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<meta name="keywords" content="C4225211, autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2, cadasil 2, cadasil caused by mutation in htra1, cadasil type 2, cadasil2, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, disease or syndrome, htra1, htra1 cadasil, 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="HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no symptoms and others manifest with the more severe CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) phenotype. Those who have a heterozygous HTRA1 pathogenic variant may have mild neurologic findings (sometimes identified only on neuroimaging) or mild-to-moderate neurologic signs and symptoms of CARASIL. In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly following the onset of neurologic symptoms. Scalp alopecia and acute mid- to lower-back pain (lumbago) before age 30 years are characteristic. The most frequent initial symptom in individuals with HTRA1-CSVD is slowly progressive gait disturbance after age 40 years, which may be followed by the development of mood changes and cognitive dysfunction. A majority of affected individuals have a stroke-like episode after age 40 years. Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 (Concept Id: C4225211)
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<!--
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UID=895965
|
||
ConceptID=C4225211
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2<span class="h1sub">(CADASIL2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895965</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."><span class="highlight" style="background-color:">C4225211</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>CADASIL2</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="HTRA1 - ID: 5654 - NCBI Gene" href="/gene/5654" class="medgenPMinfo">HTRA1</a> (10q26.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014768" target="_blank">MONDO:0014768</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616779" target="_blank">616779</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/NBK32533" target="_blank">HTRA1 Disorder</a></div><div>HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no symptoms and others manifest with the more severe CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) phenotype. Those who have a heterozygous HTRA1 pathogenic variant may have mild neurologic findings (sometimes identified only on neuroimaging) or mild-to-moderate neurologic signs and symptoms of CARASIL. In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly following the onset of neurologic symptoms. Scalp alopecia and acute mid- to lower-back pain (lumbago) before age 30 years are characteristic. The most frequent initial symptom in individuals with HTRA1-CSVD is slowly progressive gait disturbance after age 40 years, which may be followed by the development of mood changes and cognitive dysfunction. A majority of affected individuals have a stroke-like episode after age 40 years. Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD. [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/NBK32533#carasil.Summary" target="NBK32533">Summary</a> | <a class="medgenPMinfo" href="/books/NBK32533#carasil.GeneReview_Scope" target="NBK32533">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK32533#carasil.Diagnosis" target="NBK32533">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK32533#carasil.Clinical_Characteristics" target="NBK32533">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK32533#carasil.Genetically_Related_Allelic_Diso" target="NBK32533">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK32533#carasil.Differential_Diagnosis" target="NBK32533">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK32533#carasil.Management" target="NBK32533">Management</a> | <a class="medgenPMinfo" href="/books/NBK32533#carasil.Genetic_Counseling" target="NBK32533">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK32533#carasil.Resources" target="NBK32533">Resources</a> | <a class="medgenPMinfo" href="/books/NBK32533#carasil.Molecular_Genetics" target="NBK32533">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK32533#carasil.Chapter_Notes" target="NBK32533">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK32533#carasil.References" target="NBK32533">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Osamu Onodera | Hiroaki Nozaki | Toshio Fukutake <a href="/books/NBK32533" target="NBK32533" title="NCBI Bookshelf: HTRA1 Disorder">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 type 2 is a disorder of the small arterial vessels of the brain characterized by stroke, transient ischemic attacks (TIA), cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities and sometimes associated with multiple lacunar infarcts and microbleeds. Dilated perivascular spaces with a typical status cribrosum characterized by innumerable dilated Virchow-Robin spaces and resulting in a cribriform change in basal ganglia occur in most patients. CADASIL2 differs from CADASIL1 (125310) by a later age of onset (Verdura et al., 2015).
