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Entry
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- #600142 - CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL
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- OMIM
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<p>
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<span class="h4">#600142</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/600142"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS125310"> <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="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY" 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=18409&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/NBK32533/" 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/1222" 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/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy" 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=600142[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=199354" 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:13945" 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/600142" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 703219008<br />
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<strong>ORPHA:</strong> 199354<br />
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<strong>DO:</strong> 13945<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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600142
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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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CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL
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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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MAEDA SYNDROME<br />
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SUBCORTICAL VASCULAR ENCEPHALOPATHY, PROGRESSIVE<br />
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CEREBROVASCULAR DISEASE WITH THIN SKIN, ALOPECIA, AND DISC DISEASE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/10/624?start=-3&limit=10&highlight=624">
|
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10q26.13
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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CARASIL syndrome
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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/600142"> 600142 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
HTRA1
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/602194"> 602194 </a>
|
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</span>
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/600142" 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>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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|
|
<a href="/phenotypicSeries/PS125310" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
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<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/600142" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600142" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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|
|
|
</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 (in some patients) <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> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal blood pressure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2004005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2004005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2712122&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2712122</a>]</span><br /> -
|
|
Small cerebral arteries show arteriosclerotic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838585&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838585</a>]</span><br /> -
|
|
Small cerebral arteries show fibrous intimal proliferation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838586&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838586</a>]</span><br /> -
|
|
Severe hyalinosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838587&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838587</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19010006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19010006</a>]</span><br /> -
|
|
Splitting of the intima and/or internal elastic membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838588</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 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 />
|
|
|
|
</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">
|
|
|
|
- Lumbago <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 /> -
|
|
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 /> -
|
|
Lumbar disc herniation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202708005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202708005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0281899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0281899</a>]</span><br /> -
|
|
Spondylosis deformans <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9631008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9631008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038020&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038020</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Alopecia (occurs before neurologic signs, in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278040002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278040002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56317004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56317004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/704.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</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> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Encephalopathy, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838578</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002448</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81308009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81308009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G93.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G93.40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/348.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">348.30</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/348.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">348.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001298</a>]</span><br /> -
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Dementia <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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Acute stroke <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751956&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751956</a>]</span><br /> -
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Pseudobulbar signs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838579&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838579</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002200" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002200</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002200" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002200</a>]</span><br /> -
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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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Extrapyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43378000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43378000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002071" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002071</a>]</span><br /> -
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Gait disturbance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
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Rigidity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700109</a>, <a href="https://bioportal.bioontology.org/search?q=C0026837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span><br /> -
