Hum. Genet. 97: 304-308, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786069</a>] [<a href="https://doi.org/10.1007/BF02185759" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786069">Rafi et al. (1996)</a> identified 2 different founder mutations in the GALC gene: 1 in a Moslem Arab population (<a href="/entry/606890#0003">606890.0003</a>) and 1 in a Druze population (<a href="/entry/606890#0004">606890.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786069" 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="#53" class="mim-tip-reference" title="Tappino, B., Biancheri, R., Mort, M., Regis, S., Corsolini, F., Rossi, A., Stroppiano, M., Lualdi, S., Fiumara, A., Bembi, B., Di Rocco, M., Cooper, D. N., Filocamo, M. <strong>Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.</strong> Hum. Mutat. 31: E1894-1914, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20886637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20886637</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20886637[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20886637">Tappino et al. (2010)</a> noted that the median prevalence of Krabbe disease is estimated to be about 1 in 100,000 (1.0 x 10(-5)) with wide variations between countries: 1.35 in the Netherlands, 1.21 in Portugal, 1.00 in Turkey, 0.71 in Australia, and 0.40 in Czech Republic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20886637" 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="#45" class="mim-tip-reference" title="Sakai, N., Inui, K., Fujii, N., Fukushima, H., Nishimoto, J., Yanagihara, I., Isegawa, Y., Iwamatsu, A., Okada, S. <strong>Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase.</strong> Biochem. Biophys. Res. Commun. 198: 485-491, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8297359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8297359</a>] [<a href="https://doi.org/10.1006/bbrc.1994.1071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8297359">Sakai et al. (1994)</a> identified homozygosity for a nonsense mutation in the GALC gene (<a href="/entry/606890#0001">606890.0001</a>) in a patient with typical Krabbe disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8297359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#43" class="mim-tip-reference" title="Rafi, M. A., Luzi, P., Chen, Y. Q., Wenger, D. A. <strong>A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.</strong> Hum. Molec. Genet. 4: 1285-1289, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581365</a>] [<a href="https://doi.org/10.1093/hmg/4.8.1285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581365">Rafi et al. (1995)</a> analyzed the GALC gene in 2 patients with infantile Krabbe disease and identified homozygosity for a 30-kb deletion (<a href="/entry/606890#0002">606890.0002</a>) that was found to be associated with a 502C-T transition on the same allele, which they designated '502/del.' The transition was determined to be a polymorphism. <a href="#43" class="mim-tip-reference" title="Rafi, M. A., Luzi, P., Chen, Y. Q., Wenger, D. A. <strong>A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.</strong> Hum. Molec. Genet. 4: 1285-1289, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581365</a>] [<a href="https://doi.org/10.1093/hmg/4.8.1285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581365">Rafi et al. (1995)</a> studied an additional 46 patients with infantile Krabbe disease and identified 8 who were homozygous for the 502/del allele and 5 who were compound heterozygotes for 502/del allele and a second mutant allele, including 3 missense mutations and 1 single nucleotide insertion, which had not yet been confirmed by expression studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7581365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="De Gasperi, R., Gama Sosa, M. A., Sartorato, E. L., Battistini, S., MacFarlane, H., Gusella, J. F., Krivit, W., Kolodny, E. H. <strong>Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.</strong> Am. J. Hum. Genet. 59: 1233-1242, 1996. Note: Erratum: Am. J. Hum. Genet. 60: 1264 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940268</a>]" pmid="8940268">De Gasperi et al. (1996)</a> analyzed the GALC gene in 9 families with late-onset GLD and in 1 patient with classic Krabbe disease. They reported that 5 of the patients were compound heterozygotes for the deletion (<a href="/entry/606890#0002">606890.0002</a>) first reported by <a href="#43" class="mim-tip-reference" title="Rafi, M. A., Luzi, P., Chen, Y. Q., Wenger, D. A. <strong>A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.</strong> Hum. Molec. Genet. 4: 1285-1289, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7581365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7581365</a>] [<a href="https://doi.org/10.1093/hmg/4.8.1285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7581365">Rafi et al. (1995)</a> and another mutation in the GALC gene. Most of the novel mutations identified appeared to be private family mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8940268+7581365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of the molecular genetics of Krabbe disease, <a href="#65" class="mim-tip-reference" title="Wenger, D. A., Rafi, M. A., Luzi, P. <strong>Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.</strong> Hum. Mutat. 10: 268-279, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9338580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9338580</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9338580">Wenger et al. (1997)</a> stated that more than 40 mutations had been identified in patients with all clinical types of globoid cell leukodystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9338580" 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>Among 30 unrelated Italian patients with Krabbe disease, <a href="#53" class="mim-tip-reference" title="Tappino, B., Biancheri, R., Mort, M., Regis, S., Corsolini, F., Rossi, A., Stroppiano, M., Lualdi, S., Fiumara, A., Bembi, B., Di Rocco, M., Cooper, D. N., Filocamo, M. <strong>Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.</strong> Hum. Mutat. 31: E1894-1914, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20886637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20886637</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20886637[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.21367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20886637">Tappino et al. (2010)</a> identified 33 different mutations in the GALC gene, including 14 novel mutations (see, e.g., <a href="/entry/606890#0005">606890.0005</a>-<a href="/entry/606890#0009">606890.0009</a>). The 15 novel mutations included 4 missense mutations in highly conserved residues, 7 frameshift mutations, 3 nonsense mutations, and 1 splice site mutation. Thus, 73% of the newly described mutations were expected to affect mRNA processing. In silico analysis predicted that the missense mutations had a high probability of being deleterious. The common 30-kb deletion (<a href="/entry/606890#0002">606890.0002</a>) accounted for 18% of mutant alleles, and 4 patients had a founder mutation (G553R; <a href="/entry/606890#0005">606890.0005</a>). Otherwise, most of the mutations were private. There were no clear genotype-phenotype correlations, but some missense mutations were associated with milder phenotypes (see, e.g., G286D; <a href="/entry/606890#0008">606890.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20886637" 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="De Gasperi, R., Gama Sosa, M. A., Sartorato, E. L., Battistini, S., MacFarlane, H., Gusella, J. F., Krivit, W., Kolodny, E. H. <strong>Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.</strong> Am. J. Hum. Genet. 59: 1233-1242, 1996. Note: Erratum: Am. J. Hum. Genet. 60: 1264 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940268</a>]" pmid="8940268">De Gasperi et al. (1996)</a> noted that it was not always possible to make conclusions about the phenotype from the genotype. Most difficult to explain was the phenotype of 5 late-onset patients who carried on both alleles mutations that completely abolished enzyme activity. They concluded that these observations point to the possibility that other genetic factors besides mutations in the galactocerebrosidase gene may contribute to the phenotype in late-onset GLD. <a href="#65" class="mim-tip-reference" title="Wenger, D. A., Rafi, M. A., Luzi, P. <strong>Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.</strong> Hum. Mutat. 10: 268-279, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9338580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9338580</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9338580">Wenger et al. (1997)</a> noted that some mutations clearly resulted in the infantile type if found in homozygous state or in compound heterozygous state with another severe mutation, but it is difficult to predict the phenotype of novel mutations or mutations found in apparent heterozygous state (when a second mutated allele has not been identified). A high frequency of polymorphic changes on apparent disease-causing alleles also complicated the interpretation of the effects of mutations. The molecular characterization of the naturally occurring mouse, dog, and monkey models will permit their use in therapeutic trials. