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Entry
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- #182601 - SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
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- OMIM
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<p>
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<span class="h4">#182601</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/182601"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS303350"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<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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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT" 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=14696&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/NBK1160/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/6695" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-4" 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=182601[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=100985" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110792" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/182601" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001247/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110792" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:182601" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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<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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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 723820001<br />
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<strong>ORPHA:</strong> 100985<br />
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<strong>DO:</strong> 0110792<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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182601
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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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SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
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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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FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 2; FSP2
|
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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>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<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/2/170?start=-3&limit=10&highlight=170">
|
|
2p22.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Spastic paraplegia 4, autosomal dominant
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182601"> 182601 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
SPAST
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604277"> 604277 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/182601" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS303350" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/182601" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/182601" 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nystagmus (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Urinary urgency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75088002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75088002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R39.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R39.15</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/788.63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.63</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085606</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000012" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000012</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000012" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000012</a>]</span><br /> -
|
|
Urinary incontinence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165232002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165232002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R32</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/788.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.30</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/788.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042024&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042024</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000020</a>]</span><br /> -
|
|
Sphincter disturbances <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843663&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843663</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002839</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002839" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002839</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lower back pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/279039007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">279039007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M54.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M54.50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M54.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M54.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/724.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">724.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024031&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024031</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003419</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">
|
|
|
|
- Lower limb spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/394679006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">394679006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1271100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1271100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002061" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002061</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002061" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002061</a>]</span><br /> -
|
|
Lower limb weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836296</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007340</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007340</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 /> -
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Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
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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 /> -
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Pyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14648003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14648003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span><br /> -
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Degeneration of the lateral corticospinal tracts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846566&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846566</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002314" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002314</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002314" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002314</a>]</span><br /> -
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Cognitive decline <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a>, <a href="https://bioportal.bioontology.org/search?q=C0234985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001268</a>]</span><br /> -
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Memory impairment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55533009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55533009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386807006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386807006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542476&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542476</a>, <a href="https://bioportal.bioontology.org/search?q=C0233794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233794</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002354" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002354</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002354" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002354</a>]</span><br /> -
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Deficits in language expression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866856&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866856</a>]</span><br /> -
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Deficits in abstraction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866857</a>]</span><br /> -
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Mental retardation (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
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Dementia (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
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Arachnoid cysts of the cerebellopontine angle (reported in 1 family) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4022884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4022884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012487</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Peripheral Nervous System </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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- Decreased vibratory sense in the lower limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849134</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002166</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002166</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Behavioral Psychiatric Manifestations </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Agitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24199005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24199005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085631&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085631</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000713</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000713</a>]</span><br /> -
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Aggression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61372001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61372001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001807</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006919</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span><br /> -
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Apathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20602000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20602000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0436596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0436596</a>, <a href="https://bioportal.bioontology.org/search?q=C0085632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000741</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000741</a>]</span><br /> -
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Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br /> -
|
|
Disinhibition <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247977003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247977003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66347000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66347000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40662008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40662008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F63.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/312.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">312.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021122&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021122</a>, <a href="https://bioportal.bioontology.org/search?q=C0234410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234410</a>, <a href="https://bioportal.bioontology.org/search?q=C0424296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424296</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:5200029" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:5200029</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000734</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Variable age of onset (infancy to 63 years)<br /> -
|
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Insidious onset <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367326009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367326009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1298634&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1298634</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003587" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003587</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003587" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003587</a>]</span><br /> -
|
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Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
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Highly variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
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Genetic anticipation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003743</a>]</span><br /> -
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Most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of SPG cases)<br /> -
|
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Genetic heterogeneity, see SPG3A (<a href="/entry/182600">182600</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </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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|
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- Caused by mutation in the spastin gene (SPG4, <a href="/entry/604277#0001">604277.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Spastic paraplegia
|
|
- <a href="/phenotypicSeries/PS303350">PS303350</a>
|
|
- 86 Entries
|
|
</h5>
|
|
</div>
|
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</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
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</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
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</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>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/208?start=-3&limit=10&highlight=208"> 1p36.13 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617225"> Spastic paraplegia 78, autosomal recessive </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/617225"> 617225 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610513"> ATP13A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610513"> 610513 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/553?start=-3&limit=10&highlight=553"> 1p34.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619027"> Spastic paraplegia 83, autosomal recessive </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/619027"> 619027 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618994"> HPDL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618994"> 618994 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/709?start=-3&limit=10&highlight=709"> 1p31.1-p21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609727"> Spastic paraplegia 29, autosomal dominant </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/609727"> 609727 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609727"> SPG29 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609727"> 609727 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/882?start=-3&limit=10&highlight=882"> 1p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615686"> ?Spastic paraplegia 63, autosomal recessive </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/615686"> 615686 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102771"> AMPD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102771"> 102771 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/935?start=-3&limit=10&highlight=935"> 1p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614066"> Spastic paraplegia 47, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614066"> 614066 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607245"> AP4B1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607245"> 607245 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1617?start=-3&limit=10&highlight=1617"> 1q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/270750"> Spastic paraplegia 23, autosomal recessive </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/270750"> 270750 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612666"> DSTYK </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612666"> 612666 </a>
|
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</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1773?start=-3&limit=10&highlight=1773"> 1q42.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613206"> ?Spastic paraplegia 44, autosomal recessive </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/613206"> 613206 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608803"> GJC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608803"> 608803 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1774?start=-3&limit=10&highlight=1774"> 1q42.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616451"> ?Spastic paraplegia 74, autosomal recessive </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/616451"> 616451 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615316"> IBA57 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615316"> 615316 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/106?start=-3&limit=10&highlight=106"> 2p23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618768"> Spastic paraplegia 81, autosomal recessive </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/618768"> 618768 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607915"> SELENOI </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607915"> 607915 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/170?start=-3&limit=10&highlight=170"> 2p22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182601"> Spastic paraplegia 4, autosomal dominant </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/182601"> 182601 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604277"> SPAST </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604277"> 604277 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/325?start=-3&limit=10&highlight=325"> 2p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620938"> Spastic paraplegia 93, autosomal recessive </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/620938"> 620938 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608100"> NFU1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608100"> 608100 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/441?start=-3&limit=10&highlight=441"> 2p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610250"> Spastic paraplegia 31, autosomal dominant </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/610250"> 610250 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609139"> REEP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609139"> 609139 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/891?start=-3&limit=10&highlight=891"> 2q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605280"> Spastic paraplegia 13, autosomal dominant </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/605280"> 605280 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118190"> HSPD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118190"> 118190 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1177?start=-3&limit=10&highlight=1177"> 2q37.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610357"> Spastic paraplegia 30, autosomal dominant </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/610357"> 610357 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601255"> KIF1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601255"> 601255 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1177?start=-3&limit=10&highlight=1177"> 2q37.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620607"> Spastic paraplegia 30, autosomal recessive </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/620607"> 620607 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601255"> KIF1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601255"> 601255 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/505?start=-3&limit=10&highlight=505"> 3q12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615658"> ?Spastic paraplegia 57, autosomal recessive </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/615658"> 615658 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602498"> TFG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602498"> 602498 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/803?start=-3&limit=10&highlight=803"> 3q25.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612539"> Spastic paraplegia 42, autosomal dominant </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/612539"> 612539 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603690"> SLC33A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603690"> 603690 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/894?start=-3&limit=10&highlight=894"> 3q27-q28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605229"> Spastic paraplegia 14, autosomal recessive </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605229"> 605229 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605229"> SPG14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605229"> 605229 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/8?start=-3&limit=10&highlight=8"> 4p16-p15 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612335"> Spastic paraplegia 38, autosomal dominant </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/612335"> 612335 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612335"> SPG38 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612335"> 612335 </a>
