2581 lines
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Entry
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- #606353 - PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ
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- OMIM
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<p>
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<span class="h4">#606353</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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<li role="presentation">
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<a href="/clinicalSynopsis/606353"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<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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<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><a href="https://clinicaltrials.gov/search?cond=PRIMARY LATERAL SCLEROSIS, 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=19530&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1243/" 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://medlineplus.gov/genetics/condition/juvenile-primary-lateral-sclerosis" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606353[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=247604" 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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<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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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 717964007<br />
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<strong>ORPHA:</strong> 247604<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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606353
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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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PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ
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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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PLS, JUVENILE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/921?start=-3&limit=10&highlight=921">
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2q33.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Primary lateral sclerosis, 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/606353"> 606353 </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 class="btn-group ">
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<a href="/clinicalSynopsis/606353" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/606353" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/606353" 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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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<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 />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
|
|
|
</div>
|
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|
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|
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|
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<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">
|
|
|
|
- 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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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Saccadic smooth pursuit <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836479</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001152" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001152</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001152" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001152</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">
|
|
|
|
- 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>
|
|
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|
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|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
|
|
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|
|
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|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> 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> 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 upper and lower 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 /> -
|
|
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 /> -
|
|
Cortical atrophy with loss of pyramidal neurons in the motor cortex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853400&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853400</a>]</span><br /> -
|
|
Lateral corticospinal tracts show atrophy, pallor, and degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853401</a>]</span><br /> -
|
|
Absence of lower motor neuron involvement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853402&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853402</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">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
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|
|
|
|
|
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|
|
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|
|
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|
|
|
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|
|
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|
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|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in early childhood<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 /> -
|
|
Allelic disorder to juvenile amyotrophic lateral sclerosis 2 (ALS2, <a href="/entry/205100">205100</a>)<br /> -
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Allelic disorder to infantile-onset ascending spastic paralysis (IAHSP, <a href="/entry/607225">607225</a>)<br />
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- Caused by mutation in the alsin Rho guanine nucleotide exchange factor ALS2 gene (ALS2, <a href="/entry/606352#0002">606352.0002</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because of evidence that juvenile primary lateral sclerosis (PLSJ) is caused by homozygous mutation in the gene encoding alsin (ALS2; <a href="/entry/606352">606352</a>) on chromosome 2q33.</p><p>Juvenile amyotrophic lateral sclerosis-2 (<a href="/entry/205100">205100</a>) and infantile-onset ascending spastic paralysis (IAHSP; <a href="/entry/607225">607225</a>) are allelic disorders with overlapping phenotypes.</p><p>See also adult-onset PLS (<a href="/entry/611637">611637</a>), which occurs sporadically or shows autosomal dominant inheritance.</p>