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8940268+9338580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a review of GALC mutations causing Krabbe disease, <a href="#17" class="mim-tip-reference" title="Furuya, H., Kukita, Y., Nagano, S., Sakai, Y., Yamashita, Y., Fukuyama, H., Inatomi, Y., Saito, Y., Koike, R., Tsuji, S., Fukumaki, Y., Hayashi, K., Kobayashi, T. <strong>Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.</strong> Hum. Genet. 100: 450-456, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9272171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9272171</a>] [<a href="https://doi.org/10.1007/s004390050532" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9272171">Furuya et al. (1997)</a> found that those in the adult-onset form occurred in the N- or C-terminus, whereas those in the infantile form occurred in the central domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9272171" 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="#68" class="mim-tip-reference" title="Xu, C., Sakai, N., Taniike, M., Inui, K., Ozono, K. <strong>Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.</strong> J. Hum. Genet. 51: 548-554, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16607461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16607461</a>] [<a href="https://doi.org/10.1007/s10038-006-0396-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16607461">Xu et al. (2006)</a> investigated mutations of the GALC gene in 17 unrelated Japanese patients with Krabbe disease and reviewed the mutations previously reported in 11 Japanese patients. The authors found that 12del3ins and I66M + I289V, which had been identified only in Japanese individuals to date, accounted for 37% of the mutant alleles; with 2 additional mutations, G270D and T652P, these accounted for up to 57% of mutations in Japanese patients. <a href="#68" class="mim-tip-reference" title="Xu, C., Sakai, N., Taniike, M., Inui, K., Ozono, K. <strong>Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.</strong> J. Hum. Genet. 51: 548-554, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16607461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16607461</a>] [<a href="https://doi.org/10.1007/s10038-006-0396-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16607461">Xu et al. (2006)</a> observed a tendency for the I66M + I289V, G270D, and L618S mutations to be associated with a mild phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16607461" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a retrospective analysis of 26 patients with Krabbe disease, <a href="#15" class="mim-tip-reference" title="Fiumara, A., Barone, R., Arena, A., Filocamo, M., Lissens, W., Pavone, L., Sorge, G. <strong>Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G-A (p.gly41ser) mutation.</strong> Clin. Genet. 80: 452-458, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21070211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21070211</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01572.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21070211">Fiumara et al. (2011)</a> found that 17 (66%) had the late-onset form, including 6 with late-infantile, 9 with early juvenile, and 2 with adult onset. Fourteen of the patients came from the same area of Sicily, north of Catania. Molecular studies showed that 4 patients were homozygous for a founder G41S mutation (<a href="/entry/606890#0010">606890.0010</a>), and 4 were compound heterozygous for G41S and another mutation. There was no correlation between age at onset, disease severity, genotype, and GALC enzyme activity, which ranged from 1 to 6% among those homozygous for G41S. However, considering the whole study, presence of the G41S mutation was associated with a more protracted disease course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21070211" 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 somewhat similar disorder was described in 3 adult sibs by <a href="#14" class="mim-tip-reference" title="Ferraro, A. <strong>Familial form of encephalitis periaxialis diffusa.</strong> J. Nerv. Ment. Dis. 66: 329-354, 1927."None>Ferraro (1927)</a>, but this may be a genetically distinct condition. See discussion of <a href="#38" class="mim-tip-reference" title="Menkes, J. H. <strong>Metabolic disease of the nervous system. In: Brennemann, J.: Practice of Pediatrics. Vol. 4.</strong> Hagerstown: W. F. Prior Co. (pub.) 1963."None>Menkes (1963)</a> and of <a href="#40" class="mim-tip-reference" title="Norman, R. M., Oppenheimer, D. R., Tingey, A. H. <strong>Histological and chemical findings in Krabbe's leucodystrophy.</strong> J. Neurol. Neurosurg. Psychiat. 24: 223-232, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13729573/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13729573</a>] [<a href="https://doi.org/10.1136/jnnp.24.3.223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13729573">Norman et al. (1961)</a>. <a href="#30" class="mim-tip-reference" title="Korn-Lubetzki, I., Nevo, Y. <strong>Infantile Krabbe disease.</strong> Arch. Neurol. 60: 1643-1644, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14623741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14623741</a>] [<a href="https://doi.org/10.1001/archneur.60.11.1643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14623741">Korn-Lubetzki and Nevo (2003)</a> provided an interesting history of the first descriptions of Krabbe disease by <a href="#31" class="mim-tip-reference" title="Krabbe, K. <strong>A new familial infantile form of diffuse brain-sclerosis.</strong> Brain 39: 74-114, 1916."None>Krabbe (1916)</a> and others. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13729573+14623741" 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="#10" class="mim-tip-reference" title="Duchen, L. W., Eicher, E. M., Jacobs, J. M., Scaravilli, F., Teixeira, F. <strong>Hereditary leucodystrophy in the mouse: the new mutant twitcher.</strong> Brain 103: 695-710, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7417782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7417782</a>] [<a href="https://doi.org/10.1093/brain/103.3.695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7417782">Duchen et al. (1980)</a> described an autosomal recessive leukodystrophy of the mouse, 'twitcher,' which is very similar histopathologically and may be homologous. <a href="#27" class="mim-tip-reference" title="Kobayashi, T., Yamanaka, T., Jacobs, J. M., Teixeira, F., Suzuki, K. <strong>The twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease).</strong> Brain Res. 202: 479-483, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7437911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7437911</a>] [<a href="https://doi.org/10.1016/0006-8993(80)90159-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7437911">Kobayashi et al. (1980)</a> demonstrated that the 'twitcher' mouse is an enzymatically authentic model of human GLD, as are disorders in sheep and dog. <a href="#26" class="mim-tip-reference" title="Igisu, H., Suzuki, K. <strong>Progressive accumulation of toxic metabolite in a genetic leukodystrophy.</strong> Science 224: 753-755, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6719111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6719111</a>] [<a href="https://doi.org/10.1126/science.6719111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6719111">Igisu and Suzuki (1984)</a> studied the 'twitcher' mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6719111+7417782+7437911" 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="#25" class="mim-tip-reference" title="Ichioka, T., Kishimoto, Y., Brennan, S., Santos, G. W., Yeager, A. M. <strong>Hematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): effects on levels of galactosylceramidase, psychosine, and galactocerebrosides.</strong> Proc. Nat. Acad. Sci. 84: 4259-4263, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2884662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2884662</a>] [<a href="https://doi.org/10.1073/pnas.84.12.4259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2884662">Ichioka et al. (1987)</a> studied the effects of bone marrow transplantation in the twitcher mouse. <a href="#22" class="mim-tip-reference" title="Hoogerbrugge, P. M., Poorthuis, B. J. H. M., Romme, A. E., van de Kamp, J. J. P., Wagemaker, G., van Bekkum, D. W. <strong>Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse.</strong> J. Clin. Invest. 81: 1790-1794, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3290253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3290253</a>] [<a href="https://doi.org/10.1172/JCI113521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3290253">Hoogerbrugge et al. (1988)</a> showed that transplantation of enzymatically normal congenic bone marrow in the twitcher mouse results in increased galactosylceramidase levels in the CNS. There was a gradual disappearance of globoid cells, the histologic hallmark of Krabbe disease, and the appearance of foamy macrophages capable of metabolizing the storage product. By immunohistochemical labeling, it was shown that these macrophages in the CNS were of donor origin. Extensive remyelination was observed in the CNS. In further studies, <a href="#22" class="mim-tip-reference" title="Hoogerbrugge, P. M., Poorthuis, B. J. H. M., Romme, A. E., van de Kamp, J. J. P., Wagemaker, G., van Bekkum, D. W. <strong>Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse.</strong> J. Clin. Invest. 