3627 lines
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Entry
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- #256850 - GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1
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- OMIM
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<p>
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<span class="h4">#256850</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/256850"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS256850"> <strong>Phenotypic Series</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="#mapping">Mapping</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE" 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="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=936&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1136/" 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/3042" 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/giant-axonal-neuropathy" 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=256850[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.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=643" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div 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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</span>
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</span>
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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:0090068" 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/256850" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=001150,001207" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 128207002<br />
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<strong>ORPHA:</strong> 643<br />
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<strong>DO:</strong> 0090068<br />
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">ICD+</a>
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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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256850
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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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GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1
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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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GAN
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="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>
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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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<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>
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Gene/Locus <br /> MIM number
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</th>
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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">
|
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<a href="/geneMap/16/677?start=-3&limit=10&highlight=677">
|
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16q23.2
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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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Giant axonal neuropathy-1
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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/256850"> 256850 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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GAN
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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/605379"> 605379 </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 ">
|
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<a href="/clinicalSynopsis/256850" 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')">
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<span class="caret"></span>
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<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">
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<a href="/phenotypicSeries/PS256850" class="btn btn-info" role="button"> Phenotypic Series </a>
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|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
|
</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/256850" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/256850" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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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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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95666008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95666008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.83</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/781.94" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.94</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
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|
|
|
|
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|
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|
|
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|
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|
|
|
|
|
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hand deformities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299033004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299033004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018564</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001155</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001155" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001155</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Foot deformities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229844004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229844004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span><br /> -
|
|
Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Pes planus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23407003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23407003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203534009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203534009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53226007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53226007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">734</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016202</a>, <a href="https://bioportal.bioontology.org/search?q=C0392477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392477</a>, <a href="https://bioportal.bioontology.org/search?q=C0264133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Planus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Talipes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</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> SKIN, NAILS, & HAIR </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> Hair </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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|
- Kinky hair (not a consistent finding) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850391&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850391</a>]</span><br /> -
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Curly hair (not a consistent finding) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850392</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/225570000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">225570000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002212</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">
|
|
<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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- Pyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14648003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14648003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span><br /> -
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Cerebellar signs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0742038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0742038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001317</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001317</a>]</span><br /> -
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Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
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Spastic paraplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192967009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192967009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037772</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001258</a>]</span><br /> -
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Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
|
|
Mental retardation (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br />
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|
</span>
|
|
</div>
|
|
</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Distal limb muscle weakness due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864696</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span><br /> -
|
|
Distal limb muscle atrophy due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br /> -
|
|
Proximal limb weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249939004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249939004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221629</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span><br /> -
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|
Hyporeflexia of the lower limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834696</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002600" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002600</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002600" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002600</a>]</span><br /> -
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|
Areflexia of the lower limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856694&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856694</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002522" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002522</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002522" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002522</a>]</span><br /> -
|
|
Hyporeflexia of the upper limbs (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836835</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012391</a>]</span><br /> -
|
|
Areflexia of the upper limbs (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674177&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674177</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012046</a>]</span><br /> -
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Sensory and motor axonal neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850389&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850389</a>]</span><br /> -
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Distal sensory impairment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847584</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span><br /> -
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Steppage gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27253007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27253007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003376</a>]</span><br /> -
