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<title>
Entry
- #602099 - AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5
- OMIM
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<span class="h4">#602099</span>
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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/602099"><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="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<div><a href="https://clinicaltrials.gov/search?cond=(AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE) OR (SPG11)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.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>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1450/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602099[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060197" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/602099" 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 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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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 300605<br />
<strong>DO:</strong> 0060197<br />
">ICD+</a>
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
602099
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<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5
</span>
</h3>
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<div>
<br />
</div>
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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</h4>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/168?start=-3&limit=10&highlight=168">
15q21.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Amyotrophic lateral sclerosis 5, juvenile
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602099"> 602099 </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">
SPG11
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610844"> 610844 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="/clinicalSynopsis/602099" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<a href="/phenotypicSeries/PS105400" class="btn btn-info" role="button"> Phenotypic Series </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/602099" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/602099" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Increased facial reflexes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230623</a>]</span><br /> -
Jaw spasticity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230622&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230622</a>]</span><br /> -
Weak masseter muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230621</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Tongue weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277232&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277232</a>]</span><br /> -
Poor palatal elevation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227456</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Respiratory failure due to muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806467</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002747</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002747</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span><br />
</span>
</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">
- Distal muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427065</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span><br /> -
Distal muscle atrophy <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 /> -
Chronic neurogenic changes seen on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230624</a>]</span><br /> -
Fibrillations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40593004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40593004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232197&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232197</a>]</span><br /> -
Fasciculations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82470000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82470000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015644&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015644</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002380" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002380</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002380" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002380</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 /> -
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 /> -
Pyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14648003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14648003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span><br /> -
Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</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 /> -
Bulbar signs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856507</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002483" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002483</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002483" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002483</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 /> -
No cognitive impairment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230628</a>]</span><br /> -
No thinning of corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230627&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230627</a>]</span><br /> -
Loss of anterior horn cells in the spinal cord <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843505</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002398" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002398</a>]</span><br /> -
Loss of myelinated fibers in the anterolateral columns <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230626&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230626</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Decreased amplitude of compound muscle action potentials <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230625&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230625</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033383" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033383</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset in first or second decade<br /> -
Slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
Some patients may become wheelchair-bound<br /> -
Survival 30 to 40 years after onset<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the spatacsin gene (SPG11, <a href="/entry/610844#0003">610844.0003</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Amyotrophic lateral sclerosis