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</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/174?start=-3&limit=10&highlight=174"> 4p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620221"> Spastic paraplegia 79A, autosomal dominant </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/620221"> 620221 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191342"> UCHL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191342"> 191342 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/174?start=-3&limit=10&highlight=174"> 4p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615491"> Spastic paraplegia 79B, autosomal recessive </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/615491"> 615491 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191342"> UCHL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191342"> 191342 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/471?start=-3&limit=10&highlight=471"> 4q25 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615030"> Spastic paraplegia 56, autosomal recessive </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/615030"> 615030 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610670"> CYP2U1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610670"> 610670 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/509?start=-3&limit=10&highlight=509"> 5q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615625"> Spastic paraplegia 72A, autosomal dominant </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/615625"> 615625 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609347"> REEP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609347"> 609347 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/509?start=-3&limit=10&highlight=509"> 5q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620606"> ?Spastic paraplegia 72B, autosomal recessive </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/620606"> 620606 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609347"> REEP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609347"> 609347 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/33?start=-3&limit=10&highlight=33"> 6p25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617046"> Spastic paraplegia 77, autosomal recessive </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/617046"> 617046 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611592"> FARS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611592"> 611592 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/323?start=-3&limit=10&highlight=323"> 6p21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619735"> Spastic paraplegia 86, autosomal recessive </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/619735"> 619735 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142620"> ABHD16A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142620"> 142620 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/851?start=-3&limit=10&highlight=851"> 6q23-q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608220"> Spastic paraplegia 25, autosomal recessive </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608220"> 608220 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608220"> SPG25 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608220"> 608220 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/37?start=-3&limit=10&highlight=37"> 7p22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613647"> Spastic paraplegia 48, autosomal recessive </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/613647"> 613647 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613653"> AP5Z1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613653"> 613653 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/484?start=-3&limit=10&highlight=484"> 7q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612936"> Spastic paraplegia 50, autosomal recessive </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/612936"> 612936 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602296"> AP4M1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602296"> 602296 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/76?start=-3&limit=10&highlight=76"> 8p22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614898"> Spastic paraplegia 53, autosomal recessive </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/614898"> 614898 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609927"> VPS37A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609927"> 609927 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/154?start=-3&limit=10&highlight=154"> 8p21.1-q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611945"> Spastic paraplegia 37, autosomal dominant </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>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/611945"> 611945 </a>
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611945"> SPG37 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611945"> 611945 </a>
|
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</span>
|
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/196?start=-3&limit=10&highlight=196"> 8p11.23 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611225"> Spastic paraplegia 18B, autosomal recessive </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/611225"> 611225 </a>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611605"> ERLIN2 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611605"> 611605 </a>
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</span>
|
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/196?start=-3&limit=10&highlight=196"> 8p11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620512"> Spastic paraplegia 18A, autosomal dominant </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/620512"> 620512 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611605"> ERLIN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611605"> 611605 </a>
|
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</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/207?start=-3&limit=10&highlight=207"> 8p11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615033"> Spastic paraplegia 54, autosomal recessive </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/615033"> 615033 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615003"> DDHD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615003"> 615003 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/240?start=-3&limit=10&highlight=240"> 8p11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619686"> Spastic paraplegia 85, autosomal recessive </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/619686"> 619686 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614649"> RNF170 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614649"> 614649 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/303?start=-3&limit=10&highlight=303"> 8q12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/270800"> Spastic paraplegia 5A, autosomal recessive </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/270800"> 270800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603711"> CYP7B1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603711"> 603711 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/538?start=-3&limit=10&highlight=538"> 8q24.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603563"> Spastic paraplegia 8, autosomal dominant </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/603563"> 603563 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610657"> WASHC5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610657"> 610657 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/175?start=-3&limit=10&highlight=175"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614409"> Spastic paraplegia 46, autosomal recessive </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/614409"> 614409 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609471"> GBA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609471"> 609471 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/210?start=-3&limit=10&highlight=210"> 9q </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607152"> Spastic paraplegia 19, autosomal dominant </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/607152"> 607152 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607152"> SPG19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607152"> 607152 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/548?start=-3&limit=10&highlight=548"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620538"> Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia </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/620538"> 620538 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182810"> SPTAN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182810"> 182810 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/250?start=-3&limit=10&highlight=250"> 10q22.1-q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609041"> Spastic paraplegia 27, autosomal recessive </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609041"> 609041 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609041"> SPG27 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609041"> 609041 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/427?start=-3&limit=10&highlight=427"> 10q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616586"> Spastic paraplegia 9B, autosomal recessive </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/616586"> 616586 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138250"> ALDH18A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138250"> 138250 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/427?start=-3&limit=10&highlight=427"> 10q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601162"> Spastic paraplegia 9A, autosomal dominant </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/601162"> 601162 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138250"> ALDH18A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138250"> 138250 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/429?start=-3&limit=10&highlight=429"> 10q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615683"> Spastic paraplegia 64, autosomal recessive </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/615683"> 615683 </a>
|
|
</span>
|
|
</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601752"> ENTPD1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601752"> 601752 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
<a href="/geneMap/10/473?start=-3&limit=10&highlight=473"> 10q24.31 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615681"> Spastic paraplegia 62, autosomal recessive </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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|
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</span>
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</td>
|
|
<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
|
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<td>
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<span class="mim-font">
|
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<a href="/entry/615681"> 615681 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611604"> ERLIN1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611604"> 611604 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
<a href="/geneMap/10/530?start=-3&limit=10&highlight=530"> 10q24.32-q24.33 </a>
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|
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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/613162"> Spastic paraplegia 45, autosomal recessive </a>
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
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|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613162"> 613162 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/600417"> NT5C2 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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|
<a href="/entry/600417"> 600417 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
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|
<a href="/geneMap/11/255?start=-3&limit=10&highlight=255"> 11p14.1-p11.2 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613364"> ?Spastic paraplegia 41, autosomal dominant </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/613364"> 613364 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613364"> SPG41 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613364"> 613364 </a>
|
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</span>
|
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</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/489?start=-3&limit=10&highlight=489"> 11q12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/270685"> Silver spastic paraplegia syndrome </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/270685"> 270685 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606158"> BSCL2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606158"> 606158 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/584?start=-3&limit=10&highlight=584"> 11q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616907"> Spastic paraplegia 76, autosomal recessive </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/616907"> 616907 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114220"> CAPN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114220"> 114220 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/542?start=-3&limit=10&highlight=542"> 12q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620323"> Spastic paraplegia 70, autosomal recessive </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/620323"> 620323 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/156560"> MARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/156560"> 156560 </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/604187"> Spastic paraplegia 10, autosomal dominant </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/604187"> 604187 </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/12/551?start=-3&limit=10&highlight=551"> 12q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609195"> Spastic paraplegia 26, autosomal recessive </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/609195"> 609195 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601873"> B4GALNT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601873"> 601873 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/702?start=-3&limit=10&highlight=702"> 12q23-q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613096"> Spastic paraplegia 36, autosomal dominant </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/613096"> 613096 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613096"> SPG36 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613096"> 613096 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/768?start=-3&limit=10&highlight=768"> 12q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620911"> Spastic paraplegia 92, autosomal recessive </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/620911"> 620911 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620875"> FICD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620875"> 620875 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/922?start=-3&limit=10&highlight=922"> 12q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615035"> Spastic paraplegia 55, autosomal recessive </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/615035"> 615035 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613541"> MTRFR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613541"> 613541 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/97?start=-3&limit=10&highlight=97"> 13q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/275900"> Troyer syndrome </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/275900"> 275900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607111"> SPART </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607111"> 607111 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/118?start=-3&limit=10&highlight=118"> 13q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607584"> Spastic paraplegia 24, autosomal recessive </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607584"> 607584 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607584"> SPG24 </a>
|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
|
|
<a href="/entry/607584"> 607584 </a>
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</span>
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/175?start=-3&limit=10&highlight=175"> 13q14.2 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620106"> Spastic paraplegia 88, autosomal dominant </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/620106"> 620106 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601892"> KPNA3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601892"> 601892 </a>
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</span>
|
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</td>
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</tr>
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/111?start=-3&limit=10&highlight=111"> 14q12-q21 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611252"> Spastic paraplegia 32, autosomal recessive </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611252"> 611252 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611252"> SPG32 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611252"> 611252 </a>
|