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<p>Although primary lateral sclerosis is similar to amyotrophic lateral sclerosis (ALS; <a href="/entry/105400">105400</a>), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became clear and diagnostic criteria established (<a href="#6" class="mim-tip-reference" title="Pringle, C. E., Hudson, A. J., Munoz, D. G., Kiernan, J. A., Brown, W. F., Ebers, G. C. <strong>Primary lateral sclerosis: clinical features, neuropathology and diagnostic criteria.</strong> Brain 115: 495-520, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1606479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1606479</a>] [<a href="https://doi.org/10.1093/brain/115.2.495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1606479">Pringle et al., 1992</a>). PLS is characterized by degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts, whereas ALS is a more severe disorder characterized by degeneration of both the upper and lower motor neurons. A diagnosis of PLS is essentially one of exclusion (<a href="#8" class="mim-tip-reference" title="Sotaniemi, K. A., Myllyla, V. V. <strong>Primary lateral sclerosis: a debated entity.</strong> Acta Neurol. Scand. 71: 334-336, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4003039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4003039</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1985.tb03210.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4003039">Sotaniemi and Myllyla, 1985</a>; <a href="#11" class="mim-tip-reference" title="Younger, D. S., Chou, S., Hays, A. P., Lange, D. J., Emerson, R., Brin, M., Thompson, H., Jr., Rowland, L. P. <strong>Primary lateral sclerosis: a clinical diagnosis reemerges.</strong> Arch. Neurol. 45: 1304-1307, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3196189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3196189</a>] [<a href="https://doi.org/10.1001/archneur.1988.00520360022005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3196189">Younger et al., 1988</a>; <a href="#10" 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>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3196189+4003039+1606479+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>
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<p><a href="#9" class="mim-tip-reference" title="Stark, F. M., Moersch, F. P. <strong>Primary lateral sclerosis: a distinct clinical entity.</strong> J. Nerv. Ment. Dis. 102: 332-337, 1945."None>Stark and Moersch (1945)</a> defined primary lateral sclerosis as a disease of lateral columns of the spinal cord, the corticospinal tracts. In a review of 60 cases, including 17 familial cases, the authors concluded that it was a slowly progressive disorder restricted to involvement of the pyramidal tracts and clinically characterized primarily by spasticity, hyperreflexia, and extensor plantar responses.</p><p><a href="#4" class="mim-tip-reference" title="Lerman-Sagie, T., Filiano, J., Smith, D. W., Korson, M. <strong>Infantile onset of hereditary ascending spastic paralysis with bulbar involvement.</strong> J. Child. Neurol. 11: 54-57, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8745388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8745388</a>] [<a href="https://doi.org/10.1177/088307389601100114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8745388">Lerman-Sagie et al. (1996)</a> reported a consanguineous Kuwaiti family in which 3 sons developed progressive spastic paralysis of the lower extremities in infancy with subsequent involvement of the upper extremities and bulbar muscles. Cognition was spared. The authors noted the phenotypic overlap with hereditary spastic paraplegia, but concluded that the disorder in this family was consistent with primary lateral sclerosis. <a href="#7" class="mim-tip-reference" title="Shaw, P. J. <strong>Genetic inroads in familial ALS.</strong> Nature Genet. 29: 103-104, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586285</a>] [<a href="https://doi.org/10.1038/ng1001-103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11586285">Shaw (2001)</a> classified this family as having primary lateral sclerosis because of the lack of evidence of denervation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8745388+11586285" 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="#5" class="mim-tip-reference" title="Mintchev, N., Zamba-Papanicolaou, E., Kleopa, K. A., Christodoulou, K. <strong>A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.</strong> Neurology 72: 28-32, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19122027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19122027</a>] [<a href="https://doi.org/10.1212/01.wnl.0000338530.77394.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19122027">Mintchev et al. (2009)</a> reported a consanguineous Cypriot family in which 3 members had juvenile primary lateral sclerosis. Onset was at age 2 years in all patients, with leg spasticity, bulbar paresis, and prominent saccadic gaze paresis. One patient became wheelchair-bound at age 50 years, the second never achieved ambulation, and the third remained ambulatory at age 16. Lower motor neuron symptoms were not apparent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19122027" 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>PLS is usually a sporadic disorder of adult middle age. However, it has been described in children, and is then referred to as juvenile PLS, and in families in a pattern consistent with autosomal recessive inheritance (<a href="#1" class="mim-tip-reference" title="Gascon, G. G., Chavis, P., Yaghmour, A., Stigsby, B., Shums, A., Ozand, P., Siddique, T. <strong>Familial childhood primary lateral sclerosis with associated gaze paresis.</strong> Neuropediatrics 26: 313-319, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8719747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8719747</a>] [<a href="https://doi.org/10.1055/s-2007-979781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8719747">Gascon et al., 1995</a>; <a href="#4" class="mim-tip-reference" title="Lerman-Sagie, T., Filiano, J., Smith, D. W., Korson, M. <strong>Infantile onset of hereditary ascending spastic paralysis with bulbar involvement.</strong> J. Child. Neurol. 11: 54-57, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8745388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8745388</a>] [<a href="https://doi.org/10.1177/088307389601100114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8745388">Lerman-Sagie et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8745388+8719747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of the Kuwaiti family reported by <a href="#4" class="mim-tip-reference" title="Lerman-Sagie, T., Filiano, J., Smith, D. W., Korson, M. <strong>Infantile onset of hereditary ascending spastic paralysis with bulbar involvement.