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<meta name="keywords" content="C0751587, cadasil, cadasil syndrome, casil, cerebral arteriopathy with subcortical infaracts and leukoencephalopathy, cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, dementia, hereditary multi infarct type, dementia, hereditary multi-infarct type, dementia, hereditary multiinfarct type, disease or syndrome, notch3, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=199687
|
||
ConceptID=C0751587
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy<span class="h1sub">(CADASIL)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199687</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0751587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CADASIL; CASIL; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (390936003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="NOTCH3 - ID: 4854 - NCBI Gene" href="/gene/4854" class="medgenPMinfo">NOTCH3</a> (19p13.12)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/5654">HTRA1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007432" target="_blank">MONDO:0007432</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/125310" target="_blank">125310</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS125310" target="_blank">PS125310</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1500" target="_blank">CADASIL</a></div><div>CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1500#cadasil.Summary" target="NBK1500">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1500#cadasil.Diagnosis" target="NBK1500">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1500#cadasil.Clinical_Characteristics" target="NBK1500">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1500#cadasil.Genetically_Related_Allelic_Diso" target="NBK1500">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1500#cadasil.Differential_Diagnosis" target="NBK1500">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1500#cadasil.Management" target="NBK1500">Management</a> | <a class="medgenPMinfo" href="/books/NBK1500#cadasil.Genetic_Counseling" target="NBK1500">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1500#cadasil.Resources" target="NBK1500">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1500#cadasil.Molecular_Genetics" target="NBK1500">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1500#cadasil.Chapter_Notes" target="NBK1500">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1500#cadasil.References" target="NBK1500">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Remco J Hack | Julie Rutten | Saskia AJ Lesnik Oberstein <a href="/books/NBK1500" target="NBK1500" title="NCBI Bookshelf: CADASIL">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a progressive disorder of the small arterial vessels of the brain manifest by migraine, strokes, and white matter lesions, with resultant cognitive impairment in some patients (review by Kalimo et al., 1999).
|
||
Genetic Heterogeneity of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
|
||
CADASIL2 (616779) is caused by mutation in the HTRA1 gene (602194) on chromosome 10q26. <a target="_blank" href="http://www.omim.org/entry/125310">http://www.omim.org/entry/125310</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751587[DISCUI]&test_type=Clinical" ref="ncbi_uid=199687">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=199687" target="_blank" href="/omim/125310">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1500/" ref="ncbi_uid=199687">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=199687" ref="ncbi_uid=199687">V</a></span></span><span class="TLline">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838577[DISCUI]&test_type=Clinical" ref="ncbi_uid=325051">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325051" target="_blank" href="/omim/600142">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK32533/" ref="ncbi_uid=325051">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325051" ref="ncbi_uid=325051">V</a></span></span><span class="TLline"><a href="/medgen/325051" ref="tree=GTR&ncbi_uid=325051&link_uid=325051" title="View MedGen record for 'CARASIL syndrome'">CARASIL syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551768[DISCUI]&test_type=Clinical" ref="ncbi_uid=1634330">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1634330" target="_blank" href="/omim/125310">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1500/" ref="ncbi_uid=1634330">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1634330" ref="ncbi_uid=1634330">V</a></span></span><span class="TLline"><a href="/medgen/1634330" ref="tree=GTR&ncbi_uid=1634330&link_uid=1634330" title="View MedGen record for 'Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1'">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225211[DISCUI]&test_type=Clinical" ref="ncbi_uid=895965">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=895965" target="_blank" href="/omim/602194">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK32533/" ref="ncbi_uid=895965">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=895965" ref="ncbi_uid=895965">V</a></span></span><span class="TLline"><a href="/medgen/895965" ref="tree=GTR&ncbi_uid=895965&link_uid=895965" title="View MedGen record for 'Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2'">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/3306" ref="tree=MeSH" title="MedGen