- <a href="/phenotypicSeries/PS105400">PS105400</a>
- 40 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/143?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>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/205100"> 205100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606352"> ALS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606352"> 606352 </a>
</span>
</td>
</tr>
<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>
</td>
<td>
<span class="mim-font">
<a href="/entry/600543"> ERBB4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600543"> 600543 </a>
</span>
</td>
</tr>
<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>
</span>
</td>
</tr>
<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>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602433"> 602433 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608465"> SETX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608465"> 608465 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/61?start=-3&limit=10&highlight=61"> 10p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613435"> Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia </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/613435"> 613435 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602432"> OPTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602432"> 602432 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/336?start=-3&limit=10&highlight=336"> 10q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617839"> Amyotrophic lateral sclerosis 23 </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/617839"> 617839 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602572"> ANXA11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602572"> 602572 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<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>
</td>
</tr>
<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/12/813?start=-3&limit=10&highlight=813"> 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/12/813?start=-3&limit=10&highlight=813"> 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/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>
<span class="mim-font">
<a href="/entry/619132"> 619132 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605018"> CYLD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605018"> 605018 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/95?start=-3&limit=10&highlight=95"> 17p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614808"> Amyotrophic lateral sclerosis 18 </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/614808"> 614808 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176610"> PFN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176610"> 176610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/155?start=-3&limit=10&highlight=155"> 18q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606640"> 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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606640"> 606640 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606640"> ALS3 </a>
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<span class="mim-font">
<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">
<a href="/entry/608031"> Amyotrophic lateral sclerosis 7 </a>
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<span class="mim-font">
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<span class="mim-font">
<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">
<a href="/entry/608031"> 608031 </a>
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<span class="mim-font">
<a href="/entry/608031"> ALS7 </a>
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<span class="mim-font">
<a href="/entry/608031"> 608031 </a>
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<span class="mim-font">
<a href="/geneMap/20/421?start=-3&limit=10&highlight=421"> 20q13.32 </a>
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<span class="mim-font">
<a href="/entry/608627"> Amyotrophic lateral sclerosis 8 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/608627"> 608627 </a>
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<a href="/entry/605704"> VAPBC </a>
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<span class="mim-font">
<a href="/entry/605704"> 605704 </a>
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<a href="/geneMap/21/54?start=-3&limit=10&highlight=54"> 21q22.11 </a>
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<span class="mim-font">
<a href="/entry/105400"> Amyotrophic lateral sclerosis 1 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/105400"> 105400 </a>
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<a href="/entry/147450"> SOD1 </a>
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<span class="mim-font">
<a href="/entry/147450"> 147450 </a>
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<a href="/geneMap/22/101?start=-3&limit=10&highlight=101"> 22q11.23 </a>
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<span class="mim-font">
<a href="/entry/615911"> Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/615911"> 615911 </a>
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<span class="mim-font">
<a href="/entry/615903"> CHCHD10 </a>
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<span class="mim-font">
<a href="/entry/615903"> 615903 </a>
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<span class="mim-font">
<a href="/geneMap/22/152?start=-3&limit=10&highlight=152"> 22q12.2 </a>
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<span class="mim-font">
<a href="/entry/105400"> {?Amyotrophic lateral sclerosis, susceptibility to} </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/105400"> 105400 </a>
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<span class="mim-font">
<a href="/entry/162230"> NEFH </a>
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<span class="mim-font">
<a href="/entry/162230"> 162230 </a>
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<span class="mim-font">
<a href="/geneMap/X/351?start=-3&limit=10&highlight=351"> Xp11.21 </a>
</span>
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<span class="mim-font">
<a href="/entry/300857"> Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia </a>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/300857"> 300857 </a>
</span>
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<span class="mim-font">
<a href="/entry/300264"> UBQLN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300264"> 300264 </a>
</span>