81: 1790-1794, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3290253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3290253</a>] [<a href="https://doi.org/10.1172/JCI113521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3290253">Hoogerbrugge et al. (1988)</a> found that bone marrow transplantation in the twitcher mouse resulted in an increase in the galactosylceramidase activity in the CNS to 15% of normal donor levels with a prevention of paralysis of the hind legs and a prolonged survival from 30-40 days to more than 100 days in some instances. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2884662+3290253" 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 addition to the 'twitcher' mouse, West Highland white terriers and Cairn terriers have a naturally occurring form of Krabbe disease (<a href="#61" class="mim-tip-reference" title="Victoria, T., Rafi, M. A., Wenger, D. A. <strong>Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers.</strong> Genomics 33: 457-462, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661004</a>] [<a href="https://doi.org/10.1006/geno.1996.0220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661004">Victoria et al., 1996</a>). <a href="#67" class="mim-tip-reference" title="Wenger, D. A., Victoria, T., Rafi, M. A., Luzi, P., Vanier, M. T., Vite, C., Patterson, D. F., Haskins, M. H. <strong>Globoid cell leukodystrophy in Cairn and West Highland white terriers.</strong> J. Hered. 90: 138-142, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9987921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9987921</a>] [<a href="https://doi.org/10.1093/jhered/90.1.138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9987921">Wenger et al. (1999)</a> showed successful transduction of cultured skin fibroblasts from a West Highland white terrier with GLD and normal canine bone marrow, using a retroviral vector containing the human GALC cDNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9987921+8661004" 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="#55" class="mim-tip-reference" title="Tohyama, J., Vanier, M. T., Suzuki, K., Ezoe, T., Matsuda, J., Suzuki, K. <strong>Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency).</strong> Hum. Molec. Genet. 9: 1699-1707, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861297</a>] [<a href="https://doi.org/10.1093/hmg/9.11.1699" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10861297">Tohyama et al. (2000)</a> crossbred twitcher mice with acid beta-galactosidase knockout mice (GM1-gangliosidosis; <a href="/entry/230500">230500</a>) and found that the acid beta-galactosidase gene dosage exerts an unexpected and paradoxical influence on the twitcher phenotype. Twitcher mice with an additional complete deficiency of acid beta-galactosidase (galc-/-, bgal-/-) had the mildest phenotype among twitcher mice of all genotypes, with the longest life span and nearly rescued central nervous system pathology. In contrast, twitcher mice with a single functional acid beta-galactosidase gene (galc-/-, bgal+/-) had the most severe disease, with the shortest life span and brain levels of psychosine even higher than those of twitcher mice. The double knockout mice showed a massive accumulation of lactosylceramide in all tissues as expected, but only a half-normal amount of galactosylceramide in brain. The authors hypothesized that the acid beta-galactosidase gene may function as a modifier gene for the phenotypic expression of galactosylceramidase deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861297" 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="#Andrews1971" class="mim-tip-reference" title="Andrews, J. M., Cancilla, P. A., Grippo, J., Menkes, J. H. <strong>Globoid cell leukodystrophy (Krabbe's disease): morphological and biochemical studies.</strong> Neurology 21: 337-352, 1971.">Andrews et al. (1971)</a>; <a href="#Austin1970" class="mim-tip-reference" title="Austin, J., Suzuki, K., Armstrong, D., Brady, R. O., Bachhawat, B. K., Schlenker, J., Stumpf, D. A. <strong>Studies in globoid (Krabbe) leukodystrophy (gld). V. Controlled enzymic studies in ten human cases.</strong> Arch. Neurol. 23: 502-512, 1970.">Austin et al. (1970)</a>; <a href="#Austin1963" class="mim-tip-reference" title="Austin, J. <strong>Studies in globoid (Krabbe) leukodystrophy. I. The significance of lipid abnormalities in white matter in 8 globoid and 13 control patients.</strong> Arch. Neurol. 9: 207-231, 1963.">Austin (1963)</a>; <a href="#Eto1983" class="mim-tip-reference" title="Eto, Y., Umezawa, F., Kasai, E., Ida, I., Maekawa, K. M. <strong>Biochemical studies in mouse Krabbe's disease (Twitcher).</strong> J. Inherit. Metab. Dis. 6: 125-126, 1983.">Eto et
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al. (1983)</a>; <a href="#Farrell1973" class="mim-tip-reference" title="Farrell, D. F., Percy, A. K., Kaback, M. M., McKhann, G. M. <strong>Globoid cell (Krabbe) leukodystrophy: heterozygote detection in cultured skin fibroblasts.</strong> Am. J. Hum. Genet. 25: 604-609, 1973.">Farrell et al. (1973)</a>; <a href="#Hoogerbrugge1988" class="mim-tip-reference" title="Hoogerbrugge, P. M., Suzuki, K., Suzuki, K., Poorthuis, B. J. H. M., Kobayashi, T., Wagemaker, G., van Bekkum, D. W. <strong>Donor-derived cells in the central nervous system of twitcher mice after bone marrow transplantation.</strong> Science 239: 1035-1038, 1988.">Hoogerbrugge et al. (1988)</a>; <a href="#Lieberman1980" class="mim-tip-reference" title="Lieberman, J. S., Oshtory, M., Taylor, R. G., Dreyfus, P. M. <strong>Perinatal neuropathy as an early manifestation of Krabbe's disease.</strong> Arch. Neurol. 37: 446-447, 1980.">Lieberman et al. (1980)</a>; <a href="#Petersen1978" class="mim-tip-reference" title="Petersen, E. M., Nelson, M. M., Thomson, A. J., Coetzee, E. J., Besley, G. T. N., Bain, A. D. <strong>Krabbe's disease in an infant and her fetal sibling.</strong> S. Afr. Med. J. 54: 168-170, 1978.">Petersen et al. (1978)</a>; <a href="#Svennerholm1981" class="mim-tip-reference" title="Svennerholm, L., Vanier, M.-T., Hakansson, G., Mansson, J.-E. <strong>Use of leukocytes in diagnosis of Krabbe disease and detection of carriers.</strong> Clin. Chim. Acta 112: 333-342, 1981.">Svennerholm et al.
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(1981)</a>; <a href="#Tsutsumi1982" class="mim-tip-reference" title="Tsutsumi, O., Satoh, K., Sakamoto, S., Suzuki, Y., Kato, T. <strong>Application of a galactosylceramidase microassay method to early prenatal diagnosis of Krabbe's disease.</strong> Clin. Chim. Acta 125: 265-273, 1982.">Tsutsumi et al. (1982)</a>; <a href="#Vanier1981" class="mim-tip-reference" title="Vanier, M. T., Svennerholm, L., Mansson, J.-E., Hakansson, G., Boue, A., Lindsten, J. <strong>Prenatal diagnosis of Krabbe disease.</strong> Clin. Genet. 20: 79-89, 1981.">Vanier et al. (1981)</a>; <a href="#Wenger1974" class="mim-tip-reference" title="Wenger, D. A., Sattler, M., Hiatt, W. <strong>Globoid cell leukodystrophy: deficiency of lactosyl ceramide beta-galactosidase.</strong> Proc. Nat. Acad. Sci. 71: 854-857, 1974.">Wenger et al.
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(1974)</a>; <a href="#Zlotogora1991" class="mim-tip-reference" title="Zlotogora, J., Levy-Lahad, E., Legum, C., Iancu, T. C., Zeigler, M., Bach, G. <strong>Krabbe disease in Israel.</strong> Isr. J. Med. Sci. 27: 196-198, 1991.">Zlotogora et al. (1991)</a>
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Andrews, J. M., Cancilla, P. A., Grippo, J., Menkes, J. H.
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<strong>Globoid cell leukodystrophy (Krabbe's disease): morphological and biochemical studies.</strong>
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Neurology 21: 337-352, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4324265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4324265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4324265" 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.21.4.329-a" target="_blank">Full Text</a>]
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Arroyo, H. A., Grippo, J., Taratuto, A., Duffau, J., Chamoles, N.
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<strong>Krabbe disease in monozygotic triplets.</strong>
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Dev. Med. Child Neurol. 33: 1101-1103, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1778346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1778346</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1778346" 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.1469-8749.1991.tb14833.x" target="_blank">Full Text</a>]
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Austin, J., Suzuki, K., Armstrong, D., Brady, R. O., Bachhawat, B. K., Schlenker, J., Stumpf, D. A.
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<strong>Studies in globoid (Krabbe) leukodystrophy (gld). V. Controlled enzymic studies in ten human cases.</strong>
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Arch. Neurol. 23: 502-512, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5478272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5478272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5478272" 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/10.1001/archneur.1970.00480300024003" target="_blank">Full Text</a>]
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Austin, J.