|
||
For a discussion of genetic heterogeneity of CADASIL, see 125310. <a target="_blank" href="http://www.omim.org/entry/616779">http://www.omim.org/entry/616779</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_853"><div><strong>Transient ischemic attack</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853</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.">C0007787</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853">Feature record</a> | <a href="/medgen?term=%22Transient%20ischemic%20attack%22%5BClinical%20Features%5D%20OR%20853%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52522"><div><strong>Stroke disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52522</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.">C0038454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52522">Feature record</a> | <a href="/medgen?term=%22Stroke%20disorder%22%5BClinical%20Features%5D%20OR%2052522%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342926"><div><strong>Dilation of Virchow-Robin spaces</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342926</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.">C1853618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342926">Feature record</a> | <a href="/medgen?term=%22Dilation%20of%20Virchow-Robin%20spaces%22%5BClinical%20Features%5D%20OR%20342926%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9149"><div><strong>Headache</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9149</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.">C0018681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9149">Feature record</a> | <a href="/medgen?term=%22Headache%22%5BClinical%20Features%5D%20OR%209149%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</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.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_90932"><div><strong>Cognitive impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90932</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.">C0338656</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90932">Feature record</a> | <a href="/medgen?term=%22Cognitive%20impairment%22%5BClinical%20Features%5D%20OR%2090932%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811125"><div><strong>Hyperintensity of cerebral white matter on MRI</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811125</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.">C2938912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811125">Feature record</a> | <a href="/medgen?term=%22Hyperintensity%20of%20cerebral%20white%20matter%20on%20MRI%22%5BClinical%20Features%5D%20OR%20811125%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_465269"><div><strong>Lacunar stroke</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>465269</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.">C3178801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/465269">Feature record</a> | <a href="/medgen?term=%22Lacunar%20stroke%22%5BClinical%20Features%5D%20OR%20465269%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870472"><div><strong>Recurrent subcortical infarcts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870472</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.">C4024918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870472">Feature record</a> | <a href="/medgen?term=%22Recurrent%20subcortical%20infarcts%22%5BClinical%20Features%5D%20OR%20870472%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_927610"><div><strong>Status cribrosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>927610</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.">C4293701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/927610">Feature record</a> | <a href="/medgen?term=%22Status%20cribrosum%22%5BClinical%20Features%5D%20OR%20927610%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342926" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilation of Virchow-Robin spaces</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stroke disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transient ischemic attack</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90932" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cognitive impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Headache</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperintensity of cerebral white matter on MRI</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_465269" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lacunar stroke</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870472" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent subcortical infarcts</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_927610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Status cribrosum</a></span></li></ul></li></ul></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></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="TLclosed"><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"><a href="/medgen/199687" ref="tree=GTR&ncbi_uid=199687&link_uid=199687" title="View MedGen record for 'Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy'">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</a></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="matched_ds"><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">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2</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/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="TLline"><a href="/medgen/199687" ref="tree=MeSH" title="MedGen record for Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</a></span><ul><li><span class="matched_ds">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></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/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 class="nl"><a target="_blank" href="/pubmed/20224942">Diagnostic criteria for CADASIL in the International Classification of Headache Disorders (ICHD-II): are they appropriate?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sacco S,
|
||
Degan D,
|
||
Carolei A</span><br />
|
||
<span class="medgenPMjournal">J Headache Pain</span>
|
||
2010 Jun;11(3):181-6.
|
||
Epub 2010 Mar 12
|
||
doi: 10.1007/s10194-010-0203-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20224942" target="_blank">20224942</a><a href="/pmc/articles/PMC3451909" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cerebral%20arteriopathy%2C%20autosomal%20dominant%2C%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%2C%20type%202)%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 (3)</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/33109952">HTRA1-related autosomal dominant cerebral small vessel disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu JY,
|
||
Zhu YC,
|
||
Zhou LX,
|
||
Wei YP,
|
||
Mao CH,
|
||
Cui LY,
|
||
Peng B,
|
||
Yao M</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2020 Oct 26;134(2):178-184.
|
||
doi: 10.1097/CM9.0000000000001176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33109952" target="_blank">33109952</a><a href="/pmc/articles/PMC7817319" 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/29807146">Stroke, cerebrovascular diseases and vascular cognitive impairment in Africa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akinyemi RO,
|
||
Owolabi MO,
|
||
Ihara M,
|
||
Damasceno A,
|
||
Ogunniyi A,
|
||
Dotchin C,
|
||
Paddick SM,
|
||
Ogeng'o J,
|
||
Walker R,
|
||
Kalaria RN</span><br />
|
||
<span class="medgenPMjournal">Brain Res Bull</span>
|
||
2019 Feb;145:97-108.
|
||
Epub 2018 May 25
|
||
doi: 10.1016/j.brainresbull.2018.05.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29807146" target="_blank">29807146</a><a href="/pmc/articles/PMC6252289" target="_blank" class="PubMedFree">Free PMC Article</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 class="nl"><a target="_blank" href="/pubmed/17239802">Genetics of ischaemic stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dichgans M</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2007 Feb;6(2):149-61.
