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Entry
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- #205100 - AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
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- OMIM
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<span class="h4">#205100</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/205100"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS105400"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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 style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE" 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=21137&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="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">ALS2-Related Disorder</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1450/" title="Amyotrophic Lateral Sclerosis Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Amyotrophic Lateral Sclero…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/404" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=205100[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=300605" 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 panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</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:0060194" 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/205100" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 300605<br />
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<strong>DO:</strong> 0060194<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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205100
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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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AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
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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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ALS, JUVENILE; ALSJ
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</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>
|
|
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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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/2/921?start=-3&limit=10&highlight=921">
|
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2q33.1
|
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</a>
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Amyotrophic lateral sclerosis 2, juvenile
|
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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/205100"> 205100 </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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</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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</td>
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<td>
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<span class="mim-font">
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ALS2
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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/606352"> 606352 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/205100" 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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|
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<a href="/phenotypicSeries/PS105400" 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')">
|
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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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<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>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/205100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/205100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
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<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 />
|
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</div>
|
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|
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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">
|
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<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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|
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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>
|
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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> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Spasticity of the facial muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853404</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002491" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002491</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002491" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002491</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sialorrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53827007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53827007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K11.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K11.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037036&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037036</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002307</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003781" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003781</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002307</a>]</span><br /> -
|
|
Difficulty in tongue movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853406&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853406</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000183" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000183</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Amyotrophy of hand muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009130" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009130</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009130" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009130</a>]</span><br /> -
|
|
Amyotrophy of distal limb muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848736</a> 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> <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 /> -
|
|
Neurogenic atrophy seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276595&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276595</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Upper motor neuron signs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0749870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0749870</a>]</span><br /> -
|
|
Spasticity of lower and upper limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859808&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859808</a>]</span><br /> -
|
|
Spastic gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9447003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9447003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R26.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R26.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002064</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002064</a>]</span><br /> -
|
|
Spastic tetraparesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298282001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298282001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575059&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575059</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001285" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001285</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001285" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001285</a>]</span><br /> -
|
|
Spasticity of pharyngeal muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853398&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853398</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002501</a>]</span><br /> -
|
|
Spastic dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229684006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229684006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0454596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0454596</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002464" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002464</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002464" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002464</a>]</span><br /> -
|
|
Spasticity of facial muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853404</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002491" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002491</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002491" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002491</a>]</span><br /> -
|
|
Pseudobulbar symptoms (uncontrolled laughter, weeping) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853399</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002200" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002200</a>]</span><br /> -
|
|
Dystonia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
|
|
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
|
|
Anarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48257004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48257004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1045276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1045276</a>, <a href="https://bioportal.bioontology.org/search?q=C0234517&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234517</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002425</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002425</a>]</span><br /> -
|
|
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 /> -
|
|
Extensor plantar responses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246586009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246586009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366575004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366575004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span><br /> -
|
|
Lower motor neuron signs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865412&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865412</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002366</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002366</a>]</span><br /> -