record for Disorder of the central nervous system">Disorder of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/14214" ref="tree=MeSH" title="MedGen record for Brain disorder">Brain disorder</a></span><ul><li><span class="TLline"><a href="/medgen/858" ref="tree=MeSH" title="MedGen record for Cerebrovascular disorder">Cerebrovascular disorder</a></span><ul><li><span class="TLline"><a href="/medgen/199819" ref="tree=MeSH" title="MedGen record for Intracranial arterial disease">Intracranial arterial disease</a></span><ul><li><span class="TLline"><a href="/medgen/2963" ref="tree=MeSH" title="MedGen record for Cerebral arterial disease">Cerebral arterial disease</a></span><ul><li><span class="matched_ds">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</span><ul><li><span class="TLline"><a href="/medgen/325051" ref="tree=MeSH" title="MedGen record for CARASIL syndrome">CARASIL syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1634330" ref="tree=MeSH" title="MedGen record for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</a></span></li><li><span class="TLline"><a href="/medgen/895965" ref="tree=MeSH" title="MedGen record for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=1001&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36232798">Genotype and Phenotype Differences in CADASIL from an Asian Perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim Y,
|
||
Bae JS,
|
||
Lee JY,
|
||
Song HK,
|
||
Lee JH,
|
||
Lee M,
|
||
Kim C,
|
||
Lee SH</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Sep 29;23(19)
|
||
doi: 10.3390/ijms231911506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36232798" target="_blank">36232798</a><a href="/pmc/articles/PMC9569740" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32196841">Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mancuso M,
|
||
Arnold M,
|
||
Bersano A,
|
||
Burlina A,
|
||
Chabriat H,
|
||
Debette S,
|
||
Enzinger C,
|
||
Federico A,
|
||
Filla A,
|
||
Finsterer J,
|
||
Hunt D,
|
||
Lesnik Oberstein S,
|
||
Tournier-Lasserve E,
|
||
Markus HS</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2020 Jun;27(6):909-927.
|
||
Epub 2020 Mar 20
|
||
doi: 10.1111/ene.14183.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32196841" target="_blank">32196841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25998117">Genetic testing and counseling in the diagnosis and management of young-onset dementias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldman JS</span><br />
|
||
<span class="medgenPMjournal">Psychiatr Clin North Am</span>
|
||
2015 Jun;38(2):295-308.
|
||
Epub 2015 Mar 18
|
||
doi: 10.1016/j.psc.2015.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25998117" target="_blank">25998117</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cerebral%20autosomal%20dominant%20arteriopathy%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (23)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37842780">Massive Microbleeds in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ling C,
|
||
Bai L,
|
||
Guo Y,
|
||
Yuan Y,
|
||
Peng Q</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2023 Dec;54(12):e496-e497.
|
||
Epub 2023 Oct 16
|
||
doi: 10.1161/STROKEAHA.123.045011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37842780" target="_blank">37842780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35862215">Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Hidden by Another Stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoon JY,
|
||
Klein JP</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2022 Sep;53(9):e422-e423.
|
||
Epub 2022 Jul 15
|
||
doi: 10.1161/STROKEAHA.122.039829.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35862215" target="_blank">35862215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
|
||
Amanat M,
|
||
Garshasbi M,
|
||
Kameli R,
|
||
Nilipour Y,
|
||
Heidari M,
|
||
Rezaei Z,
|
||
Tavasoli AR</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2020 Jan;20(1):65-84.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1080/14737175.2020.1699060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30855338">CADASIL: new advances in basic science and clinical perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrante EA,
|
||
Cudrici CD,
|
||
Boehm M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2019 May;26(3):193-198.
|
||
doi: 10.1097/MOH.0000000000000497.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30855338" target="_blank">30855338</a><a href="/pmc/articles/PMC7672534" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28989805">Migraine and stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Parikh A,
|
||
Qian S</span><br />
|
||
<span class="medgenPMjournal">Stroke Vasc Neurol</span>
|
||
2017 Sep;2(3):160-167.
|
||
Epub 2017 May 29
|
||
doi: 10.1136/svn-2017-000077.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28989805" target="_blank">28989805</a><a href="/pmc/articles/PMC5628377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20autosomal%20dominant%20arteriopathy%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (316)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38176524">CADASIL: A NOTCH3-associated cerebral small vessel disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan L,