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</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/151?start=-3&limit=10&highlight=151"> 14q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614067"> Spastic paraplegia 52, autosomal recessive </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/614067"> 614067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607243"> AP4S1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607243"> 607243 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/161?start=-3&limit=10&highlight=161"> 14q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620417"> ?Spastic paraplegia 90B, autosomal recessive </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/620417"> 620417 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613540"> SPTSSA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613540"> 613540 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/161?start=-3&limit=10&highlight=161"> 14q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620416"> Spastic paraplegia 90A, autosomal dominant </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/620416"> 620416 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613540"> SPTSSA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613540"> 613540 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/225?start=-3&limit=10&highlight=225"> 14q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182600"> Spastic paraplegia 3A, autosomal dominant </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/182600"> 182600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606439"> ATL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606439"> 606439 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/244?start=-3&limit=10&highlight=244"> 14q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609340"> Spastic paraplegia 28, autosomal recessive </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/609340"> 609340 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614603"> DDHD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614603"> 614603 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/333?start=-3&limit=10&highlight=333"> 14q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/270700"> Spastic paraplegia 15, autosomal recessive </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/270700"> 270700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612012"> ZFYVE26 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612012"> 612012 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/412?start=-3&limit=10&highlight=412"> 14q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619966"> Spastic paraplegia 87, autosomal recessive </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/619966"> 619966 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619953"> TMEM63C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619953"> 619953 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/15?start=-3&limit=10&highlight=15"> 15q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600363"> Spastic paraplegia 6, autosomal dominant </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/600363"> 600363 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608145"> NIPA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608145"> 608145 </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/604360"> Spastic paraplegia 11, autosomal recessive </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/604360"> 604360 </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/15/210?start=-3&limit=10&highlight=210"> 15q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613744"> Spastic paraplegia 51, autosomal recessive </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/613744"> 613744 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607244"> AP4E1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607244"> 607244 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/289?start=-3&limit=10&highlight=289"> 15q22.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/248900"> Mast syndrome </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/248900"> 248900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608181"> ACP33 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608181"> 608181 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/232?start=-3&limit=10&highlight=232"> 16p12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615685"> Spastic paraplegia 61, autosomal recessive </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/615685"> 615685 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607669"> ARL6IP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607669"> 607669 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/451?start=-3&limit=10&highlight=451"> 16q13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620379"> Spastic paraplegia 89, autosomal recessive </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/620379"> 620379 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603243"> AMFR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603243"> 603243 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/640?start=-3&limit=10&highlight=640"> 16q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612319"> Spastic paraplegia 35, autosomal recessive </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/612319"> 612319 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611026"> FA2H </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611026"> 611026 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/745?start=-3&limit=10&highlight=745"> 16q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607259"> Spastic paraplegia 7, autosomal recessive </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/607259"> 607259 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602783"> PGN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602783"> 602783 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/1047?start=-3&limit=10&highlight=1047"> 17q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618770"> Spastic paraplegia 82, autosomal recessive </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/618770"> 618770 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602679"> PCYT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602679"> 602679 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/207?start=-3&limit=10&highlight=207"> 19p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612020"> Spastic paraplegia 39, autosomal recessive </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/612020"> 612020 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603197"> PNPLA6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603197"> 603197 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/526?start=-3&limit=10&highlight=526"> 19q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615043"> ?Spastic paraplegia 43, autosomal recessive </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/615043"> 615043 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614297"> C19orf12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614297"> 614297 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/577?start=-3&limit=10&highlight=577"> 19q13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616680"> Spastic paraplegia 75, autosomal recessive </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/616680"> 616680 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159460"> MAG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159460"> 159460 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/824?start=-3&limit=10&highlight=824"> 19q13.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604805"> Spastic paraplegia 12, autosomal dominant </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/604805"> 604805 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603183"> RTN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603183"> 603183 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/961?start=-3&limit=10&highlight=961"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616282"> ?Spastic paraplegia 73, autosomal dominant </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/616282"> 616282 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608846"> CPT1C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608846"> 608846 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/66?start=-3&limit=10&highlight=66"> 22q11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619621"> Spastic paraplegia 84, autosomal recessive </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/619621"> 619621 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600286"> PI4KA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600286"> 600286 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/364?start=-3&limit=10&highlight=364"> Xq11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300266"> Spastic paraplegia 16, X-linked, complicated </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/300266"> 300266 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300266"> SPG16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300266"> 300266 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/532?start=-3&limit=10&highlight=532"> Xq22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/312920"> Spastic paraplegia 2, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/312920"> 312920 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300401"> PLP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300401"> 300401 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
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<p>A number sign (#) is used with this entry because autosomal dominant spastic paraplegia-4 (SPG4) is caused by heterozygous mutation in the SPAST gene (<a href="/entry/604277">604277</a>) on chromosome 2p22.</p>
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<p>The hereditary spastic paraplegias (SPG, HSP) are a group of clinically and genetically diverse inherited disorders characterized predominantly by progressive lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated') or with other neurologic abnormalities ('complicated').</p><p>Pure SPG4 is the most common form of autosomal dominant hereditary SPG, comprising up to 45% of cases (<a href="#38" class="mim-tip-reference" title="Svenson, I. K., Ashley-Koch, A. E., Gaskell, P. C., Riney, T. J., Cumming, W. J. K., Kingston, H. M., Hogan, E. L., Boustany, R.-M. N., Vance, J. M., Nance, M. A., Pericak-Vance, M. A., Marchuk, D. A. <strong>Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.</strong> Am. J. Hum. Genet. 68: 1077-1085, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11309678[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11309678">Svenson et al., 2001</a>; <a href="#6" class="mim-tip-reference" title="Crippa, F., Panzeri, C., Martinuzzi, A., Arnoldi, A., Redaelli, F., Tonelli, A., Baschirotto, C., Vazza, G., Mostacciuolo, M. L., Daga, A., Orso, G., Profice, P., and 13 others. <strong>Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.</strong> Arch. Neurol. 63: 750-755, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16682546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16682546</a>] [<a href="https://doi.org/10.1001/archneur.63.5.750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16682546">Crippa et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11309678+16682546" 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 general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (<a href="/entry/182600">182600</a>).</p>
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<p>In 5 of 7 French families and in 1 large Dutch pedigree with a form of autosomal dominant familial spastic paraplegia, <a href="#14" class="mim-tip-reference" title="Hazan, J., Fontaine, B., Bruyn, R. P. M., Lamy, C., van Deutekom, J. C. T., Rime, C. S., Durr, A., Melki, J., Lyon-Caen, O., Agid, Y., Munnich, A., Padberg, G. W., de Recondo, J., Frants, R. R., Brice, A., Weissenbach, J. <strong>Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.</strong> Hum. Molec. Genet. 3: 1569-1573, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833913</a>] [<a href="https://doi.org/10.1093/hmg/3.9.1569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7833913">Hazan et al. (1994)</a> found linkage to a locus, which they termed FSP2 (also known as SPG4), on chromosome 2p. This finding distinguished the disease from autosomal dominant spastic paraplegia-3 (<a href="/entry/182600">182600</a>), which had been mapped to chromosome 14. Age of onset in the 6 families showing linkage to 2p varied widely within families and the mean age at onset ranged from 20 to 39 years. Thus, age of onset may be a poor criterion for classifying autosomal dominant spastic paraplegia. Anticipation in the age of onset was observed in 2 of the kindreds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7833913" 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="Durr, A., Davoine, C.-S., Paternotte, C., von Fellenberg, J., Cogilinicean, S., Coutinho, P., Lamy, C., Bourgeois, S., Prud'homme, J. F., Penet, C., Burgunder, J. M., Hazan, J., Weissenbach, J., Brice, A., Fontaine, B. <strong>Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.</strong> Brain 119: 1487-1496, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8931574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8931574</a>] [<a href="https://doi.org/10.1093/brain/119.5.1487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8931574">Durr et al. (1996)</a> reported 12 families with autosomal dominant spastic paraplegia linked to the SPG4 locus on chromosome 2. Age of onset ranged from infancy to 63 years. The clinical expression of the disorder within a family included asymptomatic patients who were unaware of their condition, mildly affected individuals who had spastic gait but were able to walk independently, and severely affected patients who were wheelchair bound. <a href="#10" class="mim-tip-reference" title="Durr, A., Davoine, C.-S., Paternotte, C., von Fellenberg, J., Cogilinicean, S., Coutinho, P., Lamy, C., Bourgeois, S., Prud'homme, J. F., Penet, C., Burgunder, J. M., Hazan, J., Weissenbach, J., Brice, A., Fontaine, B. <strong>Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.</strong> Brain 119: 1487-1496, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8931574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8931574</a>] [<a href="https://doi.org/10.1093/brain/119.5.1487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8931574">Durr et al. (1996)</a> commented on the extensive intra- and interfamilial clinical variation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8931574" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Nielsen, J. E., Krabbe, K., Jennum, P., Koefoed, P., Jensen, L. N., Fenger, K., Eiberg, H., Hasholt, L., Werdelin, L., Sorensen, S. A. <strong>Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.</strong> J. Neurol. Neurosurg. Psychiat. 64: 61-66, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9436729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9436729</a>] [<a href="https://doi.org/10.1136/jnnp.64.1.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9436729">Nielsen et al. (1998)</a> evaluated 5 families with 2p-linked pure spastic paraplegia. In 2 families, nonprogressive 'congenital' spastic paraplegia was seen in some affected members, whereas adult-onset progressive spastic paraplegia was present in others. Low backache was reported as a late symptom by 47% of the 63 at-risk members in the 5 families. Brain and total spinal cord MRI disclosed no significant abnormalities. <a href="#29" class="mim-tip-reference" title="Nielsen, J. E., Krabbe, K., Jennum, P., Koefoed, P., Jensen, L. N., Fenger, K., Eiberg, H., Hasholt, L., Werdelin, L., Sorensen, S. A. <strong>Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.</strong> J. Neurol. Neurosurg. Psychiat. 64: 61-66, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9436729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9436729</a>] [<a href="https://doi.org/10.1136/jnnp.64.1.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9436729">Nielsen et al. (1998)</a> concluded that SPG4 is a phenotypically heterogeneous disorder, characterized by both interfamilial and intrafamilial variation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9436729" 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="#27" class="mim-tip-reference" title="Nance, M. A., Raabe, W. A., Midani, H., Kolodny, E. H., David, W. S., Megna, L., Pericak-Vance, M. A., Haines, J. L. <strong>Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21.</strong> Hum. Hered. 48: 169-178, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9618065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9618065</a>] [<a href="https://doi.org/10.1159/000022798" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9618065">Nance et al. (1998)</a> found striking variation in clinical features in 4 families with spastic paraplegia with linkage to chromosome 2 markers. Only mild neurologic signs were observed in some subjects. The clinical features of 1 family had previously been described by <a href="#3" class="mim-tip-reference" title="Boustany, R.-M., Fleischnick, E., Alper, C. A., Marazita, M. L., Spence, M. A., Martin, J. B., Kolodny, E. H. <strong>The autosomal dominant form of 'pure' familial spastic paraplegia: clinical findings and linkage analysis of a large pedigree.</strong> Neurology 37: 910-915, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3587641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3587641</a>] [<a href="https://doi.org/10.1212/wnl.37.6.910" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3587641">Boustany et al. (1987)</a>. Onset was generally in the third to fifth decades with an average onset age of 35 years (range, 5 to 61 years). All clearly affected patients had scissoring gait, and in all who were examined at least 2 of the following were found: extensor plantar responses, increased knee and ankle reflexes, increased tone, muscle spasms, or leg cramps. Urinary urgency or other symptoms compatible with a neurogenic bladder, leg weakness, and decreased vibration sense were present in some, but not all, patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9618065+3587641" 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>Byrne et al. (<a href="#5" class="mim-tip-reference" title="Byrne, P., Webb, S., Harbourne, G., MacSweeney, F., Hutchinson, M., Parfrey, N. A. <strong>Clinically different forms of hereditary spastic paraplegia map to the same region of chromosome 2. (Abstract)</strong> Medizinische Genetik 9: 4 only, 1997."None>1997</a>, <a href="#4" class="mim-tip-reference" title="Byrne, P. C., Webb, S., McSweeney, F., Burke, T., Hutchinson, M., Parfrey, N. A. <strong>Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance.</strong> Europ. J. Hum. Genet. 6: 275-282, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781032</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781032">1998</a>) presented a family with autosomal dominant hereditary spastic paraplegia and a specific form of cognitive impairment who showed linkage to the SPG4 locus on chromosome 2. The pattern of cognitive impairment in this family was characterized primarily by deficits in visual-spatial functions. Dysfunction manifested itself by difficulty in carrying out new tasks, forgetfulness, poor spatial perception, and impaired visual-motor coordination. By haplotype analysis the presence of the mutant gene was identified in an individual who, at the age of 57, had the same pattern of cognitive impairment but no spastic paraplegia. Furthermore, 6 individuals who presented with the disease haplotype had normal neurologic and neuropsychologic examinations. All 6 were below the maximal age of onset in the family, namely, 60 years. In this Irish family the cognitive impairment was considered to be a manifestation of the SPG4 gene mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9781032" 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="#33" class="mim-tip-reference" title="Reid, E., Grayson, C., Rubinsztein, D. C., Rogers, M. T., Rubinsztein, J. S. <strong>Subclinical cognitive impairment in autosomal dominant 'pure' hereditary spastic paraplegia.</strong> J. Med. Genet. 36: 797-798, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528866</a>] [<a href="https://doi.org/10.1136/jmg.36.10.797" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528866">Reid et al. (1999)</a> investigated 35 individuals from 4 families of Welsh origin, 22 of whom had 'pure' hereditary spastic paraplegia, for the presence of subclinical cognitive impairment. They found significant reductions in scores on the Mini-Mental State Examination (MMSE) among affected individuals compared to controls. To assess whether the lower MMSE scores were restricted to subjects older than 50 years, scores for affected subjects 50 years of age or younger were compared to those of controls. A significant difference in score remained. One of the families was linked to the chromosome 2 locus, while 2 others showed linkage to none of the loci known at that time. There was no significant difference between the results of these 2 groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528866" 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="#21" class="mim-tip-reference" title="McMonagle, P., Byrne, P. C., Fitzgerald, B., Webb, S., Parfrey, N. A., Hutchinson, M. <strong>Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations.</strong> Neurology 55: 1794-1800, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134375</a>] [<a href="https://doi.org/10.1212/wnl.55.12.1794" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11134375">McMonagle et al. (2000)</a> compared the phenotypic expressions of autosomal dominant hereditary spastic paresis in several families with a mutation in the SPG4 gene and several families without a mutation in SPG4. In the mutation-positive group, age of onset was later, disability score was greater, progression of disease was faster, wheelchair use was greater (40.9% vs 4.8% in the mutation-excluded group), there was greater abnormal vibration sensation in the lower limbs (68.2% vs 19%), and fewer individuals were asymptomatic (18.2% vs 42.9%). Dementia was more prevalent in the mutation-positive group. <a href="#21" class="mim-tip-reference" title="McMonagle, P., Byrne, P. C., Fitzgerald, B., Webb, S., Parfrey, N. A., Hutchinson, M. <strong>Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations.</strong> Neurology 55: 1794-1800, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134375</a>] [<a href="https://doi.org/10.1212/wnl.55.12.1794" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11134375">McMonagle et al. (2000)</a> emphasized the finding of cognitive impairment as a feature of SPG4 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11134375" 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="#40" class="mim-tip-reference" title="White, K. D., Ince, P. G., Lusher, M., Lindsey, J., Cookson, M., Bashir, R., Shaw, P. J., Bushby, K. M. D. <strong>Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.</strong> Neurology 55: 89-94, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891911</a>] [<a href="https://doi.org/10.1212/wnl.55.1.89" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10891911">White et al. (2000)</a> reported a patient with familial SPG4 who had clinical dementia. Postmortem neuropathologic examination showed neuronal loss and tau- (MAPT; <a href="/entry/157140">157140</a>) immunoreactive neurofibrillary tangles in the hippocampus and tau-immunoreactive balloon cells in the limbic area and neocortex. Lewy bodies were present in the substantia nigra. <a href="#40" class="mim-tip-reference" title="White, K. D., Ince, P. G., Lusher, M., Lindsey, J., Cookson, M., Bashir, R., Shaw, P. J., Bushby, K. M. D. <strong>Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.