|
|
Evidence of denervation seen on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393142</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Peripheral 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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- No sensory abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853403</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> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Age at onset 3 to 23 years<br /> -
|
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
|
|
Allelic disorder to juvenile primary lateral sclerosis (PLSJ, <a href="/entry/606353">606353</a>)<br /> -
|
|
Allelic disorder to infantile-onset ascending spastic paralysis (IAHSP, <a href="/entry/607225">607225</a>)<br />
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|
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
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|
|
- Caused by mutation in the alsin Rho guanine nucleotide exchange factor ALS2 gene (ALS2, <a href="/entry/606352#0001">606352.0001</a>)<br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
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</div>
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|
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Amyotrophic lateral sclerosis
|
|
- <a href="/phenotypicSeries/PS105400">PS105400</a>
|
|
- 40 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/143?start=-3&limit=10&highlight=143"> 1p36.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612069"> Amyotrophic lateral sclerosis 10, with or without FTD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612069"> 612069 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605078"> TARDBP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605078"> 605078 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/143?start=-3&limit=10&highlight=143"> 1p36.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612069"> Frontotemporal lobar degeneration, TARDBP-related </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612069"> 612069 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605078"> TARDBP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605078"> 605078 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/333?start=-3&limit=10&highlight=333"> 2p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619133"> Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619133"> 619133 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603518"> TIA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603518"> 603518 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/377?start=-3&limit=10&highlight=377"> 2p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> {Amyotrophic lateral sclerosis, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> 105400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601143"> DCTN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601143"> 601143 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/921?start=-3&limit=10&highlight=921"> 2q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/205100"> Amyotrophic lateral sclerosis 2, juvenile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/205100"> 205100 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606352"> ALS2 </a>
|
|
</span>
|
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</td>
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|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606352"> 606352 </a>
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</span>
|
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/976?start=-3&limit=10&highlight=976"> 2q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615515"> Amyotrophic lateral sclerosis 19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615515"> 615515 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600543"> ERBB4 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600543"> 600543 </a>
|
|
</span>
|
|
</td>
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</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1035?start=-3&limit=10&highlight=1035"> 2q35 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616208"> Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616208"> 616208 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191110"> TUBA4A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191110"> 191110 </a>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/475?start=-3&limit=10&highlight=475"> 3p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600795"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600795"> 600795 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609512"> CHMP2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609512"> 609512 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/666?start=-3&limit=10&highlight=666"> 4q33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617892"> {Amyotrophic lateral sclerosis, susceptibility to, 24} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617892"> 617892 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604588"> NEK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604588"> 604588 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/516?start=-3&limit=10&highlight=516"> 5q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606070"> Amyotrophic lateral sclerosis 21 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606070"> 606070 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164015"> MATR3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164015"> 164015 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/837?start=-3&limit=10&highlight=837"> 5q35.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616437"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616437"> 616437 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601530"> SQSTM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601530"> 601530 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/769?start=-3&limit=10&highlight=769"> 6q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612577"> Amyotrophic lateral sclerosis 11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612577"> 612577 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609390"> FIG4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609390"> 609390 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/466?start=-3&limit=10&highlight=466"> 8q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620452"> Amyotrophic lateral sclerosis 28 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620452"> 620452 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618299"> LRP12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618299"> 618299 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/117?start=-3&limit=10&highlight=117"> 9p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105550"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105550"> 105550 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614260"> C9orf72 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614260"> 614260 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/152?start=-3&limit=10&highlight=152"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614373"> ?Amyotrophic lateral sclerosis 16, juvenile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614373"> 614373 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601978"> SIGMAR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601978"> 601978 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/160?start=-3&limit=10&highlight=160"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613954"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613954"> 613954 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601023"> VCP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601023"> 601023 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/301?start=-3&limit=10&highlight=301"> 9q22.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620285"> Amyotrophic lateral sclerosis 27, juvenile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620285"> 620285 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605712"> SPTLC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605712"> 605712 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/594?start=-3&limit=10&highlight=594"> 9q34.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602433"> Amyotrophic lateral sclerosis 4, juvenile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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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/602433"> 602433 </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/608465"> SETX </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/608465"> 608465 </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/10/61?start=-3&limit=10&highlight=61"> 10p13 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/613435"> Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia </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>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
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</span>
|
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</td>
|
|
<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/613435"> 613435 </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/602432"> OPTN </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/602432"> 602432 </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/10/336?start=-3&limit=10&highlight=336"> 10q22.3 </a>
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|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617839"> Amyotrophic lateral sclerosis 23 </a>
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617839"> 617839 </a>
|
|
</span>
|
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</td>
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|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602572"> ANXA11 </a>
|
|
</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/602572"> 602572 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<a href="/geneMap/12/353?start=-3&limit=10&highlight=353"> 12q13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> {Amyotrophic lateral sclerosis, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105400"> 105400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/170710"> PRPH </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/170710"> 170710 </a>
|
|
</span>
|
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</td>