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<strong>Studies in globoid (Krabbe) leukodystrophy. I. The significance of lipid abnormalities in white matter in 8 globoid and 13 control patients.</strong>
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Arch. Neurol. 9: 207-231, 1963.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14049395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14049395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14049395" 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/10.1001/archneur.1963.00460090013001" target="_blank">Full Text</a>]
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Bachhawat, B. K., Austin, J., Armstrong, D.
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<strong>A cerebroside sulphotransferase deficiency in a human disorder of myelin.</strong>
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Biochem. J. 104: 15C-17C, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4860468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4860468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4860468" 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/10.1042/bj1040015c" target="_blank">Full Text</a>]
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Cannizzaro, L. A., Chen, Y. Q., Rafi, M. A., Wenger, D. A.
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<strong>Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization.</strong>
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Cytogenet. Cell Genet. 66: 244-245, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8162701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8162701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8162701" 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/10.1159/000133703" target="_blank">Full Text</a>]
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Crome, L., Hanefeld, F., Patrick, D., Wilson, J.
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<strong>Late onset globoid cell leucodystrophy.</strong>
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[<a href="https://doi.org/10.1007/BF00210679" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.6719111" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0006-8993(80)90159-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000112166" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.60.11.1643" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJM199804163381605" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1980.00500560076012" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000112167" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/GIM.0b013e318211a7e1" target="_blank">Full Text</a>]
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Wenger, D. A., Louie, E.
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<strong>Pseudodeficiencies of arylsulfatase A and galactocerebrosidase activities.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1687777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1687777</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1687777" 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/10.1159/000112163" target="_blank">Full Text</a>]
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Wenger, D. A., Rafi, M. A., Luzi, P., Datto, J., Costantino-Ceccarini, E.
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<strong>Krabbe disease: genetic aspects and progress toward therapy.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10833326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10833326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10833326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/mgme.2000.2990" target="_blank">Full Text</a>]
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Wenger, D. A., Rafi, M. A., Luzi, P.
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<strong>Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.</strong>
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Hum. Mutat. 10: 268-279, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9338580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9338580</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9338580" 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/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D" target="_blank">Full Text</a>]
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Wenger, D. A., Sattler, M., Hiatt, W.
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<strong>Globoid cell leukodystrophy: deficiency of lactosyl ceramide beta-galactosidase.</strong>
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Proc. Nat. Acad. Sci. 71: 854-857, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4522795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4522795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4522795" 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/10.1073/pnas.71.3.854" target="_blank">Full Text</a>]
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Wenger, D. A., Victoria, T., Rafi, M. A., Luzi, P., Vanier, M. T., Vite, C., Patterson, D. F., Haskins, M. H.
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<strong>Globoid cell leukodystrophy in Cairn and West Highland white terriers.</strong>
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J. Hered. 90: 138-142, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9987921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9987921</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9987921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Xu, C., Sakai, N., Taniike, M., Inui, K., Ozono, K.
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<strong>Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.</strong>
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J. Hum. Genet. 51: 548-554, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16607461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16607461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16607461" 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/s10038-006-0396-3" target="_blank">Full Text</a>]
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Young, E., Wilson, J., Patrick, A. D., Crome, L.
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<strong>Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset.</strong>
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Arch. Dis. Child. 47: 449-450, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5034675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5034675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5034675" 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/10.1136/adc.47.253.449" target="_blank">Full Text</a>]
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Zlotogora, J., Chakraborty, S., Knowlton, R. G., Wenger, D. A.
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<strong>Krabbe disease locus mapped to chromosome 14 by genetic linkage.</strong>
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Am. J. Hum. Genet. 47: 37-44, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971996</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1971996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Zlotogora, J., Cohen, T.
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<strong>Krabbe disease and protruding ears. (Letter)</strong>
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Am. J. Med. Genet. 28: 759-760, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3425640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3425640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3425640" 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.1320280328" target="_blank">Full Text</a>]
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Zlotogora, J., Levy-Lahad, E., Legum, C., Iancu, T. C., Zeigler, M., Bach, G.
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<strong>Krabbe disease in Israel.</strong>
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Isr. J. Med. Sci. 27: 196-198, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2010272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2010272</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2010272" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Zlotogora, J., Regev, R., Zeigler, M., Iancu, T. C., Bach, G.
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<strong>Krabbe disease: increased incidence in a highly inbred community.</strong>
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Am. J. Med. Genet. 21: 765-770, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4025402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4025402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4025402" 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.1320210420" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 08/25/2022
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Hilary J. Vernon - updated : 06/23/2022<br>Ada Hamosh - updated : 10/3/2012<br>Cassandra L. Kniffin - updated : 10/27/2011<br>Cassandra L. Kniffin - updated : 7/26/2007<br>Marla J. F. O'Neill - updated : 12/12/2006<br>Victor A. McKusick - updated : 6/1/2005<br>Cassandra L. Kniffin - updated : 2/14/2005<br>Cassandra L. Kniffin - updated : 2/6/2004<br>Cassandra L. Kniffin - reorganized : 5/1/2002<br>Cassandra L. Kniffin - updated : 5/1/2002<br>George E. Tiller - updated : 9/19/2000<br>Ada Hamosh - updated : 7/20/2000<br>Ada Hamosh - updated : 6/28/2000<br>Ada Hamosh - edited : 1/28/2000<br>Victor A. McKusick - updated : 3/2/1999<br>Clair A. Francomano - updated : 5/7/1998<br>Clair A. Francomano - updated : 5/7/1998<br>Victor A. McKusick - updated : 4/8/1998<br>Victor A. McKusick - updated : 2/12/1998<br>Victor A. McKusick - updated : 10/13/1997<br>Moyra Smith - updated : 1/31/1997<br>Mark H. Paalman - edited : 6/4/1996<br>Alan F. Scott - updated : 10/11/1995
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Victor A. McKusick : 6/3/1986
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carol : 08/26/2022