|
||
Chen X,
|
||
Jankovic J,
|
||
Deng H</span><br />
|
||
<span class="medgenPMjournal">J Adv Res</span>
|
||
2024 Dec;66:223-235.
|
||
Epub 2024 Jan 2
|
||
doi: 10.1016/j.jare.2024.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38176524" target="_blank">38176524</a><a href="/pmc/articles/PMC11674792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
|
||
Amanat M,
|
||
Garshasbi M,
|
||
Kameli R,
|
||
Nilipour Y,
|
||
Heidari M,
|
||
Rezaei Z,
|
||
Tavasoli AR</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2020 Jan;20(1):65-84.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1080/14737175.2020.1699060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30855338">CADASIL: new advances in basic science and clinical perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrante EA,
|
||
Cudrici CD,
|
||
Boehm M</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Hematol</span>
|
||
2019 May;26(3):193-198.
|
||
doi: 10.1097/MOH.0000000000000497.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30855338" target="_blank">30855338</a><a href="/pmc/articles/PMC7672534" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28989805">Migraine and stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Parikh A,
|
||
Qian S</span><br />
|
||
<span class="medgenPMjournal">Stroke Vasc Neurol</span>
|
||
2017 Sep;2(3):160-167.
|
||
Epub 2017 May 29
|
||
doi: 10.1136/svn-2017-000077.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28989805" target="_blank">28989805</a><a href="/pmc/articles/PMC5628377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27618323">White Matter Diseases with Radiologic-Pathologic Correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarbu N,
|
||
Shih RY,
|
||
Jones RV,
|
||
Horkayne-Szakaly I,
|
||
Oleaga L,
|
||
Smirniotopoulos JG</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2016 Sep-Oct;36(5):1426-47.
|
||
doi: 10.1148/rg.2016160031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27618323" target="_blank">27618323</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20autosomal%20dominant%20arteriopathy%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (409)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/40067051">Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu F,
|
||
Xie W,
|
||
Fan M,
|
||
Wang Y,
|
||
Xu S,
|
||
Qiu W,
|
||
Yang T,
|
||
Lv H,
|
||
Huang H,
|
||
Wu Y,
|
||
Fu Y,
|
||
Cai B</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2025 Mar;32(3):e70100.
|
||
doi: 10.1111/ene.70100.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40067051" target="_blank">40067051</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37863608">Effect of blood pressure-lowering agents on microvascular function in people with small vessel diseases (TREAT-SVDs): a multicentre, open-label, randomised, crossover trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kopczak A,
|
||
Stringer MS,
|
||
van den Brink H,
|
||
Kerkhofs D,
|
||
Blair GW,
|
||
van Dinther M,
|
||
Reyes CA,
|
||
Garcia DJ,
|
||
Onkenhout L,
|
||
Wartolowska KA,
|
||
Thrippleton MJ,
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<div class="nl"><a target="_blank" href="/pubmed/32912545">Acute Stroke as the Presenting Symptom of SARS-CoV-2 Infection in a Young Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38176524">CADASIL: A NOTCH3-associated cerebral small vessel disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yuan L,
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<div class="nl"><a target="_blank" href="/pubmed/36625892">Decreased water exchange rate across blood-brain barrier in hereditary cerebral small vessel disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
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Ying Y,
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Yao T,
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Jia X,
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Liang H,
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Tang W,
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Jia X,
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Song H,
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Shao X,
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Wang DJJ,
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Wang C,
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<div class="nl"><a target="_blank" href="/pubmed/28989805">Migraine and stroke.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11389800">Stroke and cognition.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20autosomal%20dominant%20arteriopathy%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (150)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ying Y,
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Li Y,
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Yao T,
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Shao X,
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Tang W,
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Montagne A,
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Chabriat H,
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Wang DJJ,
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Wang C,
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Yang Q,
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Cheng X</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/38787758" target="_blank">38787758</a><a href="/pmc/articles/PMC11247670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/38176524">CADASIL: A NOTCH3-associated cerebral small vessel disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yuan L,
|
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Chen X,
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Jankovic J,
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Deng H</span><br />
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<span class="medgenPMjournal">J Adv Res</span>
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2024 Dec;66:223-235.
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Epub 2024 Jan 2
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doi: 10.1016/j.jare.2024.01.001.