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</tr>
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|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/462?start=-3&limit=10&highlight=462"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615426"> Amyotrophic lateral sclerosis 20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615426"> 615426 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164017"> HNRNPA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164017"> 164017 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/547?start=-3&limit=10&highlight=547"> 12q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617921"> {Amyotrophic lateral sclerosis, susceptibility to, 25} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617921"> 617921 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602821"> KIF5A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602821"> 602821 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/581?start=-3&limit=10&highlight=581"> 12q14.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616439"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616439"> 616439 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604834"> TBK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604834"> 604834 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/812?start=-3&limit=10&highlight=812"> 12q24.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> Spinocerebellar ataxia 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> 183090 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> ATXN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> 601517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/812?start=-3&limit=10&highlight=812"> 12q24.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> {Amyotrophic lateral sclerosis, susceptibility to, 13} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/183090"> 183090 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> ATXN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601517"> 601517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/35?start=-3&limit=10&highlight=35"> 14q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611895"> Amyotrophic lateral sclerosis 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611895"> 611895 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105850"> ANG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/105850"> 105850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/168?start=-3&limit=10&highlight=168"> 15q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602099"> Amyotrophic lateral sclerosis 5, juvenile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602099"> 602099 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610844"> SPG11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610844"> 610844 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/106?start=-3&limit=10&highlight=106"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619141"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619141"> 619141 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600227"> CCNF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600227"> 600227 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/384?start=-3&limit=10&highlight=384"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608030"> Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608030"> 608030 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137070"> FUS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137070"> 137070 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/430?start=-3&limit=10&highlight=430"> 16q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619132"> ?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
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<a href="/entry/619132"> 619132 </a>
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<a href="/entry/605018"> CYLD </a>
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<a href="/entry/605018"> 605018 </a>
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<a href="/geneMap/17/95?start=-3&limit=10&highlight=95"> 17p13.2 </a>
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<span class="mim-font">
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<a href="/entry/614808"> Amyotrophic lateral sclerosis 18 </a>
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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 class="mim-font">
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<a href="/entry/614808"> 614808 </a>
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<a href="/entry/176610"> PFN1 </a>
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<a href="/entry/176610"> 176610 </a>
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<span class="mim-font">
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<a href="/entry/606640"> Amyotrophic lateral sclerosis 3 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
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<a href="/entry/606640"> 606640 </a>
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<span class="mim-font">
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<a href="/entry/606640"> ALS3 </a>
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<span class="mim-font">
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<a href="/entry/606640"> 606640 </a>
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<a href="/geneMap/20/2?start=-3&limit=10&highlight=2"> 20p13 </a>
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<span class="mim-font">
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<a href="/entry/608031"> Amyotrophic lateral sclerosis 7 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
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<a href="/entry/608031"> 608031 </a>
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<span class="mim-font">
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<a href="/entry/608031"> ALS7 </a>
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<span class="mim-font">
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<a href="/entry/608031"> 608031 </a>
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<span class="mim-font">
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<a href="/geneMap/20/421?start=-3&limit=10&highlight=421"> 20q13.32 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/608627"> Amyotrophic lateral sclerosis 8 </a>
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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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<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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<td>
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<span class="mim-font">
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<a href="/entry/608627"> 608627 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/605704"> VAPBC </a>
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<span class="mim-font">
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<a href="/entry/605704"> 605704 </a>
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<span class="mim-font">
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<a href="/geneMap/21/54?start=-3&limit=10&highlight=54"> 21q22.11 </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/105400"> Amyotrophic lateral sclerosis 1 </a>
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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>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<td>
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<span class="mim-font">
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<a href="/entry/105400"> 105400 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/147450"> SOD1 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/147450"> 147450 </a>
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<span class="mim-font">
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<a href="/geneMap/22/101?start=-3&limit=10&highlight=101"> 22q11.23 </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/615911"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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 class="mim-font">
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<a href="/entry/615911"> 615911 </a>
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<span class="mim-font">
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<a href="/entry/615903"> CHCHD10 </a>
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<span class="mim-font">
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<a href="/entry/615903"> 615903 </a>
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<span class="mim-font">
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<a href="/geneMap/22/152?start=-3&limit=10&highlight=152"> 22q12.2 </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/105400"> {?Amyotrophic lateral sclerosis, susceptibility to} </a>
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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>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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 class="mim-font">
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<a href="/entry/105400"> 105400 </a>
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<span class="mim-font">
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<a href="/entry/162230"> NEFH </a>
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<span class="mim-font">
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<a href="/entry/162230"> 162230 </a>
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<a href="/geneMap/X/350?start=-3&limit=10&highlight=350"> Xp11.21 </a>
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<span class="mim-font">
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<a href="/entry/300857"> Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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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 class="mim-font">
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<a href="/entry/300857"> 300857 </a>
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<span class="mim-font">
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<a href="/entry/300264"> UBQLN2 </a>
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<span class="mim-font">
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<a href="/entry/300264"> 300264 </a>