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Giant axonal swellings filled with densely packed bundles of 10-nm neurofilaments seen on sural nerve biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232452</a>]</span><br /> -
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Thin myelin sheaths <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843178</a>]</span><br /> -
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Loss of myelinated fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858285&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858285</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003380" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003380</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003380" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003380</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in childhood<br /> -
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Slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
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Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
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Some patients may lose independent ambulation<br /> -
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See also autosomal dominant giant axonal neuropathy (<a href="/entry/610100">610100</a>)<br />
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</span>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the gigaxonin gene (GAN, <a href="/entry/605379#0001">605379.0001</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Giant axonal neuropathy
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- <a href="/phenotypicSeries/PS256850">PS256850</a>
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- 2 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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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">
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<a href="/geneMap/1/1314?start=-3&limit=10&highlight=1314"> 1q23.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610100"> ?Giant axonal neuropathy 2, autosomal dominant </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610100"> 610100 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615820"> DCAF8 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615820"> 615820 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/16/677?start=-3&limit=10&highlight=677"> 16q23.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/256850"> Giant axonal neuropathy-1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/256850"> 256850 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605379"> GAN </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605379"> 605379 </a>
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</span>
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</td>
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</tbody>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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</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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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that giant axonal neuropathy-1 (GAN1) is caused by homozygous or compound heterozygous mutation in the gigaxonin gene (GAN; <a href="/entry/605379">605379</a>) on chromosome 16q23.</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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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Giant axonal neuropathy is a chronic polyneuropathy of childhood that affects both the peripheral and central nervous systems and is accompanied by characteristically kinky hair and unique posture of legs (see illustrations by <a href="#4" class="mim-tip-reference" title="Berg, B. O., Rosenberg, S. H., Asbury, A. K. <strong>Giant axonal neuropathy.</strong> Pediatrics 49: 894-899, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4339350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4339350</a>]" pmid="4339350">Berg et al., 1972</a>; <a href="#16" class="mim-tip-reference" title="Igisu, H., Ohta, M., Tabira, T., Hosokawa, S., Goto, I., Kuroiwa, Y. <strong>Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system.</strong> Neurology 25: 717-721, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/168514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">168514</a>] [<a href="https://doi.org/10.1212/wnl.25.8.717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="168514">Igisu et al., 1975</a>; <a href="#9" class="mim-tip-reference" title="Carpenter, S., Karpati, G., Andermann, F., Gold, R. <strong>Giant axonal neuropathy: a clinically and morphologically distinct neurological disease.</strong> Arch. Neurol. 31: 312-316, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4153361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4153361</a>] [<a href="https://doi.org/10.1001/archneur.1974.00490410060005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4153361">Carpenter et al., 1974</a>). Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsy are the pathologic hallmark of this neurodegenerative disorder (<a href="#26" class="mim-tip-reference" title="Tazir, M., Nouioua, S., Magy, L., Huehne, K., Assami, S., Urtizberea, A., Grid, D., Hamadouche, T., Rautenstrauss, B., Vallat, J.-M. <strong>Phenotypic variability in giant axonal neuropathy.</strong> Neuromusc. Disord. 19: 270-274, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19231187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19231187</a>] [<a href="https://doi.org/10.1016/j.nmd.2009.01.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19231187">Tazir et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19231187+4153361+4339350+168514" 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>Genetic Heterogeneity of Giant Axonal Neuropathy</em></strong></p><p>
|
|
See also GAN2 (<a href="/entry/610100">610100</a>), caused by mutation in the DCAF8 gene (<a href="/entry/615820">615820</a>) on chromosome 1q23.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#9" class="mim-tip-reference" title="Carpenter, S., Karpati, G., Andermann, F., Gold, R. <strong>Giant axonal neuropathy: a clinically and morphologically distinct neurological disease.</strong> Arch. Neurol. 31: 312-316, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4153361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4153361</a>] [<a href="https://doi.org/10.1001/archneur.1974.00490410060005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4153361">Carpenter et al. (1974)</a> emphasized abnormality of the hair, which was strikingly curly and pale unlike that of his parents. Chemical analysis disclosed a decrease in disulfide bonds and an increase in thiol groups. Curly hair different from that of the parents, with peripheral neuropathy, seemed to suggest the diagnosis, which can be confirmed by specific changes on sural nerve biopsy: greatly enlarged axons packed with neurofilaments. <a href="#12" class="mim-tip-reference" title="Dooley, J. M., Oshima, Y., Becker, L. E., Murphy, E. G. <strong>Clinical progression of giant-axonal neuropathy over a twelve year period.</strong> Canad. J. Neurol. Sci. 8: 321-323, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7326612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7326612</a>] [<a href="https://doi.org/10.1017/s0317167100043456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7326612">Dooley et al. (1981)</a> described a 17-year-old girl who had been followed for 12 years. <a href="#25" class="mim-tip-reference" title="Tandan, R., Little, B. W., Emery, E. S., Good, P. S., Pendlebury, W. W., Bradley, W. G. <strong>Childhood giant axonal neuropathy: case report and review of the literature.</strong> J. Neurol. Sci. 82: 205-228, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2831308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2831308</a>] [<a href="https://doi.org/10.1016/0022-510x(87)90019-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2831308">Tandan et al. (1987)</a> described a 9-year-old girl with dense, characteristically frizzy scalp hair and long, curly eyelashes. In a 4-year-old girl with clinical and sural nerve biopsy findings typical of GAN, <a href="#27" class="mim-tip-reference" title="Treiber-Held, S., Budjarjo-Welim, H., Riemann, D., Richter, J., Kretzschmar, H. A., Hanefeld, F. <strong>Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair.</strong> Neuropediatrics 25: 89-93, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8072681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8072681</a>] [<a href="https://doi.org/10.1055/s-2008-1071592" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8072681">Treiber-Held et al. (1994)</a> found that the hairs showed longitudinal grooves on scanning electron microscopy. This finding had been described in 2 other patients. <a href="#27" class="mim-tip-reference" title="Treiber-Held, S., Budjarjo-Welim, H., Riemann, D., Richter, J., Kretzschmar, H. A., Hanefeld, F. <strong>Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair.</strong> Neuropediatrics 25: 89-93, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8072681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8072681</a>] [<a href="https://doi.org/10.1055/s-2008-1071592" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8072681">Treiber-Held et al. (1994)</a> presented a photograph of their patient in comparison with the first reported patient of <a href="#4" class="mim-tip-reference" title="Berg, B. O., Rosenberg, S. H., Asbury, A. K. <strong>Giant axonal neuropathy.</strong> Pediatrics 49: 894-899, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4339350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4339350</a>]" pmid="4339350">Berg et al. (1972)</a> and that of <a href="#9" class="mim-tip-reference" title="Carpenter, S., Karpati, G., Andermann, F., Gold, R. <strong>Giant axonal neuropathy: a clinically and morphologically distinct neurological disease.</strong> Arch. Neurol. 31: 312-316, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4153361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4153361</a>] [<a href="https://doi.org/10.1001/archneur.1974.00490410060005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4153361">Carpenter et al. (1974)</a>. They commented on remarkable similarity in facial appearance and head form with prominent high forehead. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4153361+4339350+2831308+8072681+7326612" 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 an inbred Tunisian kindred, <a href="#3" class="mim-tip-reference" title="Ben Hamida, M., Hentati, F., Ben Hamida, C. <strong>Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.