|
||
doi: 10.1016/S1474-4422(07)70028-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17239802" target="_blank">17239802</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20arteriopathy%2C%20autosomal%20dominant%2C%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%2C%20type%202%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 (14)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34303089">One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bekircan-Kurt CE,
|
||
Çetinkaya A,
|
||
Gocmen R,
|
||
Koşukcu C,
|
||
Soylemezoglu F,
|
||
Arsava EM,
|
||
Tuncer A,
|
||
Erdem-Ozdamar S,
|
||
Akarsu NA,
|
||
Topcuoglu MA</span><br />
|
||
<span class="medgenPMjournal">J Stroke Cerebrovasc Dis</span>
|
||
2021 Sep;30(9):105997.
|
||
Epub 2021 Jul 21
|
||
doi: 10.1016/j.jstrokecerebrovasdis.2021.105997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34303089" target="_blank">34303089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33109952">HTRA1-related autosomal dominant cerebral small vessel disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu JY,
|
||
Zhu YC,
|
||
Zhou LX,
|
||
Wei YP,
|
||
Mao CH,
|
||
Cui LY,
|
||
Peng B,
|
||
Yao M</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2020 Oct 26;134(2):178-184.
|
||
doi: 10.1097/CM9.0000000000001176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33109952" target="_blank">33109952</a><a href="/pmc/articles/PMC7817319" 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 class="nl"><a target="_blank" href="/pubmed/19455354">Molecular genetics of migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Vries B,
|
||
Frants RR,
|
||
Ferrari MD,
|
||
van den Maagdenberg AM</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2009 Jul;126(1):115-32.
|
||
Epub 2009 May 20
|
||
doi: 10.1007/s00439-009-0684-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19455354" target="_blank">19455354</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20arteriopathy%2C%20autosomal%20dominant%2C%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%2C%20type%202%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 (7)</a></div><h3 class="subhead">Therapy</h3>
|
||
<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 class="nl"><a target="_blank" href="/pubmed/12791811">Cortical hypometabolism and crossed cerebellar diaschisis suggest subcortically induced disconnection in CADASIL: an 18F-FDG PET study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tatsch K,
|
||
Koch W,
|
||
Linke R,
|
||
Poepperl G,
|
||
Peters N,
|
||
Holtmannspoetter M,
|
||
Dichgans M</span><br />
|
||
<span class="medgenPMjournal">J Nucl Med</span>
|
||
2003 Jun;44(6):862-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12791811" target="_blank">12791811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11779891">Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dichgans M,
|
||
Holtmannspötter M,
|
||
Herzog J,
|
||
Peters N,
|
||
Bergmann M,
|
||
Yousry TA</span><br />
|
||
<span class="medgenPMjournal">Stroke</span>
|
||
2002 Jan;33(1):67-71.
|
||
doi: 10.1161/hs0102.100885.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11779891" target="_blank">11779891</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20arteriopathy%2C%20autosomal%20dominant%2C%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%2C%20type%202%22%20AND%20Therapy%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29807146">Stroke, cerebrovascular diseases and vascular cognitive impairment in Africa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akinyemi RO,
|
||
Owolabi MO,
|
||
Ihara M,
|
||
Damasceno A,
|
||
Ogunniyi A,
|
||
Dotchin C,
|
||
Paddick SM,
|
||
Ogeng'o J,
|
||
Walker R,
|
||
Kalaria RN</span><br />
|
||
<span class="medgenPMjournal">Brain Res Bull</span>
|
||
2019 Feb;145:97-108.
|
||
Epub 2018 May 25
|
||
doi: 10.1016/j.brainresbull.2018.05.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29807146" target="_blank">29807146</a><a href="/pmc/articles/PMC6252289" target="_blank" class="PubMedFree">Free PMC Article</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 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 class="nl"><a target="_blank" href="/pubmed/25641254">Do Attachment Style and Emotion Regulation Strategies Indicate Distress in Predictive Testing?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Meer LB,
|
||
van Duijn E,
|
||
Giltay EJ,
|
||
Tibben A</span><br />
|
||
<span class="medgenPMjournal">J Genet Couns</span>
|
||
2015 Oct;24(5):862-71.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1007/s10897-015-9822-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25641254" target="_blank">25641254</a><a href="/pmc/articles/PMC4564439" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17239802">Genetics of ischaemic stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dichgans M</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2007 Feb;6(2):149-61.