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Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
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Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
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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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Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
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Diffuse white matter abnormalities seen on brain imaging <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232577&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007204</a>]</span><br /> -
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Subcortical focal lacunae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838581</a>]</span><br /> -
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Neuropathology shows diffuse demyelination of the cerebral white matter <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838582&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838582</a>]</span><br /> -
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Preservation of U fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838583</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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- Onset in teens to late twenties (range 14 to 44 years)<br /> -
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Rapidly progressive course<br /> -
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Increased male to female ratio (7.5:1)<br />
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<strong> MOLECULAR BASIS </strong>
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<span class="mim-font">
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- Caused by mutation in the HTRA serine peptidase 1 gene (HTRA1, <a href="/entry/602194#0002">602194.0002</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<h5>
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Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
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- <a href="/phenotypicSeries/PS125310">PS125310</a>
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- 3 Entries
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</h5>
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<strong>Location</strong>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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</tr>
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</thead>
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<tbody>
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<span class="mim-font">
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<a href="/geneMap/10/624?start=-3&limit=10&highlight=624"> 10q26.13 </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/616779"> Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/616779"> 616779 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/602194"> HTRA1 </a>
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<span class="mim-font">
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<a href="/entry/602194"> 602194 </a>
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<span class="mim-font">
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<a href="/geneMap/10/624?start=-3&limit=10&highlight=624"> 10q26.13 </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/600142"> CARASIL syndrome </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600142"> 600142 </a>
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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/602194"> HTRA1 </a>
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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/602194"> 602194 </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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<span class="mim-font">
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<a href="/geneMap/19/392?start=-3&limit=10&highlight=392"> 19p13.12 </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/125310"> Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/125310"> 125310 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/600276"> NOTCH3 </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/600276"> 600276 </a>
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</span>
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</td>
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</tbody>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is caused by homozygous or compound heterozygous mutation in the HTRA1 gene (<a href="/entry/602194">602194</a>) on chromosome 10q26.</p>
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<div>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive cerebral small vessel arteriopathy characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade (summary by <a href="#5" class="mim-tip-reference" title="Hara, K., Shiga, A., Fukutake, T., Nozaki, H., Miyashita, A., Yokoseki, A., Kawata, H., Koyama, A., Arima, K., Takahashi, T., Ikeda, M., Shiota, H., and 15 others. <strong>Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.</strong> New Eng. J. Med. 360: 1729-1739, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19387015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19387015</a>] [<a href="https://doi.org/10.1056/NEJMoa0801560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19387015">Hara et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19387015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
|
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</h4>
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<p><a href="#7" class="mim-tip-reference" title="Maeda, S., Nakayama, H., Isaka, K., Aihara, Y., Nemoto, S. <strong>Familial unusual encephalopathy of Binswanger's type without hypertension.</strong> Folia Psychiat. Neurol. Jpn. 30: 165-177, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/971885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">971885</a>] [<a href="https://doi.org/10.1111/j.1440-1819.1976.tb00119.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="971885">Maeda et al. (1976)</a> reported 2 Japanese brothers, born of consanguineous parents, with young adult-onset progressive encephalopathy characterized by extrapyramidal features and dementia. Clinical features included generalized rigidity, spastic ataxia, hyperreflexia, extensor plantar responses, pseudobulbar symptoms, and dementia. The encephalopathy resembled Binswanger encephalopathy, but blood pressure was normal. Both brothers had alopecia, and 1 brother had back pain with lumbar disc herniation. Onset was in the third decade and death occurred within 10 years after a rapidly progressive course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=971885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Fukutake, T., Hattori, T., Kita, K., Hirayama, K. <strong>Familial juvenile encephalopathy (Binswanger type) with alopecia and lumbago--a syndrome.</strong> Clin. Neurol. 25: 949-955, 1985. Note: Article in Japanese.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2933202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2933202</a>]" pmid="2933202">Fukutake et al. (1985)</a> reported 3 affected brothers and proposed that the syndrome comprised encephalopathy, alopecia, and lumbago. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2933202" 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="#9" class="mim-tip-reference" title="Yamamura, T., Nishimura, M., Shirabe, T., Fujita, M. <strong>Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans: a clinicopathological study and review of the literature.