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<tr>
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<span class="mim-font">
Not Mapped
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<span class="mim-font">
<a href="/entry/205200"> Amyotrophic lateral sclerosis, juvenile, with dementia </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
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<span class="mim-font">
</span>
</td>
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<span class="mim-font">
<a href="/entry/205200"> 205200 </a>
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<span class="mim-font">
<a href="/entry/205200"> ALSDC </a>
</span>
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<span class="mim-font">
<a href="/entry/205200"> 205200 </a>
</span>
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</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<div>
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<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is caused by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11; <a href="/entry/610844">610844</a>) on chromosome 15q21.</p><p>Biallelic mutation in the SPG11 gene can also cause autosomal recessive hereditary spastic paraplegia-11 (SPG11; <a href="/entry/604360">604360</a>) and autosomal recessive axonal Charcot-Marie-Tooth type 2X (CMT2X; <a href="/entry/616668">616668</a>), different neurodegenerative disorders with overlapping features.</p>
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<div>
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</div>
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<div>
<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by <a href="#3" class="mim-tip-reference" title="Orlacchio, A., Babalini, C., Borreca, A., Patrono, C., Massa, R., Basaran, S., Munhoz, R. P., Rogaeva, E. A., St George-Hyslop, P. H., Bernardi, G., Kawarai, T. &lt;strong&gt;SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.&lt;/strong&gt; Brain 133: 591-598, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20110243/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20110243&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awp325&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20110243">Orlacchio et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20110243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (<a href="/entry/105400">105400</a>).</p>
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<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#2" class="mim-tip-reference" title="Hentati, A., Ouahchi, K., Pericak-Vance, M. A., Nijhawan, D., Ahmad, A., Yang, Y., Rimmler, J., Hung, W.-Y., Schlotter, B., Ahmed, A., Ben Hamida, M., Hentati, F., Siddique, T. &lt;strong&gt;Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers.&lt;/strong&gt; Neurogenetics 2: 55-60, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9933301/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9933301&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s100480050052&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9933301">Hentati et al. (1998)</a> reported 22 patients with ALS from 7 families; 4 were Tunisian (9926, 9927, 9929, and 9590), 2 were Pakistani (9658 and 9729), and 1 was German (9646). The patients from Tunisia and Pakistan presented at ages ranging from 8 to 18 years with difficulty in walking and with weakness. The disease was slowly progressive. In the German family, symptoms manifested before the age of 10 years in 1 patient and at 18 years in his brother and the disease was rapidly progressive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9933301" 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="#3" class="mim-tip-reference" title="Orlacchio, A., Babalini, C., Borreca, A., Patrono, C., Massa, R., Basaran, S., Munhoz, R. P., Rogaeva, E. A., St George-Hyslop, P. H., Bernardi, G., Kawarai, T. &lt;strong&gt;SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.&lt;/strong&gt; Brain 133: 591-598, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20110243/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20110243&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awp325&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20110243">Orlacchio et al. (2010)</a> reported 23 patients from 10 consanguineous families with ALS5. The families had various ethnic backgrounds, including Italian, Turkish, Brazilian, Japanese, and Canadian. Affected subjects had a slowly progressive motor neuronopathy with upper and lower motoneuron dysfunction. The mean age at onset was 16.3 years (range 7 to 23), and the mean disease duration was 34.3 years. Patients had distal muscle weakness and atrophy associated with pyramidal signs, including hyperreflexia, extensor plantar responses, and spastic gait. Some patients had mild upper and lower motoneuron symptoms, whereas others were more severely affected and wheelchair-bound with no functional hand use by the fifth or sixth decades. Most patients had pontobulbar signs, including jaw spasticity, increased facial reflexes, poor palatal elevation, weak masseter and/or pterygoids, and tongue weakness. Other features included Hoffman sign and muscle atrophy with fasciculations. EMG showed chronic neurogenic changes with fibrillation and fasciculation, and motor conduction studies showed reduced amplitudes of compound motor action potentials; sensory studies were normal. None of the patients had cognitive impairment or thin corpus callosum. Postmortem examination of 1 patient showed typical pathologic features of ALS, including small pyramids, loss of anterior horn large motor neurons and loss of large myelinated fibers in the anterolateral columns. Remaining neurons showed central chromatolysis, pigmentary degeneration, and round hyaline inclusions; Bunina bodies were not observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20110243" 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>
</span>
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<br />
</div>
</div>
<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Inheritance</strong>
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</h4>
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<p>The pedigree pattern in 7 families with ALS reported by <a href="#2" class="mim-tip-reference" title="Hentati, A., Ouahchi, K., Pericak-Vance, M. A., Nijhawan, D., Ahmad, A., Yang, Y., Rimmler, J., Hung, W.-Y., Schlotter, B., Ahmed, A., Ben Hamida, M., Hentati, F., Siddique, T. &lt;strong&gt;Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers.&lt;/strong&gt; Neurogenetics 2: 55-60, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9933301/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9933301&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s100480050052&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9933301">Hentati et al. (1998)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9933301" 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>