</strong> Neurology 55: 89-94, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891911</a>] [<a href="https://doi.org/10.1212/wnl.55.1.89" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10891911">White et al. (2000)</a> suggested that these findings confirmed an association of dementia with SPG4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10891911" 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="#22" class="mim-tip-reference" title="McMonagle, P., Byrne, P., Hutchinson, M. <strong>Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia.</strong> Neurology 62: 407-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14872021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14872021</a>] [<a href="https://doi.org/10.1212/01.wnl.0000108629.04434.05" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14872021">McMonagle et al. (2004)</a> used several measures of cognitive function to assess 11 patients from 3 families in whom SPG4 was confirmed by genetic analysis or linkage. SPG4 patients scored significantly lower on the Cambridge cognitive examination (CAMCOG) (mean score of 73.5 compared to 91.7 in controls). After approximately 3 years, the patients' mean score fell to 64.4, whereas the mean control score declined slightly to 90.8. Deficits in the SPG4 patients were noted in attention, language expression, memory, and abstraction. Behavior assessment found that SPG4 patients exhibited agitation, aggression, apathy, irritability, depression, and disinhibition. Accounting for age, <a href="#22" class="mim-tip-reference" title="McMonagle, P., Byrne, P., Hutchinson, M. <strong>Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia.</strong> Neurology 62: 407-410, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14872021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14872021</a>] [<a href="https://doi.org/10.1212/01.wnl.0000108629.04434.05" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14872021">McMonagle et al. (2004)</a> concluded that subtle changes in cognitive function in patients with SPG4 may begin after age 40 years, with more severe decline after age 60. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14872021" 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="#31" class="mim-tip-reference" title="Orlacchio, A., Kawarai, T., Totaro, A., Errico, A., St George-Hyslop, P. H., Rugarli, E. I., Bernardi, G. <strong>Hereditary spastic paraplegia: clinical genetic study of 15 families.</strong> Arch. Neurol. 61: 849-855, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15210521/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15210521</a>] [<a href="https://doi.org/10.1001/archneur.61.6.849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15210521">Orlacchio et al. (2004)</a> reported 32 patients from 9 families from southern Scotland with SPG4. Age at onset varied from 11 to 53 years. In addition to classic features of hereditary spastic paraplegia, 2 of the 32 patients had mental retardation and 2 other patients had a thin corpus callosum and cerebellar atrophy. All affected members had the same mutation in the SPG4 gene (<a href="/entry/604277#0014">604277.0014</a>), and haplotype analysis suggested a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15210521" 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="#30" class="mim-tip-reference" title="Orlacchio, A., Gaudiello, F., Totaro, A., Floris, R., St George-Hyslop, P. H., Bernardi, G., Kawarai, T. <strong>A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.</strong> Neurology 62: 1875-1878, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159500</a>] [<a href="https://doi.org/10.1212/01.wnl.0000125324.32082.d9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15159500">Orlacchio et al. (2004)</a> reported a large Italian family in which all 16 members who had SPG4 also had congenital arachnoid cysts at the cerebellopontine angle ranging in size from 21 to 31 mm. Six patients also had mental retardation. Genetic analysis confirmed a mutation in the SPG4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15159500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="McDermott, C. J., Burness, C. E., Kirby, J., Cox, L. E., Rao, D. G., Hewamadduma, C., Sharrack, B., Hadjivassiliou, M., Chinnery, P. F., Dalton, A., Shaw, P. J. <strong>Clinical features of hereditary spastic paraplegia due to spastin mutation.</strong> Neurology 67: 45-51, 2006. Note: Erratum: Neurology 72: 1534 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16832076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16832076</a>] [<a href="https://doi.org/10.1212/01.wnl.0000223315.62404.00" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16832076">McDermott et al. (2006)</a> reported a patient with SPG4 who developed walking difficulties in his late teens with deteriorating gait in his 20s; he was wheelchair-dependent at age 35. He later developed stiffness in the upper limbs, bladder dysfunction, dysarthria, and swallowing difficulties. In his 40s, he developed respiratory insufficiency and distal muscle wasting in the lower limbs. Molecular analysis identified a mutation in the SPG4 gene (S445R; <a href="/entry/604277#0021">604277.0021</a>). The findings of bulbar and respiratory involvement, as well as lower motor neuron degeneration, broadened the phenotype associated with mutations in the SPG4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16832076" 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="#32" class="mim-tip-reference" title="Orlacchio, A., Patrono, C., Gaudiello, F., Rocchi, C., Moschella, V., Floris, R., Bernardi, G., Kawarai, T. <strong>Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4.</strong> Neurology 70: 1959-1966, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18401025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18401025</a>] [<a href="https://doi.org/10.1212/01.wnl.0000294330.27058.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18401025">Orlacchio et al. (2008)</a> reported a large 4-generation Italian family with SPG4 confirmed by genetic analysis. The mean ages at onset were 17.5 and 18.8 years for symptoms of the lower and upper limbs, respectively. There was a general impression of genetic anticipation spanning the 4 generations. All affected individuals had spasticity of the lower limbs and pyramidal tract signs such as hyperreflexia, extensor plantar responses, or both, and pes cavus. All patients also had weak intrinsic hand muscles, with severe amyotrophy most relevant in the thenar eminence. Peroneal muscle wasting was reported in five patients, and many used a cane. Other associated features included impaired vibration sensation and cognitive dysfunctions. All patients except 1 had temporal lobe epilepsy with partial complex seizures associated with hippocampal sclerosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18401025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Murphy, S., Gorman, G., Beetz, C., Byrne, P., Dytko, M., McMonagle, P., Kinsella, K., Farrell, M., Hutchinson, M. <strong>Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.</strong> Neurology 73: 378-384, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19652142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19652142</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181b04c6c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19652142">Murphy et al. (2009)</a> reported a family in which 12 members had SPG4 due to a deletion of exon 17 in the SPG4 gene (<a href="#1" class="mim-tip-reference" title="Beetz, C., Zuchner, S., Ashley-Koch, A., Auer-Grumbach, M., Byrne, P., Chinnery, P. F., Hutchinson, M., McDermott, C. J., Meijer, I. A., Nygren, A. O. H., Pericak-Vance, M., Pyle, A., Rouleau, G. A., Schickel, J., Shaw, P. J., Deufel, T. <strong>Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. (Letter)</strong> Hum. Mutat. 28: 739-740, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17345589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17345589</a>] [<a href="https://doi.org/10.1002/humu.20508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17345589">Beetz et al., 2007</a>). Cognitive assessment performed over a 7-year period found that all 4 patients who were older than 60 years developed mild to moderate cognitive decline. Two younger patients aged 48 and 40, respectively, had mild cognitive impairment. Genetic analysis of this family was unusual because 4 patients with the SPG4 deletion also carried a microdeletion in the NIPA1 gene (<a href="/entry/608145">608145</a>), which causes SPG6 (<a href="/entry/600363">600363</a>); only 2 of these 4 had cognitive impairment. Five patients with only the SPG4 deletion had cognitive impairment, including 2 who did not have clinical signs of SPG. Another family member with only the NIPA1 microdeletion lacked clinical signs of SPG or cognitive impairment at age 57. <a href="#26" class="mim-tip-reference" title="Murphy, S., Gorman, G., Beetz, C., Byrne, P., Dytko, M., McMonagle, P., Kinsella, K., Farrell, M., Hutchinson, M. <strong>Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.</strong> Neurology 73: 378-384, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19652142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19652142</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181b04c6c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19652142">Murphy et al. (2009)</a> concluded that SPG4 is associated with cognitive decline, and that the SPG6 microdeletion does not have a clinical phenotype in this family. Postmortem examination of the proband, who had both deletions as well as SPG and cognitive impairment, showed a markedly atrophic spinal cord with degeneration of the corticospinal tracts, and superficial spongiosis and widespread ubiquitin-positive inclusions in the neocortex and white matter. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17345589+19652142" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of SPG4 in the families reported by <a href="#13" class="mim-tip-reference" title="Hazan, J., Fonknechten, N., Mavel, D., Paternotte, C., Samson, D., Artiguenave, F., Davoine, C.-S., Cruaud, C., Durr, A., Wincker, P., Brottier, P., Cattolico, L., Barbe, V., Burgunder, J.-M., Prud'homme, J.-F., Brice, A., Fontaine, B., Heilig, R., Weissenbach, J. <strong>Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.</strong> Nature Genet. 23: 296-303, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610178</a>] [<a href="https://doi.org/10.1038/15472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610178">Hazan et al. (1999)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10610178" 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 5 French families and 1 large Dutch pedigree with autosomal dominant spastic paraplegia, <a href="#14" class="mim-tip-reference" title="Hazan, J., Fontaine, B., Bruyn, R. P. M., Lamy, C., van Deutekom, J. C. T., Rime, C. S., Durr, A., Melki, J., Lyon-Caen, O., Agid, Y., Munnich, A., Padberg, G. W., de Recondo, J., Frants, R. R., Brice, A., Weissenbach, J. <strong>Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.</strong> Hum. Molec. Genet. 3: 1569-1573, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833913</a>] [<a href="https://doi.org/10.1093/hmg/3.9.1569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7833913">Hazan et al. (1994)</a> found linkage markers in the 2p24-p21 region. An analysis of recombination events and multipoint linkage placed this form of the disease within a 4-cM interval flanked by loci D2S400 and D2S367. In 4 Caucasian North American families and in 1 family from Tunisia, <a href="#16" class="mim-tip-reference" title="Hentati, A., Pericak-Vance, M. A., Lennon, F., Wasserman, B., Hentati, F., Juneja, T., Angrist, M. H., Hung, W.-Y., Boustany, R.-M., Bohlega, S., Iqbal, Z., Huether, C. H., Ben Hamida, M., Siddique, T. <strong>Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers.</strong> Hum. Molec. Genet. 3: 1867-1871, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849714</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1867" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849714">Hentati et al. (1994)</a> found linkage of late-onset SPG to DNA markers on chromosome 2p in 4 of the families. Pathologic findings in a member of one of the chromosome 2-linked families had previously been reported by <a href="#34" class="mim-tip-reference" title="Sack, G. H., Jr., Huether, C. A., Garg, N. <strong>Familial spastic paraplegia--clinical and pathologic studies in a large kindred.</strong> Johns Hopkins Med. J. 143: 117-121, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/703033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">703033</a>]" pmid="703033">Sack et al. (1978)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7849714+703033+7833913" 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="#35" class="mim-tip-reference" title="Scott, W. K., Gaskell, P. C., Lennon, F., Wolpert, C. M., Menold, M. M., Aylsworth, A. S., Warner, C., Farrell, C. D., Boustany, R.-M. N., Albright, S. G., Boyd, E., Kingston, H. M., Cumming, W. J. K., Vance, J. M., Pericak-Vance, M. A. <strong>Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia.</strong> Neurogenetics 1: 95-102, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10732810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10732810</a>] [<a href="https://doi.org/10.1007/s100480050014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10732810">Scott et al. (1997)</a> examined 11 Caucasian pedigrees with autosomal dominant 'uncomplicated' familial spastic paraplegia for linkage to the previously identified loci on 2p, 14q (SPG3A), and 15q (SPG6; <a href="/entry/600363">600363</a>). Chromosome 15q was excluded for all families. Five families showed evidence for linkage to 2p, 1 family to 14q, and 5 families remained indeterminate. Recombination events reduced the 2p minimum candidate region to a 3-cM interval between D2S352 and D2S367, and supported the previously reported 7-cM minimum candidate region for 14q. Age of onset was highly variable, indicating that subtypes of SPG are more appropriately defined on a genetic basis than by age of onset. Comparison of age of onset in parent-child pairs was suggestive of anticipation, with a median difference of 9.0 years (p less than 0.0001). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10732810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="Hazan, J., Fonknechten, N., Mavel, D., Paternotte, C., Samson, D., Artiguenave, F., Davoine, C.-S., Cruaud, C., Durr, A., Wincker, P., Brottier, P., Cattolico, L., Barbe, V., Burgunder, J.-M., Prud'homme, J.-F., Brice, A., Fontaine, B., Heilig, R., Weissenbach, J. <strong>Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.</strong> Nature Genet. 23: 296-303, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610178</a>] [<a href="https://doi.org/10.1038/15472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10610178">Hazan et al. (1999)</a> amplified and sequenced overlapping cDNA fragments spanning the entire spastin open reading frame from 1 individual of each of 14 families affected with spastic paraplegia and 6 control individuals. Using this technique, they identified heterozygous mutations in 5 families (<a href="/entry/604277#0001">604277.0001</a>-<a href="/entry/604277#0005">604277.0005</a>) with SPG4. Three unrelated affected individuals originating from the same area in Switzerland were heterozygous for a mutation in the acceptor splice site of SPAST intron 15 (<a href="/entry/604277#0005">604277.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10610178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Fonknechten, N., Mavel, D., Byrne, P., Davoine, C.-S., Cruaud, C., Bontsch, D., Samson, D., Coutinho, P., Hutchinson, M., McMonagle, P., Burgunder, J.-M., Tartaglione, A., and 10 others. <strong>Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.</strong> Hum. Molec. Genet. 9: 637-644, 2000. Note: Erratum: Hum. Molec. Genet. 14: 461 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10699187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10699187</a>] [<a href="https://doi.org/10.1093/hmg/9.4.637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10699187">Fonknechten et al. (2000)</a> analyzed DNA from 87 unrelated patients with autosomal dominant hereditary spastic paraplegia and detected 34 novel mutations scattered along the coding region of the SPAST gene (see, e.g., <a href="/entry/604277#0007">604277.0007</a>-<a href="/entry/604277#0008">604277.0008</a>). They found missense (28%), nonsense (15%), and splice site point (26.5%) mutations as well as deletions (23%) and insertions (7.5%). Mean age at onset was 29 +/- 17 years, with a range of 0 to 74 years. Disease severity was highly variable among patients, and disease progression was actually faster in the late-onset group. Penetrance was age-dependent and incomplete even in older mutation carriers (85% after 40 years). Six percent of 238 mutation carriers were asymptomatic, while 20% of carriers were unaware of their symptoms. There was no difference in either age of onset or clinical severity among groups of patients with missense mutations versus truncation mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10699187" 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="#38" class="mim-tip-reference" title="Svenson, I. K., Ashley-Koch, A. E., Gaskell, P. C., Riney, T. J., Cumming, W. J. K., Kingston, H. M., Hogan, E. L., Boustany, R.-M. N., Vance, J. M., Nance, M. A., Pericak-Vance, M. A., Marchuk, D. A. <strong>Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.</strong> Am. J. Hum. Genet. 68: 1077-1085, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11309678[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11309678">Svenson et al. (2001)</a> stated that pure hereditary spastic paraplegia type 4 is the most common form of autosomal dominant hereditary SPG. They screened the SPAST gene for mutations in 15 families showing linkage to the SPG4 locus and identified 11 mutations, 10 of which were novel (see, e.g., <a href="/entry/604277#0011">604277.0011</a>-<a href="/entry/604277#0012">604277.0012</a>). In 15 of 76 unrelated individuals with hereditary spastic paraplegia, <a href="#23" class="mim-tip-reference" title="Meijer, I. A., Hand, C. K., Cossette, P., Figlewicz, D. A., Rouleau, G. A. <strong>Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.</strong> Arch. Neurol. 59: 281-286, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11843700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11843700</a>] [<a href="https://doi.org/10.1001/archneur.59.2.281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11843700">Meijer et al. (2002)</a> identified 5 previously reported mutations and 8 novel mutations in the SPG4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11843700+11309678" 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="#39" class="mim-tip-reference" title="Svenson, I. K., Kloos, M. T., Gaskell, P. C., Nance, M. A., Garbern, J. Y., Hisanaga, S., Pericak-Vance, M. A., Ashley-Koch, A. E., Marchuk, D. A. <strong>Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.</strong> Neurogenetics 5: 157-164, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15248095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15248095</a>] [<a href="https://doi.org/10.1007/s10048-004-0186-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15248095">Svenson et al. (2004)</a> identified 2 rare polymorphisms in the SPG4 gene: ser44 to leu (S44L; <a href="/entry/604277#0015">604277.0015</a>) and pro45 to gln (P45Q; <a href="/entry/604277#0017">604277.0017</a>). In affected members of 4 SPG4 families, the presence of either the S44L or P45Q polymorphism in addition to a disease-causing SPG4 mutation (see, e.g., <a href="/entry/604277#0016">604277.0016</a>; <a href="/entry/604277#0018">604277.0018</a>) resulted in an earlier age at disease onset. <a href="#39" class="mim-tip-reference" title="Svenson, I. K., Kloos, M. T., Gaskell, P. C., Nance, M. A., Garbern, J. Y., Hisanaga, S., Pericak-Vance, M. A., Ashley-Koch, A. E., Marchuk, D. A. <strong>Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.</strong> Neurogenetics 5: 157-164, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15248095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15248095</a>] [<a href="https://doi.org/10.1007/s10048-004-0186-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15248095">Svenson et al. (2004)</a> concluded that the S44L and P45Q polymorphisms, though benign alone, modified the SPG4 phenotype when present with another SPG4 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15248095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Depienne, C., Tallaksen, C., Lephay, J. Y., Bricka, B., Poea-Guyon, S., Fontaine, B., Labauge, P., Brice, A., Durr, A. <strong>Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different than that observed in familial cases. (Letter)</strong> J. Med. Genet. 