</strong> J. Child. Neurol. 11: 54-57, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8745388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8745388</a>] [<a href="https://doi.org/10.1177/088307389601100114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8745388">Lerman-Sagie et al. (1996)</a>, <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#0004">606352.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8745388+11586298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="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> identified a homozygous deletion in the ALS2 gene (<a href="#0002">606353.0002</a>) in 3 affected members of a consanguineous Saudi Arabian family with PLSJ. <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'})"><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 affected members of a consanguineous Cypriot family with juvenile-onset PLS, <a href="#5" class="mim-tip-reference" title="Mintchev, N., Zamba-Papanicolaou, E., Kleopa, K. A., Christodoulou, K. <strong>A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.</strong> Neurology 72: 28-32, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19122027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19122027</a>] [<a href="https://doi.org/10.1212/01.wnl.0000338530.77394.60" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19122027">Mintchev et al. (2009)</a> identified a homozygous mutation in the ALS2 gene (<a href="#0013">606353.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19122027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Grunnet1989" class="mim-tip-reference" title="Grunnet, M. L., Leicher, C., Zimmerman, A., Zalneraitis, E., Barwick, M. <strong>Primary lateral sclerosis in a child.</strong> Neurology 39: 1530-1532, 1989.">Grunnet et al. (1989)</a>
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Gascon, G. G., Chavis, P., Yaghmour, A., Stigsby, B., Shums, A., Ozand, P., Siddique, T.
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Neuropediatrics 26: 313-319, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8719747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8719747</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8719747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1055/s-2007-979781" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Grunnet1989" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Grunnet, M. L., Leicher, C., Zimmerman, A., Zalneraitis, E., Barwick, M.
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|
<strong>Primary lateral sclerosis in a child.</strong>
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Neurology 39: 1530-1532, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2812336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2812336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2812336" 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.39.11.1530" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Hadano2001" class="mim-anchor"></a>
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<div class="">
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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: <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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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Lerman-Sagie1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lerman-Sagie, T., Filiano, J., Smith, D. W., Korson, M.
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<strong>Infantile onset of hereditary ascending spastic paralysis with bulbar involvement.</strong>
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J. Child. Neurol. 11: 54-57, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8745388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8745388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8745388" 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/10.1177/088307389601100114" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Mintchev2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mintchev, N., Zamba-Papanicolaou, E., Kleopa, K. A., Christodoulou, K.
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<strong>A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.</strong>
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Neurology 72: 28-32, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19122027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19122027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19122027" 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/10.1212/01.wnl.0000338530.77394.60" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Pringle1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Pringle, C. E., Hudson, A. J., Munoz, D. G., Kiernan, J. A., Brown, W. F., Ebers, G. C.
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<strong>Primary lateral sclerosis: clinical features, neuropathology and diagnostic criteria.</strong>
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Brain 115: 495-520, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1606479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1606479</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1606479" 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/115.2.495" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Shaw2001" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Shaw, P. J.
|
|
<strong>Genetic inroads in familial ALS.</strong>
|
|
Nature Genet. 29: 103-104, 2001.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11586285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11586285</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11586285" 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/ng1001-103" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Sotaniemi1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sotaniemi, K. A., Myllyla, V. V.
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|
<strong>Primary lateral sclerosis: a debated entity.</strong>
|
|
Acta Neurol. Scand. 71: 334-336, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4003039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4003039</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4003039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1600-0404.1985.tb03210.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Stark1945" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Stark, F. M., Moersch, F. P.
|
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<strong>Primary lateral sclerosis: a distinct clinical entity.</strong>
|
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J. Nerv. Ment. Dis. 102: 332-337, 1945.