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<span class="mim-font">
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Not Mapped
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<td>
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<span class="mim-font">
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<a href="/entry/205200"> Amyotrophic lateral sclerosis, juvenile, with dementia </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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<span class="mim-font">
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<span class="mim-font">
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<a href="/entry/205200"> 205200 </a>
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<span class="mim-font">
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<a href="/entry/205200"> ALSDC </a>
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<span class="mim-font">
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<a href="/entry/205200"> 205200 </a>
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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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<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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</h4>
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<p>A number sign (#) is used with this entry because juvenile amyotrophic lateral sclerosis-2 (ALS2) can be caused by homozygous mutation in the gene encoding alsin (ALS2; <a href="/entry/606352">606352</a>) on chromosome 2q33.</p><p>Juvenile primary lateral sclerosis (PLSJ; <a href="/entry/606353">606353</a>) and infantile-onset ascending spastic paralysis (IAHSP; <a href="/entry/607225">607225</a>) are allelic disorders with overlapping phenotypes.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (<a href="/entry/105400">105400</a>).</p>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Clinical Features</strong>
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<p>In an Amish isolate, <a href="#2" class="mim-tip-reference" title="Gragg, G. W., Fogelson, M. H., Zwirecki, R. J. <strong>Juvenile amyotrophic lateral sclerosis in 2 brothers from an inbred community.</strong> Birth Defects Orig. Art. Ser. 7: 222-225, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173366</a>]" pmid="5173366">Gragg et al. (1971)</a> observed 2 brothers with onset in the first decade of the ALS symptom complex: distal muscular atrophy, increased deep tendon reflexes, spasticity, and fasciculations. <a href="#9" class="mim-tip-reference" title="Refsum, S., Skillicorn, S. A. <strong>Amyotrophic familial spastic paraplegia.</strong> Neurology 4: 40-47, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13133050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13133050</a>] [<a href="https://doi.org/10.1212/wnl.4.1.40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13133050">Refsum and Skillicorn (1954)</a> described the same phenotype in 2 brothers and a sister, with onset between 3 and 5 years of age. They stated that the condition was indistinguishable from amyotrophic lateral sclerosis (ALS; <a href="/entry/105400">105400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5173366+13133050" 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>Hentati et al. (<a href="#6" class="mim-tip-reference" title="Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Yen-Hung, W., Figlewicz, D. A., Ben Hamida, C., Ben Hamida, M., Brown, R. H., Jr., Siddique, T. <strong>The gene locus for one form of juvenile amyotrophic lateral sclerosis maps to chromosome 2. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A33 only, 1992."None>1992</a>, <a href="#5" class="mim-tip-reference" title="Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Speer, M. C., Hung, W.-Y., Figlewicz, D. A., Haines, J., Rimmler, J., Ben Hamida, C., Ben Hamida, M., Brown, R. H., Jr., Siddique, T. <strong>Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.</strong> Nature Genet. 7: 425-428, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920663</a>] [<a href="https://doi.org/10.1038/ng0794-425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920663">1994</a>) reported a Tunisian family in which 10 members had juvenile-onset ALS with symptoms beginning between ages 3 and 23 years. The disorder was characterized by progressive spasticity of the limb, facial, and pharyngeal muscles with spastic gait and spastic dysarthria. Some patients had amyotrophy of the hands and peroneal muscles. Several patients had uncontrolled laughter and weeping, consistent with pseudobulbar symptoms. This family had also been reported in a larger series of affected families by <a href="#1" class="mim-tip-reference" title="Ben Hamida, M., Hentati, F., Ben Hamida, C. <strong>Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis): conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy.</strong> Brain 113: 347-363, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2328408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2328408</a>] [<a href="https://doi.org/10.1093/brain/113.2.347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2328408">Ben Hamida et al. (1990)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7920663+2328408" 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="Kress, J. A., Kuhnlein, P., Winter, P., Ludolph, A. C., Kassubek, J., Muller, U., Sperfeld, A.-D. <strong>Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.</strong> Ann. Neurol. 58: 800-803, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16240357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16240357</a>] [<a href="https://doi.org/10.1002/ana.20665" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16240357">Kress et al. (2005)</a> reported a Turkish man, born of consanguineous parents, with juvenile ALS confirmed by mutation in the ALS2 gene (<a href="/entry/606352#0011">606352.0011</a>). He had a severe disease course with onset at age 2 years of difficulty walking, spastic gait, hyperreflexia, and extensor plantar responses. Spastic tetraparesis and pseudobulbar paralysis developed at ages 12 and 15 years, respectively. He became wheelchair-bound at age 16 and anarthric at 18. He also had mild distal amyotrophy of the upper and lower limbs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16240357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Shirakawa, K., Suzuki, H., Ito, M., Kono, S., Uchiyama, T., Ohashi, T., Miyajima, H. <strong>Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan.</strong> Neurology 73: 2124-2126, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20018642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20018642</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181c67be0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20018642">Shirakawa et al. (2009)</a> reported 2 Japanese brothers, born of unrelated parents, with juvenile ALS. The older brother, who was more severely affected, started walking on tiptoes at age 13 months and had never run. He developed dysarthria at age 11 years and lost the ability to speak at 14. At age 32, he had lower limb spasticity, extensor plantar responses, and complete paralysis of the tongue. He had mild signs of lower motor neuron involvement, with distal muscle atrophy of the limbs, and normal cognition. The younger brother had a milder disease course, with walking at age 3 years, but ability to participate in gym during elementary school. At age 23, he had unintelligible speech, mild muscle atrophy in the extremities, and normal cognition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20018642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Sheerin, U.-M., Schneider, S. A., Carr, L., Deuschl, G., Hopfner, F., Stamelou, M., Wood, N. W., Bhatia, K. P. <strong>ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.</strong> Neurology 82: 1065-1067, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24562058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24562058</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24562058">Sheerin et al. (2014)</a> reported 2 unrelated consanguineous families in which a sib pair had ALS2 manifest as severe spastic quadriparesis and generalized dystonia. Two sibs of Bangladeshi descent had upper and lower limb spasticity that began in early childhood. The sister had global developmental delay and did not walk by age 2 years, whereas the brother had normal motor milestones and started toe-walking at age 12 months. At age 13 years, the sister was wheelchair-bound with marked limb spasticity, contractures, dystonia, nystagmus, anarthria, and distal lower-limb wasting, suggesting lower motor neuron involvement. At age 7 years, the brother had limb spasticity with clonus and dystonia, ataxia, and hyperreflexia. Both patients also had mild microcephaly. An unrelated 32-year-old Turkish man was severely affected. He had difficulty walking at age 2 to 3 years and became wheelchair-bound at age 8. The disorder was progressive, and he became anarthric with dysphagia, profound muscle weakness and atrophy, contractures, spasticity, dystonia, opisthotonus, and retrocollis. Deep-brain stimulation did not result in improvement. Cognition appeared intact. His sister was reportedly similarly affected. <a href="#10" class="mim-tip-reference" title="Sheerin, U.-M., Schneider, S. A., Carr, L., Deuschl, G., Hopfner, F., Stamelou, M., Wood, N. W., Bhatia, K. P. <strong>ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.</strong> Neurology 82: 1065-1067, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24562058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24562058</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24562058">Sheerin et al. (2014)</a> noted that these patients exhibited dystonia in addition to classic signs of ALS, thus expanding the phenotypic spectrum associated with ALS2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24562058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage analysis of a large consanguineous Tunisian family with juvenile ALS, <a href="#6" class="mim-tip-reference" title="Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Yen-Hung, W., Figlewicz, D. A., Ben Hamida, C., Ben Hamida, M., Brown, R. H., Jr., Siddique, T. <strong>The gene locus for one form of juvenile amyotrophic lateral sclerosis maps to chromosome 2. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A33 only, 1992."None>Hentati et al. (1992)</a> established linkage to chromosome 2q33-q35 (maximum lod score of 7.67 at marker D2S72). Haplotype analysis indicated a 20- to 25-cM interval between CRYG (<a href="/entry/123660">123660</a>) and COL3A1 (<a href="/entry/120180">120180</a>). By further linkage analysis in this family, <a href="#5" class="mim-tip-reference" title="Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Speer, M. C., Hung, W.-Y., Figlewicz, D. A., Haines, J., Rimmler, J., Ben Hamida, C., Ben Hamida, M., Brown, R. H., Jr., Siddique, T. <strong>Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.</strong> Nature Genet. 7: 425-428, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920663</a>] [<a href="https://doi.org/10.1038/ng0794-425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920663">Hentati et al. (1994)</a> refined the ALS2 locus to an 8-cM region between D2S115 and D2S155. By linkage and haplotype analyses, <a href="#7" class="mim-tip-reference" title="Hosler, B. A., Sapp, P. C., Berger, R., O'Neill, G., Bejaoui, K., Ben Hamida, M., Hentati, F., Chin, W., McKenna-Yasek, D., Haines, J. L., Patterson, D., Horvitz, H. R., Brown, R. H., Jr. <strong>Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33.</strong> Neurogenetics 2: 34-42, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9933298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9933298</a>] [<a href="https://doi.org/10.1007/s100480050049" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9933298">Hosler et al. (1998)</a> refined the ALS2 locus to a 1.7-cM region. <a href="#4" class="mim-tip-reference" title="Hadano, W., Nichol, K., Brinkman, R. R., Nasir, J., Martindale, D., Koop, B. F., Nicholson, D. W., Scherer, S. W., Ikeda, J.-E., Hayden, M. R. <strong>A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34.</strong> Genomics 55: 106-112, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9889004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9889004</a>] [<a href="https://doi.org/10.1006/geno.1998.5637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9889004">Hadano et al. (1999)</a> assigned the ALS2 gene to 2q33-q34 by inclusion within a YAC contig. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7920663+9933298+9889004" 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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<div class="mim-changed mim-change"><p>The transmission pattern of ALS2 in the Tunisian family (family 1212) reported by <a href="#12" class="mim-tip-reference" title="Yang, Y., Hentati, A., Deng, H.-X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.-Y., Ouahchi, K., Yan, J., Azim, A. C., Cole, N., Gascon, G., Yagmour, A., Ben-Hamida, M., Pericak-Vance, M., Hentati, F., Siddique, T. <strong>The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.</strong> Nature Genet. 29: 160-165, 2001. Note: Erratum: Nature Genet. 29: 352 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586297</a>] [<a href="https://doi.org/10.1038/ng1001-160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11586297">Yang et al. (2001)</a> was consistent with autosomal recessive inheritance. The family had previously been reported by <a href="#1" class="mim-tip-reference" title="Ben Hamida, M., Hentati, F., Ben Hamida, C. <strong>Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis): conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy.</strong> Brain 113: 347-363, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2328408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2328408</a>] [<a href="https://doi.org/10.1093/brain/113.2.347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2328408">Ben Hamida et al. (1990)</a> and <a href="#5" class="mim-tip-reference" title="Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Speer, M. C., Hung, W.-Y., Figlewicz, D. A., Haines, J., Rimmler, J., Ben Hamida, C., Ben Hamida, M., Brown, R. H., Jr., Siddique, T. <strong>Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.</strong> Nature Genet. 7: 425-428, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920663</a>] [<a href="https://doi.org/10.1038/ng0794-425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920663">Hentati et al. (1994)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7920663+2328408+11586297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<p>In affected members of the Tunisian family reported by <a href="#1" class="mim-tip-reference" title="Ben Hamida, M., Hentati, F., Ben Hamida, C. <strong>Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis): conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy.</strong> Brain 113: 347-363, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2328408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2328408</a>] [<a href="https://doi.org/10.1093/brain/113.2.347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2328408">Ben Hamida et al. (1990)</a> and Hentati et al. (<a href="#6" class="mim-tip-reference" title="Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Yen-Hung, W., Figlewicz, D. A., Ben Hamida, C., Ben Hamida, M., Brown, R. H., Jr., Siddique, T. <strong>The gene locus for one form of juvenile amyotrophic lateral sclerosis maps to chromosome 2. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A33 only, 1992."None>1992</a>, <a href="#5" class="mim-tip-reference" title="Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Speer, M. C., Hung, W.-Y., Figlewicz, D. A., Haines, J., Rimmler, J., Ben Hamida, C., Ben Hamida, M., Brown, R. H., Jr., Siddique, T. <strong>Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.</strong> Nature Genet. 7: 425-428, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920663</a>] [<a href="https://doi.org/10.1038/ng0794-425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920663">1994</a>), <a href="#12" class="mim-tip-reference" title="Yang, Y., Hentati, A., Deng, H.-X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.-Y., Ouahchi, K., Yan, J., Azim, A. C., Cole, N., Gascon, G., Yagmour, A., Ben-Hamida, M., Pericak-Vance, M., Hentati, F., Siddique, T. <strong>The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.</strong> Nature Genet. 29: 160-165, 2001. Note: Erratum: Nature Genet. 29: 352 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586297</a>] [<a href="https://doi.org/10.1038/ng1001-160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11586297">Yang et al. (2001)</a> and <a href="#3" class="mim-tip-reference" title="Hadano, S., Hand, C. K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R. S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., Figlewicz, D. A., Kwiatkowski, T., and 9 others. <strong>A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.</strong> Nature Genet. 29: 166-173, 2001. Note: Erratum: Nature Genet. 29: 352 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586298</a>] [<a href="https://doi.org/10.1038/ng1001-166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11586298">Hadano et al. (2001)</a> identified a homozygous mutation in the ALS2 gene (<a href="/entry/606352#0001">606352.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7920663+2328408+11586298+11586297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 pairs of sibs from 2 unrelated consanguineous families with severe juvenile ALS associated with dystonia, <a href="#10" class="mim-tip-reference" title="Sheerin, U.-M., Schneider, S. A., Carr, L., Deuschl, G., Hopfner, F., Stamelou, M., Wood, N. W., Bhatia, K. P. <strong>ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.</strong> Neurology 82: 1065-1067, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24562058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24562058</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24562058">Sheerin et al. (2014)</a> identified 2 different homozygous truncating mutations in the ALS2 gene (G668X, <a href="/entry/606352#0016">606352.0016</a> and c.4573dupG, <a href="/entry/606352#0017">606352.0017</a>). The mutation in 1 family was found by whole-exome sequencing, whereas the mutation in the other family was found by candidate gene sequencing. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24562058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Ben Hamida1990" class="mim-anchor"></a>
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<div class="">
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Ben Hamida, M., Hentati, F., Ben Hamida, C.
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<strong>Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis): conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy.</strong>
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Brain 113: 347-363, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2328408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2328408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2328408" 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/10.1093/brain/113.2.347" target="_blank">Full Text</a>]
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<a id="Gragg1971" class="mim-anchor"></a>
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Gragg, G. W., Fogelson, M. H., Zwirecki, R. J.
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<strong>Juvenile amyotrophic lateral sclerosis in 2 brothers from an inbred community.</strong>
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Birth Defects Orig. Art. Ser. 7: 222-225, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5173366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5173366</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5173366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Hadano2001" class="mim-anchor"></a>
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Hadano, S., Hand, C. K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R. S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., Figlewicz, D. A., Kwiatkowski, T., and 9 others.
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<strong>A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.</strong>
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Nature Genet. 29: 166-173, 2001. Note: Erratum: Nature Genet. 29: 352 only, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11586298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1001-166" target="_blank">Full Text</a>]
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<a id="Hadano1999" class="mim-anchor"></a>
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Hadano, W., Nichol, K., Brinkman, R. R., Nasir, J., Martindale, D., Koop, B. F., Nicholson, D. W., Scherer, S. W., Ikeda, J.-E., Hayden, M. R.