</strong> J. Neurol. Sci. 78: 175-188, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3572455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3572455</a>] [<a href="https://doi.org/10.1016/0022-510x(87)90059-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3572455">Yamamura et al. (1987)</a> described progressive subcortical vascular encephalopathy without hypertension or other known causes of vasculopathy in a 30-year-old Japanese man who was born of consanguineous parents. They reviewed the literature and found similar cases with onset at ages 25 to 30. Affected individuals had a diffuse alopecia since youth and spondylitis deformans with early onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3572455" 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="#4" class="mim-tip-reference" title="Fukutake, T., Hirayama, K. <strong>Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension.</strong> Europ. Neurol. 35: 69-79, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7796840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7796840</a>] [<a href="https://doi.org/10.1159/000117096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7796840">Fukutake and Hirayama (1995)</a> stated that 17 patients with CARASIL had been reported; all were Japanese. Age at onset of encephalopathy ranged from 20 to 44 years, with the majority in the late twenties. Alopecia developed prior to neurologic symptoms in most cases. The male to female ratio was 7.5:1. The inheritance pattern was autosomal recessive. Common clinical features included progressive dementia, pseudobulbar palsy, pyramidal signs, spondylosis deformans, and acute lumbago with lumbar disc herniation. About half of the patients experienced acute strokes. Less common features included muscle rigidity, ataxia, brainstem signs, and ophthalmoplegia. Six of 7 deceased patients had died within 10 years of onset. None of the patients had chronic arterial hypertension or significant vascular risk factors. Brain imaging showed diffuse white matter abnormalities with small foci of lacunae similar to that observed in classic Binswanger encephalopathy. Findings compatible with arteriosclerosis were observed in 6 of 12 patients who underwent cerebral angiography. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7796840" 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="Yanagawa, S., Ito, N., Arima, K., Ikeda, S. <strong>Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.</strong> Neurology 58: 817-820, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11889251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11889251</a>] [<a href="https://doi.org/10.1212/wnl.58.5.817" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11889251">Yanagawa et al. (2002)</a> reported 2 affected sisters of first-cousin parents. The older sister presented at age 40 with a 6-year history of knee pain and unsteady gait, with progression to unilateral hemiparesis, dysarthria, emotional instability, and urinary incontinence, and death at age 51. The younger sister presented at age 38 with sudden-onset diplopia and right hemiparesis. She reported knee and lower back pain since her teens. Brain imaging showed diffuse cerebral white matter lesions, and spine radiography showed severe spondylitis deformans with osteoporosis. She required the use of a wheelchair at age 48. Neither patient had alopecia. <a href="#10" class="mim-tip-reference" title="Yanagawa, S., Ito, N., Arima, K., Ikeda, S. <strong>Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.</strong> Neurology 58: 817-820, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11889251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11889251</a>] [<a href="https://doi.org/10.1212/wnl.58.5.817" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11889251">Yanagawa et al. (2002)</a> emphasized that CARASIL is a hereditary cerebrovascular disease with accompanying extracranial symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11889251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Hara, K., Shiga, A., Fukutake, T., Nozaki, H., Miyashita, A., Yokoseki, A., Kawata, H., Koyama, A., Arima, K., Takahashi, T., Ikeda, M., Shiota, H., and 15 others. <strong>Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.</strong> New Eng. J. Med. 360: 1729-1739, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19387015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19387015</a>] [<a href="https://doi.org/10.1056/NEJMoa0801560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19387015">Hara et al. (2009)</a> reported 6 consanguineous Japanese families with classic CARASIL. Onset of initial symptoms was in the second of life (range, 14 to 18 years), and the most common initial feature was alopecia. Other features included spondylosis, progressive dementia, gait disturbance with pyramidal signs, and white matter changes on brain MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19387015" 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="Mendioroz, M., Fernandez-Cadenas, I., Del Rio-Espinola, A., Rovira, A., Sole, E., Fernandez-Figueras, M. T., Garcia-Patos, V., Sastre-Garriga, J., Domingues-Montanari, S., Alvarez-Sabin, J., Montaner, J. <strong>A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.</strong> Neurology 75: 2033-2035, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21115960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21115960</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181ff96ac" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21115960">Mendioroz et al. (2010)</a> reported a Caucasian man of Spanish descent who presented at age 34 years with unsteady gait, urinary urgency, and slurred speech, and had alopecia since before age 18 years. Physical examination showed dysarthria, dysphagia, emotional instability, spastic gait, and extensor plantar responses. The disorder was progressive, and he developed cognitive impairment with dysexecutive syndrome, pseudobulbar syndrome, and tetraparesis. Brain MRI showed a diffuse leukoencephalopathy involving periventricular and deep white matter, including anterior temporal lobes and external capsules, as well as multiple microbleeds and multiple lacunar infarcts throughout the brain. In addition, there were multilevel degenerative changes in the cervical spinal cord. Genetic analysis identified a homozygous mutation in the HTRA1 gene (G295R; <a href="/entry/602194#0006">602194.0006</a>). The patient's mother, who was heterozygous for the mutation, had nonhypertensive leukoencephalopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21115960" 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="#1" class="mim-tip-reference" title="Bianchi, S., Di Palma, C., Gallus, G. N., Taglia, I., Poggiani, A., Rosini, F., Rufa, A., Muresanu, D. F., Cerase, A., Dotti, M. T., Federico, A. <strong>Two novel HTRA1 mutations in a European CARASIL patient.</strong> Neurology 82: 898-900, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24500651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24500651</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24500651">Bianchi et al. (2014)</a> reported a 29-year-old Romanian woman with CARASIL. She had chronic lumbar and cervical pain since age 14, and 2 ischemic strokes in her twenties resulted in hemiparesis and dysarthria. Physical examination showed ataxia, gaze-evoked nystagmus, dysmetria, and hypoactive reflexes. Cognition was normal, and she did not have alopecia. Brain imaging showed severe diffuse leukoencephalopathy, including subcortical infarcts and evidence of microbleeds. Brain imaging of her parents showed mild supratentorial leukoencephalopathy in her father and diffuse infra- and supratentorial leukoencephalopathy in her mother; however, both parents were neurologically normal. These findings suggested that the carrier condition may be paucisymptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24500651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Neuropathologic Features</em></strong></p><p>