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Yang2001" class="mim-anchor"></a>
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<div class="">
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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: <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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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Younger1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Younger, D. S., Chou, S., Hays, A. P., Lange, D. J., Emerson, R., Brin, M., Thompson, H., Jr., Rowland, L. P.
|
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<strong>Primary lateral sclerosis: a clinical diagnosis reemerges.</strong>
|
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Arch. Neurol. 45: 1304-1307, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3196189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3196189</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3196189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1988.00520360022005" target="_blank">Full Text</a>]
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</p>
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/16/2009
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/29/2007<br>Cassandra L. Kniffin - reorganized : 3/10/2006<br>Cassandra L. Kniffin - updated : 3/7/2006
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/3/2001
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</span>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 06/21/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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wwang : 3/26/2009<br>ckniffin : 3/16/2009<br>wwang : 11/29/2007<br>ckniffin : 11/29/2007<br>ckniffin : 11/29/2007<br>carol : 3/10/2006<br>ckniffin : 3/7/2006<br>ckniffin : 3/12/2002<br>alopez : 11/5/2001<br>alopez : 10/3/2001
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</span>
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<div class="container visible-print-block">
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<div class="row">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 606353
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ
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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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<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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PLS, JUVENILE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 717964007;
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<strong>ORPHA:</strong> 247604;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
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>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
2q33.1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Primary lateral sclerosis, juvenile
|
|
</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
606353
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
ALS2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
606352
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
|
</table>
|
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</div>
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</div>
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<p>A number sign (#) is used with this entry because of evidence that juvenile primary lateral sclerosis (PLSJ) is caused by homozygous mutation in the gene encoding alsin (ALS2; 606352) on chromosome 2q33.</p><p>Juvenile amyotrophic lateral sclerosis-2 (205100) and infantile-onset ascending spastic paralysis (IAHSP; 607225) are allelic disorders with overlapping phenotypes.</p><p>See also adult-onset PLS (611637), which occurs sporadically or shows autosomal dominant inheritance.</p>
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<p>Although primary lateral sclerosis is similar to amyotrophic lateral sclerosis (ALS; 105400), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became clear and diagnostic criteria established (Pringle et al., 1992). PLS is characterized by degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts, whereas ALS is a more severe disorder characterized by degeneration of both the upper and lower motor neurons. A diagnosis of PLS is essentially one of exclusion (Sotaniemi and Myllyla, 1985; Younger et al., 1988; Yang et al., 2001). </p>
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<p>Stark and Moersch (1945) defined primary lateral sclerosis as a disease of lateral columns of the spinal cord, the corticospinal tracts. In a review of 60 cases, including 17 familial cases, the authors concluded that it was a slowly progressive disorder restricted to involvement of the pyramidal tracts and clinically characterized primarily by spasticity, hyperreflexia, and extensor plantar responses.</p><p>Lerman-Sagie et al. (1996) reported a consanguineous Kuwaiti family in which 3 sons developed progressive spastic paralysis of the lower extremities in infancy with subsequent involvement of the upper extremities and bulbar muscles. Cognition was spared. The authors noted the phenotypic overlap with hereditary spastic paraplegia, but concluded that the disorder in this family was consistent with primary lateral sclerosis. Shaw (2001) classified this family as having primary lateral sclerosis because of the lack of evidence of denervation. </p><p>Mintchev et al. (2009) reported a consanguineous Cypriot family in which 3 members had juvenile primary lateral sclerosis. Onset was at age 2 years in all patients, with leg spasticity, bulbar paresis, and prominent saccadic gaze paresis. One patient became wheelchair-bound at age 50 years, the second never achieved ambulation, and the third remained ambulatory at age 16. Lower motor neuron symptoms were not apparent. </p>
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<p>PLS is usually a sporadic disorder of adult middle age. However, it has been described in children, and is then referred to as juvenile PLS, and in families in a pattern consistent with autosomal recessive inheritance (Gascon et al., 1995; Lerman-Sagie et al., 1996). </p>
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<p>In affected members of the Kuwaiti family reported by Lerman-Sagie et al. (1996), Hadano et al. (2001) identified a homozygous mutation in the ALS2 gene (606352.0004). </p><p>Yang et al. (2001) identified a homozygous deletion in the ALS2 gene (606353.0002) in 3 affected members of a consanguineous Saudi Arabian family with PLSJ. </p><p>In affected members of a consanguineous Cypriot family with juvenile-onset PLS, Mintchev et al. (2009) identified a homozygous mutation in the ALS2 gene (606353.0013). </p>
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<strong>See Also:</strong>
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<span class="mim-text-font">
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Grunnet et al. (1989)
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<strong>REFERENCES</strong>
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Gascon, G. G., Chavis, P., Yaghmour, A., Stigsby, B., Shums, A., Ozand, P., Siddique, T.