|
||
doi: 10.1016/S1474-4422(07)70028-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17239802" target="_blank">17239802</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20arteriopathy%2C%20autosomal%20dominant%2C%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%2C%20type%202%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33109952">HTRA1-related autosomal dominant cerebral small vessel disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu JY,
|
||
Zhu YC,
|
||
Zhou LX,
|
||
Wei YP,
|
||
Mao CH,
|
||
Cui LY,
|
||
Peng B,
|
||
Yao M</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2020 Oct 26;134(2):178-184.
|
||
doi: 10.1097/CM9.0000000000001176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33109952" target="_blank">33109952</a><a href="/pmc/articles/PMC7817319" 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/29807146">Stroke, cerebrovascular diseases and vascular cognitive impairment in Africa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akinyemi RO,
|
||
Owolabi MO,
|
||
Ihara M,
|
||
Damasceno A,
|
||
Ogunniyi A,
|
||
Dotchin C,
|
||
Paddick SM,
|
||
Ogeng'o J,
|
||
Walker R,
|
||
Kalaria RN</span><br />
|
||
<span class="medgenPMjournal">Brain Res Bull</span>
|
||
2019 Feb;145:97-108.
|
||
Epub 2018 May 25
|
||
doi: 10.1016/j.brainresbull.2018.05.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29807146" target="_blank">29807146</a><a href="/pmc/articles/PMC6252289" target="_blank" class="PubMedFree">Free PMC Article</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 class="nl"><a target="_blank" href="/pubmed/17239802">Genetics of ischaemic stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dichgans M</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2007 Feb;6(2):149-61.
|
||
doi: 10.1016/S1474-4422(07)70028-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17239802" target="_blank">17239802</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20arteriopathy%2C%20autosomal%20dominant%2C%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%2C%20type%202%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 (11)</a></div></div>
|
||
</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/34303089">One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bekircan-Kurt CE,
|
||
Çetinkaya A,
|
||
Gocmen R,
|
||
Koşukcu C,
|
||
Soylemezoglu F,
|
||
Arsava EM,
|
||
Tuncer A,
|
||
Erdem-Ozdamar S,
|
||
Akarsu NA,
|
||
Topcuoglu MA</span><br />
|
||
<span class="medgenPMjournal">J Stroke Cerebrovasc Dis</span>
|
||
2021 Sep;30(9):105997.
|
||
Epub 2021 Jul 21
|
||
doi: 10.1016/j.jstrokecerebrovasdis.2021.105997.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34303089" target="_blank">34303089</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%20arteriopathy%2C%20autosomal%20dominant%2C%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%2C%20type%202%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4225211%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225211%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225211%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225211%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616779" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cerebral%20arteriopathy,%20autosomal%20dominant,%20with%20subcortical%20infarcts%20and%20leukoencephalopathy,%20type%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cerebral%20arteriopathy%2C%20autosomal%20dominant%2C%20with%20subcortical%20infarcts%20and%20leukoencephalopathy%2C%20type%202)%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></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602194" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5654[geneid]" target="_blank">View HTRA1 variations in ClinVar</a></li><li><a href="/nuccore/224809567" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=616779" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Cerebral%20arteriopathy,%20autosomal%20dominant,%20with%20subcortical%20infarcts%20and%20leukoencephalopathy,%20type%202" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20437615" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Cerebral%20arteriopathy,%20autosomal%20dominant,%20with%20subcortical%20infarcts%20and%20leukoencephalopathy,%20type%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Cerebral%20arteriopathy,%20autosomal%20dominant,%20with%20subcortical%20infarcts%20and%20leukoencephalopathy,%20type%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=895965" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=895965" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4225211[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4225211[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=895965" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=895965" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=895965" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=895965" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=895965" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=895965" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=895965" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
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|
||
</div>
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||
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