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Neuropathologic examination of the patients reported by <a href="#7" class="mim-tip-reference" title="Maeda, S., Nakayama, H., Isaka, K., Aihara, Y., Nemoto, S. <strong>Familial unusual encephalopathy of Binswanger's type without hypertension.</strong> Folia Psychiat. Neurol. Jpn. 30: 165-177, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/971885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">971885</a>] [<a href="https://doi.org/10.1111/j.1440-1819.1976.tb00119.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="971885">Maeda et al. (1976)</a> showed diffuse and focal demyelination with sparing of U fibers and severe arteriosclerotic changes of meningeal arteries and 100- to 400-micron diameter arteries in the cerebral white matter. There was fibrous intimal proliferation, severe hyalinosis, and splitting of the intima and/or the internal elastic membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=971885" 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="Yokoi, S., Nakayama, H. <strong>Chronic progressive leukoencephalopathy with systemic arteriosclerosis in young adults.</strong> Clin. Neuropath. 4: 165-173, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4053457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4053457</a>]" pmid="4053457">Yokoi and Nakayama (1985)</a> performed autopsies on 4 individuals with this syndrome, demonstrating arteriosclerosis in the small arteries of the heart, spleen, kidneys, and brain. There was diffuse demyelination of the cerebral white matter with some preservation of U fibers and small cystic foci in the white matter and the basal ganglia. The degeneration of the white matter was caused by arteriosclerotic changes of the small arteries: fibrous intimal proliferation and hyaline degeneration with splitting of the internal elastic membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4053457" 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="Yanagawa, S., Ito, N., Arima, K., Ikeda, S. <strong>Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.</strong> Neurology 58: 817-820, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11889251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11889251</a>] [<a href="https://doi.org/10.1212/wnl.58.5.817" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11889251">Yanagawa et al. (2002)</a> reported postmortem findings in a patient with CARASIL. There were prominent arteriosclerotic changes in the small arteries of the white matter and basal ganglia, with fibrous intimal proliferation, hyaline degeneration, splitting of the internal elastic lamina, and a concentrically narrowed lumen. There was no evidence of neurodegenerative disease. No serious vascular changes were observed in the heart or kidney, and no sclerotic changes were seen in quadriceps muscle biopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11889251" 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 CARASIL in the families reported by <a href="#5" class="mim-tip-reference" title="Hara, K., Shiga, A., Fukutake, T., Nozaki, H., Miyashita, A., Yokoseki, A., Kawata, H., Koyama, A., Arima, K., Takahashi, T., Ikeda, M., Shiota, H., and 15 others. <strong>Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.</strong> New Eng. J. Med. 360: 1729-1739, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19387015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19387015</a>] [<a href="https://doi.org/10.1056/NEJMoa0801560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19387015">Hara et al. (2009)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19387015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage analysis and fine mapping, followed by candidate gene sequencing, in 6 consanguineous Japanese families with CARASIL, <a href="#5" class="mim-tip-reference" title="Hara, K., Shiga, A., Fukutake, T., Nozaki, H., Miyashita, A., Yokoseki, A., Kawata, H., Koyama, A., Arima, K., Takahashi, T., Ikeda, M., Shiota, H., and 15 others. <strong>Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.</strong> New Eng. J. Med. 360: 1729-1739, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19387015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19387015</a>] [<a href="https://doi.org/10.1056/NEJMoa0801560" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19387015">Hara et al. (2009)</a> identified 45 different homozygous mutations in the HTRA1 gene (see, e.g., <a href="/entry/602194#0002">602194.0002</a>-<a href="/entry/602194#0005">602194.0005</a>) on chromosome 10q25. The mutant proteins were unable to suppress TGF-beta (TGFB1; <a href="/entry/190180">190180</a>) activity, and increased expression TGFB1 was observed in the tunica media of affected small arteries. These findings indicated that CARASIL is a disease associated with dysregulation of TGF-beta signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19387015" 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 a 29-year-old Romanian woman with CARASIL, <a href="#1" class="mim-tip-reference" title="Bianchi, S., Di Palma, C., Gallus, G. N., Taglia, I., Poggiani, A., Rosini, F., Rufa, A., Muresanu, D. F., Cerase, A., Dotti, M. T., Federico, A. <strong>Two novel HTRA1 mutations in a European CARASIL patient.</strong> Neurology 82: 898-900, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24500651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24500651</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24500651">Bianchi et al. (2014)</a> identified compound heterozygous mutations in the HTRA1 gene (<a href="/entry/602194#0007">602194.0007</a> and <a href="/entry/602194#0008">602194.0008</a>). Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24500651" 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="#2" class="mim-tip-reference" title="Bowler, J. V., Hachinski, V. <strong>Progress in the genetics of cerebrovascular disease: inherited subcortical arteriopathies.</strong> Stroke 25: 1696-1698, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8042224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8042224</a>] [<a href="https://doi.org/10.1161/01.str.25.8.1696" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8042224">Bowler and Hachinski (1994)</a> noted the similarity of this disorder to CADASIL (<a href="/entry/125310">125310</a>), autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, and proposed that the disorder be called CARASIL for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8042224" 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="#6" class="mim-tip-reference" title="Kato, T., Manabe, R. I., Igarashi, H., Kametani, F., Hirokawa, S., Sekine, Y., Fujita, N., Saito, S., Kawashima, Y., Hatano, Y., Ando, S., Nozaki, H., and 18 others. <strong>Candesartan prevents arteriopathy progression in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy model.</strong> J. Clin. Invest. 131: e140555, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34779414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34779414</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34779414[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/10.1172/JCI140555" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34779414">Kato et al. (2021)</a> found that Htra1 -/- mice had normal blood pressure, blood glucose levels, and vascular density in brain parenchyma, with no motor deficits, white matter lesions, or ischemic lesions. However, Htra1 -/- mice exhibited accumulation of matrisome proteins, which are components of the extracellular matrix, in pial arteries and arterioles, recapitulating features of patients with CARASIL. Administration of candesartan, an angiotensin II type-1 receptor (AGTR1; <a href="/entry/106165">106165</a>) inhibitor, ameliorated accumulation of matrisome proteins and prevented vascular remodeling and decreased cerebral blood flow in Htra1 -/- mice, but it failed to prevent alterations in smooth muscle cells and pericytes. Furthermore, RNA-sequencing analysis showed that candesartan reduced expression of Fn1 (<a href="/entry/135600">135600</a>), Ltbp4 (<a href="/entry/604710">604710</a>), and Adamtsl2 (<a href="/entry/612277">612277</a>), which are involved in forming the extracellular matrix network. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34779414" 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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Bianchi, S., Di Palma, C., Gallus, G. N., Taglia, I., Poggiani, A., Rosini, F., Rufa, A., Muresanu, D. F., Cerase, A., Dotti, M. T., Federico, A.