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<strong>A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34.</strong>
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Genomics 55: 106-112, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9889004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9889004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9889004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1998.5637" target="_blank">Full Text</a>]
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<a id="Hentati1994" class="mim-anchor"></a>
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Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Speer, M. C., Hung, W.-Y., Figlewicz, D. A., Haines, J., Rimmler, J., Ben Hamida, C., Ben Hamida, M., Brown, R. H., Jr., Siddique, T.
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<strong>Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.</strong>
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Nature Genet. 7: 425-428, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7920663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0794-425" target="_blank">Full Text</a>]
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<a id="Hentati1992" class="mim-anchor"></a>
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Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Yen-Hung, W., Figlewicz, D. A., Ben Hamida, C., Ben Hamida, M., Brown, R. H., Jr., Siddique, T.
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<strong>The gene locus for one form of juvenile amyotrophic lateral sclerosis maps to chromosome 2. (Abstract)</strong>
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Am. J. Hum. Genet. 51 (suppl.): A33 only, 1992.
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<a id="Hosler1998" class="mim-anchor"></a>
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Hosler, B. A., Sapp, P. C., Berger, R., O'Neill, G., Bejaoui, K., Ben Hamida, M., Hentati, F., Chin, W., McKenna-Yasek, D., Haines, J. L., Patterson, D., Horvitz, H. R., Brown, R. H., Jr.
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<strong>Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33.</strong>
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Neurogenetics 2: 34-42, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9933298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9933298</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9933298" 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/s100480050049" target="_blank">Full Text</a>]
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<a id="Kress2005" class="mim-anchor"></a>
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Kress, J. A., Kuhnlein, P., Winter, P., Ludolph, A. C., Kassubek, J., Muller, U., Sperfeld, A.-D.
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<strong>Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.</strong>
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Ann. Neurol. 58: 800-803, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16240357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16240357</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16240357" 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.20665" target="_blank">Full Text</a>]
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<a id="Refsum1954" class="mim-anchor"></a>
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Refsum, S., Skillicorn, S. A.
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<strong>Amyotrophic familial spastic paraplegia.</strong>
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Neurology 4: 40-47, 1954.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13133050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13133050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13133050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.4.1.40" target="_blank">Full Text</a>]
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<a id="Sheerin2014" class="mim-anchor"></a>
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Sheerin, U.-M., Schneider, S. A., Carr, L., Deuschl, G., Hopfner, F., Stamelou, M., Wood, N. W., Bhatia, K. P.
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<strong>ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.</strong>
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Neurology 82: 1065-1067, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24562058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24562058</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24562058" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0000000000000254" target="_blank">Full Text</a>]
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<a id="Shirakawa2009" class="mim-anchor"></a>
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Shirakawa, K., Suzuki, H., Ito, M., Kono, S., Uchiyama, T., Ohashi, T., Miyajima, H.
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<strong>Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan.</strong>
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Neurology 73: 2124-2126, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20018642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20018642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20018642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e3181c67be0" target="_blank">Full Text</a>]
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<a id="Yang2001" class="mim-anchor"></a>
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Yang, Y., Hentati, A., Deng, H.-X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.-Y., Ouahchi, K., Yan, J., Azim, A. C., Cole, N., Gascon, G., Yagmour, A., Ben-Hamida, M., Pericak-Vance, M., Hentati, F., Siddique, T.
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<strong>The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.</strong>
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Nature Genet. 29: 160-165, 2001. Note: Erratum: Nature Genet. 29: 352 only, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11586297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1001-160" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 2/25/2015
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Cassandra L. Kniffin - updated : 3/10/2011<br>Cassandra L. Kniffin - reorganized : 3/10/2006<br>Cassandra L. Kniffin - updated : 3/7/2006<br>Victor A. McKusick - updated : 9/28/2001<br>Victor A. McKusick - updated : 4/12/1999<br>Ada Hamosh - updated : 4/2/1999<br>Carol A. Bocchini - updated : 3/7/1999<br>Joanna S. Amberger - updated : 6/19/1998
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Creation Date:
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Victor A. McKusick : 6/3/1986
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carol : 12/10/2024
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carol : 06/04/2022<br>carol : 01/05/2021<br>carol : 09/07/2016<br>carol : 03/02/2015<br>mcolton : 2/25/2015<br>ckniffin : 2/25/2015<br>carol : 7/19/2012<br>alopez : 9/22/2011<br>terry : 3/17/2011<br>terry : 3/17/2011<br>wwang : 3/16/2011<br>ckniffin : 3/10/2011<br>carol : 3/10/2006<br>ckniffin : 3/7/2006<br>tkritzer : 2/24/2004<br>ckniffin : 2/5/2004<br>mgross : 11/8/2002<br>alopez : 11/5/2001<br>alopez : 10/4/2001<br>terry : 9/28/2001<br>carol : 4/12/1999<br>mgross : 4/8/1999<br>mgross : 4/2/1999<br>carol : 3/11/1999<br>terry : 3/9/1999<br>carol : 3/7/1999<br>carol : 6/19/1998<br>jenny : 11/5/1997<br>mimadm : 11/12/1995<br>carol : 10/29/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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<strong>#</strong> 205100
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<h3>
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AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
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<em>Alternative titles; symbols</em>
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ALS, JUVENILE; ALSJ
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 300605;
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<strong>DO:</strong> 0060194;
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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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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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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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Gene/Locus