</strong> Neurology 40: 245-250, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2153943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2153943</a>] [<a href="https://doi.org/10.1212/wnl.40.2.245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2153943">Ben Hamida et al. (1990)</a> described a form of giant axonal neuropathy without hair abnormalities. Affected individuals showed slow progression and an unusual clinical picture in which the sensorimotor neuropathy was associated with multisystem degeneration including a motor neuron syndrome. Three males and 3 females in 4 sibships were affected. The propositus, a 53-year-old man, presented with progressive infantile onset, distal amyotrophy of 4 limbs, brisk reflexes, diffuse fasciculations, bulbar signs, and deep sensory loss in both lower limbs. Muscle biopsy showed typical hypertrophic neuropathy. In 4 patients, there were giant axons filled with neurofilaments, with normal conduction velocity. The youngest patient, a 4-year-old girl (the abstract states that it was a boy), had mild neurologic deficit, and nerve biopsy showed only a few unmyelinated axons filled with neurofilaments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2153943" 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="Zemmouri, R., Azzedine, H., Assami, S., Kitouni, N., Vallat, J. M., Maisonobe, T., Hamadouche, T., Kessaci, M., Mansouri, B., Le Guern, E., Grid, D., Tazir, M. <strong>Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.</strong> Neuromusc. Disord. 10: 592-598, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11053687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11053687</a>] [<a href="https://doi.org/10.1016/s0960-8966(00)00141-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11053687">Zemmouri et al. (2000)</a> reported a large consanguineous Algerian family in which 4 patients had slowly progressive giant axonal neuropathy. Age at onset ranged from 6 to 10 years. The proband presented with a Charcot-Marie-Tooth type 2 (CMT2; <a href="/entry/118210">118210</a>)-like phenotype with foot deformity, distal amyotrophy of the lower limbs, areflexia, and distal sensory loss. The proband developed central nervous system involvement 10 years after onset with mild cerebellar dysarthria and nystagmus; the oldest patient developed spastic paraplegia 16 years after onset. MRI showed cerebellar atrophy in the 2 older patients. Nerve biopsy showed moderate axonal loss with several giant axons filled with neurofilaments. Linkage was found to chromosome 16q. In affected members of the family reported by <a href="#28" class="mim-tip-reference" title="Zemmouri, R., Azzedine, H., Assami, S., Kitouni, N., Vallat, J. M., Maisonobe, T., Hamadouche, T., Kessaci, M., Mansouri, B., Le Guern, E., Grid, D., Tazir, M. <strong>Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.</strong> Neuromusc. Disord. 10: 592-598, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11053687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11053687</a>] [<a href="https://doi.org/10.1016/s0960-8966(00)00141-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11053687">Zemmouri et al. (2000)</a>, <a href="#5" class="mim-tip-reference" title="Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M. <strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong> Nature Genet. 26: 370-374, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062483</a>] [<a href="https://doi.org/10.1038/81701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062483">Bomont et al. (2000)</a> identified a homozygous mutation in the GAN gene (<a href="/entry/605379#0006">605379.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11062483+11053687" 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="#20" class="mim-tip-reference" title="Nalini, A., Gayathri, N., Yasha, T. C., Ravishankar, S., Urtizberea, A., Huehne, K., Rautenstrauss, B. <strong>Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.</strong> Europ. J. Med. Genet. 51: 426-435, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18595793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18595793</a>] [<a href="https://doi.org/10.1016/j.ejmg.2008.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18595793">Nalini et al. (2008)</a> reported 2 Indian sibs, born of consanguineous parents, with classic features of autosomal recessive GAN. Both had a progressive severe motor and sensory neuropathy, cerebellar dysfunction, thick curly hair, and distended neurofilament-filled axonal swellings on sural nerve biopsy. Skin biopsy also showed characteristic giant axons. One patient had delayed psychomotor development and mental retardation. Both patients were homozygous for a truncation mutation in the GAN gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18595793" 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="#26" class="mim-tip-reference" title="Tazir, M., Nouioua, S., Magy, L., Huehne, K., Assami, S., Urtizberea, A., Grid, D., Hamadouche, T., Rautenstrauss, B., Vallat, J.-M. <strong>Phenotypic variability in giant axonal neuropathy.</strong> Neuromusc. Disord. 19: 270-274, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19231187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19231187</a>] [<a href="https://doi.org/10.1016/j.nmd.2009.01.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19231187">Tazir et al. (2009)</a> reported patients from 5 consanguineous Algerian families with autosomal recessive GAN. The mean age at onset was 5 years (range, 2 to 7). Four of the families had the same homozygous GAN mutation (R477X; <a href="/entry/605379#0008">605379.0008</a>). However, the phenotype was variable. Patients from 2 families with this mutation had the classic phenotype with kinky red hair, cerebellar ataxia, and peripheral motor and sensory neuropathy. Mental retardation was variable. A patient from another family had frizzy hair, spastic paraparesis with Babinski sign, facial diplegia, mental retardation, and minor clinical signs of neuropathy and cerebellar ataxia. The patient from the fourth family had a congenital neuropathy with mental retardation and a rapid and severe progression, but without abnormal hair. A patient from the fifth family with a different mutation (E169K; <a href="/entry/605379#0009">605379.0009</a>) had onset at age 3 years of weakness of the face and distal and proximal limbs. He also had short stature, foot and hand deformities, scoliosis, and sensory impairment. Mental retardation, spasticity, and kinky hair were not observed. <a href="#26" class="mim-tip-reference" title="Tazir, M., Nouioua, S., Magy, L., Huehne, K., Assami, S., Urtizberea, A., Grid, D., Hamadouche, T., Rautenstrauss, B., Vallat, J.-M. <strong>Phenotypic variability in giant axonal neuropathy.</strong> Neuromusc. Disord. 19: 270-274, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19231187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19231187</a>] [<a href="https://doi.org/10.1016/j.nmd.2009.01.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19231187">Tazir et al. (2009)</a> noted the clinical variability of giant axonal neuropathy, even among those with the same mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19231187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Buysse, K., Vergult, S., Mussche, S., Ceuterick-de Groote, C., Speleman, F., Menten, B., Lissens, W., Van Coster, R. <strong>Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.</strong> Am. J. Med. Genet. 152A: 2802-2804, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20949505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20949505</a>] [<a href="https://doi.org/10.1002/ajmg.a.33508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20949505">Buysse et al. (2010)</a> reported a boy, born of nonconsanguineous parents, with GAN. Delayed motor development was noted in the second half of the first year of life. He began to walk at age 24 months, but showed an awkward and unstable gait with areflexia. He had a large head and frizzy hair. EMG showed low action potential amplitudes, but nerve conduction velocities were normal. At age 3 years, brain MRI showed relatively large lateral ventricles, and he showed mild cognitive delay with a total IQ of 71. Skeletal muscle and skin biopsy performed at age 6 years showed dense intraaxonal accumulations of neurofilaments in some abnormally large myelinated axons and intermediate filament accumulations in some dermal fibroblasts. Array CGH identified an intragenic deletion in the GAN gene inherited from the mother and a point mutation in the GAN gene (E486K; <a href="/entry/605379#0001">605379.0001</a>) inherited from the father. <a href="#8" class="mim-tip-reference" title="Buysse, K., Vergult, S., Mussche, S., Ceuterick-de Groote, C., Speleman, F., Menten, B., Lissens, W., Van Coster, R. <strong>Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.</strong> Am. J. Med. Genet. 152A: 2802-2804, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20949505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20949505</a>] [<a href="https://doi.org/10.1002/ajmg.a.33508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20949505">Buysse et al. (2010)</a> noted that the deletion was found using high-resolution array CGH, and that the patient was initially erroneously thought to be homozygous for the point mutation. The findings illustrated the use of array CGH for proper molecular characterization and in the unmasking of a deletion as a recessive allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20949505" 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>Giant axonal neuropathy is an autosomal recessive disorder. Parental consanguinity was noted by <a href="#21" class="mim-tip-reference" title="Ouvrier, R. A., Prineas, J., Walsh, J. C., Reye, R. D. K., McLeod, J. G. <strong>Giant axonal neuropathy--a third case.</strong> Proc. Aust. Assoc. Neurol. 11: 137-144, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4377753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4377753</a>]" pmid="4377753">Ouvrier et al. (1974)</a>, <a href="#16" class="mim-tip-reference" title="Igisu, H., Ohta, M., Tabira, T., Hosokawa, S., Goto, I., Kuroiwa, Y. <strong>Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system.</strong> Neurology 25: 717-721, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/168514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">168514</a>] [<a href="https://doi.org/10.1212/wnl.25.8.717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="168514">Igisu et al. (1975)</a>, and <a href="#15" class="mim-tip-reference" title="Gambarelli, D., Hassoun, J., Pellissier, J. F., Livet, M. O., Pinsard, N., Toga, M. <strong>Giant axonal neuropathy: involvement of peripheral nerve, myenteric plexus and extra-neuronal area.</strong> Acta Neuropath. 39: 261-269, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/199032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">199032</a>] [<a href="https://doi.org/10.1007/BF00691706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="199032">Gambarelli et al. (1977)</a>. Affected sibs were described by <a href="#24" class="mim-tip-reference" title="Takebe, Y., Shoko, N., Baba, M. <strong>Childhood giant axonal neuropathy. (Abstract)</strong> Brain Dev. 1: 203 only, 1979."None>Takebe et al. (1979)</a> and by <a href="#17" class="mim-tip-reference" title="Jones, M. Z., Nigro, M. A., Barre, P. S. <strong>Familial 'giant axonal neuropathy.' (Abstract)</strong> J. Neuropath. Exp. Neurol. 38: 324 only, 1979."None>Jones et al. (1979)</a>. <a href="#11" class="mim-tip-reference" title="Donaghy, M., Brett, E. M., Ormerod, I. E. C., King, R. H. M., Thomas, P. K. <strong>Giant axonal neuropathy: observations on a further patient.</strong> J. Neurol. Neurosurg. Psychiat. 51: 991-994, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2849642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2849642</a>] [<a href="https://doi.org/10.1136/jnnp.51.7.991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2849642">Donaghy et al. (1988)</a> described an affected Iranian boy whose parents were consanguineous. The authors stated that this was the 19th reported case and that 6 patients, including theirs, had resulted from consanguineous marriages. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=199032+4377753+2849642+168514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#14" class="mim-tip-reference" title="Flanigan, K. M., Crawford, T. O., Griffin, J. W., Goebel, H. H., Kohlschutter, A., Ranells, J., Camfield, P. R., Ptacek, L. J. <strong>Localization of the giant axonal neuropathy gene to chromosome 16q24.</strong> Ann. Neurol. 43: 143-148, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450783</a>] [<a href="https://doi.org/10.1002/ana.410430126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9450783">Flanigan et al. (1998)</a> pursued a genomewide search for regions of homozygosity by descent in 5 consanguineous families with giant axonal neuropathy. They found a 5.3-cM region of homozygosity, shared in all 5 families, on 16q24. Linkage was established to this locus with a lod score of 4.18 at theta = 0.00 for the most tightly linked marker, D16S3098. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9450783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By homozygosity mapping, <a href="#2" class="mim-tip-reference" title="Ben Hamida, C., Cavalier, L., Belal, S., Sanhaji, H., Nadal, N., Barhoumi, C., M'Rissa, N., Marzouki, N., Mandel, J.-L., Ben Hamida, M., Koenig, M., Hentati, F. <strong>Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1.</strong> Neurogenetics 1: 129-133, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10732815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10732815</a>] [<a href="https://doi.org/10.1007/s100480050019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10732815">Ben Hamida et al. (1997)</a> demonstrated that the GAN1 locus is situated on 16q24.1 between D16S3073 and D16S505 in 3 unrelated Tunisian families. One of the families had been reported by <a href="#3" class="mim-tip-reference" title="Ben Hamida, M., Hentati, F., Ben Hamida, C. <strong>Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.</strong> Neurology 40: 245-250, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2153943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2153943</a>] [<a href="https://doi.org/10.1212/wnl.40.2.245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2153943">Ben Hamida et al. (1990)</a>. Two-point lod score calculation between the linked haplotype and the disease locus was 14.2 at theta = 0.0. The patients shared a slow course of the disease. The observation of kinky or curly hair was not a consistent finding. Differences in the course of the disease between Tunisian and non-Tunisian patients suggested possible genetic heterogeneity; for that reason, <a href="#2" class="mim-tip-reference" title="Ben Hamida, C., Cavalier, L., Belal, S., Sanhaji, H., Nadal, N., Barhoumi, C., M'Rissa, N., Marzouki, N., Mandel, J.-L., Ben Hamida, M., Koenig, M., Hentati, F. <strong>Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1.</strong> Neurogenetics 1: 129-133, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10732815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10732815</a>] [<a href="https://doi.org/10.1007/s100480050019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10732815">Ben Hamida et al. (1997)</a> referred to the linkage in the locus identified in the Tunisian cases as GAN1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10732815+2153943" 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="#10" class="mim-tip-reference" title="Cavalier, L., Ben Hamida, C., Amouri, R., Belal, S., Bomont, P., Lagarde, N., Gressin, L., Callen, D., Demir, E., Topaloglu, H., Landrieu, P., Ioos, C., Ben Hamida, M., Koenig, M., Hentati, F. <strong>Giant axonal neuropathy locus refinement to a less than 590 kb critical interval.</strong> Europ. J. Hum. Genet. 8: 527-534, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10909853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10909853</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200476" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10909853">Cavalier et al. (2000)</a> refined the GAN1 locus to a less than 590-kb region by analysis of 12 unrelated affected families, 3 of which had been reported by <a href="#2" class="mim-tip-reference" title="Ben Hamida, C., Cavalier, L., Belal, S., Sanhaji, H., Nadal, N., Barhoumi, C., M'Rissa, N., Marzouki, N., Mandel, J.-L., Ben Hamida, M., Koenig, M., Hentati, F. <strong>Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1.</strong> Neurogenetics 1: 129-133, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10732815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10732815</a>] [<a href="https://doi.org/10.1007/s100480050019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10732815">Ben Hamida et al. (1997)</a>. Two Tunisian families shared a common haplotype, suggesting a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10909853+10732815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The histopathology of peripheral nerves in GAN as well as changes in other tissues implies that the underlying defect is one of generalized intermediate filament (IF) organization, with neurofilaments predominantly affected (<a href="#14" class="mim-tip-reference" title="Flanigan, K. M., Crawford, T. O., Griffin, J. W., Goebel, H. H., Kohlschutter, A., Ranells, J., Camfield, P. R., Ptacek, L. J. <strong>Localization of the giant axonal neuropathy gene to chromosome 16q24.</strong> Ann. Neurol. 43: 143-148, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9450783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9450783</a>] [<a href="https://doi.org/10.1002/ana.410430126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9450783">Flanigan et al., 1998</a>). Nerve fibers are distorted by giant axonal swellings filled with densely packed bundles of neurofilaments (the primary intermediate filament in neurons), with segregation of other axoplasmic organelles. In addition to disorganized neurofilaments in nerve, disorganization of other members of the IF family of proteins is seen in other tissues; these include vimentin (VIM; <a href="/entry/193060">193060</a>) in endothelial cells, Schwann cells, and cultured skin fibroblasts, and glial fibrillary acidic protein (GFAP; <a href="/entry/137780">137780</a>) in astrocytes (<a href="#23" class="mim-tip-reference" title="Prineas, J. W., Ouvrier, R. A., Wright, R. G., Walsh, J. C., McLeod, J. G. <strong>Giant axonal neuropathy: a generalized disorder of cytoplasmic microfilament formation.</strong> J. Neuropath. Exp. Neurol. 35: 458-470, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/180266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">180266</a>] [<a href="https://doi.org/10.1097/00005072-197607000-00006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="180266">Prineas et al., 1976</a>; <a href="#22" class="mim-tip-reference" title="Pena, S. D. <strong>Giant axonal neuropathy: an inborn error of organization of intermediate filaments.</strong> Muscle Nerve 5: 166-172, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6280044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6280044</a>] [<a href="https://doi.org/10.1002/mus.880050215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6280044">Pena, 1982</a>; <a href="#7" class="mim-tip-reference" title="Bousquet, O., Basseville, M., Vila-Porcile, E., Billette de Villemeur, T., Hauw, J.-J., Landrieu, P., Portier, M.-M. <strong>Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy.</strong> Cell. Motil. Cytoskeleton 33: 115-129, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8635201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8635201</a>] [<a href="https://doi.org/10.1002/(SICI)1097-0169(1996)33:2<115::AID-CM4>3.0.CO;2-B" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8635201">Bousquet et al., 1996</a>). Keratin intermediate filaments also seem to be altered, as most patients present characteristic curly or kinky hairs (<a href="#27" class="mim-tip-reference" title="Treiber-Held, S., Budjarjo-Welim, H., Riemann, D., Richter, J., Kretzschmar, H. A., Hanefeld, F. <strong>Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair.</strong> Neuropediatrics 25: 89-93, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8072681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8072681</a>] [<a href="https://doi.org/10.1055/s-2008-1071592" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8072681">Treiber-Held et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=180266+8635201+9450783+8072681+6280044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Bomont, P., Koenig, M. <strong>Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.</strong> Hum. Molec. Genet. 12: 813-822, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668605</a>] [<a href="https://doi.org/10.1093/hmg/ddg092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12668605">Bomont and Koenig (2003)</a> showed that vimentin aggregation in primary fibroblasts from patients with giant axonal neuropathy demonstrated great variation on prolonged culture at confluence and in low serum conditions. While neither the microfilament nor the microtubule networks were perturbed by vimentin destabilization, the aggregates were in close proximity to the microtubule organizing centers. Microtubule depolymerization induced a total vimentin aggregation in GAN fibroblasts. <a href="#6" class="mim-tip-reference" title="Bomont, P., Koenig, M. <strong>Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.</strong> Hum. Molec. Genet. 12: 813-822, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12668605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12668605</a>] [<a href="https://doi.org/10.1093/hmg/ddg092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12668605">Bomont and Koenig (2003)</a> proposed that gigaxonin may play an important role in the crosstalk between the cytoplasmic intermediate filament and microtubule networks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12668605" 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 patients with giant axonal neuropathy, <a href="#5" class="mim-tip-reference" title="Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M. <strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong> Nature Genet. 26: 370-374, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062483</a>] [<a href="https://doi.org/10.1038/81701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062483">Bomont et al. (2000)</a> identified frameshift, nonsense, and missense mutations in the GAN gene (see, e.g., <a href="/entry/605379#0001">605379.0001</a>-<a href="/entry/605379#0003">605379.0003</a>; <a href="/entry/605379#0006">605379.0006</a>- <a href="/entry/605379#0007">605379.0007</a>). Some of the families had been reported by <a href="#3" class="mim-tip-reference" title="Ben Hamida, M., Hentati, F., Ben Hamida, C. <strong>Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.</strong> Neurology 40: 245-250, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2153943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2153943</a>] [<a href="https://doi.org/10.1212/wnl.40.2.245" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2153943">Ben Hamida et al. (1990)</a>, <a href="#2" class="mim-tip-reference" title="Ben Hamida, C., Cavalier, L., Belal, S., Sanhaji, H., Nadal, N., Barhoumi, C., M'Rissa, N., Marzouki, N., Mandel, J.-L., Ben Hamida, M., Koenig, M., Hentati, F. <strong>Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1.