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carol : 08/25/2022<br>carol : 06/29/2022<br>carol : 06/27/2022<br>carol : 06/24/2022<br>carol : 06/23/2022<br>carol : 10/22/2021<br>carol : 10/14/2016<br>carol : 01/08/2013<br>alopez : 10/3/2012<br>carol : 7/3/2012<br>carol : 4/6/2012<br>carol : 10/28/2011<br>ckniffin : 10/27/2011<br>terry : 7/20/2011<br>terry : 7/19/2011<br>wwang : 7/7/2011<br>ckniffin : 6/22/2011<br>carol : 10/1/2007<br>wwang : 8/1/2007<br>ckniffin : 7/26/2007<br>wwang : 12/14/2006<br>terry : 12/12/2006<br>terry : 10/12/2005<br>wwang : 6/13/2005<br>terry : 6/9/2005<br>wwang : 6/3/2005<br>terry : 6/1/2005<br>wwang : 2/23/2005<br>ckniffin : 2/14/2005<br>tkritzer : 2/11/2004<br>ckniffin : 2/6/2004<br>carol : 1/10/2003<br>carol : 5/1/2002<br>carol : 5/1/2002<br>ckniffin : 5/1/2002<br>ckniffin : 4/30/2002<br>ckniffin : 4/30/2002<br>alopez : 9/19/2000<br>mcapotos : 8/1/2000<br>mcapotos : 7/26/2000<br>terry : 7/20/2000<br>carol : 6/28/2000<br>joanna : 1/28/2000<br>carol : 5/24/1999<br>carol : 3/4/1999<br>terry : 3/2/1999<br>dkim : 12/16/1998<br>terry : 6/18/1998<br>joanna : 5/15/1998<br>dholmes : 5/7/1998<br>dholmes : 5/7/1998<br>alopez : 4/8/1998<br>terry : 3/25/1998<br>mark : 2/18/1998<br>terry : 2/12/1998<br>jenny : 10/21/1997<br>terry : 10/13/1997<br>terry : 6/16/1997<br>mark : 1/31/1997<br>jamie : 1/16/1997<br>jamie : 1/16/1997<br>mark : 1/3/1997<br>mark : 6/7/1996<br>mark : 6/4/1996<br>mark : 6/4/1996<br>mark : 6/4/1996<br>terry : 5/30/1996<br>terry : 4/17/1996<br>mark : 3/4/1996<br>mark : 3/4/1996<br>mark : 3/4/1996<br>terry : 2/20/1996<br>mark : 1/5/1996<br>mark : 1/4/1996<br>mark : 9/7/1995<br>davew : 8/17/1994<br>jason : 6/28/1994<br>warfield : 4/15/1994<br>carol : 4/11/1994
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<h3>
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<span class="mim-font">
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KRABBE DISEASE; KRB
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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GLOBOID CELL LEUKODYSTROPHY; GLD; GCL<br />
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GLOBOID CELL LEUKOENCEPHALOPATHY<br />
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GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY<br />
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GALACTOCEREBROSIDASE DEFICIENCY<br />
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GALC DEFICIENCY
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</h4>
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<strong>SNOMEDCT:</strong> 189979005, 192782005;
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<strong>ICD10CM:</strong> E75.23;
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<strong>ORPHA:</strong> 206436, 206443, 206448, 487;
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<strong>DO:</strong> 10587;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<td>
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<span class="mim-font">
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14q31.3
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</td>
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<td>
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<span class="mim-font">
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Krabbe disease
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</td>
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<td>
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<span class="mim-font">
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245200
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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GALC
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</span>
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</td>
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<td>
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<span class="mim-font">
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606890
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</span>
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</tr>
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</tbody>
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Krabbe disease (KRB) is caused by homozygous or compound heterozygous mutation in the galactosylceramidase gene (GALC; 606890) on chromosome 14q31.</p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Description</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>Krabbe disease (KRB) is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010). </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p><strong><em>Infantile Form</em></strong></p><p>
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Hofman et al. (1987) described cherry red spots in an infant with Krabbe disease who died at age 18 months. Spots were subtle but evident at age 13 months and became prominent at 17 months. Zlotogora and Cohen (1987) pointed to protruding ears as a dysmorphic feature of Krabbe disease. Their report concerned a total of 11 affected children seen in Israel, all of Arab origin and 4 from related Druze families. Lyon et al. (1991) reviewed 50 cases. </p><p>Tappino et al. (2010) reported 30 unrelated patients with Krabbe disease ascertained over a 30-year period. Twenty-one patients had the infantile form, with onset between 1 and 5 months of age. Four patients had onset between 8 and 11 months, 4 had onset around 4 years of age, and 1 had adult onset at age 26 years. Those with the infantile and late-infantile forms presented with psychomotor regression, muscular hypertonia and spasticity, truncal hypotonia, and irritability; 2 had seizures, and 2 had nystagmus. Brain imaging, when performed, showed white matter changes and/or hypomyelination, and 6 patients had calcifications. Peripheral nerve conduction velocities were slowed. Residual GALC enzyme activity ranged from 0 to 22% of normal. </p><p>In a retrospective analysis of 26 Italian or Tunisian patients with Krabbe disease, Fiumara et al. (2011) found that 9 (34%) had the classic early infantile form with onset before age 6 months. All but 1 were born of consanguineous parents; family history of another child adopted from Brazil was not available. All presented between 2 and 5 months of age with unprovoked inconsolable crying, opisthotonus, and hemiplegia. There was rapid progressive motor deterioration with generalized hypertonia and hyperreflexia. Four patients had horizontal nystagmus, 7 had optic nerve atrophy, and 4 had seizures. Brain MRI showed symmetric cerebral and cerebellar demyelination, as well as changes in the basal nuclei and corpus callosum. Generalized brain atrophy with dilatation of the ventricles and subarachnoid spaces was evident later over the course of the disease. GALC activity levels ranged between 0.39 and 5.8% of normal. Death occurred between 6 and 29 months of age. </p><p><strong><em>Late-Onset Form</em></strong></p><p>
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Suzuki (1972) described 2 patients with morphologically and enzymatically proven Krabbe disease who survived into childhood and into the teens. Crome et al. (1973) also described a 'late-onset' variety. </p><p>From complementation studies by somatic cell hybridization, Loonen et al. (1985) concluded that the early infantile and later onset forms of GLD are allelic. They proposed that there are 2 later onset forms: a late infantile or early childhood form, and a late childhood or juvenile form. </p><p>Kolodner (1989) described several cases with a later onset, the oldest case in his experience being that of an 84-year-old woman. Phelps et al. (1991) reported 4 cases with later onset--at ages 4 years and 9 months, 8 years, 5 years, and 5 years. Two of the patients were sibs; the 2 others were each born of a consanguineous mating. One of the patients, although showing minor abnormalities at age 5, was not evaluated medically until the age of 16 and was still working as a baker at the age of 19 years. </p><p>Verdru et al. (1991) described globoid cell leukodystrophy in a 19-year-old daughter of consanguineous parents. Clinical examination showed postural tremor of the right upper limb, pyramidal paresis of the left lower limb, and extensive plantar responses bilaterally. There were no signs of peripheral nerve involvement or intellectual impairment when she was first seen. By 9 months later, however, the signs had progressed and there was clinical evidence of peripheral nerve involvement. The patient had almost complete deficiency of galactosylceramide beta-galactosidase. A brother had had normal psychomotor development until the age of 14 months, when he began to have a toppling gait. He became progressively spastic and blind, developed seizures, and died at the age of 4 years. </p><p>Kolodny et al. (1991) reviewed the clinical and biochemical features of 15 cases of late-onset Krabbe disease. Turazzini et al. (1997) described 2 brothers with adult-onset Krabbe disease. A 39-year-old man presented with a 2-year history of persisting unsteadiness of gait with weakness of the legs. A younger brother, 29 years old, was asymptomatic but showed tetra-hyperreflexia with bilateral ankle clonus. Both brothers showed MRI changes of demyelination in the white matter of the brain, while nerve conduction was completely normal. Both patients showed deficiency of galactosylceramide beta-galactosidase comparable to that found in the infantile form. </p><p>Tappino et al. (2010) reported that 3 of 4 patients with juvenile onset presented with gait disturbances and frequent falls due to spasticity and ataxia, and the fourth presented with decreased visual acuity. Brain imaging showed white matter changes, and 2 had decreased peripheral nerve conduction velocities. Residual GALC enzyme activity ranged from 0 to 13% of normal. One man presented at age 26 years with gait disturbances, frequent falls, and spasticity; he had 5% residual GALC enzyme activity. </p><p>In a retrospective analysis of 26 Italian or Tunisian patients with Krabbe disease, Fiumara et al. (2011) found that 17 (66%) had the late-onset form, including 6 with late infantile, 9 with early juvenile, and 2 with adult onset. Fourteen of the patients came from the same area of Sicily, north of Catania. Nine patients died between 6 and 12 years. The first signs were hemiplegia in 12 and visual impairment in 3, followed by rapid deterioration in motor abilities within 3 to 24 months. All patients showed white matter abnormalities at onset, affecting the parietooccipital areas, corpus callosum, and corticospinal tracts, with later involvement of the internal and external capsules, subcortical U fibers, pyramidal tracts, and brainstem. Four patients showed impairment of the auditory and visual evoked potentials. Six of 12 patients studied showed mixed demyelinating and axonal sensorimotor neuropathy. Molecular studies showed that 4 patients were homozygous for a founder G41S mutation (606890.0010), and 4 were compound heterozygous for G41S and another mutation. Three of those homozygous were alive in their forties, although significantly handicapped; 1 had onset at age 3 years and 2 had onset at age 23 years. The fourth homozygous patient had onset at age 4 years and was alive at age 27. There was no correlation between age at onset, disease severity, genotype, and GALC enzyme activity, which ranged from 1 to 6% among those homozygous for G41S. However, considering the whole study, presence of the G41S mutation was associated with a more protracted disease course. </p><p><strong><em>Neurophysiologic Studies</em></strong></p><p>