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<strong>Two novel HTRA1 mutations in a European CARASIL patient.</strong>
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Neurology 82: 898-900, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24500651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24500651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24500651" 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.0000000000000202" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Bowler1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bowler, J. V., Hachinski, V.
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<strong>Progress in the genetics of cerebrovascular disease: inherited subcortical arteriopathies.</strong>
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Stroke 25: 1696-1698, 1994.
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[<a href="https://doi.org/10.1161/01.str.25.8.1696" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Fukutake1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fukutake, T., Hattori, T., Kita, K., Hirayama, K.
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<strong>Familial juvenile encephalopathy (Binswanger type) with alopecia and lumbago--a syndrome.</strong>
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Clin. Neurol. 25: 949-955, 1985. Note: Article in Japanese.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2933202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2933202</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2933202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Fukutake1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fukutake, T., Hirayama, K.
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<strong>Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension.</strong>
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Europ. Neurol. 35: 69-79, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7796840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7796840</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7796840" 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/10.1159/000117096" target="_blank">Full Text</a>]
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<a id="Hara2009" class="mim-anchor"></a>
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Hara, K., Shiga, A., Fukutake, T., Nozaki, H., Miyashita, A., Yokoseki, A., Kawata, H., Koyama, A., Arima, K., Takahashi, T., Ikeda, M., Shiota, H., and 15 others.
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<strong>Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.</strong>
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New Eng. J. Med. 360: 1729-1739, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19387015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19387015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19387015" 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/10.1056/NEJMoa0801560" target="_blank">Full Text</a>]
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<a id="Kato2021" class="mim-anchor"></a>
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Kato, T., Manabe, R. I., Igarashi, H., Kametani, F., Hirokawa, S., Sekine, Y., Fujita, N., Saito, S., Kawashima, Y., Hatano, Y., Ando, S., Nozaki, H., and 18 others.
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<strong>Candesartan prevents arteriopathy progression in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy model.</strong>
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J. Clin. Invest. 131: e140555, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34779414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34779414</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34779414[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=34779414" 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/10.1172/JCI140555" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Maeda1976" class="mim-anchor"></a>
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<p class="mim-text-font">
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Maeda, S., Nakayama, H., Isaka, K., Aihara, Y., Nemoto, S.
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<strong>Familial unusual encephalopathy of Binswanger's type without hypertension.</strong>
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Folia Psychiat. Neurol. Jpn. 30: 165-177, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/971885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">971885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=971885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1440-1819.1976.tb00119.x" target="_blank">Full Text</a>]
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<a id="Mendioroz2010" class="mim-anchor"></a>
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Mendioroz, M., Fernandez-Cadenas, I., Del Rio-Espinola, A., Rovira, A., Sole, E., Fernandez-Figueras, M. T., Garcia-Patos, V., Sastre-Garriga, J., Domingues-Montanari, S., Alvarez-Sabin, J., Montaner, J.
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<strong>A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.</strong>
|
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Neurology 75: 2033-2035, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21115960/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21115960</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21115960" 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.0b013e3181ff96ac" target="_blank">Full Text</a>]
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<a id="Yamamura1987" class="mim-anchor"></a>
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Yamamura, T., Nishimura, M., Shirabe, T., Fujita, M.
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<strong>Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans: a clinicopathological study and review of the literature.</strong>
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J. Neurol. Sci. 78: 175-188, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3572455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3572455</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3572455" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(87)90059-1" target="_blank">Full Text</a>]
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<a id="Yanagawa2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yanagawa, S., Ito, N., Arima, K., Ikeda, S.
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<strong>Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.</strong>
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Neurology 58: 817-820, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11889251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11889251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11889251" 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.58.5.817" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Yokoi1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yokoi, S., Nakayama, H.