</strong> Neurogenetics 1: 129-133, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10732815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10732815</a>] [<a href="https://doi.org/10.1007/s100480050019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10732815">Ben Hamida et al. (1997)</a>, <a href="#10" class="mim-tip-reference" title="Cavalier, L., Ben Hamida, C., Amouri, R., Belal, S., Bomont, P., Lagarde, N., Gressin, L., Callen, D., Demir, E., Topaloglu, H., Landrieu, P., Ioos, C., Ben Hamida, M., Koenig, M., Hentati, F. <strong>Giant axonal neuropathy locus refinement to a less than 590 kb critical interval.</strong> Europ. J. Hum. Genet. 8: 527-534, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10909853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10909853</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200476" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10909853">Cavalier et al. (2000)</a>, and <a href="#28" class="mim-tip-reference" title="Zemmouri, R., Azzedine, H., Assami, S., Kitouni, N., Vallat, J. M., Maisonobe, T., Hamadouche, T., Kessaci, M., Mansouri, B., Le Guern, E., Grid, D., Tazir, M. <strong>Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.</strong> Neuromusc. Disord. 10: 592-598, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11053687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11053687</a>] [<a href="https://doi.org/10.1016/s0960-8966(00)00141-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11053687">Zemmouri et al. (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10732815+10909853+11053687+2153943+11062483" 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="#13" class="mim-tip-reference" title="Duncan, I. D., Griffiths, I. R., Carmichael, S., Henderson, S. <strong>Inherited canine giant axonal neuropathy.</strong> Muscle Nerve 4: 223-227, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6264288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6264288</a>] [<a href="https://doi.org/10.1002/mus.880040309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6264288">Duncan et al. (1981)</a> described a possibly homologous disorder in German shepherd dogs. Unusually tight curly hair may be a feature as in the human disorder. The canine disorder is autosomal recessive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6264288" 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="#Asbury1972" class="mim-tip-reference" title="Asbury, A. K., Gale, M. K., Cox, S. C., Baringer, J. R., Berg, B. O. <strong>Giant axonal neuropathy--a unique case with segmental neurofilamentous masses.</strong> Acta Neuropath. 20: 237-247, 1972.">Asbury et al. (1972)</a>; <a href="#Kinney1985" class="mim-tip-reference" title="Kinney, R. B., Gottfried, M. R., Hodson, A. K., Autilio-Gambetti, L., Graham, D. G. <strong>Congenital giant axonal neuropathy.</strong> Arch. Path. Lab. Med. 109: 639-641, 1985.">Kinney et al. (1985)</a>; <a href="#Koch1977" class="mim-tip-reference" title="Koch, T., Schultz, P., Williams, R., Lampert, P. <strong>Giant axonal neuropathy: a childhood disorder of microfilaments.</strong> Ann. Neurol. 1: 438-451, 1977.">Koch et al. (1977)</a>
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[<a href="https://doi.org/10.1007/s100480050019" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.40.2.245" target="_blank">Full Text</a>]
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<strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong>
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[<a href="https://doi.org/10.1038/81701" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg092" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1097-0169(1996)33:2<115::AID-CM4>3.0.CO;2-B" target="_blank">Full Text</a>]
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<strong>Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.33508" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1974.00490410060005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200476" target="_blank">Full Text</a>]
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<strong>Giant axonal neuropathy: observations on a further patient.</strong>
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[<a href="https://doi.org/10.1136/jnnp.51.7.991" target="_blank">Full Text</a>]
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<strong>Clinical progression of giant-axonal neuropathy over a twelve year period.</strong>
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[<a href="https://doi.org/10.1017/s0317167100043456" target="_blank">Full Text</a>]
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<a id="Duncan1981" class="mim-anchor"></a>
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<strong>Inherited canine giant axonal neuropathy.</strong>
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Muscle Nerve 4: 223-227, 1981.
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[<a href="https://doi.org/10.1002/mus.880040309" target="_blank">Full Text</a>]
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<strong>Localization of the giant axonal neuropathy gene to chromosome 16q24.</strong>
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Ann. Neurol. 43: 143-148, 1998.
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[<a href="https://doi.org/10.1002/ana.410430126" target="_blank">Full Text</a>]
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<a id="Gambarelli1977" class="mim-anchor"></a>
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<div class="">
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<strong>Giant axonal neuropathy: involvement of peripheral nerve, myenteric plexus and extra-neuronal area.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/199032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">199032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=199032" 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/BF00691706" target="_blank">Full Text</a>]
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<strong>Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system.</strong>
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[<a href="https://doi.org/10.1212/wnl.25.8.717" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2990373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2990373</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2990373" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Koch1977" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Koch, T., Schultz, P., Williams, R., Lampert, P.
|
|
<strong>Giant axonal neuropathy: a childhood disorder of microfilaments.</strong>
|
|
Ann. Neurol. 1: 438-451, 1977.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/214018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">214018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=214018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410010507" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Nalini2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Nalini, A., Gayathri, N., Yasha, T. C., Ravishankar, S., Urtizberea, A., Huehne, K., Rautenstrauss, B.
|
|
<strong>Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.</strong>
|
|
Europ. J. Med. Genet. 51: 426-435, 2008.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18595793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18595793</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18595793" 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/10.1016/j.ejmg.2008.05.006" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Ouvrier1974" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Ouvrier, R. A., Prineas, J., Walsh, J. C., Reye, R. D. K., McLeod, J. G.
|
|
<strong>Giant axonal neuropathy--a third case.</strong>
|
|
Proc. Aust. Assoc. Neurol. 11: 137-144, 1974.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4377753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4377753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4377753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Pena1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Pena, S. D.
|
|
<strong>Giant axonal neuropathy: an inborn error of organization of intermediate filaments.</strong>
|
|
Muscle Nerve 5: 166-172, 1982.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6280044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6280044</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6280044" 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/mus.880050215" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Prineas1976" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Prineas, J. W., Ouvrier, R. A., Wright, R. G., Walsh, J. C., McLeod, J. G.
|
|
<strong>Giant axonal neuropathy: a generalized disorder of cytoplasmic microfilament formation.</strong>
|
|
J. Neuropath. Exp. Neurol. 35: 458-470, 1976.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/180266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">180266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=180266" 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/10.1097/00005072-197607000-00006" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Takebe1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Takebe, Y., Shoko, N., Baba, M.
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<strong>Childhood giant axonal neuropathy. (Abstract)</strong>
|
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Brain Dev. 1: 203 only, 1979.
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</p>
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</div>
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</li>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Tandan1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Tandan, R., Little, B. W., Emery, E. S., Good, P. S., Pendlebury, W. W., Bradley, W. G.
|
|
<strong>Childhood giant axonal neuropathy: case report and review of the literature.</strong>
|
|
J. Neurol. Sci. 82: 205-228, 1987.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2831308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2831308</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2831308" 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/10.1016/0022-510x(87)90019-0" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Tazir2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tazir, M., Nouioua, S., Magy, L., Huehne, K., Assami, S., Urtizberea, A., Grid, D., Hamadouche, T., Rautenstrauss, B., Vallat, J.-M.
|
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<strong>Phenotypic variability in giant axonal neuropathy.</strong>
|
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Neuromusc. Disord. 19: 270-274, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19231187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19231187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19231187" 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/10.1016/j.nmd.2009.01.011" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Treiber-Held1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Treiber-Held, S., Budjarjo-Welim, H., Riemann, D., Richter, J., Kretzschmar, H. A., Hanefeld, F.
|
|
<strong>Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair.</strong>
|
|
Neuropediatrics 25: 89-93, 1994.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8072681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8072681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8072681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1055/s-2008-1071592" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="Zemmouri2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zemmouri, R., Azzedine, H., Assami, S., Kitouni, N., Vallat, J. M., Maisonobe, T., Hamadouche, T., Kessaci, M., Mansouri, B., Le Guern, E., Grid, D., Tazir, M.