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Husain et al. (2004) reported neurophysiologic studies of 20 patients with early-onset Krabbe disease and 6 patients with late-onset Krabbe disease. Of early-onset patients, all had abnormal nerve conduction studies (NCS), 88% had abnormal brainstem auditory evoked potentials (BAEP), 65% had abnormal EEG, and 53% had abnormal flash visual evoked potentials (VEP). Of late-onset patients, 20% had abnormal nerve conduction studies, 40% had abnormal BAEP, 33% had abnormal EEG, and all had normal flash VEP. The abnormalities correlated well with disease severity measured by MRI. </p><p>Siddiqi et al. (2006) found that 25 of 27 children with Krabbe disease, aged 1 day to 8 years, showed abnormal motor and/or sensory nerve conduction studies with uniform slowing of conduction velocities. Motor and sensory responses were abnormal in 82% of patients. The severity of the demyelination on NCS correlated with clinical severity of the disease. There were no conduction blocks, indicating uniform rather than focal demyelination of peripheral nerves. Marked NCS abnormalities were found in a 1-day-old and 2 3-week-old neonates, indicating that peripheral neuropathy occurs very early in Krabbe disease and that nerves are likely affected even in intrauterine life. Siddiqi et al. (2006) concluded that nerve conduction studies are a sensitive tool to screen for Krabbe disease. In an accompanying paper, Siddiqi et al. (2006) found that nerve conduction studies improved in 7 (60%) of 12 patients after hematopoietic stem cell transplantation followed for an average of 18 months. However, some patients showed further decline after an initial improvement. There was greater improvement if the transplant was performed earlier in life. </p>
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</span>
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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>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>Krabbe disease is an autosomal recessive disorder. First-cousin parents were noted by Van Gehuchten (1956). Nelson et al. (1963) observed 3 affected sibs. Arroyo et al. (1991) described Krabbe disease in all 3 of monozygotic triplets. </p>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</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>Although deficiency of cerebroside-sulfatide sulfotransferase was earlier reported in Krabbe disease (Bachhawat et al., 1967), Suzuki and Suzuki (1970) found deficiency of galactocerebroside beta-galactosidase which they thought was etiologic and better accounted for the morphologic and biochemical features of the disorder. Suzuki and Suzuki (1971) demonstrated an intermediate level of activity of galactocerebroside beta-galactosidase in serum, white cells, and fibroblasts of heterozygotes. Young et al. (1972) found deficiency of the same enzyme, galactocerebrosidase, in a case with late onset. </p><p>In postmortem brain tissue from 4 infants with Krabbe disease, Hatton et al. (2022) identified accumulation of alpha-synuclein, particularly in globoid cells of the medulla oblongata, crus cerebri and cerebral cortex. In 2 cases, frozen brain tissue was available for aggregation testing, and the alpha-synuclein exhibited aggregation into fibrils, demonstrating prion-like capabilities. </p>
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</span>
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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>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>D'Agostino et al. (1963) concluded that the initial histologic manifestation of the disease is the presence of PAS-positive material extracellularly and cerithin in microglial cells, which later appear as globoid cells. Definitive diagnosis of this disorder, which clinically can be so similar to several other encephalopathies of infancy, is made by finding these characteristic 'globoid cells' in brain tissue (Martin et al., 1981). These cells, derived from monocyte-macrophage stem cells of the bone marrow, contain accumulated psychosine as well as galactosylceramide. </p><p><strong><em>Differential Diagnosis</em></strong></p><p>
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Wenger and Louie (1991) discussed pseudodeficiency of galactocerebrosidase comparable to the pseudodeficiency of arylsulfatase A (250100); both are hard to distinguish from the bona fide GALC deficiency which may signify a presymptomatic person who will present with adult-onset clinical disease. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Harzer et al. (1987) demonstrated the feasibility of prenatal enzymatic diagnosis using chorionic villi. Harzer and Schuster (1989) warned against the use of uncultured chorionic villi in the prenatal enzymatic diagnosis; this material is subject to uncontrolled contamination with maternal enzyme. </p>
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</span>
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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>Clinical Management</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>Krivit et al. (1998) reported on their experience using allogeneic hematopoietic stem cell transplantation in the treatment of Krabbe disease. They treated 5 children, 1 with the infantile type and 4 with late-onset disease. Four of the patients had clinical CNS abnormalities before transplantation. In all 4 cases, CNS deterioration was reversed. In the patient with the infantile form of the disease, the expected decline in CNS function had not occurred by the age of 16 months, 14 months posttransplantation. The authors concluded that CNS manifestations of Krabbe disease can be reversed or prevented by allogeneic hematopoietic stem cell transplantation. </p><p>Escolar et al. (2005) assessed the safety and efficacy of transplantation of umbilical cord blood from unrelated donors in 11 asymptomatic newborns and 14 symptomatic infants with infantile Krabbe disease. All were prepared with myeloablative chemotherapy. The rates of donor-cell engraftment and survival were 100% and 100%, respectively, among the asymptomatic newborns and 100% and 43%, respectively, among symptomatic infants. Surviving patients showed durable engraftment of donor-derived hematopoietic cells with restoration of normal blood galactocerebrosidase levels. Infants who underwent transplantation before the development of symptoms showed progressive central myelination and continued gains in developmental skills, and most had age-appropriate cognitive function and receptive language skills, but a few had mild to moderate delays in expressive language and mild to severe delays in gross motor function. Children who underwent transplantation after the onset of symptoms had minimal neurologic improvement. </p><p>Wang et al. (2011) described the ACMG standards and guidelines for the diagnostic confirmation and management of presymptomatic individuals with lysosomal storage diseases. </p><p>Thompson-Stone et al. (2021) reported recommendations from the Krabbe Disease Newborn Screening Council for follow-up of positive newborn screening. Infants with newborn screening showing low GALC activity and a high psychosine level (10 or higher nmol/L) were recommended to enter an early infantile Krabbe disease pathway with immediate family counseling and referral for disease modifying therapy such as hematopoietic stem cell transplantation. Infants with newborn screening showing low GALC activity and an intermediate level of psychosine (2 to less than 10 nmol/L) were recommended to enter an at-risk infantile Krabbe disease pathway with long-term follow-up and monitoring. Infants with newborn screening showing low GALC activity and normal psychosine levels were recommended to enter a low-risk pathway with some degree of follow-up based on additional testing or clinical findings. </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>Mapping</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>Studies by Zlotogora et al. (1990) showed that the Krabbe disease mutation is located on human chromosome 14. Zlotogora et al. (1990) undertook linkage analysis with RFLPs, focusing first on chromosome 17, based on a study by Lyerla et al. (1989). When no evidence of linkage was found there, they took advantage of the homology between the mouse and human chromosomes: the 'twitcher' mouse mutation results in an autosomal recessive leukodystrophy that is similar histopathologically to Krabbe disease (Duchen et al., 1980). Sweet (1986) found that the 'twitcher' locus is on mouse chromosome 12, a chromosome that has large regions of homology with human chromosome 14. A multipoint lod score of 3.40 was found with marker D14S24 (14q21-q31). Cannizzaro et al. (1994) mapped the GALC gene (606890) to chromosome 14q31. </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 a study in Catania in Sicily, Fiumara et al. (1990) found that 7 of 10 cases seen in a 12-year period were of the late infantile form, suggesting an unusually high frequency of the gene in Sicily. Of the 7 with the late infantile form, 2 were sibs born of first-cousin parents and 1 of the others was the product of a first-cousin marriage. </p><p>Zlotogora et al. (1985) found a frequency of 6 per 1,000 live births in a large Druze isolate in Israel. The isolate numbered about 8,000 persons. The Druze religion dates from the 11th century when it was founded in Egypt with subsequent expansion into Syria and Lebanon. </p><p>In 2 different inbred communities in Israel with Krabbe disease, Rafi et al. (1996) identified 2 different founder mutations in the GALC gene: 1 in a Moslem Arab population (606890.0003) and 1 in a Druze population (606890.0004). </p><p>Tappino et al. (2010) noted that the median prevalence of Krabbe disease is estimated to be about 1 in 100,000 (1.0 x 10(-5)) with wide variations between countries: 1.35 in the Netherlands, 1.21 in Portugal, 1.00 in Turkey, 0.71 in Australia, and 0.40 in Czech Republic. </p>