</span>
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<br />
</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
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<span class="mim-font">
<strong>Mapping</strong>
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</h4>
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<p>In 4 of 7 families with ALS that did not show linkage to previously identified ALS loci on chromosomes 2q33, 21q21 and 5q13, <a href="#2" class="mim-tip-reference" title="Hentati, A., Ouahchi, K., Pericak-Vance, M. A., Nijhawan, D., Ahmad, A., Yang, Y., Rimmler, J., Hung, W.-Y., Schlotter, B., Ahmed, A., Ben Hamida, M., Hentati, F., Siddique, T. &lt;strong&gt;Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers.&lt;/strong&gt; Neurogenetics 2: 55-60, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9933301/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9933301&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s100480050052&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9933301">Hentati et al. (1998)</a> found linkage to markers in the 15q15.1-q21.1 region. Negative lod scores were encountered in 3 of the families, 1 from Tunisia and 2 from Pakistan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9933301" 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>
<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 10 unrelated families with a protracted course of autosomal recessive juvenile-onset ALS5, <a href="#3" class="mim-tip-reference" title="Orlacchio, A., Babalini, C., Borreca, A., Patrono, C., Massa, R., Basaran, S., Munhoz, R. P., Rogaeva, E. A., St George-Hyslop, P. H., Bernardi, G., Kawarai, T. &lt;strong&gt;SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.&lt;/strong&gt; Brain 133: 591-598, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20110243/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20110243&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awp325&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20110243">Orlacchio et al. (2010)</a> identified homozygous or compound heterozygous mutations in the SPG11 gene (see, e.g., <a href="/entry/610844#0003">610844.0003</a>-<a href="/entry/610844#0004">610844.0004</a>, <a href="/entry/610844#0010">610844.0010</a>-<a href="/entry/610844#0013">610844.0013</a>). Most of the mutations resulted in a truncated protein, and all but 1 of the 12 different mutations identified had previously been reported in patients with spastic paraplegia-11 (<a href="/entry/604360">604360</a>). However, the patients reported by <a href="#3" class="mim-tip-reference" title="Orlacchio, A., Babalini, C., Borreca, A., Patrono, C., Massa, R., Basaran, S., Munhoz, R. P., Rogaeva, E. A., St George-Hyslop, P. H., Bernardi, G., Kawarai, T. &lt;strong&gt;SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.&lt;/strong&gt; Brain 133: 591-598, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20110243/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20110243&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awp325&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20110243">Orlacchio et al. (2010)</a> had a slightly different phenotype more consistent with ALS than SPG. Functional studies of the variants and studies of patient cells were not performed. The 10 families with ALS5 were ascertained from a cohort of 25 families who underwent SPG11 gene sequencing, thus accounting for 40% of families. <a href="#3" class="mim-tip-reference" title="Orlacchio, A., Babalini, C., Borreca, A., Patrono, C., Massa, R., Basaran, S., Munhoz, R. P., Rogaeva, E. A., St George-Hyslop, P. H., Bernardi, G., Kawarai, T. &lt;strong&gt;SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.&lt;/strong&gt; Brain 133: 591-598, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20110243/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20110243&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awp325&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20110243">Orlacchio et al. (2010)</a> did not speculate on why the same mutations led to a slightly different phenotype more consistent with ALS than SPG, but noted that the common finding of axonal involvement in both ALS and SPG suggested a common pathologic pathway in both disorders. The findings expanded the phenotype associated with SPG11 gene mutations to included autosomal recessive juvenile ALS with long-term survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20110243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>History</strong>
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<p><a href="#1" class="mim-tip-reference" title="Cox, P. R., Siddique, T., Zoghbi, H. &lt;strong&gt;Genomic organization of tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and tropomodulin 4.&lt;/strong&gt; BMC Genomics 2: 7, 2001. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11716785/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11716785&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1186/1471-2164-2-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11716785">Cox et al. (2001)</a> sequenced the TMOD2 gene (<a href="/entry/602928">602928</a>), which is located on chromosome 15q21, in 2 patients and controls from a family with ALS5 and did not detect any mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11716785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Cox2001" class="mim-anchor"></a>
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Cox, P. R., Siddique, T., Zoghbi, H.
<strong>Genomic organization of tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and tropomodulin 4.</strong>
BMC Genomics 2: 7, 2001. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11716785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11716785</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11716785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1186/1471-2164-2-7" target="_blank">Full Text</a>]
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<a id="Hentati1998" class="mim-anchor"></a>
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Hentati, A., Ouahchi, K., Pericak-Vance, M. A., Nijhawan, D., Ahmad, A., Yang, Y., Rimmler, J., Hung, W.-Y., Schlotter, B., Ahmed, A., Ben Hamida, M., Hentati, F., Siddique, T.