|
|
<strong>Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.</strong>
|
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Neuromusc. Disord. 10: 592-598, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11053687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11053687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11053687" 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/10.1016/s0960-8966(00)00141-3" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/21/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/3/2009<br>Cassandra L. Kniffin - updated : 3/9/2009<br>Cassandra L. Kniffin - updated : 5/8/2006<br>George E. Tiller - updated : 3/2/2005<br>Victor A. McKusick - updated : 10/26/2000<br>Victor A. McKusick - updated : 5/11/1998<br>Victor A. McKusick - updated : 5/5/1998
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/06/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mcolton : 6/6/2014<br>ckniffin : 6/5/2014<br>alopez : 3/30/2012<br>terry : 3/28/2012<br>ckniffin : 3/21/2012<br>wwang : 11/19/2009<br>ckniffin : 11/3/2009<br>wwang : 3/17/2009<br>ckniffin : 3/9/2009<br>ckniffin : 5/18/2006<br>carol : 5/12/2006<br>ckniffin : 5/8/2006<br>carol : 3/4/2005<br>wwang : 3/2/2005<br>terry : 2/18/2005<br>alopez : 10/31/2000<br>terry : 10/26/2000<br>carol : 9/14/1998<br>carol : 5/12/1998<br>carol : 5/11/1998<br>terry : 5/5/1998<br>carol : 9/16/1994<br>mimadm : 4/18/1994<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>root : 11/4/1988
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 256850
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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|
GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1
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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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<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>
|
|
<span class="mim-font">
|
|
GAN
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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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<p>
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<span class="mim-text-font">
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|
|
|
<strong>SNOMEDCT:</strong> 128207002;
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|
<strong>ORPHA:</strong> 643;
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|
<strong>DO:</strong> 0090068;
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</span>
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</p>
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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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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
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</tr>
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
16q23.2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Giant axonal neuropathy-1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
256850
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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GAN
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605379
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that giant axonal neuropathy-1 (GAN1) is caused by homozygous or compound heterozygous mutation in the gigaxonin gene (GAN; 605379) on chromosome 16q23.</p>
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<strong>Description</strong>
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<p>Giant axonal neuropathy is a chronic polyneuropathy of childhood that affects both the peripheral and central nervous systems and is accompanied by characteristically kinky hair and unique posture of legs (see illustrations by Berg et al., 1972; Igisu et al., 1975; Carpenter et al., 1974). Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsy are the pathologic hallmark of this neurodegenerative disorder (Tazir et al., 2009). </p><p><strong><em>Genetic Heterogeneity of Giant Axonal Neuropathy</em></strong></p><p>
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See also GAN2 (610100), caused by mutation in the DCAF8 gene (615820) on chromosome 1q23.</p>
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<strong>Clinical Features</strong>
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<p>Carpenter et al. (1974) emphasized abnormality of the hair, which was strikingly curly and pale unlike that of his parents. Chemical analysis disclosed a decrease in disulfide bonds and an increase in thiol groups. Curly hair different from that of the parents, with peripheral neuropathy, seemed to suggest the diagnosis, which can be confirmed by specific changes on sural nerve biopsy: greatly enlarged axons packed with neurofilaments. Dooley et al. (1981) described a 17-year-old girl who had been followed for 12 years. Tandan et al. (1987) described a 9-year-old girl with dense, characteristically frizzy scalp hair and long, curly eyelashes. In a 4-year-old girl with clinical and sural nerve biopsy findings typical of GAN, Treiber-Held et al. (1994) found that the hairs showed longitudinal grooves on scanning electron microscopy. This finding had been described in 2 other patients. Treiber-Held et al. (1994) presented a photograph of their patient in comparison with the first reported patient of Berg et al. (1972) and that of Carpenter et al. (1974). They commented on remarkable similarity in facial appearance and head form with prominent high forehead. </p><p>In an inbred Tunisian kindred, Ben Hamida et al. (1990) described a form of giant axonal neuropathy without hair abnormalities. Affected individuals showed slow progression and an unusual clinical picture in which the sensorimotor neuropathy was associated with multisystem degeneration including a motor neuron syndrome. Three males and 3 females in 4 sibships were affected. The propositus, a 53-year-old man, presented with progressive infantile onset, distal amyotrophy of 4 limbs, brisk reflexes, diffuse fasciculations, bulbar signs, and deep sensory loss in both lower limbs. Muscle biopsy showed typical hypertrophic neuropathy. In 4 patients, there were giant axons filled with neurofilaments, with normal conduction velocity. The youngest patient, a 4-year-old girl (the abstract states that it was a boy), had mild neurologic deficit, and nerve biopsy showed only a few unmyelinated axons filled with neurofilaments. </p><p>Zemmouri et al. (2000) reported a large consanguineous Algerian family in which 4 patients had slowly progressive giant axonal neuropathy. Age at onset ranged from 6 to 10 years. The proband presented with a Charcot-Marie-Tooth type 2 (CMT2; 118210)-like phenotype with foot deformity, distal amyotrophy of the lower limbs, areflexia, and distal sensory loss. The proband developed central nervous system involvement 10 years after onset with mild cerebellar dysarthria and nystagmus; the oldest patient developed spastic paraplegia 16 years after onset. MRI showed cerebellar atrophy in the 2 older patients. Nerve biopsy showed moderate axonal loss with several giant axons filled with neurofilaments. Linkage was found to chromosome 16q. In affected members of the family reported by Zemmouri et al. (2000), Bomont et al. (2000) identified a homozygous mutation in the GAN gene (605379.0006). </p><p>Nalini et al. (2008) reported 2 Indian sibs, born of consanguineous parents, with classic features of autosomal recessive GAN. Both had a progressive severe motor and sensory neuropathy, cerebellar dysfunction, thick curly hair, and distended neurofilament-filled axonal swellings on sural nerve biopsy. Skin biopsy also showed characteristic giant axons. One patient had delayed psychomotor development and mental retardation. Both patients were homozygous for a truncation mutation in the GAN gene. </p><p>Tazir et al. (2009) reported patients from 5 consanguineous Algerian families with autosomal recessive GAN. The mean age at onset was 5 years (range, 2 to 7). Four of the families had the same homozygous GAN mutation (R477X; 605379.0008). However, the phenotype was variable. Patients from 2 families with this mutation had the classic phenotype with kinky red hair, cerebellar ataxia, and peripheral motor and sensory neuropathy. Mental retardation was variable. A patient from another family had frizzy hair, spastic paraparesis with Babinski sign, facial diplegia, mental retardation, and minor clinical signs of neuropathy and cerebellar ataxia. The patient from the fourth family had a congenital neuropathy with mental retardation and a rapid and severe progression, but without abnormal hair. A patient from the fifth family with a different mutation (E169K; 605379.0009) had onset at age 3 years of weakness of the face and distal and proximal limbs. He also had short stature, foot and hand deformities, scoliosis, and sensory impairment. Mental retardation, spasticity, and kinky hair were not observed. Tazir et al. (2009) noted the clinical variability of giant axonal neuropathy, even among those with the same mutation. </p><p>Buysse et al. (2010) reported a boy, born of nonconsanguineous parents, with GAN. Delayed motor development was noted in the second half of the first year of life. He began to walk at age 24 months, but showed an awkward and unstable gait with areflexia. He had a large head and frizzy hair. EMG showed low action potential amplitudes, but nerve conduction velocities were normal. At age 3 years, brain MRI showed relatively large lateral ventricles, and he showed mild cognitive delay with a total IQ of 71. Skeletal muscle and skin biopsy performed at age 6 years showed dense intraaxonal accumulations of neurofilaments in some abnormally large myelinated axons and intermediate filament accumulations in some dermal fibroblasts. Array CGH identified an intragenic deletion in the GAN gene inherited from the mother and a point mutation in the GAN gene (E486K; 605379.0001) inherited from the father. Buysse et al. (2010) noted that the deletion was found using high-resolution array CGH, and that the patient was initially erroneously thought to be homozygous for the point mutation. The findings illustrated the use of array CGH for proper molecular characterization and in the unmasking of a deletion as a recessive allele. </p>
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<h4>
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<strong>Inheritance</strong>
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</h4>