43: 259-265, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16055926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16055926</a>] [<a href="https://doi.org/10.1136/jmg.2005.035311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16055926">Depienne et al. (2006)</a> identified 19 different mutations in the SPG4 gene in 18 (12%) of 146 unrelated mostly European patients with progressive spastic paraplegia. Most of the patients had no family history of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16055926" 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 13 (26%) of 50 unrelated Italian patients with pure hereditary spastic paraplegia (HSP), <a href="#6" class="mim-tip-reference" title="Crippa, F., Panzeri, C., Martinuzzi, A., Arnoldi, A., Redaelli, F., Tonelli, A., Baschirotto, C., Vazza, G., Mostacciuolo, M. L., Daga, A., Orso, G., Profice, P., and 13 others. <strong>Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.</strong> Arch. Neurol. 63: 750-755, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16682546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16682546</a>] [<a href="https://doi.org/10.1001/archneur.63.5.750" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16682546">Crippa et al. (2006)</a> identified 12 different mutations in the SPG4 gene, including 8 novel mutations. All 5 of the familial cases analyzed carried an SPG4 mutation, confirming that the most common form of autosomal dominant HSP is caused by mutations in this gene. Eight (18%) of 45 sporadic patients had a SPG4 mutation. No mutations were identified in 10 additional patients with complicated HSP. Genotype-phenotype correlations were not observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16682546" 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 24 (20%) of 121 probands with autosomal dominant SPG in whom mutations in the SPG4 gene were not detected by DHPLC, <a href="#7" class="mim-tip-reference" title="Depienne, C., Fedirko, E., Forlani, S., Cazeneuve, C., Ribai, P., Feki, I., Tallaksen, C., Nguyen, K., Stankoff, B., Ruberg, M., Stevanin, G., Durr, A., Brice, A. <strong>Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. (Letter)</strong> J. Med. Genet. 44: 281-284, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17098887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17098887</a>] [<a href="https://doi.org/10.1136/jmg.2006.046425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17098887">Depienne et al. (2007)</a> identified 16 different heterozygous exonic deletions in the SPG4 gene using multiplex ligation-dependent probe amplification (MLPA). The deletions ranged in size from 1 exon to the whole coding sequence. The patients with deletions showed a similar clinical phenotype as those with point mutations but an earlier age at onset. The findings confirmed that haploinsufficiency of SPG4 is a major cause of autosomal dominant SPG and that exonic deletions account for a large proportion of mutation-negative SPG4 patients, justifying the inclusion of gene dosage studies in appropriate clinical scenarios. <a href="#7" class="mim-tip-reference" title="Depienne, C., Fedirko, E., Forlani, S., Cazeneuve, C., Ribai, P., Feki, I., Tallaksen, C., Nguyen, K., Stankoff, B., Ruberg, M., Stevanin, G., Durr, A., Brice, A. <strong>Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. (Letter)</strong> J. Med. Genet. 44: 281-284, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17098887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17098887</a>] [<a href="https://doi.org/10.1136/jmg.2006.046425" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17098887">Depienne et al. (2007)</a> stated that over 150 different pathogenic mutations in the SPG4 gene had been identified to date. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17098887" 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>Using MLPA analysis, <a href="#1" class="mim-tip-reference" title="Beetz, C., Zuchner, S., Ashley-Koch, A., Auer-Grumbach, M., Byrne, P., Chinnery, P. F., Hutchinson, M., McDermott, C. J., Meijer, I. A., Nygren, A. O. H., Pericak-Vance, M., Pyle, A., Rouleau, G. A., Schickel, J., Shaw, P. J., Deufel, T. <strong>Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. (Letter)</strong> Hum. Mutat. 28: 739-740, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17345589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17345589</a>] [<a href="https://doi.org/10.1002/humu.20508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17345589">Beetz et al. (2007)</a> identified partial deletions of the SPG4 gene in 7 of 8 families who had been linked to the region, but in whom mutation screening had not identified mutations. The families had previously been reported by <a href="#19" class="mim-tip-reference" title="Lindsey, J. C., Lusher, M. E., McDermott, C. J., White, K. D., Reid, E., Rubinsztein, D. C., Bashir, R., Hazan, J., Shaw, P. J., Bushby, K. M. D. <strong>Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.</strong> J. Med. Genet. 37: 759-765, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11015453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11015453</a>] [<a href="https://doi.org/10.1136/jmg.37.10.759" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11015453">Lindsey et al. (2000)</a>, <a href="#21" class="mim-tip-reference" title="McMonagle, P., Byrne, P. C., Fitzgerald, B., Webb, S., Parfrey, N. A., Hutchinson, M. <strong>Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations.</strong> Neurology 55: 1794-1800, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11134375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11134375</a>] [<a href="https://doi.org/10.1212/wnl.55.12.1794" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11134375">McMonagle et al. (2000)</a>, <a href="#23" class="mim-tip-reference" title="Meijer, I. A., Hand, C. K., Cossette, P., Figlewicz, D. A., Rouleau, G. A. <strong>Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.</strong> Arch. Neurol. 59: 281-286, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11843700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11843700</a>] [<a href="https://doi.org/10.1001/archneur.59.2.281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11843700">Meijer et al. (2002)</a>, and <a href="#38" class="mim-tip-reference" title="Svenson, I. K., Ashley-Koch, A. E., Gaskell, P. C., Riney, T. J., Cumming, W. J. K., Kingston, H. M., Hogan, E. L., Boustany, R.-M. N., Vance, J. M., Nance, M. A., Pericak-Vance, M. A., Marchuk, D. A. <strong>Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.</strong> Am. J. Hum. Genet. 68: 1077-1085, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11309678[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11309678">Svenson et al. (2001)</a>. The findings indicated that large genomic deletions in SPG4 are not uncommon and should be part of a workup for autosomal dominant SPG. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11015453+11134375+17345589+11843700+11309678" 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="#24" class="mim-tip-reference" title="Mitne-Neto, M., Kok, F., Beetz, C., Pessoa, A., Bueno, C., Graciani, Z., Martyn, M., Monteiro, C. B. M., Mitne, G., Hubert, P., Nygren, A. O. H., Valadares, M., Cerqueira, A. M. P., Starling, A., Deufel, T., Zatz, M. <strong>A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.</strong> Europ. J. Hum. Genet. 15: 1276-1279, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17895902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17895902</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201924" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17895902">Mitne-Neto et al. (2007)</a> identified a heterozygous tandem duplication of exons 10 through 12 of the SPG4 gene (<a href="/entry/604277#0022">604277.0022</a>) in affected individuals of a large Brazilian kindred with spastic paraplegia, originally reported by <a href="#37" class="mim-tip-reference" title="Starling, A., Rocco, P., Passos-Bueno, M. R., Hazan, J., Marie, S. K., Zatz, M. <strong>Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.</strong> J. Med. Genet. 39: e77, 2002. Note: Electronic article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12471215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12471215</a>] [<a href="https://doi.org/10.1136/jmg.39.12.e77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12471215">Starling et al. (2002)</a>. In this family, <a href="#37" class="mim-tip-reference" title="Starling, A., Rocco, P., Passos-Bueno, M. R., Hazan, J., Marie, S. K., Zatz, M. <strong>Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.</strong> J. Med. Genet. 39: e77, 2002. Note: Electronic article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12471215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12471215</a>] [<a href="https://doi.org/10.1136/jmg.39.12.e77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12471215">Starling et al. (2002)</a> noted that there were 24 affected men and only 1 affected woman, but X-linked inheritance was ruled out. The authors found strong linkage to the SPG4 locus, but no mutations were identified in the coding region of the SPG4 gene. The results of <a href="#24" class="mim-tip-reference" title="Mitne-Neto, M., Kok, F., Beetz, C., Pessoa, A., Bueno, C., Graciani, Z., Martyn, M., Monteiro, C. B. M., Mitne, G., Hubert, P., Nygren, A. O. H., Valadares, M., Cerqueira, A. M. P., Starling, A., Deufel, T., Zatz, M. <strong>A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.</strong> Europ. J. Hum. Genet. 15: 1276-1279, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17895902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17895902</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201924" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17895902">Mitne-Neto et al. (2007)</a> thus confirmed the diagnosis of SPG4. At the time of the latter report, 12 of 30 mutation carriers had no clinical complaints. Among these patients, 9 of 14 female carriers had no complaints, indicating sex-dependent penetrance in this family, with women being partially protected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17895902+12471215" 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="#36" class="mim-tip-reference" title="Shoukier, M., Neesen, J., Sauter, S. M., Argyriou, L., Doerwald, N., Pantakani, D. V. K., Mannan, A. U. <strong>Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.</strong> Europ. J. Hum. Genet. 17: 187-194, 2009. Note: Erratum: Europ. J. Hum. Genet. 17: 401-402, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18701882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18701882</a>] [<a href="https://doi.org/10.1038/ejhg.2008.147" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18701882">Shoukier et al. (2009)</a> identified SPG4 mutations in 57 (28.5%) of 200 unrelated, mostly German patients with SPG. There were 47 distinct mutations identified, including 29 novel mutations. In a review of other reported mutations, the authors found that most (72.7%) of the mutations were clustered in the C-terminal AAA domain of the SPG4 gene. However, clustering was also observed in the MIT (microtubule interacting and trafficking), MTBD (microtubule-binding domain), and an N-terminal region (residues 228 to 269). In the original cohort of 57 patients, there was a tentative genotype-phenotype correlation indicating that missense mutations were associated with an earlier onset of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18701882" 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>Among 49 Japanese probands with autosomal dominant SPG who underwent analysis of candidate SPG genes, <a href="#18" class="mim-tip-reference" title="Ishiura, H., Takahashi, Y., Hayashi, T., Saito, K., Furuya, H., Watanabe, M., Murata, M., Suzuki, M., Sugiura, A., Sawai, S., Shibuya, K., Ueda, N., Ichikawa, Y., Kanazawa, I., Goto, J., Tsuji, S. <strong>Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.</strong> J. Hum. Genet. 59: 163-172, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24451228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24451228</a>] [<a href="https://doi.org/10.1038/jhg.2013.139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24451228">Ishiura et al. (2014)</a> found that SPG4 was the most common type, accounting for 55.1% of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24451228" 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="Du, F., Ozdowski, E. F., Kotowski, I. K., Marchuk, D. A., Sherwood, N. T. <strong>Functional conservation of human spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.</strong> Hum. Molec. Genet. 19: 1883-1896, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20154342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20154342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20154342[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20154342">Du et al. (2010)</a> showed that exogenous expression of wildtype Drosophila or human spastin rescued behavioral and cellular defects in spastin-null flies equivalently. Flies coexpressing 1 copy of wildtype human spastin and 1 copy with the K388R catalytic domain mutation in the fly spastin-null background exhibited aberrant distal synapse morphology and microtubule distribution, similar to but less severe than spastin nulls. R388 or a separate nonsense mutation acted dominantly and were sufficient to confer partial rescue. As in humans, both L44 (<a href="/entry/604277#0015">604277.0015</a>) and Q45 (<a href="/entry/604277#0017">604277.0017</a>) were largely silent when heterozygous, but exacerbated mutant phenotypes when expressed in trans with R388. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20154342" 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="#25" class="mim-tip-reference" title="Miura, S., Shibata, H., Kida, H., Noda, K., Toyama, T., Iwasaki, N., Iwaki, A., Ayabe, M., Aizawa, H., Taniwaki, T., Fukumaki, Y. <strong>Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.</strong> Neurogenetics 12: 25-31, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20857310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20857310</a>] [<a href="https://doi.org/10.1007/s10048-010-0260-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20857310">Miura et al. (2011)</a> reported a 4-generation Japanese family from the Miyazaki prefecture in southern Japan with autosomal dominant SPG. RT-PCR and sequencing of affected individuals identified a heterozygous 70-kb deletion of 2p23 encompassing exons 1 to 4 of the SPAST gene as well as exons 1 to 3 of the neighboring DPY30 (<a href="/entry/612032">612032</a>) gene, located approximately 24 kb upstream of SPAST in a head-to-head orientation. The clinical features included early childhood onset of slowly progressive spastic paraplegia, decreased vibration sense at the ankles, urinary disturbances, and mild cognitive impairment. All 4 affected females had miscarriages, which <a href="#25" class="mim-tip-reference" title="Miura, S., Shibata, H., Kida, H., Noda, K., Toyama, T., Iwasaki, N., Iwaki, A., Ayabe, M., Aizawa, H., Taniwaki, T., Fukumaki, Y. <strong>Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.</strong> Neurogenetics 12: 25-31, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20857310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20857310</a>] [<a href="https://doi.org/10.1007/s10048-010-0260-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20857310">Miura et al. (2011)</a> speculated may have resulted from loss of DPY30, which plays a role in the regulation of X chromosome dosage compensation and possibly affects sex determination in C. elegans (<a href="#17" class="mim-tip-reference" title="Hsu, D. R., Meyer, B. J. <strong>The dpy-30 gene encodes an essential component of the Caenorhabditis elegans dosage compensation machinery.</strong> Genetics 137: 999-1018, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7982580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7982580</a>] [<a href="https://doi.org/10.1093/genetics/137.4.999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7982580">Hsu and Meyer, 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20857310+7982580" 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="#15" class="mim-tip-reference" title="Hazan, J., Lamy, C., Melki, J., Munnich, A., de Recondo, J., Weissenbach, J. <strong>Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.</strong> Nature Genet. 5: 163-167, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8252041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8252041</a>] [<a href="https://doi.org/10.1038/ng1093-163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8252041">Hazan et al. (1993)</a> referred to the form of autosomal dominant spastic paraplegia encoded by a gene on chromosome 14q as FSP1, and <a href="#14" class="mim-tip-reference" title="Hazan, J., Fontaine, B., Bruyn, R. P. M., Lamy, C., van Deutekom, J. C. T., Rime, C. S., Durr, A., Melki, J., Lyon-Caen, O., Agid, Y., Munnich, A., Padberg, G. W., de Recondo, J., Frants, R. R., Brice, A., Weissenbach, J. <strong>Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.</strong> Hum. Molec. Genet. 3: 1569-1573, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7833913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7833913</a>] [<a href="https://doi.org/10.1093/hmg/3.9.1569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7833913">Hazan et al. (1994)</a> referred to the form encoded by a gene on chromosome 2p as FSP2. The genes for these 2 disorders are also symbolized SPG3 and SPG4, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8252041+7833913" 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>Using the repeat expansion detection (RED) method, <a href="#28" class="mim-tip-reference" title="Nielsen, J. E., Koefoed, P., Abell, K., Hasholt, L., Eiberg, H., Fenger, K., Niebuhr, E., Sorensen, S. A. <strong>CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.</strong> Hum. Molec. Genet. 6: 1811-1816, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9302257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9302257</a>] [<a href="https://doi.org/10.1093/hmg/6.11.1811" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9302257">Nielsen et al. (1997)</a> analyzed 21 affected individuals from 6 SPG4 Danish families with SPG linked to 2p24-p21. They found that 20 of 21 affected individuals showed CAG repeat expansions of the SPG4 gene versus 2 of 21 healthy spouses, demonstrating a strongly statistically significant association between the occurrence of the repeat expansion and the disease. <a href="#12" class="mim-tip-reference" title="Hazan, J., Davoine, C. S., Mavel, D., Fonknechten, N., Paternotte, C., Fizames, C., Cruaud, C., Samson, D., Muselet, D., Vega-Czarny, N., Brice, A., Gyapay, G., Heilig, R., Fontaine, B., Weissenbach, J. <strong>A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.</strong> Genomics 60: 309-319, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10493830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10493830</a>] [<a href="https://doi.org/10.1006/geno.1999.5932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10493830">Hazan et al. (1999)</a>, however, constructed a detailed high-resolution integrated map of the SPG4 locus that excluded the involvement of a CAG repeat expansion in SPG4-linked autosomal dominant spastic paraplegia. They noted that an analysis of 20 autosomal dominant hereditary spastic paraplegia families, including 4 linked to the SPG4 locus, by <a href="#2" class="mim-tip-reference" title="Benson, K. F., Horwitz, M., Wolff, J., Friend, K., Thompson, E., White, S., Richards, R. I., Raskind, W. H., Bird, T. D. <strong>CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients.</strong> Hum. Molec. Genet. 7: 1779-1786, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9736780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9736780</a>] [<a href="https://doi.org/10.1093/hmg/7.11.1779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9736780">Benson et al. (1998)</a> had demonstrated that most repeat expansions detected by the RED method were caused by nonpathogenic expansions at the 18q21.1 SEF2 (<a href="/entry/602272">602272</a>) and 17q21.3 ERDA1 (<a href="/entry/603279">603279</a>) loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10493830+9302257+9736780" 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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Benson, K. F., Horwitz, M., Wolff, J., Friend, K., Thompson, E., White, S., Richards, R. I., Raskind, W. H., Bird, T. D.
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<strong>CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9736780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9736780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9736780" 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/hmg/7.11.1779" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.37.6.910" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9781032" 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/sj.ejhg.5200185" target="_blank">Full Text</a>]
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Crippa, F., Panzeri, C., Martinuzzi, A., Arnoldi, A., Redaelli, F., Tonelli, A., Baschirotto, C., Vazza, G., Mostacciuolo, M. L., Daga, A., Orso, G., Profice, P., and 13 others.