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<td>
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<span class="mim-font">
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2q33.1
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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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Amyotrophic lateral sclerosis 2, juvenile
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</td>
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<span class="mim-font">
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205100
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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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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ALS2
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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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606352
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</span>
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</td>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because juvenile amyotrophic lateral sclerosis-2 (ALS2) can be caused by homozygous mutation in the gene encoding alsin (ALS2; 606352) on chromosome 2q33.</p><p>Juvenile primary lateral sclerosis (PLSJ; 606353) and infantile-onset ascending spastic paralysis (IAHSP; 607225) are allelic disorders with overlapping phenotypes.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).</p>
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<div>
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<h4>
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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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<span class="mim-text-font">
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<p>In an Amish isolate, Gragg et al. (1971) observed 2 brothers with onset in the first decade of the ALS symptom complex: distal muscular atrophy, increased deep tendon reflexes, spasticity, and fasciculations. Refsum and Skillicorn (1954) described the same phenotype in 2 brothers and a sister, with onset between 3 and 5 years of age. They stated that the condition was indistinguishable from amyotrophic lateral sclerosis (ALS; 105400). </p><p>Hentati et al. (1992, 1994) reported a Tunisian family in which 10 members had juvenile-onset ALS with symptoms beginning between ages 3 and 23 years. The disorder was characterized by progressive spasticity of the limb, facial, and pharyngeal muscles with spastic gait and spastic dysarthria. Some patients had amyotrophy of the hands and peroneal muscles. Several patients had uncontrolled laughter and weeping, consistent with pseudobulbar symptoms. This family had also been reported in a larger series of affected families by Ben Hamida et al. (1990). </p><p>Kress et al. (2005) reported a Turkish man, born of consanguineous parents, with juvenile ALS confirmed by mutation in the ALS2 gene (606352.0011). He had a severe disease course with onset at age 2 years of difficulty walking, spastic gait, hyperreflexia, and extensor plantar responses. Spastic tetraparesis and pseudobulbar paralysis developed at ages 12 and 15 years, respectively. He became wheelchair-bound at age 16 and anarthric at 18. He also had mild distal amyotrophy of the upper and lower limbs. </p><p>Shirakawa et al. (2009) reported 2 Japanese brothers, born of unrelated parents, with juvenile ALS. The older brother, who was more severely affected, started walking on tiptoes at age 13 months and had never run. He developed dysarthria at age 11 years and lost the ability to speak at 14. At age 32, he had lower limb spasticity, extensor plantar responses, and complete paralysis of the tongue. He had mild signs of lower motor neuron involvement, with distal muscle atrophy of the limbs, and normal cognition. The younger brother had a milder disease course, with walking at age 3 years, but ability to participate in gym during elementary school. At age 23, he had unintelligible speech, mild muscle atrophy in the extremities, and normal cognition. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Sheerin et al. (2014) reported 2 unrelated consanguineous families in which a sib pair had ALS2 manifest as severe spastic quadriparesis and generalized dystonia. Two sibs of Bangladeshi descent had upper and lower limb spasticity that began in early childhood. The sister had global developmental delay and did not walk by age 2 years, whereas the brother had normal motor milestones and started toe-walking at age 12 months. At age 13 years, the sister was wheelchair-bound with marked limb spasticity, contractures, dystonia, nystagmus, anarthria, and distal lower-limb wasting, suggesting lower motor neuron involvement. At age 7 years, the brother had limb spasticity with clonus and dystonia, ataxia, and hyperreflexia. Both patients also had mild microcephaly. An unrelated 32-year-old Turkish man was severely affected. He had difficulty walking at age 2 to 3 years and became wheelchair-bound at age 8. The disorder was progressive, and he became anarthric with dysphagia, profound muscle weakness and atrophy, contractures, spasticity, dystonia, opisthotonus, and retrocollis. Deep-brain stimulation did not result in improvement. Cognition appeared intact. His sister was reportedly similarly affected. Sheerin et al. (2014) noted that these patients exhibited dystonia in addition to classic signs of ALS, thus expanding the phenotypic spectrum associated with ALS2. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By linkage analysis of a large consanguineous Tunisian family with juvenile ALS, Hentati et al. (1992) established linkage to chromosome 2q33-q35 (maximum lod score of 7.67 at marker D2S72). Haplotype analysis indicated a 20- to 25-cM interval between CRYG (123660) and COL3A1 (120180). By further linkage analysis in this family, Hentati et al. (1994) refined the ALS2 locus to an 8-cM region between D2S115 and D2S155. By linkage and haplotype analyses, Hosler et al. (1998) refined the ALS2 locus to a 1.7-cM region. Hadano et al. (1999) assigned the ALS2 gene to 2q33-q34 by inclusion within a YAC contig. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of ALS2 in the Tunisian family (family 1212) reported by Yang et al. (2001) was consistent with autosomal recessive inheritance. The family had previously been reported by Ben Hamida et al. (1990) and Hentati et al. (1994). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of the Tunisian family reported by Ben Hamida et al. (1990) and Hentati et al. (1992, 1994), Yang et al. (2001) and Hadano et al. (2001) identified a homozygous mutation in the ALS2 gene (606352.0001). </p><p>In 2 pairs of sibs from 2 unrelated consanguineous families with severe juvenile ALS associated with dystonia, Sheerin et al. (2014) identified 2 different homozygous truncating mutations in the ALS2 gene (G668X, 606352.0016 and c.4573dupG, 606352.0017). The mutation in 1 family was found by whole-exome sequencing, whereas the mutation in the other family was found by candidate gene sequencing. Functional studies of the variants were not performed. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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<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>Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis): conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy.</strong>
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Brain 113: 347-363, 1990.
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[PubMed: 2328408]
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[Full Text: https://doi.org/10.1093/brain/113.2.347]
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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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Gragg, G. W., Fogelson, M. H., Zwirecki, R. J.
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<strong>Juvenile amyotrophic lateral sclerosis in 2 brothers from an inbred community.</strong>
|
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Birth Defects Orig. Art. Ser. 7: 222-225, 1971.