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<p>Giant axonal neuropathy is an autosomal recessive disorder. Parental consanguinity was noted by Ouvrier et al. (1974), Igisu et al. (1975), and Gambarelli et al. (1977). Affected sibs were described by Takebe et al. (1979) and by Jones et al. (1979). Donaghy et al. (1988) described an affected Iranian boy whose parents were consanguineous. The authors stated that this was the 19th reported case and that 6 patients, including theirs, had resulted from consanguineous marriages. </p>
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<strong>Mapping</strong>
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<p>Flanigan et al. (1998) pursued a genomewide search for regions of homozygosity by descent in 5 consanguineous families with giant axonal neuropathy. They found a 5.3-cM region of homozygosity, shared in all 5 families, on 16q24. Linkage was established to this locus with a lod score of 4.18 at theta = 0.00 for the most tightly linked marker, D16S3098. </p><p>By homozygosity mapping, Ben Hamida et al. (1997) demonstrated that the GAN1 locus is situated on 16q24.1 between D16S3073 and D16S505 in 3 unrelated Tunisian families. One of the families had been reported by Ben Hamida et al. (1990). Two-point lod score calculation between the linked haplotype and the disease locus was 14.2 at theta = 0.0. The patients shared a slow course of the disease. The observation of kinky or curly hair was not a consistent finding. Differences in the course of the disease between Tunisian and non-Tunisian patients suggested possible genetic heterogeneity; for that reason, Ben Hamida et al. (1997) referred to the linkage in the locus identified in the Tunisian cases as GAN1. </p><p>Cavalier et al. (2000) refined the GAN1 locus to a less than 590-kb region by analysis of 12 unrelated affected families, 3 of which had been reported by Ben Hamida et al. (1997). Two Tunisian families shared a common haplotype, suggesting a founder effect. </p>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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<p>The histopathology of peripheral nerves in GAN as well as changes in other tissues implies that the underlying defect is one of generalized intermediate filament (IF) organization, with neurofilaments predominantly affected (Flanigan et al., 1998). Nerve fibers are distorted by giant axonal swellings filled with densely packed bundles of neurofilaments (the primary intermediate filament in neurons), with segregation of other axoplasmic organelles. In addition to disorganized neurofilaments in nerve, disorganization of other members of the IF family of proteins is seen in other tissues; these include vimentin (VIM; 193060) in endothelial cells, Schwann cells, and cultured skin fibroblasts, and glial fibrillary acidic protein (GFAP; 137780) in astrocytes (Prineas et al., 1976; Pena, 1982; Bousquet et al., 1996). Keratin intermediate filaments also seem to be altered, as most patients present characteristic curly or kinky hairs (Treiber-Held et al., 1994). </p><p>Bomont and Koenig (2003) showed that vimentin aggregation in primary fibroblasts from patients with giant axonal neuropathy demonstrated great variation on prolonged culture at confluence and in low serum conditions. While neither the microfilament nor the microtubule networks were perturbed by vimentin destabilization, the aggregates were in close proximity to the microtubule organizing centers. Microtubule depolymerization induced a total vimentin aggregation in GAN fibroblasts. Bomont and Koenig (2003) proposed that gigaxonin may play an important role in the crosstalk between the cytoplasmic intermediate filament and microtubule networks. </p>
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In patients with giant axonal neuropathy, Bomont et al. (2000) identified frameshift, nonsense, and missense mutations in the GAN gene (see, e.g., 605379.0001-605379.0003; 605379.0006- 605379.0007). Some of the families had been reported by Ben Hamida et al. (1990), Ben Hamida et al. (1997), Cavalier et al. (2000), and Zemmouri et al. (2000). </p>
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<span class="mim-font">
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<strong>Animal Model</strong>
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<p>Duncan et al. (1981) described a possibly homologous disorder in German shepherd dogs. Unusually tight curly hair may be a feature as in the human disorder. The canine disorder is autosomal recessive. </p>
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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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Asbury et al. (1972); Kinney et al. (1985); Koch et al. (1977)
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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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<div>
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<ol>
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<p class="mim-text-font">
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Asbury, A. K., Gale, M. K., Cox, S. C., Baringer, J. R., Berg, B. O.
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<strong>Giant axonal neuropathy--a unique case with segmental neurofilamentous masses.</strong>
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Acta Neuropath. 20: 237-247, 1972.
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[PubMed: 5044004]
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[Full Text: https://doi.org/10.1007/BF00686905]
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<li>
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<p class="mim-text-font">
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Ben Hamida, C., Cavalier, L., Belal, S., Sanhaji, H., Nadal, N., Barhoumi, C., M'Rissa, N., Marzouki, N., Mandel, J.-L., Ben Hamida, M., Koenig, M., Hentati, F.
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<strong>Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1.</strong>
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Neurogenetics 1: 129-133, 1997.
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[PubMed: 10732815]
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[Full Text: https://doi.org/10.1007/s100480050019]
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<li>
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<p class="mim-text-font">
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Ben Hamida, M., Hentati, F., Ben Hamida, C.
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<strong>Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.</strong>
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Neurology 40: 245-250, 1990.
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[PubMed: 2153943]
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[Full Text: https://doi.org/10.1212/wnl.40.2.245]
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</p>
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<li>
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<p class="mim-text-font">
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Berg, B. O., Rosenberg, S. H., Asbury, A. K.
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<strong>Giant axonal neuropathy.</strong>
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Pediatrics 49: 894-899, 1972.
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[PubMed: 4339350]
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</p>
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<li>
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<p class="mim-text-font">
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Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B., Landrieu, P., Hentati, F., Koenig, M.
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<strong>The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.</strong>
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Nature Genet. 26: 370-374, 2000.
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[PubMed: 11062483]
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[Full Text: https://doi.org/10.1038/81701]
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<li>
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<p class="mim-text-font">
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Bomont, P., Koenig, M.
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<strong>Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.</strong>
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Hum. Molec. Genet. 12: 813-822, 2003.
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[PubMed: 12668605]
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[Full Text: https://doi.org/10.1093/hmg/ddg092]
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<p class="mim-text-font">
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Bousquet, O., Basseville, M., Vila-Porcile, E., Billette de Villemeur, T., Hauw, J.-J., Landrieu, P., Portier, M.-M.
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<strong>Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy.</strong>
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Cell. Motil. Cytoskeleton 33: 115-129, 1996.
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[PubMed: 8635201]
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[Full Text: https://doi.org/10.1002/(SICI)1097-0169(1996)33:2<115::AID-CM4>3.0.CO;2-B]
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<p class="mim-text-font">
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Buysse, K., Vergult, S., Mussche, S., Ceuterick-de Groote, C., Speleman, F., Menten, B., Lissens, W., Van Coster, R.
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<strong>Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.</strong>
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Am. J. Med. Genet. 152A: 2802-2804, 2010.
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[PubMed: 20949505]
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[Full Text: https://doi.org/10.1002/ajmg.a.33508]
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<p class="mim-text-font">
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Carpenter, S., Karpati, G., Andermann, F., Gold, R.
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<strong>Giant axonal neuropathy: a clinically and morphologically distinct neurological disease.</strong>
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Arch. Neurol. 31: 312-316, 1974.