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[<a href="https://doi.org/10.1001/archneur.63.5.750" target="_blank">Full Text</a>]
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Depienne, C., Fedirko, E., Forlani, S., Cazeneuve, C., Ribai, P., Feki, I., Tallaksen, C., Nguyen, K., Stankoff, B., Ruberg, M., Stevanin, G., Durr, A., Brice, A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17098887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17098887</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17098887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2006.046425" target="_blank">Full Text</a>]
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Depienne, C., Tallaksen, C., Lephay, J. Y., Bricka, B., Poea-Guyon, S., Fontaine, B., Labauge, P., Brice, A., Durr, A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16055926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16055926</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16055926" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2005.035311" target="_blank">Full Text</a>]
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Du, F., Ozdowski, E. F., Kotowski, I. K., Marchuk, D. A., Sherwood, N. T.
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<strong>Functional conservation of human spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20154342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20154342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20154342[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20154342" 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/hmg/ddq064" target="_blank">Full Text</a>]
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<a id="Durr1996" class="mim-anchor"></a>
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Durr, A., Davoine, C.-S., Paternotte, C., von Fellenberg, J., Cogilinicean, S., Coutinho, P., Lamy, C., Bourgeois, S., Prud'homme, J. F., Penet, C., Burgunder, J. M., Hazan, J., Weissenbach, J., Brice, A., Fontaine, B.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8931574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8931574</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8931574" 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/119.5.1487" target="_blank">Full Text</a>]
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<a id="Fonknechten2000" class="mim-anchor"></a>
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Fonknechten, N., Mavel, D., Byrne, P., Davoine, C.-S., Cruaud, C., Bontsch, D., Samson, D., Coutinho, P., Hutchinson, M., McMonagle, P., Burgunder, J.-M., Tartaglione, A., and 10 others.
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<strong>Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.</strong>
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Hum. Molec. Genet. 9: 637-644, 2000. Note: Erratum: Hum. Molec. Genet. 14: 461 only, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10699187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10699187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10699187" 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/hmg/9.4.637" target="_blank">Full Text</a>]
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<a id="Hazan1999" class="mim-anchor"></a>
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Hazan, J., Davoine, C. S., Mavel, D., Fonknechten, N., Paternotte, C., Fizames, C., Cruaud, C., Samson, D., Muselet, D., Vega-Czarny, N., Brice, A., Gyapay, G., Heilig, R., Fontaine, B., Weissenbach, J.
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<strong>A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.</strong>
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Genomics 60: 309-319, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10493830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10493830</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10493830" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1999.5932" target="_blank">Full Text</a>]
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<a id="Hazan1999" class="mim-anchor"></a>
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Hazan, J., Fonknechten, N., Mavel, D., Paternotte, C., Samson, D., Artiguenave, F., Davoine, C.-S., Cruaud, C., Durr, A., Wincker, P., Brottier, P., Cattolico, L., Barbe, V., Burgunder, J.-M., Prud'homme, J.-F., Brice, A., Fontaine, B., Heilig, R., Weissenbach, J.
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<strong>Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.</strong>
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Nature Genet. 23: 296-303, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10610178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10610178</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10610178" 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/10.1038/15472" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/3.9.1569" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15159500" 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.0000125324.32082.d9" target="_blank">Full Text</a>]
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Orlacchio, A., Kawarai, T., Totaro, A., Errico, A., St George-Hyslop, P. H., Rugarli, E. I., Bernardi, G.
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<strong>Hereditary spastic paraplegia: clinical genetic study of 15 families.</strong>
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[<a href="https://doi.org/10.1001/archneur.61.6.849" target="_blank">Full Text</a>]
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Orlacchio, A., Patrono, C., Gaudiello, F., Rocchi, C., Moschella, V., Floris, R., Bernardi, G., Kawarai, T.
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<strong>Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4.</strong>
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Neurology 70: 1959-1966, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18401025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18401025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18401025" 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.0000294330.27058.61" target="_blank">Full Text</a>]
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<a id="Reid1999" class="mim-anchor"></a>
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Reid, E., Grayson, C., Rubinsztein, D. C., Rogers, M. T., Rubinsztein, J. S.
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<strong>Subclinical cognitive impairment in autosomal dominant 'pure' hereditary spastic paraplegia.</strong>
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J. Med. Genet. 36: 797-798, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528866</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528866" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.36.10.797" target="_blank">Full Text</a>]
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Sack, G. H., Jr., Huether, C. A., Garg, N.
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<strong>Familial spastic paraplegia--clinical and pathologic studies in a large kindred.</strong>
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Johns Hopkins Med. J. 143: 117-121, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/703033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">703033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=703033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Scott, W. K., Gaskell, P. C., Lennon, F., Wolpert, C. M., Menold, M. M., Aylsworth, A. S., Warner, C., Farrell, C. D., Boustany, R.-M. N., Albright, S. G., Boyd, E., Kingston, H. M., Cumming, W. J. K., Vance, J. M., Pericak-Vance, M. A.
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<strong>Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia.</strong>
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Neurogenetics 1: 95-102, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10732810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10732810</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10732810" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s100480050014" target="_blank">Full Text</a>]
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Shoukier, M., Neesen, J., Sauter, S. M., Argyriou, L., Doerwald, N., Pantakani, D. V. K., Mannan, A. U.
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<strong>Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.</strong>
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Europ. J. Hum. Genet. 17: 187-194, 2009. Note: Erratum: Europ. J. Hum. Genet. 17: 401-402, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18701882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18701882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18701882" 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/ejhg.2008.147" target="_blank">Full Text</a>]
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Starling, A., Rocco, P., Passos-Bueno, M. R., Hazan, J., Marie, S. K., Zatz, M.
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<strong>Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.</strong>
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J. Med. Genet. 39: e77, 2002. Note: Electronic article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12471215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12471215</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12471215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.39.12.e77" target="_blank">Full Text</a>]
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Svenson, I. K., Ashley-Koch, A. E., Gaskell, P. C., Riney, T. J., Cumming, W. J. K., Kingston, H. M., Hogan, E. L., Boustany, R.-M. N., Vance, J. M., Nance, M. A., Pericak-Vance, M. A., Marchuk, D. A.
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<strong>Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.</strong>
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Am. J. Hum. Genet. 68: 1077-1085, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11309678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11309678</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11309678[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11309678" 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/10.1086/320111" target="_blank">Full Text</a>]
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Svenson, I. K., Kloos, M. T., Gaskell, P. C., Nance, M. A., Garbern, J. Y., Hisanaga, S., Pericak-Vance, M. A., Ashley-Koch, A. E., Marchuk, D. A.
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<strong>Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.</strong>
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Neurogenetics 5: 157-164, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15248095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15248095</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15248095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10048-004-0186-z" target="_blank">Full Text</a>]
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White, K. D., Ince, P. G., Lusher, M., Lindsey, J., Cookson, M., Bashir, R., Shaw, P. J., Bushby, K. M. D.
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<strong>Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.</strong>
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Neurology 55: 89-94, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10891911" 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.55.1.89" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 4/21/2014
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Cassandra L. Kniffin - updated : 2/12/2013<br>Cassandra L. Kniffin - updated : 12/17/2009<br>Cassandra L. Kniffin - updated : 8/28/2009<br>Cassandra L. Kniffin - updated : 10/1/2008<br>Cassandra L. Kniffin - updated : 3/19/2008<br>Cassandra L. Kniffin - updated : 8/20/2007<br>Cassandra L. Kniffin - updated : 7/24/2007<br>Cassandra L. Kniffin - updated : 4/27/2007<br>Cassandra L. Kniffin - updated : 2/6/2007<br>Cassandra L. Kniffin - updated : 4/11/2006<br>Cassandra L. Kniffin - updated : 1/26/2005<br>Cassandra L. Kniffin - updated : 10/26/2004<br>Cassandra L. Kniffin - updated : 8/30/2004<br>Cassandra L. Kniffin - updated : 7/27/2004<br>Cassandra L. Kniffin - updated : 12/27/2002<br>Cassandra L. Kniffin - reorganized : 10/4/2002<br>Cassandra L. Kniffin - updated : 6/26/2002<br>Victor A. McKusick - updated : 6/15/2001<br>George E. Tiller - updated : 4/14/2000<br>Michael J. Wright - updated : 1/19/2000<br>Victor A. McKusick - updated : 11/2/1998<br>Victor A. McKusick - updated : 10/2/1998<br>Victor A. McKusick - updated : 8/17/1998<br>Victor A. McKusick - updated : 7/7/1998<br>Victor A. McKusick - updated : 5/5/1998<br>Victor A. McKusick - updated : 11/4/1997<br>Victor A. McKusick - updated : 5/30/1997
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Victor A. McKusick : 10/14/1993
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alopez : 11/17/2023<br>carol : 04/10/2023<br>carol : 10/09/2019<br>carol : 10/08/2019<br>carol : 08/31/2016<br>carol : 04/23/2014<br>ckniffin : 4/21/2014<br>tpirozzi : 8/14/2013<br>tpirozzi : 8/14/2013<br>tpirozzi : 8/14/2013<br>tpirozzi : 8/13/2013<br>terry : 3/15/2013<br>carol : 3/11/2013<br>carol : 3/11/2013<br>alopez : 2/18/2013<br>ckniffin : 2/12/2013<br>wwang : 3/2/2011<br>wwang : 1/8/2010<br>ckniffin : 12/17/2009<br>wwang : 9/14/2009<br>ckniffin : 8/28/2009<br>wwang : 11/11/2008<br>wwang : 10/3/2008<br>ckniffin : 10/1/2008<br>wwang : 4/10/2008<br>ckniffin : 3/19/2008<br>wwang : 9/6/2007<br>ckniffin : 8/20/2007<br>wwang : 8/3/2007<br>ckniffin : 7/24/2007<br>wwang : 6/8/2007<br>ckniffin : 4/27/2007<br>wwang : 2/8/2007<br>ckniffin : 2/6/2007<br>wwang : 4/20/2006<br>ckniffin : 4/11/2006<br>terry : 6/24/2005<br>tkritzer : 2/2/2005<br>ckniffin : 1/26/2005<br>tkritzer : 11/1/2004<br>ckniffin : 10/26/2004<br>carol : 9/7/2004<br>ckniffin : 8/30/2004<br>tkritzer : 7/28/2004<br>ckniffin : 7/27/2004<br>carol : 1/6/2003<br>ckniffin : 12/27/2002<br>carol : 10/4/2002<br>ckniffin : 9/30/2002<br>tkritzer : 8/9/2002<br>ckniffin : 6/26/2002<br>cwells : 6/27/2001<br>terry : 6/15/2001<br>alopez : 4/17/2000<br>terry : 4/14/2000<br>alopez : 1/19/2000<br>alopez : 11/9/1999<br>alopez : 11/2/1999<br>mgross : 9/24/1999<br>carol : 11/11/1998<br>terry : 11/2/1998<br>dkim : 10/12/1998<br>carol : 10/7/1998<br>terry : 10/2/1998<br>carol : 8/18/1998<br>terry : 8/17/1998<br>carol : 7/9/1998<br>terry : 7/7/1998<br>carol : 5/12/1998<br>terry : 5/5/1998<br>jenny : 11/12/1997<br>terry : 11/4/1997<br>alopez : 7/29/1997<br>terry : 7/7/1997<br>jenny : 6/3/1997<br>terry : 5/30/1997<br>mimadm : 3/25/1995<br>carol : 1/23/1995<br>terry : 11/16/1994<br>carol : 10/14/1993
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<strong>#</strong> 182601
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SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
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<em>Alternative titles; symbols</em>
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FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 2; FSP2
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<strong>SNOMEDCT:</strong> 723820001;
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<strong>ORPHA:</strong> 100985;
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<strong>DO:</strong> 0110792;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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Gene/Locus <br /> MIM number
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2p22.3
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Spastic paraplegia 4, autosomal dominant
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182601
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Autosomal dominant
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3
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SPAST
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604277
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because autosomal dominant spastic paraplegia-4 (SPG4) is caused by heterozygous mutation in the SPAST gene (604277) on chromosome 2p22.</p>
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<strong>Description</strong>
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<p>The hereditary spastic paraplegias (SPG, HSP) are a group of clinically and genetically diverse inherited disorders characterized predominantly by progressive lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated') or with other neurologic abnormalities ('complicated').</p><p>Pure SPG4 is the most common form of autosomal dominant hereditary SPG, comprising up to 45% of cases (Svenson et al., 2001; Crippa et al., 2006). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).</p>
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<strong>Clinical Features</strong>