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<span class="bold">PMID: </span><a href="/pubmed/38176524" target="_blank">38176524</a><a href="/pmc/articles/PMC11674792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36625892">Decreased water exchange rate across blood-brain barrier in hereditary cerebral small vessel disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
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Ying Y,
|
||
Yao T,
|
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Jia X,
|
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Liang H,
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Tang W,
|
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Jia X,
|
||
Song H,
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Shao X,
|
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Wang DJJ,
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Wang C,
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Cheng X,
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Yang Q</span><br />
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<span class="medgenPMjournal">Brain</span>
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2023 Jul 3;146(7):3079-3087.
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doi: 10.1093/brain/awac500.
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<span class="bold">PMID: </span><a href="/pubmed/36625892" target="_blank">36625892</a><a href="/pmc/articles/PMC10316759" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32196841">Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mancuso M,
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Arnold M,
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Burlina A,
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Chabriat H,
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Debette S,
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Enzinger C,
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Federico A,
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Filla A,
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Finsterer J,
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Hunt D,
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Lesnik Oberstein S,
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Tournier-Lasserve E,
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Markus HS</span><br />
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<span class="medgenPMjournal">Eur J Neurol</span>
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2020 Jun;27(6):909-927.
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Epub 2020 Mar 20
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<span class="bold">PMID: </span><a href="/pubmed/32196841" target="_blank">32196841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30855338">CADASIL: new advances in basic science and clinical perspectives.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ferrante EA,
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Cudrici CD,
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Boehm M</span><br />
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<span class="medgenPMjournal">Curr Opin Hematol</span>
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2019 May;26(3):193-198.
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<span class="bold">PMID: </span><a href="/pubmed/30855338" target="_blank">30855338</a><a href="/pmc/articles/PMC7672534" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20autosomal%20dominant%20arteriopathy%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (287)</a></div></div>
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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39201482">Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao Y,
|
||
Zhang DD,
|
||
Han F,
|
||
Jiang N,
|
||
Yao M,
|
||
Zhu YC</span><br />
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||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Aug 13;25(16)
|
||
doi: 10.3390/ijms25168796.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39201482" target="_blank">39201482</a><a href="/pmc/articles/PMC11354472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34298974">Contribution of "Omic" Studies to the Understanding of Cadasil. A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muiño E,
|
||
Fernández-Cadenas I,
|
||
Arboix A</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Jul 8;22(14)
|
||
doi: 10.3390/ijms22147357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34298974" target="_blank">34298974</a><a href="/pmc/articles/PMC8304933" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33704781">Cholinesterase inhibitors for vascular dementia and other vascular cognitive impairments: a network meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Battle CE,
|
||
Abdul-Rahim AH,
|
||
Shenkin SD,
|
||
Hewitt J,
|
||
Quinn TJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2021 Feb 22;2(2):CD013306.
|
||
doi: 10.1002/14651858.CD013306.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33704781" target="_blank">33704781</a><a href="/pmc/articles/PMC8407366" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33478738">Intracerebral hemorrhage in CADASIL.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palazzo P,
|
||
Le Guyader G,
|
||
Neau JP</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2021 Apr;177(4):422-430.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1016/j.neurol.2020.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33478738" target="_blank">33478738</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27704594">l-arginine and l-NMMA for assessing cerebral endothelial dysfunction in ischaemic cerebrovascular disease: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karlsson WK,
|
||
Sørensen CG,
|
||
Kruuse C</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Pharmacol Physiol</span>
|
||
2017 Jan;44(1):13-20.
|
||
doi: 10.1111/1440-1681.12679.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27704594" target="_blank">27704594</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20autosomal%20dominant%20arteriopathy%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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|
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||
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</div>
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||
|
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</div>
|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0751587%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751587%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751587%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751587%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0751587%5bDISCUI%5d" target="_blank">See all (12)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS125310" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cerebral%20autosomal%20dominant%20arteriopathy%20with%20subcortical%20infarcts%20and%20leukoencephalopathy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cerebral%20autosomal%20dominant%20arteriopathy%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Cerebral%20autosomal%20dominant%20arteriopathy%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=199687" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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