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[PubMed: 4153361]
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[Full Text: https://doi.org/10.1001/archneur.1974.00490410060005]
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<li>
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<p class="mim-text-font">
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Cavalier, L., Ben Hamida, C., Amouri, R., Belal, S., Bomont, P., Lagarde, N., Gressin, L., Callen, D., Demir, E., Topaloglu, H., Landrieu, P., Ioos, C., Ben Hamida, M., Koenig, M., Hentati, F.
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<strong>Giant axonal neuropathy locus refinement to a less than 590 kb critical interval.</strong>
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Europ. J. Hum. Genet. 8: 527-534, 2000.
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[PubMed: 10909853]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200476]
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<p class="mim-text-font">
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Donaghy, M., Brett, E. M., Ormerod, I. E. C., King, R. H. M., Thomas, P. K.
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<strong>Giant axonal neuropathy: observations on a further patient.</strong>
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J. Neurol. Neurosurg. Psychiat. 51: 991-994, 1988.
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[PubMed: 2849642]
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[Full Text: https://doi.org/10.1136/jnnp.51.7.991]
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</li>
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<li>
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<p class="mim-text-font">
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Dooley, J. M., Oshima, Y., Becker, L. E., Murphy, E. G.
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<strong>Clinical progression of giant-axonal neuropathy over a twelve year period.</strong>
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Canad. J. Neurol. Sci. 8: 321-323, 1981.
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[PubMed: 7326612]
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[Full Text: https://doi.org/10.1017/s0317167100043456]
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<li>
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<p class="mim-text-font">
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Duncan, I. D., Griffiths, I. R., Carmichael, S., Henderson, S.
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<strong>Inherited canine giant axonal neuropathy.</strong>
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Muscle Nerve 4: 223-227, 1981.
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[PubMed: 6264288]
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[Full Text: https://doi.org/10.1002/mus.880040309]
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<li>
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<p class="mim-text-font">
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Flanigan, K. M., Crawford, T. O., Griffin, J. W., Goebel, H. H., Kohlschutter, A., Ranells, J., Camfield, P. R., Ptacek, L. J.
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<strong>Localization of the giant axonal neuropathy gene to chromosome 16q24.</strong>
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Ann. Neurol. 43: 143-148, 1998.
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[PubMed: 9450783]
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[Full Text: https://doi.org/10.1002/ana.410430126]
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<p class="mim-text-font">
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Gambarelli, D., Hassoun, J., Pellissier, J. F., Livet, M. O., Pinsard, N., Toga, M.
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<strong>Giant axonal neuropathy: involvement of peripheral nerve, myenteric plexus and extra-neuronal area.</strong>
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Acta Neuropath. 39: 261-269, 1977.
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[PubMed: 199032]
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[Full Text: https://doi.org/10.1007/BF00691706]
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<li>
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<p class="mim-text-font">
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Igisu, H., Ohta, M., Tabira, T., Hosokawa, S., Goto, I., Kuroiwa, Y.
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<strong>Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system.</strong>
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Neurology 25: 717-721, 1975.
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[PubMed: 168514]
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[Full Text: https://doi.org/10.1212/wnl.25.8.717]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Jones, M. Z., Nigro, M. A., Barre, P. S.
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<strong>Familial 'giant axonal neuropathy.' (Abstract)</strong>
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J. Neuropath. Exp. Neurol. 38: 324 only, 1979.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kinney, R. B., Gottfried, M. R., Hodson, A. K., Autilio-Gambetti, L., Graham, D. G.
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<strong>Congenital giant axonal neuropathy.</strong>
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Arch. Path. Lab. Med. 109: 639-641, 1985.
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[PubMed: 2990373]
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</p>
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<p class="mim-text-font">
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Koch, T., Schultz, P., Williams, R., Lampert, P.
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<strong>Giant axonal neuropathy: a childhood disorder of microfilaments.</strong>
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Ann. Neurol. 1: 438-451, 1977.
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[PubMed: 214018]
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[Full Text: https://doi.org/10.1002/ana.410010507]
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Nalini, A., Gayathri, N., Yasha, T. C., Ravishankar, S., Urtizberea, A., Huehne, K., Rautenstrauss, B.
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<strong>Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.</strong>
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Europ. J. Med. Genet. 51: 426-435, 2008.
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[PubMed: 18595793]
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[Full Text: https://doi.org/10.1016/j.ejmg.2008.05.006]
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Ouvrier, R. A., Prineas, J., Walsh, J. C., Reye, R. D. K., McLeod, J. G.
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<strong>Giant axonal neuropathy--a third case.</strong>
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Proc. Aust. Assoc. Neurol. 11: 137-144, 1974.
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[PubMed: 4377753]
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Pena, S. D.
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<strong>Giant axonal neuropathy: an inborn error of organization of intermediate filaments.</strong>
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Muscle Nerve 5: 166-172, 1982.
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[PubMed: 6280044]
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[Full Text: https://doi.org/10.1002/mus.880050215]
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Prineas, J. W., Ouvrier, R. A., Wright, R. G., Walsh, J. C., McLeod, J. G.
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<strong>Giant axonal neuropathy: a generalized disorder of cytoplasmic microfilament formation.</strong>
|
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J. Neuropath. Exp. Neurol. 35: 458-470, 1976.
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[PubMed: 180266]
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[Full Text: https://doi.org/10.1097/00005072-197607000-00006]
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<li>
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<p class="mim-text-font">
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Takebe, Y., Shoko, N., Baba, M.
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<strong>Childhood giant axonal neuropathy. (Abstract)</strong>
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Brain Dev. 1: 203 only, 1979.
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</p>
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Tandan, R., Little, B. W., Emery, E. S., Good, P. S., Pendlebury, W. W., Bradley, W. G.
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<strong>Childhood giant axonal neuropathy: case report and review of the literature.</strong>
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J. Neurol. Sci. 82: 205-228, 1987.
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[PubMed: 2831308]
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[Full Text: https://doi.org/10.1016/0022-510x(87)90019-0]
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Tazir, M., Nouioua, S., Magy, L., Huehne, K., Assami, S., Urtizberea, A., Grid, D., Hamadouche, T., Rautenstrauss, B., Vallat, J.-M.
|
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<strong>Phenotypic variability in giant axonal neuropathy.</strong>
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Neuromusc. Disord. 19: 270-274, 2009.
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[PubMed: 19231187]
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[Full Text: https://doi.org/10.1016/j.nmd.2009.01.011]
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Treiber-Held, S., Budjarjo-Welim, H., Riemann, D., Richter, J., Kretzschmar, H. A., Hanefeld, F.
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<strong>Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair.</strong>
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Neuropediatrics 25: 89-93, 1994.
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[PubMed: 8072681]
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[Full Text: https://doi.org/10.1055/s-2008-1071592]
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Zemmouri, R., Azzedine, H., Assami, S., Kitouni, N., Vallat, J. M., Maisonobe, T., Hamadouche, T., Kessaci, M., Mansouri, B., Le Guern, E., Grid, D., Tazir, M.
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<strong>Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.</strong>
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Neuromusc. Disord. 10: 592-598, 2000.
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[PubMed: 11053687]
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[Full Text: https://doi.org/10.1016/s0960-8966(00)00141-3]
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Cassandra L. Kniffin - updated : 3/21/2012<br>Cassandra L. Kniffin - updated : 11/3/2009<br>Cassandra L. Kniffin - updated : 3/9/2009<br>Cassandra L. Kniffin - updated : 5/8/2006<br>George E. Tiller - updated : 3/2/2005<br>Victor A. McKusick - updated : 10/26/2000<br>Victor A. McKusick - updated : 5/11/1998<br>Victor A. McKusick - updated : 5/5/1998
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Victor A. McKusick : 6/4/1986
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