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<p>In 5 of 7 French families and in 1 large Dutch pedigree with a form of autosomal dominant familial spastic paraplegia, Hazan et al. (1994) found linkage to a locus, which they termed FSP2 (also known as SPG4), on chromosome 2p. This finding distinguished the disease from autosomal dominant spastic paraplegia-3 (182600), which had been mapped to chromosome 14. Age of onset in the 6 families showing linkage to 2p varied widely within families and the mean age at onset ranged from 20 to 39 years. Thus, age of onset may be a poor criterion for classifying autosomal dominant spastic paraplegia. Anticipation in the age of onset was observed in 2 of the kindreds. </p><p>Durr et al. (1996) reported 12 families with autosomal dominant spastic paraplegia linked to the SPG4 locus on chromosome 2. Age of onset ranged from infancy to 63 years. The clinical expression of the disorder within a family included asymptomatic patients who were unaware of their condition, mildly affected individuals who had spastic gait but were able to walk independently, and severely affected patients who were wheelchair bound. Durr et al. (1996) commented on the extensive intra- and interfamilial clinical variation. </p><p>Nielsen et al. (1998) evaluated 5 families with 2p-linked pure spastic paraplegia. In 2 families, nonprogressive 'congenital' spastic paraplegia was seen in some affected members, whereas adult-onset progressive spastic paraplegia was present in others. Low backache was reported as a late symptom by 47% of the 63 at-risk members in the 5 families. Brain and total spinal cord MRI disclosed no significant abnormalities. Nielsen et al. (1998) concluded that SPG4 is a phenotypically heterogeneous disorder, characterized by both interfamilial and intrafamilial variation. </p><p>Nance et al. (1998) found striking variation in clinical features in 4 families with spastic paraplegia with linkage to chromosome 2 markers. Only mild neurologic signs were observed in some subjects. The clinical features of 1 family had previously been described by Boustany et al. (1987). Onset was generally in the third to fifth decades with an average onset age of 35 years (range, 5 to 61 years). All clearly affected patients had scissoring gait, and in all who were examined at least 2 of the following were found: extensor plantar responses, increased knee and ankle reflexes, increased tone, muscle spasms, or leg cramps. Urinary urgency or other symptoms compatible with a neurogenic bladder, leg weakness, and decreased vibration sense were present in some, but not all, patients. </p><p>Byrne et al. (1997, 1998) presented a family with autosomal dominant hereditary spastic paraplegia and a specific form of cognitive impairment who showed linkage to the SPG4 locus on chromosome 2. The pattern of cognitive impairment in this family was characterized primarily by deficits in visual-spatial functions. Dysfunction manifested itself by difficulty in carrying out new tasks, forgetfulness, poor spatial perception, and impaired visual-motor coordination. By haplotype analysis the presence of the mutant gene was identified in an individual who, at the age of 57, had the same pattern of cognitive impairment but no spastic paraplegia. Furthermore, 6 individuals who presented with the disease haplotype had normal neurologic and neuropsychologic examinations. All 6 were below the maximal age of onset in the family, namely, 60 years. In this Irish family the cognitive impairment was considered to be a manifestation of the SPG4 gene mutation. </p><p>Reid et al. (1999) investigated 35 individuals from 4 families of Welsh origin, 22 of whom had 'pure' hereditary spastic paraplegia, for the presence of subclinical cognitive impairment. They found significant reductions in scores on the Mini-Mental State Examination (MMSE) among affected individuals compared to controls. To assess whether the lower MMSE scores were restricted to subjects older than 50 years, scores for affected subjects 50 years of age or younger were compared to those of controls. A significant difference in score remained. One of the families was linked to the chromosome 2 locus, while 2 others showed linkage to none of the loci known at that time. There was no significant difference between the results of these 2 groups. </p><p>McMonagle et al. (2000) compared the phenotypic expressions of autosomal dominant hereditary spastic paresis in several families with a mutation in the SPG4 gene and several families without a mutation in SPG4. In the mutation-positive group, age of onset was later, disability score was greater, progression of disease was faster, wheelchair use was greater (40.9% vs 4.8% in the mutation-excluded group), there was greater abnormal vibration sensation in the lower limbs (68.2% vs 19%), and fewer individuals were asymptomatic (18.2% vs 42.9%). Dementia was more prevalent in the mutation-positive group. McMonagle et al. (2000) emphasized the finding of cognitive impairment as a feature of SPG4 mutations. </p><p>White et al. (2000) reported a patient with familial SPG4 who had clinical dementia. Postmortem neuropathologic examination showed neuronal loss and tau- (MAPT; 157140) immunoreactive neurofibrillary tangles in the hippocampus and tau-immunoreactive balloon cells in the limbic area and neocortex. Lewy bodies were present in the substantia nigra. White et al. (2000) suggested that these findings confirmed an association of dementia with SPG4. </p><p>McMonagle et al. (2004) used several measures of cognitive function to assess 11 patients from 3 families in whom SPG4 was confirmed by genetic analysis or linkage. SPG4 patients scored significantly lower on the Cambridge cognitive examination (CAMCOG) (mean score of 73.5 compared to 91.7 in controls). After approximately 3 years, the patients' mean score fell to 64.4, whereas the mean control score declined slightly to 90.8. Deficits in the SPG4 patients were noted in attention, language expression, memory, and abstraction. Behavior assessment found that SPG4 patients exhibited agitation, aggression, apathy, irritability, depression, and disinhibition. Accounting for age, McMonagle et al. (2004) concluded that subtle changes in cognitive function in patients with SPG4 may begin after age 40 years, with more severe decline after age 60. </p><p>Orlacchio et al. (2004) reported 32 patients from 9 families from southern Scotland with SPG4. Age at onset varied from 11 to 53 years. In addition to classic features of hereditary spastic paraplegia, 2 of the 32 patients had mental retardation and 2 other patients had a thin corpus callosum and cerebellar atrophy. All affected members had the same mutation in the SPG4 gene (604277.0014), and haplotype analysis suggested a founder effect. </p><p>Orlacchio et al. (2004) reported a large Italian family in which all 16 members who had SPG4 also had congenital arachnoid cysts at the cerebellopontine angle ranging in size from 21 to 31 mm. Six patients also had mental retardation. Genetic analysis confirmed a mutation in the SPG4 gene. </p><p>McDermott et al. (2006) reported a patient with SPG4 who developed walking difficulties in his late teens with deteriorating gait in his 20s; he was wheelchair-dependent at age 35. He later developed stiffness in the upper limbs, bladder dysfunction, dysarthria, and swallowing difficulties. In his 40s, he developed respiratory insufficiency and distal muscle wasting in the lower limbs. Molecular analysis identified a mutation in the SPG4 gene (S445R; 604277.0021). The findings of bulbar and respiratory involvement, as well as lower motor neuron degeneration, broadened the phenotype associated with mutations in the SPG4 gene. </p><p>Orlacchio et al. (2008) reported a large 4-generation Italian family with SPG4 confirmed by genetic analysis. The mean ages at onset were 17.5 and 18.8 years for symptoms of the lower and upper limbs, respectively. There was a general impression of genetic anticipation spanning the 4 generations. All affected individuals had spasticity of the lower limbs and pyramidal tract signs such as hyperreflexia, extensor plantar responses, or both, and pes cavus. All patients also had weak intrinsic hand muscles, with severe amyotrophy most relevant in the thenar eminence. Peroneal muscle wasting was reported in five patients, and many used a cane. Other associated features included impaired vibration sensation and cognitive dysfunctions. All patients except 1 had temporal lobe epilepsy with partial complex seizures associated with hippocampal sclerosis. </p><p>Murphy et al. (2009) reported a family in which 12 members had SPG4 due to a deletion of exon 17 in the SPG4 gene (Beetz et al., 2007). Cognitive assessment performed over a 7-year period found that all 4 patients who were older than 60 years developed mild to moderate cognitive decline. Two younger patients aged 48 and 40, respectively, had mild cognitive impairment. Genetic analysis of this family was unusual because 4 patients with the SPG4 deletion also carried a microdeletion in the NIPA1 gene (608145), which causes SPG6 (600363); only 2 of these 4 had cognitive impairment. Five patients with only the SPG4 deletion had cognitive impairment, including 2 who did not have clinical signs of SPG. Another family member with only the NIPA1 microdeletion lacked clinical signs of SPG or cognitive impairment at age 57. Murphy et al. (2009) concluded that SPG4 is associated with cognitive decline, and that the SPG6 microdeletion does not have a clinical phenotype in this family. Postmortem examination of the proband, who had both deletions as well as SPG and cognitive impairment, showed a markedly atrophic spinal cord with degeneration of the corticospinal tracts, and superficial spongiosis and widespread ubiquitin-positive inclusions in the neocortex and white matter. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of SPG4 in the families reported by Hazan et al. (1999) was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>In 5 French families and 1 large Dutch pedigree with autosomal dominant spastic paraplegia, Hazan et al. (1994) found linkage markers in the 2p24-p21 region. An analysis of recombination events and multipoint linkage placed this form of the disease within a 4-cM interval flanked by loci D2S400 and D2S367. In 4 Caucasian North American families and in 1 family from Tunisia, Hentati et al. (1994) found linkage of late-onset SPG to DNA markers on chromosome 2p in 4 of the families. Pathologic findings in a member of one of the chromosome 2-linked families had previously been reported by Sack et al. (1978). </p><p>Scott et al. (1997) examined 11 Caucasian pedigrees with autosomal dominant 'uncomplicated' familial spastic paraplegia for linkage to the previously identified loci on 2p, 14q (SPG3A), and 15q (SPG6; 600363). Chromosome 15q was excluded for all families. Five families showed evidence for linkage to 2p, 1 family to 14q, and 5 families remained indeterminate. Recombination events reduced the 2p minimum candidate region to a 3-cM interval between D2S352 and D2S367, and supported the previously reported 7-cM minimum candidate region for 14q. Age of onset was highly variable, indicating that subtypes of SPG are more appropriately defined on a genetic basis than by age of onset. Comparison of age of onset in parent-child pairs was suggestive of anticipation, with a median difference of 9.0 years (p less than 0.0001). </p>
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<strong>Molecular Genetics</strong>
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<p>Hazan et al. (1999) amplified and sequenced overlapping cDNA fragments spanning the entire spastin open reading frame from 1 individual of each of 14 families affected with spastic paraplegia and 6 control individuals. Using this technique, they identified heterozygous mutations in 5 families (604277.0001-604277.0005) with SPG4. Three unrelated affected individuals originating from the same area in Switzerland were heterozygous for a mutation in the acceptor splice site of SPAST intron 15 (604277.0005). </p><p>Fonknechten et al. (2000) analyzed DNA from 87 unrelated patients with autosomal dominant hereditary spastic paraplegia and detected 34 novel mutations scattered along the coding region of the SPAST gene (see, e.g., 604277.0007-604277.0008). They found missense (28%), nonsense (15%), and splice site point (26.5%) mutations as well as deletions (23%) and insertions (7.5%). Mean age at onset was 29 +/- 17 years, with a range of 0 to 74 years. Disease severity was highly variable among patients, and disease progression was actually faster in the late-onset group. Penetrance was age-dependent and incomplete even in older mutation carriers (85% after 40 years). Six percent of 238 mutation carriers were asymptomatic, while 20% of carriers were unaware of their symptoms. There was no difference in either age of onset or clinical severity among groups of patients with missense mutations versus truncation mutations. </p><p>Svenson et al. (2001) stated that pure hereditary spastic paraplegia type 4 is the most common form of autosomal dominant hereditary SPG. They screened the SPAST gene for mutations in 15 families showing linkage to the SPG4 locus and identified 11 mutations, 10 of which were novel (see, e.g., 604277.0011-604277.0012). In 15 of 76 unrelated individuals with hereditary spastic paraplegia, Meijer et al. (2002) identified 5 previously reported mutations and 8 novel mutations in the SPG4 gene. </p><p>Svenson et al. (2004) identified 2 rare polymorphisms in the SPG4 gene: ser44 to leu (S44L; 604277.0015) and pro45 to gln (P45Q; 604277.0017). In affected members of 4 SPG4 families, the presence of either the S44L or P45Q polymorphism in addition to a disease-causing SPG4 mutation (see, e.g., 604277.0016; 604277.0018) resulted in an earlier age at disease onset. Svenson et al. (2004) concluded that the S44L and P45Q polymorphisms, though benign alone, modified the SPG4 phenotype when present with another SPG4 mutation. </p><p>Depienne et al. (2006) identified 19 different mutations in the SPG4 gene in 18 (12%) of 146 unrelated mostly European patients with progressive spastic paraplegia. Most of the patients had no family history of the disorder. </p><p>In 13 (26%) of 50 unrelated Italian patients with pure hereditary spastic paraplegia (HSP), Crippa et al. (2006) identified 12 different mutations in the SPG4 gene, including 8 novel mutations. All 5 of the familial cases analyzed carried an SPG4 mutation, confirming that the most common form of autosomal dominant HSP is caused by mutations in this gene. Eight (18%) of 45 sporadic patients had a SPG4 mutation. No mutations were identified in 10 additional patients with complicated HSP. Genotype-phenotype correlations were not observed. </p><p>In 24 (20%) of 121 probands with autosomal dominant SPG in whom mutations in the SPG4 gene were not detected by DHPLC, Depienne et al. (2007) identified 16 different heterozygous exonic deletions in the SPG4 gene using multiplex ligation-dependent probe amplification (MLPA). The deletions ranged in size from 1 exon to the whole coding sequence. The patients with deletions showed a similar clinical phenotype as those with point mutations but an earlier age at onset. The findings confirmed that haploinsufficiency of SPG4 is a major cause of autosomal dominant SPG and that exonic deletions account for a large proportion of mutation-negative SPG4 patients, justifying the inclusion of gene dosage studies in appropriate clinical scenarios. Depienne et al. (2007) stated that over 150 different pathogenic mutations in the SPG4 gene had been identified to date. </p><p>Using MLPA analysis, Beetz et al. (2007) identified partial deletions of the SPG4 gene in 7 of 8 families who had been linked to the region, but in whom mutation screening had not identified mutations. The families had previously been reported by Lindsey et al. (2000), McMonagle et al. (2000), Meijer et al. (2002), and Svenson et al. (2001). The findings indicated that large genomic deletions in SPG4 are not uncommon and should be part of a workup for autosomal dominant SPG. </p><p>Mitne-Neto et al. (2007) identified a heterozygous tandem duplication of exons 10 through 12 of the SPG4 gene (604277.0022) in affected individuals of a large Brazilian kindred with spastic paraplegia, originally reported by Starling et al. (2002). In this family, Starling et al. (2002) noted that there were 24 affected men and only 1 affected woman, but X-linked inheritance was ruled out. The authors found strong linkage to the SPG4 locus, but no mutations were identified in the coding region of the SPG4 gene. The results of Mitne-Neto et al. (2007) thus confirmed the diagnosis of SPG4. At the time of the latter report, 12 of 30 mutation carriers had no clinical complaints. Among these patients, 9 of 14 female carriers had no complaints, indicating sex-dependent penetrance in this family, with women being partially protected. </p><p>Shoukier et al. (2009) identified SPG4 mutations in 57 (28.5%) of 200 unrelated, mostly German patients with SPG. There were 47 distinct mutations identified, including 29 novel mutations. In a review of other reported mutations, the authors found that most (72.7%) of the mutations were clustered in the C-terminal AAA domain of the SPG4 gene. However, clustering was also observed in the MIT (microtubule interacting and trafficking), MTBD (microtubule-binding domain), and an N-terminal region (residues 228 to 269). In the original cohort of 57 patients, there was a tentative genotype-phenotype correlation indicating that missense mutations were associated with an earlier onset of the disease. </p>
