Linked Life Data

18941948

Source:http://linkedlifedata.com/resource/pubmed/id/18941948

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
41-42
pubmed:dateCreated
2008-10-22
pubmed:abstractText
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an identifiable cause of inherited stroke among young adults, characterised by diffuse leukoencephalopathy with prominent involvement of the temporal poles and external capsule. The disease is caused by mutations in the NOTCH3 gene encoding a NOTCH3 receptor protein. The clinical course is relentlessly progressive with early transient ischaemic attacks (TIA) or strokes, dementia and finally death in the mid-60s. We describe a 40-year-old patient with clinical features of CADASIL and a positive family history who was a carrier of a new mutation at the exon 4 of the NOTCH3 gene: C162R. Regardless of the distinctive clinical and neuroimaging features one of his siblings had been mistakenly diagnosed as suffering from multiple sclerosis (MS), suggesting that the disease can occasionally be misdiagnosed as MS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1424-7860
pubmed:author
pubmed:issnType
Print
pubmed:day
18
pubmed:volume
138
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
614-7
pubmed:dateRevised
2011-2-15
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
A novel heterozygous mutation in the NOTCH3 gene causing CADASIL.
pubmed:affiliation
Department of Neurology, Athens General Hospital G. Gennimatas, Athens, Greece. eandread@med.uoa.gr
pubmed:publicationType
Journal Article, Case Reports