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</span>
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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>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sakai et al. (1994) identified homozygosity for a nonsense mutation in the GALC gene (606890.0001) in a patient with typical Krabbe disease. </p><p>Rafi et al. (1995) analyzed the GALC gene in 2 patients with infantile Krabbe disease and identified homozygosity for a 30-kb deletion (606890.0002) that was found to be associated with a 502C-T transition on the same allele, which they designated '502/del.' The transition was determined to be a polymorphism. Rafi et al. (1995) studied an additional 46 patients with infantile Krabbe disease and identified 8 who were homozygous for the 502/del allele and 5 who were compound heterozygotes for 502/del allele and a second mutant allele, including 3 missense mutations and 1 single nucleotide insertion, which had not yet been confirmed by expression studies. </p><p>De Gasperi et al. (1996) analyzed the GALC gene in 9 families with late-onset GLD and in 1 patient with classic Krabbe disease. They reported that 5 of the patients were compound heterozygotes for the deletion (606890.0002) first reported by Rafi et al. (1995) and another mutation in the GALC gene. Most of the novel mutations identified appeared to be private family mutations. </p><p>In a review of the molecular genetics of Krabbe disease, Wenger et al. (1997) stated that more than 40 mutations had been identified in patients with all clinical types of globoid cell leukodystrophy. </p><p>Among 30 unrelated Italian patients with Krabbe disease, Tappino et al. (2010) identified 33 different mutations in the GALC gene, including 14 novel mutations (see, e.g., 606890.0005-606890.0009). The 15 novel mutations included 4 missense mutations in highly conserved residues, 7 frameshift mutations, 3 nonsense mutations, and 1 splice site mutation. Thus, 73% of the newly described mutations were expected to affect mRNA processing. In silico analysis predicted that the missense mutations had a high probability of being deleterious. The common 30-kb deletion (606890.0002) accounted for 18% of mutant alleles, and 4 patients had a founder mutation (G553R; 606890.0005). Otherwise, most of the mutations were private. There were no clear genotype-phenotype correlations, but some missense mutations were associated with milder phenotypes (see, e.g., G286D; 606890.0008). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</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>De Gasperi et al. (1996) noted that it was not always possible to make conclusions about the phenotype from the genotype. Most difficult to explain was the phenotype of 5 late-onset patients who carried on both alleles mutations that completely abolished enzyme activity. They concluded that these observations point to the possibility that other genetic factors besides mutations in the galactocerebrosidase gene may contribute to the phenotype in late-onset GLD. Wenger et al. (1997) noted that some mutations clearly resulted in the infantile type if found in homozygous state or in compound heterozygous state with another severe mutation, but it is difficult to predict the phenotype of novel mutations or mutations found in apparent heterozygous state (when a second mutated allele has not been identified). A high frequency of polymorphic changes on apparent disease-causing alleles also complicated the interpretation of the effects of mutations. The molecular characterization of the naturally occurring mouse, dog, and monkey models will permit their use in therapeutic trials. </p><p>In a review of GALC mutations causing Krabbe disease, Furuya et al. (1997) found that those in the adult-onset form occurred in the N- or C-terminus, whereas those in the infantile form occurred in the central domain. </p><p>Xu et al. (2006) investigated mutations of the GALC gene in 17 unrelated Japanese patients with Krabbe disease and reviewed the mutations previously reported in 11 Japanese patients. The authors found that 12del3ins and I66M + I289V, which had been identified only in Japanese individuals to date, accounted for 37% of the mutant alleles; with 2 additional mutations, G270D and T652P, these accounted for up to 57% of mutations in Japanese patients. Xu et al. (2006) observed a tendency for the I66M + I289V, G270D, and L618S mutations to be associated with a mild phenotype. </p><p>In a retrospective analysis of 26 patients with Krabbe disease, Fiumara et al. (2011) found that 17 (66%) had the late-onset form, including 6 with late-infantile, 9 with early juvenile, and 2 with adult onset. Fourteen of the patients came from the same area of Sicily, north of Catania. Molecular studies showed that 4 patients were homozygous for a founder G41S mutation (606890.0010), and 4 were compound heterozygous for G41S and another mutation. There was no correlation between age at onset, disease severity, genotype, and GALC enzyme activity, which ranged from 1 to 6% among those homozygous for G41S. However, considering the whole study, presence of the G41S mutation was associated with a more protracted disease course. </p>
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</span>
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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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<span class="mim-text-font">
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<p>A somewhat similar disorder was described in 3 adult sibs by Ferraro (1927), but this may be a genetically distinct condition. See discussion of Menkes (1963) and of Norman et al. (1961). Korn-Lubetzki and Nevo (2003) provided an interesting history of the first descriptions of Krabbe disease by Krabbe (1916) and others. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</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>Duchen et al. (1980) described an autosomal recessive leukodystrophy of the mouse, 'twitcher,' which is very similar histopathologically and may be homologous. Kobayashi et al. (1980) demonstrated that the 'twitcher' mouse is an enzymatically authentic model of human GLD, as are disorders in sheep and dog. Igisu and Suzuki (1984) studied the 'twitcher' mouse. </p><p>Ichioka et al. (1987) studied the effects of bone marrow transplantation in the twitcher mouse. Hoogerbrugge et al. (1988) showed that transplantation of enzymatically normal congenic bone marrow in the twitcher mouse results in increased galactosylceramidase levels in the CNS. There was a gradual disappearance of globoid cells, the histologic hallmark of Krabbe disease, and the appearance of foamy macrophages capable of metabolizing the storage product. By immunohistochemical labeling, it was shown that these macrophages in the CNS were of donor origin. Extensive remyelination was observed in the CNS. In further studies, Hoogerbrugge et al. (1988) found that bone marrow transplantation in the twitcher mouse resulted in an increase in the galactosylceramidase activity in the CNS to 15% of normal donor levels with a prevention of paralysis of the hind legs and a prolonged survival from 30-40 days to more than 100 days in some instances. </p><p>In addition to the 'twitcher' mouse, West Highland white terriers and Cairn terriers have a naturally occurring form of Krabbe disease (Victoria et al., 1996). Wenger et al. (1999) showed successful transduction of cultured skin fibroblasts from a West Highland white terrier with GLD and normal canine bone marrow, using a retroviral vector containing the human GALC cDNA. </p><p>Tohyama et al. (2000) crossbred twitcher mice with acid beta-galactosidase knockout mice (GM1-gangliosidosis; 230500) and found that the acid beta-galactosidase gene dosage exerts an unexpected and paradoxical influence on the twitcher phenotype. Twitcher mice with an additional complete deficiency of acid beta-galactosidase (galc-/-, bgal-/-) had the mildest phenotype among twitcher mice of all genotypes, with the longest life span and nearly rescued central nervous system pathology. In contrast, twitcher mice with a single functional acid beta-galactosidase gene (galc-/-, bgal+/-) had the most severe disease, with the shortest life span and brain levels of psychosine even higher than those of twitcher mice. The double knockout mice showed a massive accumulation of lactosylceramide in all tissues as expected, but only a half-normal amount of galactosylceramide in brain. The authors hypothesized that the acid beta-galactosidase gene may function as a modifier gene for the phenotypic expression of galactosylceramidase deficiency. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Andrews et al. (1971); Austin et al. (1970); Austin (1963); Eto et
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al. (1983); Farrell et al. (1973); Hoogerbrugge et al. (1988);
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Lieberman et al. (1980); Petersen et al. (1978); Svennerholm et al.