<strong>Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers.</strong>
Neurogenetics 2: 55-60, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9933301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9933301</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9933301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s100480050052" target="_blank">Full Text</a>]
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<a id="Orlacchio2010" class="mim-anchor"></a>
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Orlacchio, A., Babalini, C., Borreca, A., Patrono, C., Massa, R., Basaran, S., Munhoz, R. P., Rogaeva, E. A., St George-Hyslop, P. H., Bernardi, G., Kawarai, T.
<strong>SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.</strong>
Brain 133: 591-598, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20110243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20110243</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20110243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/brain/awp325" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 9/29/2015
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick - updated : 11/13/1997
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Creation Date:
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Victor A. McKusick : 11/4/1997
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carol : 04/12/2023
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carol : 12/01/2015<br>ckniffin : 12/1/2015<br>alopez : 10/14/2015<br>carol : 10/6/2015<br>alopez : 10/2/2015<br>ckniffin : 9/29/2015<br>joanna : 8/17/2015<br>carol : 12/14/2011<br>carol : 12/14/2011<br>alopez : 3/15/2010<br>tkritzer : 4/30/2004<br>joanna : 3/18/2004<br>alopez : 3/14/1999<br>alopez : 3/12/1999<br>carol : 3/7/1999<br>mark : 12/3/1997<br>jenny : 12/2/1997<br>terry : 11/13/1997<br>mark : 11/4/1997<br>mark : 11/4/1997
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<strong>#</strong> 602099
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<span class="mim-font">
AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5
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<strong>ORPHA:</strong> 300605; &nbsp;
<strong>DO:</strong> 0060197; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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15q21.1
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Amyotrophic lateral sclerosis 5, juvenile
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602099
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Autosomal recessive
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3
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SPG11
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610844
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is caused by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11; 610844) on chromosome 15q21.</p><p>Biallelic mutation in the SPG11 gene can also cause autosomal recessive hereditary spastic paraplegia-11 (SPG11; 604360) and autosomal recessive axonal Charcot-Marie-Tooth type 2X (CMT2X; 616668), different neurodegenerative disorders with overlapping features.</p>
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<strong>Description</strong>
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<p>Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010). </p><p>For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (105400).</p>
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<strong>Clinical Features</strong>
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<p>Hentati et al. (1998) reported 22 patients with ALS from 7 families; 4 were Tunisian (9926, 9927, 9929, and 9590), 2 were Pakistani (9658 and 9729), and 1 was German (9646). The patients from Tunisia and Pakistan presented at ages ranging from 8 to 18 years with difficulty in walking and with weakness. The disease was slowly progressive. In the German family, symptoms manifested before the age of 10 years in 1 patient and at 18 years in his brother and the disease was rapidly progressive. </p><p>Orlacchio et al. (2010) reported 23 patients from 10 consanguineous families with ALS5. The families had various ethnic backgrounds, including Italian, Turkish, Brazilian, Japanese, and Canadian. Affected subjects had a slowly progressive motor neuronopathy with upper and lower motoneuron dysfunction. The mean age at onset was 16.3 years (range 7 to 23), and the mean disease duration was 34.3 years. Patients had distal muscle weakness and atrophy associated with pyramidal signs, including hyperreflexia, extensor plantar responses, and spastic gait. Some patients had mild upper and lower motoneuron symptoms, whereas others were more severely affected and wheelchair-bound with no functional hand use by the fifth or sixth decades. Most patients had pontobulbar signs, including jaw spasticity, increased facial reflexes, poor palatal elevation, weak masseter and/or pterygoids, and tongue weakness. Other features included Hoffman sign and muscle atrophy with fasciculations. EMG showed chronic neurogenic changes with fibrillation and fasciculation, and motor conduction studies showed reduced amplitudes of compound motor action potentials; sensory studies were normal. None of the patients had cognitive impairment or thin corpus callosum. Postmortem examination of 1 patient showed typical pathologic features of ALS, including small pyramids, loss of anterior horn large motor neurons and loss of large myelinated fibers in the anterolateral columns. Remaining neurons showed central chromatolysis, pigmentary degeneration, and round hyaline inclusions; Bunina bodies were not observed. </p>