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<strong>Familial childhood primary lateral sclerosis with associated gaze paresis.</strong>
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Neuropediatrics 26: 313-319, 1995.
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[PubMed: 8719747]
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[Full Text: https://doi.org/10.1055/s-2007-979781]
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Grunnet, M. L., Leicher, C., Zimmerman, A., Zalneraitis, E., Barwick, M.
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<strong>Primary lateral sclerosis in a child.</strong>
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Neurology 39: 1530-1532, 1989.
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[PubMed: 2812336]
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[Full Text: https://doi.org/10.1212/wnl.39.11.1530]
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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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Lerman-Sagie, T., Filiano, J., Smith, D. W., Korson, M.
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<strong>Infantile onset of hereditary ascending spastic paralysis with bulbar involvement.</strong>
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J. Child. Neurol. 11: 54-57, 1996.
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[PubMed: 8745388]
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[Full Text: https://doi.org/10.1177/088307389601100114]
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Mintchev, N., Zamba-Papanicolaou, E., Kleopa, K. A., Christodoulou, K.
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<strong>A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.</strong>
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Neurology 72: 28-32, 2009.
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[PubMed: 19122027]
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[Full Text: https://doi.org/10.1212/01.wnl.0000338530.77394.60]
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Pringle, C. E., Hudson, A. J., Munoz, D. G., Kiernan, J. A., Brown, W. F., Ebers, G. C.
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<strong>Primary lateral sclerosis: clinical features, neuropathology and diagnostic criteria.</strong>
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Brain 115: 495-520, 1992.
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[PubMed: 1606479]
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[Full Text: https://doi.org/10.1093/brain/115.2.495]
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Shaw, P. J.
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<strong>Genetic inroads in familial ALS.</strong>
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Nature Genet. 29: 103-104, 2001.
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[PubMed: 11586285]
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[Full Text: https://doi.org/10.1038/ng1001-103]
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Sotaniemi, K. A., Myllyla, V. V.
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<strong>Primary lateral sclerosis: a debated entity.</strong>
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Acta Neurol. Scand. 71: 334-336, 1985.
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[PubMed: 4003039]
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[Full Text: https://doi.org/10.1111/j.1600-0404.1985.tb03210.x]
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Stark, F. M., Moersch, F. P.
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<strong>Primary lateral sclerosis: a distinct clinical entity.</strong>
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J. Nerv. Ment. Dis. 102: 332-337, 1945.
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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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Younger, D. S., Chou, S., Hays, A. P., Lange, D. J., Emerson, R., Brin, M., Thompson, H., Jr., Rowland, L. P.
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<strong>Primary lateral sclerosis: a clinical diagnosis reemerges.</strong>
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Arch. Neurol. 45: 1304-1307, 1988.
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[PubMed: 3196189]
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[Full Text: https://doi.org/10.1001/archneur.1988.00520360022005]
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Cassandra L. Kniffin - updated : 3/16/2009<br>Cassandra L. Kniffin - updated : 11/29/2007<br>Cassandra L. Kniffin - reorganized : 3/10/2006<br>Cassandra L. Kniffin - updated : 3/7/2006
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carol : 06/21/2016<br>wwang : 3/26/2009<br>ckniffin : 3/16/2009<br>wwang : 11/29/2007<br>ckniffin : 11/29/2007<br>ckniffin : 11/29/2007<br>carol : 3/10/2006<br>ckniffin : 3/7/2006<br>ckniffin : 3/12/2002<br>alopez : 11/5/2001<br>alopez : 10/3/2001
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