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<strong>Chronic progressive leukoencephalopathy with systemic arteriosclerosis in young adults.</strong>
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Clin. Neuropath. 4: 165-173, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4053457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4053457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4053457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 08/31/2022
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/12/2015<br>Cassandra L. Kniffin - updated : 2/15/2011<br>Cassandra L. Kniffin - updated : 4/24/2009<br>Cassandra L. Kniffin - reorganized : 5/4/2006<br>Cassandra L. Kniffin - updated : 5/1/2006<br>Cassandra L. Kniffin - updated : 6/26/2002
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/7/1994
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mgross : 08/31/2022
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<span class="mim-text-font">
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alopez : 03/02/2022<br>alopez : 06/30/2021<br>carol : 02/18/2015<br>carol : 2/17/2015<br>mcolton : 2/16/2015<br>ckniffin : 2/12/2015<br>terry : 3/10/2011<br>wwang : 3/9/2011<br>ckniffin : 2/15/2011<br>wwang : 5/12/2009<br>ckniffin : 4/24/2009<br>terry : 6/6/2008<br>carol : 5/10/2006<br>ckniffin : 5/4/2006<br>carol : 5/4/2006<br>ckniffin : 5/1/2006<br>carol : 8/29/2005<br>carol : 6/27/2002<br>ckniffin : 6/26/2002<br>alopez : 6/10/1997<br>mimadm : 9/23/1995<br>carol : 10/12/1994<br>carol : 10/7/1994
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<span class="mim-font">
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<strong>#</strong> 600142
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<h3>
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<span class="mim-font">
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CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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MAEDA SYNDROME<br />
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SUBCORTICAL VASCULAR ENCEPHALOPATHY, PROGRESSIVE<br />
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CEREBROVASCULAR DISEASE WITH THIN SKIN, ALOPECIA, AND DISC DISEASE
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<strong>SNOMEDCT:</strong> 703219008;
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<strong>ORPHA:</strong> 199354;
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<strong>DO:</strong> 13945;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<td>
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<span class="mim-font">
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10q26.13
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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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CARASIL syndrome
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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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600142
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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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Autosomal recessive
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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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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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HTRA1
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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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602194
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</span>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is caused by homozygous or compound heterozygous mutation in the HTRA1 gene (602194) on chromosome 10q26.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive cerebral small vessel arteriopathy characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade (summary by Hara et al., 2009). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Maeda et al. (1976) reported 2 Japanese brothers, born of consanguineous parents, with young adult-onset progressive encephalopathy characterized by extrapyramidal features and dementia. Clinical features included generalized rigidity, spastic ataxia, hyperreflexia, extensor plantar responses, pseudobulbar symptoms, and dementia. The encephalopathy resembled Binswanger encephalopathy, but blood pressure was normal. Both brothers had alopecia, and 1 brother had back pain with lumbar disc herniation. Onset was in the third decade and death occurred within 10 years after a rapidly progressive course. </p><p>Fukutake et al. (1985) reported 3 affected brothers and proposed that the syndrome comprised encephalopathy, alopecia, and lumbago. </p><p>Yamamura et al. (1987) described progressive subcortical vascular encephalopathy without hypertension or other known causes of vasculopathy in a 30-year-old Japanese man who was born of consanguineous parents. They reviewed the literature and found similar cases with onset at ages 25 to 30. Affected individuals had a diffuse alopecia since youth and spondylitis deformans with early onset. </p><p>Fukutake and Hirayama (1995) stated that 17 patients with CARASIL had been reported; all were Japanese. Age at onset of encephalopathy ranged from 20 to 44 years, with the majority in the late twenties. Alopecia developed prior to neurologic symptoms in most cases. The male to female ratio was 7.5:1. The inheritance pattern was autosomal recessive. Common clinical features included progressive dementia, pseudobulbar palsy, pyramidal signs, spondylosis deformans, and acute lumbago with lumbar disc herniation. About half of the patients experienced acute strokes. Less common features included muscle rigidity, ataxia, brainstem signs, and ophthalmoplegia. Six of 7 deceased patients had died within 10 years of onset. None of the patients had chronic arterial hypertension or significant vascular risk factors. Brain imaging showed diffuse white matter abnormalities with small foci of lacunae similar to that observed in classic Binswanger encephalopathy. Findings compatible with arteriosclerosis were observed in 6 of 12 patients who underwent cerebral angiography. </p><p>Yanagawa et al. (2002) reported 2 affected sisters of first-cousin parents. The older sister presented at age 40 with a 6-year history of knee pain and unsteady gait, with progression to unilateral hemiparesis, dysarthria, emotional instability, and urinary incontinence, and death at age 51. The younger sister presented at age 38 with sudden-onset diplopia and right hemiparesis. She reported knee and lower back pain since her teens. Brain imaging showed diffuse cerebral white matter lesions, and spine radiography showed severe spondylitis deformans with osteoporosis. She required the use of a wheelchair at age 48. Neither patient had