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<strong>Inheritance</strong>
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<p>The pedigree pattern in 7 families with ALS reported by Hentati et al. (1998) was consistent with autosomal recessive inheritance. </p>
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<strong>Mapping</strong>
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<p>In 4 of 7 families with ALS that did not show linkage to previously identified ALS loci on chromosomes 2q33, 21q21 and 5q13, Hentati et al. (1998) found linkage to markers in the 15q15.1-q21.1 region. Negative lod scores were encountered in 3 of the families, 1 from Tunisia and 2 from Pakistan. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 10 unrelated families with a protracted course of autosomal recessive juvenile-onset ALS5, Orlacchio et al. (2010) identified homozygous or compound heterozygous mutations in the SPG11 gene (see, e.g., 610844.0003-610844.0004, 610844.0010-610844.0013). Most of the mutations resulted in a truncated protein, and all but 1 of the 12 different mutations identified had previously been reported in patients with spastic paraplegia-11 (604360). However, the patients reported by Orlacchio et al. (2010) had a slightly different phenotype more consistent with ALS than SPG. Functional studies of the variants and studies of patient cells were not performed. The 10 families with ALS5 were ascertained from a cohort of 25 families who underwent SPG11 gene sequencing, thus accounting for 40% of families. Orlacchio et al. (2010) did not speculate on why the same mutations led to a slightly different phenotype more consistent with ALS than SPG, but noted that the common finding of axonal involvement in both ALS and SPG suggested a common pathologic pathway in both disorders. The findings expanded the phenotype associated with SPG11 gene mutations to included autosomal recessive juvenile ALS with long-term survival. </p>
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<strong>History</strong>
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<p>Cox et al. (2001) sequenced the TMOD2 gene (602928), which is located on chromosome 15q21, in 2 patients and controls from a family with ALS5 and did not detect any mutations. </p>
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<strong>REFERENCES</strong>
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<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Cox, P. R., Siddique, T., Zoghbi, H.
<strong>Genomic organization of tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and tropomodulin 4.</strong>
BMC Genomics 2: 7, 2001. Note: Electronic Article.
[PubMed: 11716785]
[Full Text: https://doi.org/10.1186/1471-2164-2-7]
</p>
</li>
<li>
<p class="mim-text-font">
Hentati, A., Ouahchi, K., Pericak-Vance, M. A., Nijhawan, D., Ahmad, A., Yang, Y., Rimmler, J., Hung, W.-Y., Schlotter, B., Ahmed, A., Ben Hamida, M., Hentati, F., Siddique, T.
<strong>Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers.</strong>
Neurogenetics 2: 55-60, 1998.
[PubMed: 9933301]
[Full Text: https://doi.org/10.1007/s100480050052]
</p>
</li>
<li>
<p class="mim-text-font">
Orlacchio, A., Babalini, C., Borreca, A., Patrono, C., Massa, R., Basaran, S., Munhoz, R. P., Rogaeva, E. A., St George-Hyslop, P. H., Bernardi, G., Kawarai, T.
<strong>SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.</strong>
Brain 133: 591-598, 2010.
[PubMed: 20110243]
[Full Text: https://doi.org/10.1093/brain/awp325]
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Contributors:
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<span class="mim-text-font">
Cassandra L. Kniffin - updated : 9/29/2015<br>Victor A. McKusick - updated : 11/13/1997
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<span class="mim-text-font">
Victor A. McKusick : 11/4/1997
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carol : 04/12/2023<br>carol : 12/01/2015<br>ckniffin : 12/1/2015<br>alopez : 10/14/2015<br>carol : 10/6/2015<br>alopez : 10/2/2015<br>ckniffin : 9/29/2015<br>joanna : 8/17/2015<br>carol : 12/14/2011<br>carol : 12/14/2011<br>alopez : 3/15/2010<br>tkritzer : 4/30/2004<br>joanna : 3/18/2004<br>alopez : 3/14/1999<br>alopez : 3/12/1999<br>carol : 3/7/1999<br>mark : 12/3/1997<br>jenny : 12/2/1997<br>terry : 11/13/1997<br>mark : 11/4/1997<br>mark : 11/4/1997
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