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(1981); Tsutsumi et al. (1982); Vanier et al. (1981); Wenger et al.
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(1974); Zlotogora et al. (1991)
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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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<div>
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<ol>
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<strong>Globoid cell leukodystrophy (Krabbe's disease): morphological and biochemical studies.</strong>
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Farrell, D. F., Percy, A. K., Kaback, M. M., McKhann, G. M.
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Furuya, H., Kukita, Y., Nagano, S., Sakai, Y., Yamashita, Y., Fukuyama, H., Inatomi, Y., Saito, Y., Koike, R., Tsuji, S., Fukumaki, Y., Hayashi, K., Kobayashi, T.
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Harzer, K., Hager, H.-D., Tariverdian, G.
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Harzer, K., Schuster, I.
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Hum. Genet. 84: 83-85, 1989.
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<p class="mim-text-font">
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Hatton, C., Ghanem, S. S., Koss, D. J., Abdi, I. Y., Gibbons, E., Guerreiro, R., Bras, J., International DLB Genetics Consortium, Walker, L., Gelpi, E., Heywood, W., Outeiro, T. F., Attems, J., McFarland, R., Forsyth, R., El-Agnaf, O. M., Erskine, D.
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<strong>Prion-like alpha-synuclein pathology in the brain of infants with Krabbe disease.</strong>
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Brain 145: 1257-1263, 2022.
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[PubMed: 34999780]
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[Full Text: https://doi.org/10.1093/brain/awac002]
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<li>
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<p class="mim-text-font">
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Hofman, K. J., Naidu, S., Moser, H. W., Maumenee, I. H., Wenger, D. A.
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<strong>Cherry red spot in association with galactosylceramide-beta-galactosidase deficiency.</strong>
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J. Inherit. Metab. Dis. 10: 273-274, 1987.
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[PubMed: 3123790]
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[Full Text: https://doi.org/10.1007/BF01800078]
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<li>
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<p class="mim-text-font">
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Hoogerbrugge, P. M., Poorthuis, B. J. H. M., Romme, A. E., van de Kamp, J. J. P., Wagemaker, G., van Bekkum, D. W.
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<strong>Effect of bone marrow transplantation on enzyme levels and clinical course in the neurologically affected twitcher mouse.</strong>
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J. Clin. Invest. 81: 1790-1794, 1988.
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Verdru, P., Lammens, M., Dom, R., Van Elsen, A., Carton, H.
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Victoria, T., Rafi, M. A., Wenger, D. A.
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<strong>Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers.</strong>
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Genomics 33: 457-462, 1996.
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Wang, R. Y., Bodamer, O. A., Watson, M. S., Wilcox, W. R.
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<strong>Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.</strong>
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Genet. Med. 13: 457-484, 2011.
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Wenger, D. A., Louie, E.
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<strong>Pseudodeficiencies of arylsulfatase A and galactocerebrosidase activities.</strong>
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Dev. Neurosci. 13: 216-221, 1991.
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[PubMed: 1687777]
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[Full Text: https://doi.org/10.1159/000112163]
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Wenger, D. A., Rafi, M. A., Luzi, P., Datto, J., Costantino-Ceccarini, E.
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<strong>Krabbe disease: genetic aspects and progress toward therapy.</strong>
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Molec. Genet. Metab. 70: 1-9, 2000.
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[PubMed: 10833326]
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Wenger, D. A., Rafi, M. A., Luzi, P.
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<strong>Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.</strong>
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Hum. Mutat. 10: 268-279, 1997.
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)10:4<268::AID-HUMU2>3.0.CO;2-D]
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Wenger, D. A., Sattler, M., Hiatt, W.
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<strong>Globoid cell leukodystrophy: deficiency of lactosyl ceramide beta-galactosidase.</strong>
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Proc. Nat. Acad. Sci. 71: 854-857, 1974.
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[PubMed: 4522795]
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[Full Text: https://doi.org/10.1073/pnas.71.3.854]
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Wenger, D. A., Victoria, T., Rafi, M. A., Luzi, P., Vanier, M. T., Vite, C., Patterson, D. F., Haskins, M. H.
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<strong>Globoid cell leukodystrophy in Cairn and West Highland white terriers.</strong>
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J. Hered. 90: 138-142, 1999.
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[PubMed: 9987921]
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[Full Text: https://doi.org/10.1093/jhered/90.1.138]
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Xu, C., Sakai, N., Taniike, M., Inui, K., Ozono, K.
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<strong>Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.</strong>
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J. Hum. Genet. 51: 548-554, 2006.
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[PubMed: 16607461]
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[Full Text: https://doi.org/10.1007/s10038-006-0396-3]
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Young, E., Wilson, J., Patrick, A. D., Crome, L.
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<strong>Galactocerebrosidase deficiency in globoid cell leucodystrophy of late onset.</strong>
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Arch. Dis. Child. 47: 449-450, 1972.
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[PubMed: 5034675]
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[Full Text: https://doi.org/10.1136/adc.47.253.449]
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Zlotogora, J., Chakraborty, S., Knowlton, R. G., Wenger, D. A.
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<strong>Krabbe disease locus mapped to chromosome 14 by genetic linkage.</strong>
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Am. J. Hum. Genet. 47: 37-44, 1990.
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[PubMed: 1971996]
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Zlotogora, J., Cohen, T.
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<strong>Krabbe disease and protruding ears. (Letter)</strong>
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Am. J. Med. Genet. 28: 759-760, 1987.
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[PubMed: 3425640]
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[Full Text: https://doi.org/10.1002/ajmg.1320280328]
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Zlotogora, J., Levy-Lahad, E., Legum, C., Iancu, T. C., Zeigler, M., Bach, G.
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<strong>Krabbe disease in Israel.</strong>
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Isr. J. Med. Sci. 27: 196-198, 1991.
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[PubMed: 2010272]
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Zlotogora, J., Regev, R., Zeigler, M., Iancu, T. C., Bach, G.
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<strong>Krabbe disease: increased incidence in a highly inbred community.</strong>
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Am. J. Med. Genet. 21: 765-770, 1985.
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[PubMed: 4025402]
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[Full Text: https://doi.org/10.1002/ajmg.1320210420]
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Hilary J. Vernon - updated : 08/25/2022<br>Hilary J. Vernon - updated : 06/23/2022<br>Ada Hamosh - updated : 10/3/2012<br>Cassandra L. Kniffin - updated : 10/27/2011<br>Cassandra L. Kniffin - updated : 7/26/2007<br>Marla J. F. O'Neill - updated : 12/12/2006<br>Victor A. McKusick - updated : 6/1/2005<br>Cassandra L. Kniffin - updated : 2/14/2005<br>Cassandra L. Kniffin - updated : 2/6/2004<br>Cassandra L. Kniffin - reorganized : 5/1/2002<br>Cassandra L. Kniffin - updated : 5/1/2002<br>George E. Tiller - updated : 9/19/2000<br>Ada Hamosh - updated : 7/20/2000<br>Ada Hamosh - updated : 6/28/2000<br>Ada Hamosh - edited : 1/28/2000<br>Victor A. McKusick - updated : 3/2/1999<br>Clair A. Francomano - updated : 5/7/1998<br>Clair A. Francomano - updated : 5/7/1998<br>Victor A. McKusick - updated : 4/8/1998<br>Victor A. McKusick - updated : 2/12/1998<br>Victor A. McKusick - updated : 10/13/1997<br>Moyra Smith - updated : 1/31/1997<br>Mark H. Paalman - edited : 6/4/1996<br>Alan F. Scott - updated : 10/11/1995
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Victor A. McKusick : 6/3/1986
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