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<strong>Population Genetics</strong>
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<p>Among 49 Japanese probands with autosomal dominant SPG who underwent analysis of candidate SPG genes, Ishiura et al. (2014) found that SPG4 was the most common type, accounting for 55.1% of patients. </p>
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<strong>Animal Model</strong>
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<p>Du et al. (2010) showed that exogenous expression of wildtype Drosophila or human spastin rescued behavioral and cellular defects in spastin-null flies equivalently. Flies coexpressing 1 copy of wildtype human spastin and 1 copy with the K388R catalytic domain mutation in the fly spastin-null background exhibited aberrant distal synapse morphology and microtubule distribution, similar to but less severe than spastin nulls. R388 or a separate nonsense mutation acted dominantly and were sufficient to confer partial rescue. As in humans, both L44 (604277.0015) and Q45 (604277.0017) were largely silent when heterozygous, but exacerbated mutant phenotypes when expressed in trans with R388. </p>
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<strong>Cytogenetics</strong>
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<p>Miura et al. (2011) reported a 4-generation Japanese family from the Miyazaki prefecture in southern Japan with autosomal dominant SPG. RT-PCR and sequencing of affected individuals identified a heterozygous 70-kb deletion of 2p23 encompassing exons 1 to 4 of the SPAST gene as well as exons 1 to 3 of the neighboring DPY30 (612032) gene, located approximately 24 kb upstream of SPAST in a head-to-head orientation. The clinical features included early childhood onset of slowly progressive spastic paraplegia, decreased vibration sense at the ankles, urinary disturbances, and mild cognitive impairment. All 4 affected females had miscarriages, which Miura et al. (2011) speculated may have resulted from loss of DPY30, which plays a role in the regulation of X chromosome dosage compensation and possibly affects sex determination in C. elegans (Hsu and Meyer, 1994). </p>
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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>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hazan et al. (1993) referred to the form of autosomal dominant spastic paraplegia encoded by a gene on chromosome 14q as FSP1, and Hazan et al. (1994) referred to the form encoded by a gene on chromosome 2p as FSP2. The genes for these 2 disorders are also symbolized SPG3 and SPG4, respectively. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using the repeat expansion detection (RED) method, Nielsen et al. (1997) analyzed 21 affected individuals from 6 SPG4 Danish families with SPG linked to 2p24-p21. They found that 20 of 21 affected individuals showed CAG repeat expansions of the SPG4 gene versus 2 of 21 healthy spouses, demonstrating a strongly statistically significant association between the occurrence of the repeat expansion and the disease. Hazan et al. (1999), however, constructed a detailed high-resolution integrated map of the SPG4 locus that excluded the involvement of a CAG repeat expansion in SPG4-linked autosomal dominant spastic paraplegia. They noted that an analysis of 20 autosomal dominant hereditary spastic paraplegia families, including 4 linked to the SPG4 locus, by Benson et al. (1998) had demonstrated that most repeat expansions detected by the RED method were caused by nonpathogenic expansions at the 18q21.1 SEF2 (602272) and 17q21.3 ERDA1 (603279) loci. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Beetz, C., Zuchner, S., Ashley-Koch, A., Auer-Grumbach, M., Byrne, P., Chinnery, P. F., Hutchinson, M., McDermott, C. J., Meijer, I. A., Nygren, A. O. H., Pericak-Vance, M., Pyle, A., Rouleau, G. A., Schickel, J., Shaw, P. J., Deufel, T.
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<strong>Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. (Letter)</strong>
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Hum. Mutat. 28: 739-740, 2007.
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<p class="mim-text-font">
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Benson, K. F., Horwitz, M., Wolff, J., Friend, K., Thompson, E., White, S., Richards, R. I., Raskind, W. H., Bird, T. D.
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<strong>CAG repeat expansion in autosomal dominant familial spastic paraparesis: novel expansion in a subset of patients.</strong>
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Byrne, P. C., Webb, S., McSweeney, F., Burke, T., Hutchinson, M., Parfrey, N. A.
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<strong>Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance.</strong>
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Byrne, P., Webb, S., Harbourne, G., MacSweeney, F., Hutchinson, M., Parfrey, N. A.
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<strong>Clinically different forms of hereditary spastic paraplegia map to the same region of chromosome 2. (Abstract)</strong>
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<strong>Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.</strong>
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Depienne, C., Fedirko, E., Forlani, S., Cazeneuve, C., Ribai, P., Feki, I., Tallaksen, C., Nguyen, K., Stankoff, B., Ruberg, M., Stevanin, G., Durr, A., Brice, A.
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<strong>Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. (Letter)</strong>
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J. Med. Genet. 44: 281-284, 2007.
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Depienne, C., Tallaksen, C., Lephay, J. Y., Bricka, B., Poea-Guyon, S., Fontaine, B., Labauge, P., Brice, A., Durr, A.
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<strong>Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different than that observed in familial cases. (Letter)</strong>
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J. Med. Genet. 43: 259-265, 2006.
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[Full Text: https://doi.org/10.1136/jmg.2005.035311]
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Du, F., Ozdowski, E. F., Kotowski, I. K., Marchuk, D. A., Sherwood, N. T.
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<strong>Functional conservation of human spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.</strong>
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Hum. Molec. Genet. 19: 1883-1896, 2010.
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[Full Text: https://doi.org/10.1093/hmg/ddq064]
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<p class="mim-text-font">
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Durr, A., Davoine, C.-S., Paternotte, C., von Fellenberg, J., Cogilinicean, S., Coutinho, P., Lamy, C., Bourgeois, S., Prud'homme, J. F., Penet, C., Burgunder, J. M., Hazan, J., Weissenbach, J., Brice, A., Fontaine, B.
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<strong>Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.</strong>
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Brain 119: 1487-1496, 1996.
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[PubMed: 8931574]
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[Full Text: https://doi.org/10.1093/brain/119.5.1487]
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<p class="mim-text-font">
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Fonknechten, N., Mavel, D., Byrne, P., Davoine, C.-S., Cruaud, C., Bontsch, D., Samson, D., Coutinho, P., Hutchinson, M., McMonagle, P., Burgunder, J.-M., Tartaglione, A., and 10 others.
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<strong>Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.</strong>
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Hum. Molec. Genet. 9: 637-644, 2000. Note: Erratum: Hum. Molec. Genet. 14: 461 only, 2005.
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[Full Text: https://doi.org/10.1093/hmg/9.4.637]
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<p class="mim-text-font">
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Hazan, J., Davoine, C. S., Mavel, D., Fonknechten, N., Paternotte, C., Fizames, C., Cruaud, C., Samson, D., Muselet, D., Vega-Czarny, N., Brice, A., Gyapay, G., Heilig, R., Fontaine, B., Weissenbach, J.
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<strong>A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.</strong>
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Genomics 60: 309-319, 1999.
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[PubMed: 10493830]
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Hazan, J., Fonknechten, N., Mavel, D., Paternotte, C., Samson, D., Artiguenave, F., Davoine, C.-S., Cruaud, C., Durr, A., Wincker, P., Brottier, P., Cattolico, L., Barbe, V., Burgunder, J.-M., Prud'homme, J.-F., Brice, A., Fontaine, B., Heilig, R., Weissenbach, J.
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<strong>Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.</strong>
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Nature Genet. 23: 296-303, 1999.
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Hazan, J., Fontaine, B., Bruyn, R. P. M., Lamy, C., van Deutekom, J. C. T., Rime, C. S., Durr, A., Melki, J., Lyon-Caen, O., Agid, Y., Munnich, A., Padberg, G. W., de Recondo, J., Frants, R. R., Brice, A., Weissenbach, J.
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<strong>Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.</strong>
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Hum. Molec. Genet. 3: 1569-1573, 1994.
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Hazan, J., Lamy, C., Melki, J., Munnich, A., de Recondo, J., Weissenbach, J.
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<strong>Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.</strong>
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Ishiura, H., Takahashi, Y., Hayashi, T., Saito, K., Furuya, H., Watanabe, M., Murata, M., Suzuki, M., Sugiura, A., Sawai, S., Shibuya, K., Ueda, N., Ichikawa, Y., Kanazawa, I., Goto, J., Tsuji, S.
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Lindsey, J. C., Lusher, M. E., McDermott, C. J., White, K. D., Reid, E., Rubinsztein, D. C., Bashir, R., Hazan, J., Shaw, P. J., Bushby, K. M. D.
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<strong>Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.</strong>
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<p class="mim-text-font">
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McDermott, C. J., Burness, C. E., Kirby, J., Cox, L. E., Rao, D. G., Hewamadduma, C., Sharrack, B., Hadjivassiliou, M., Chinnery, P. F., Dalton, A., Shaw, P. J.
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<strong>Clinical features of hereditary spastic paraplegia due to spastin mutation.</strong>
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<p class="mim-text-font">
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McMonagle, P., Byrne, P. C., Fitzgerald, B., Webb, S., Parfrey, N. A., Hutchinson, M.
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<strong>Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations.</strong>
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Neurology 55: 1794-1800, 2000.
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[PubMed: 11134375]
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<p class="mim-text-font">
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McMonagle, P., Byrne, P., Hutchinson, M.
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<strong>Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia.</strong>
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Neurology 62: 407-410, 2004.
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[PubMed: 14872021]
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<p class="mim-text-font">
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Meijer, I. A., Hand, C. K., Cossette, P., Figlewicz, D. A., Rouleau, G. A.
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<strong>Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.</strong>
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Arch. Neurol. 59: 281-286, 2002.
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[PubMed: 11843700]
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<p class="mim-text-font">
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Mitne-Neto, M., Kok, F., Beetz, C., Pessoa, A., Bueno, C., Graciani, Z., Martyn, M., Monteiro, C. B. M., Mitne, G., Hubert, P., Nygren, A. O. H., Valadares, M., Cerqueira, A. M. P., Starling, A., Deufel, T., Zatz, M.
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<strong>A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.</strong>
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Europ. J. Hum. Genet. 15: 1276-1279, 2007.
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[PubMed: 17895902]
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<p class="mim-text-font">
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Miura, S., Shibata, H., Kida, H., Noda, K., Toyama, T., Iwasaki, N., Iwaki, A., Ayabe, M., Aizawa, H., Taniwaki, T., Fukumaki, Y.
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<strong>Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.</strong>
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Neurogenetics 12: 25-31, 2011.
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<p class="mim-text-font">
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Murphy, S., Gorman, G., Beetz, C., Byrne, P., Dytko, M., McMonagle, P., Kinsella, K., Farrell, M., Hutchinson, M.
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<strong>Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.</strong>
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Neurology 73: 378-384, 2009.
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[PubMed: 19652142]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181b04c6c]
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<p class="mim-text-font">
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Nance, M. A., Raabe, W. A., Midani, H., Kolodny, E. H., David, W. S., Megna, L., Pericak-Vance, M. A., Haines, J. L.
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<strong>Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21.</strong>
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|
Hum. Hered. 48: 169-178, 1998.
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Cassandra L. Kniffin - updated : 4/21/2014<br>Cassandra L. Kniffin - updated : 2/12/2013<br>Cassandra L. Kniffin - updated : 12/17/2009<br>Cassandra L. Kniffin - updated : 8/28/2009<br>Cassandra L. Kniffin - updated : 10/1/2008<br>Cassandra L. Kniffin - updated : 3/19/2008<br>Cassandra L. Kniffin - updated : 8/20/2007<br>Cassandra L. Kniffin - updated : 7/24/2007<br>Cassandra L. Kniffin - updated : 4/27/2007<br>Cassandra L. Kniffin - updated : 2/6/2007<br>Cassandra L. Kniffin - updated : 4/11/2006<br>Cassandra L. Kniffin - updated : 1/26/2005<br>Cassandra L. Kniffin - updated : 10/26/2004<br>Cassandra L. Kniffin - updated : 8/30/2004<br>Cassandra L. Kniffin - updated : 7/27/2004<br>Cassandra L. Kniffin - updated : 12/27/2002<br>Cassandra L. Kniffin - reorganized : 10/4/2002<br>Cassandra L. Kniffin - updated : 6/26/2002<br>Victor A. McKusick - updated : 6/15/2001<br>George E. Tiller - updated : 4/14/2000<br>Michael J. Wright - updated : 1/19/2000<br>Victor A. McKusick - updated : 11/2/1998<br>Victor A. McKusick - updated : 10/2/1998<br>Victor A. McKusick - updated : 8/17/1998<br>Victor A. McKusick - updated : 7/7/1998<br>Victor A. McKusick - updated : 5/5/1998<br>Victor A. McKusick - updated : 11/4/1997<br>Victor A. McKusick - updated : 5/30/1997
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