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[PubMed: 5173366]
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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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Hadano, S., Hand, C. K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R. S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., Figlewicz, D. A., Kwiatkowski, T., and 9 others.
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<strong>A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.</strong>
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Nature Genet. 29: 166-173, 2001. Note: Erratum: Nature Genet. 29: 352 only, 2001.
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[PubMed: 11586298]
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[Full Text: https://doi.org/10.1038/ng1001-166]
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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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Hadano, W., Nichol, K., Brinkman, R. R., Nasir, J., Martindale, D., Koop, B. F., Nicholson, D. W., Scherer, S. W., Ikeda, J.-E., Hayden, M. R.
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<strong>A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34.</strong>
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Genomics 55: 106-112, 1999.
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[PubMed: 9889004]
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[Full Text: https://doi.org/10.1006/geno.1998.5637]
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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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Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Speer, M. C., Hung, W.-Y., Figlewicz, D. A., Haines, J., Rimmler, J., Ben Hamida, C., Ben Hamida, M., Brown, R. H., Jr., Siddique, T.
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<strong>Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.</strong>
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Nature Genet. 7: 425-428, 1994.
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[PubMed: 7920663]
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[Full Text: https://doi.org/10.1038/ng0794-425]
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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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Hentati, A., Bejaoui, K., Pericak-Vance, M. A., Hentati, F., Yen-Hung, W., Figlewicz, D. A., Ben Hamida, C., Ben Hamida, M., Brown, R. H., Jr., Siddique, T.
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<strong>The gene locus for one form of juvenile amyotrophic lateral sclerosis maps to chromosome 2. (Abstract)</strong>
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Am. J. Hum. Genet. 51 (suppl.): A33 only, 1992.
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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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Hosler, B. A., Sapp, P. C., Berger, R., O'Neill, G., Bejaoui, K., Ben Hamida, M., Hentati, F., Chin, W., McKenna-Yasek, D., Haines, J. L., Patterson, D., Horvitz, H. R., Brown, R. H., Jr.
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<strong>Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33.</strong>
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Neurogenetics 2: 34-42, 1998.
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[PubMed: 9933298]
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[Full Text: https://doi.org/10.1007/s100480050049]
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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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Kress, J. A., Kuhnlein, P., Winter, P., Ludolph, A. C., Kassubek, J., Muller, U., Sperfeld, A.-D.
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<strong>Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.</strong>
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Ann. Neurol. 58: 800-803, 2005.
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[PubMed: 16240357]
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[Full Text: https://doi.org/10.1002/ana.20665]
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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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Refsum, S., Skillicorn, S. A.
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<strong>Amyotrophic familial spastic paraplegia.</strong>
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Neurology 4: 40-47, 1954.
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[PubMed: 13133050]
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[Full Text: https://doi.org/10.1212/wnl.4.1.40]
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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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Sheerin, U.-M., Schneider, S. A., Carr, L., Deuschl, G., Hopfner, F., Stamelou, M., Wood, N. W., Bhatia, K. P.
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<strong>ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.</strong>
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Neurology 82: 1065-1067, 2014.
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[PubMed: 24562058]
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[Full Text: https://doi.org/10.1212/WNL.0000000000000254]
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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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Shirakawa, K., Suzuki, H., Ito, M., Kono, S., Uchiyama, T., Ohashi, T., Miyajima, H.
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<strong>Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan.</strong>
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Neurology 73: 2124-2126, 2009.
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[PubMed: 20018642]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181c67be0]
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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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Yang, Y., Hentati, A., Deng, H.-X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.-Y., Ouahchi, K., Yan, J., Azim, A. C., Cole, N., Gascon, G., Yagmour, A., Ben-Hamida, M., Pericak-Vance, M., Hentati, F., Siddique, T.
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<strong>The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.</strong>
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Nature Genet. 29: 160-165, 2001. Note: Erratum: Nature Genet. 29: 352 only, 2001.
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[PubMed: 11586297]
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[Full Text: https://doi.org/10.1038/ng1001-160]
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</p>
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</li>
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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 : 2/25/2015<br>Cassandra L. Kniffin - updated : 3/10/2011<br>Cassandra L. Kniffin - reorganized : 3/10/2006<br>Cassandra L. Kniffin - updated : 3/7/2006<br>Victor A. McKusick - updated : 9/28/2001<br>Victor A. McKusick - updated : 4/12/1999<br>Ada Hamosh - updated : 4/2/1999<br>Carol A. Bocchini - updated : 3/7/1999<br>Joanna S. Amberger - updated : 6/19/1998
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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 class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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<span class="text-nowrap mim-text-font">
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Edit History:
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carol : 12/10/2024<br>carol : 06/04/2022<br>carol : 01/05/2021<br>carol : 09/07/2016<br>carol : 03/02/2015<br>mcolton : 2/25/2015<br>ckniffin : 2/25/2015<br>carol : 7/19/2012<br>alopez : 9/22/2011<br>terry : 3/17/2011<br>terry : 3/17/2011<br>wwang : 3/16/2011<br>ckniffin : 3/10/2011<br>carol : 3/10/2006<br>ckniffin : 3/7/2006<br>tkritzer : 2/24/2004<br>ckniffin : 2/5/2004<br>mgross : 11/8/2002<br>alopez : 11/5/2001<br>alopez : 10/4/2001<br>terry : 9/28/2001<br>carol : 4/12/1999<br>mgross : 4/8/1999<br>mgross : 4/2/1999<br>carol : 3/11/1999<br>terry : 3/9/1999<br>carol : 3/7/1999<br>carol : 6/19/1998<br>jenny : 11/5/1997<br>mimadm : 11/12/1995<br>carol : 10/29/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988
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