alopecia. Yanagawa et al. (2002) emphasized that CARASIL is a hereditary cerebrovascular disease with accompanying extracranial symptoms. </p><p>Hara et al. (2009) reported 6 consanguineous Japanese families with classic CARASIL. Onset of initial symptoms was in the second of life (range, 14 to 18 years), and the most common initial feature was alopecia. Other features included spondylosis, progressive dementia, gait disturbance with pyramidal signs, and white matter changes on brain MRI. </p><p>Mendioroz et al. (2010) reported a Caucasian man of Spanish descent who presented at age 34 years with unsteady gait, urinary urgency, and slurred speech, and had alopecia since before age 18 years. Physical examination showed dysarthria, dysphagia, emotional instability, spastic gait, and extensor plantar responses. The disorder was progressive, and he developed cognitive impairment with dysexecutive syndrome, pseudobulbar syndrome, and tetraparesis. Brain MRI showed a diffuse leukoencephalopathy involving periventricular and deep white matter, including anterior temporal lobes and external capsules, as well as multiple microbleeds and multiple lacunar infarcts throughout the brain. In addition, there were multilevel degenerative changes in the cervical spinal cord. Genetic analysis identified a homozygous mutation in the HTRA1 gene (G295R; 602194.0006). The patient's mother, who was heterozygous for the mutation, had nonhypertensive leukoencephalopathy. </p><p>Bianchi et al. (2014) reported a 29-year-old Romanian woman with CARASIL. She had chronic lumbar and cervical pain since age 14, and 2 ischemic strokes in her twenties resulted in hemiparesis and dysarthria. Physical examination showed ataxia, gaze-evoked nystagmus, dysmetria, and hypoactive reflexes. Cognition was normal, and she did not have alopecia. Brain imaging showed severe diffuse leukoencephalopathy, including subcortical infarcts and evidence of microbleeds. Brain imaging of her parents showed mild supratentorial leukoencephalopathy in her father and diffuse infra- and supratentorial leukoencephalopathy in her mother; however, both parents were neurologically normal. These findings suggested that the carrier condition may be paucisymptomatic. </p><p><strong><em>Neuropathologic Features</em></strong></p><p>
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Neuropathologic examination of the patients reported by Maeda et al. (1976) showed diffuse and focal demyelination with sparing of U fibers and severe arteriosclerotic changes of meningeal arteries and 100- to 400-micron diameter arteries in the cerebral white matter. There was fibrous intimal proliferation, severe hyalinosis, and splitting of the intima and/or the internal elastic membrane. </p><p>Yokoi and Nakayama (1985) performed autopsies on 4 individuals with this syndrome, demonstrating arteriosclerosis in the small arteries of the heart, spleen, kidneys, and brain. There was diffuse demyelination of the cerebral white matter with some preservation of U fibers and small cystic foci in the white matter and the basal ganglia. The degeneration of the white matter was caused by arteriosclerotic changes of the small arteries: fibrous intimal proliferation and hyaline degeneration with splitting of the internal elastic membrane. </p><p>Yanagawa et al. (2002) reported postmortem findings in a patient with CARASIL. There were prominent arteriosclerotic changes in the small arteries of the white matter and basal ganglia, with fibrous intimal proliferation, hyaline degeneration, splitting of the internal elastic lamina, and a concentrically narrowed lumen. There was no evidence of neurodegenerative disease. No serious vascular changes were observed in the heart or kidney, and no sclerotic changes were seen in quadriceps muscle biopsy. </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>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of CARASIL in the families reported by Hara et al. (2009) was consistent with autosomal recessive inheritance. </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>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By linkage analysis and fine mapping, followed by candidate gene sequencing, in 6 consanguineous Japanese families with CARASIL, Hara et al. (2009) identified 45 different homozygous mutations in the HTRA1 gene (see, e.g., 602194.0002-602194.0005) on chromosome 10q25. The mutant proteins were unable to suppress TGF-beta (TGFB1; 190180) activity, and increased expression TGFB1 was observed in the tunica media of affected small arteries. These findings indicated that CARASIL is a disease associated with dysregulation of TGF-beta signaling. </p><p>In a 29-year-old Romanian woman with CARASIL, Bianchi et al. (2014) identified compound heterozygous mutations in the HTRA1 gene (602194.0007 and 602194.0008). Functional studies of the variants were not performed. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Bowler and Hachinski (1994) noted the similarity of this disorder to CADASIL (125310), autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, and proposed that the disorder be called CARASIL for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. </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>Animal Model</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>Kato et al. (2021) found that Htra1 -/- mice had normal blood pressure, blood glucose levels, and vascular density in brain parenchyma, with no motor deficits, white matter lesions, or ischemic lesions. However, Htra1 -/- mice exhibited accumulation of matrisome proteins, which are components of the extracellular matrix, in pial arteries and arterioles, recapitulating features of patients with CARASIL. Administration of candesartan, an angiotensin II type-1 receptor (AGTR1; 106165) inhibitor, ameliorated accumulation of matrisome proteins and prevented vascular remodeling and decreased cerebral blood flow in Htra1 -/- mice, but it failed to prevent alterations in smooth muscle cells and pericytes. Furthermore, RNA-sequencing analysis showed that candesartan reduced expression of Fn1 (135600), Ltbp4 (604710), and Adamtsl2 (612277), which are involved in forming the extracellular matrix network. </p>
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</span>
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<div>
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</div>
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</div>
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<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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Bianchi, S., Di Palma, C., Gallus, G. N., Taglia, I., Poggiani, A., Rosini, F., Rufa, A., Muresanu, D. F., Cerase, A., Dotti, M. T., Federico, A.
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<strong>Two novel HTRA1 mutations in a European CARASIL patient.</strong>
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Neurology 82: 898-900, 2014.
