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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2002-10-23
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pubmed:abstractText |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited autosomal dominant condition characterized by migraine, recurrent stroke, and dementia. It results from mutations in the notch3 gene but mutations may occur at multiple sites making molecular diagnosis time consuming. It has been suggested that the presence of granular osmiophilic material (GOM) on skin biopsy and involvement of the anterior temporal lobe and external capsule on MRI may help in diagnosis.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0028-3878
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
22
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1134-8
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12395806-Adult,
pubmed-meshheading:12395806-Aged,
pubmed-meshheading:12395806-Biopsy,
pubmed-meshheading:12395806-Dementia, Multi-Infarct,
pubmed-meshheading:12395806-Female,
pubmed-meshheading:12395806-Humans,
pubmed-meshheading:12395806-Magnetic Resonance Imaging,
pubmed-meshheading:12395806-Male,
pubmed-meshheading:12395806-Middle Aged,
pubmed-meshheading:12395806-Point Mutation,
pubmed-meshheading:12395806-Proto-Oncogene Proteins,
pubmed-meshheading:12395806-Receptors, Cell Surface,
pubmed-meshheading:12395806-Receptors, Notch,
pubmed-meshheading:12395806-Skin,
pubmed-meshheading:12395806-Statistics, Nonparametric
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pubmed:year |
2002
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pubmed:articleTitle |
Diagnostic strategies in CADASIL.
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pubmed:affiliation |
Department of Clinical Neuroscience, St. George's Hospital Medical School, London, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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