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[PubMed: 24500651]
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[Full Text: https://doi.org/10.1212/WNL.0000000000000202]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bowler, J. V., Hachinski, V.
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<strong>Progress in the genetics of cerebrovascular disease: inherited subcortical arteriopathies.</strong>
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Stroke 25: 1696-1698, 1994.
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[PubMed: 8042224]
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[Full Text: https://doi.org/10.1161/01.str.25.8.1696]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fukutake, T., Hattori, T., Kita, K., Hirayama, K.
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<strong>Familial juvenile encephalopathy (Binswanger type) with alopecia and lumbago--a syndrome.</strong>
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Clin. Neurol. 25: 949-955, 1985. Note: Article in Japanese.
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[PubMed: 2933202]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fukutake, T., Hirayama, K.
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<strong>Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension.</strong>
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Europ. Neurol. 35: 69-79, 1995.
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[PubMed: 7796840]
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[Full Text: https://doi.org/10.1159/000117096]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hara, K., Shiga, A., Fukutake, T., Nozaki, H., Miyashita, A., Yokoseki, A., Kawata, H., Koyama, A., Arima, K., Takahashi, T., Ikeda, M., Shiota, H., and 15 others.
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<strong>Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.</strong>
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New Eng. J. Med. 360: 1729-1739, 2009.
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[PubMed: 19387015]
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[Full Text: https://doi.org/10.1056/NEJMoa0801560]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kato, T., Manabe, R. I., Igarashi, H., Kametani, F., Hirokawa, S., Sekine, Y., Fujita, N., Saito, S., Kawashima, Y., Hatano, Y., Ando, S., Nozaki, H., and 18 others.
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<strong>Candesartan prevents arteriopathy progression in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy model.</strong>
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J. Clin. Invest. 131: e140555, 2021.
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[PubMed: 34779414]
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[Full Text: https://doi.org/10.1172/JCI140555]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Maeda, S., Nakayama, H., Isaka, K., Aihara, Y., Nemoto, S.
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<strong>Familial unusual encephalopathy of Binswanger's type without hypertension.</strong>
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Folia Psychiat. Neurol. Jpn. 30: 165-177, 1976.
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[PubMed: 971885]
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[Full Text: https://doi.org/10.1111/j.1440-1819.1976.tb00119.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mendioroz, M., Fernandez-Cadenas, I., Del Rio-Espinola, A., Rovira, A., Sole, E., Fernandez-Figueras, M. T., Garcia-Patos, V., Sastre-Garriga, J., Domingues-Montanari, S., Alvarez-Sabin, J., Montaner, J.
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<strong>A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.</strong>
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Neurology 75: 2033-2035, 2010.
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[PubMed: 21115960]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181ff96ac]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yamamura, T., Nishimura, M., Shirabe, T., Fujita, M.
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<strong>Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans: a clinicopathological study and review of the literature.</strong>
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J. Neurol. Sci. 78: 175-188, 1987.
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[PubMed: 3572455]
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[Full Text: https://doi.org/10.1016/0022-510x(87)90059-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yanagawa, S., Ito, N., Arima, K., Ikeda, S.
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<strong>Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.</strong>
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Neurology 58: 817-820, 2002.
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[PubMed: 11889251]
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[Full Text: https://doi.org/10.1212/wnl.58.5.817]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yokoi, S., Nakayama, H.
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<strong>Chronic progressive leukoencephalopathy with systemic arteriosclerosis in young adults.</strong>
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Clin. Neuropath. 4: 165-173, 1985.
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[PubMed: 4053457]
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</ol>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 08/31/2022<br>Cassandra L. Kniffin - updated : 2/12/2015<br>Cassandra L. Kniffin - updated : 2/15/2011<br>Cassandra L. Kniffin - updated : 4/24/2009<br>Cassandra L. Kniffin - reorganized : 5/4/2006<br>Cassandra L. Kniffin - updated : 5/1/2006<br>Cassandra L. Kniffin - updated : 6/26/2002
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/7/1994
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<span class="text-nowrap mim-text-font">
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Edit History:
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mgross : 08/31/2022<br>alopez : 03/02/2022<br>alopez : 06/30/2021<br>carol : 02/18/2015<br>carol : 2/17/2015<br>mcolton : 2/16/2015<br>ckniffin : 2/12/2015<br>terry : 3/10/2011<br>wwang : 3/9/2011<br>ckniffin : 2/15/2011<br>wwang : 5/12/2009<br>ckniffin : 4/24/2009<br>terry : 6/6/2008<br>carol : 5/10/2006<br>ckniffin : 5/4/2006<br>carol : 5/4/2006<br>ckniffin : 5/1/2006<br>carol : 8/29/2005<br>carol : 6/27/2002<br>ckniffin : 6/26/2002<br>alopez : 6/10/1997<br>mimadm : 9/23/1995<br>carol : 10/12/1994<br>carol : 10/7/1994
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