Document Detail

MedLine Citation:
PMID:  19539236     Owner:  NLM     Status:  MEDLINE    
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. Clinical and neuroimaging features resemble those of sporadic small-artery disease, although patients with CADASIL have an earlier age at onset of stroke events, an increased frequency of migraine with aura, and a slightly variable pattern of ischaemic white-matter lesions on brain MRI. NOTCH3 (Notch homolog 3), the gene involved in CADASIL, encodes a transmembrane receptor primarily expressed in systemic arterial smooth-muscle cells. Pathogenetic mutations alter the number of cysteine residues in the extracellular domain of NOTCH3, which accumulates in small arteries of affected individuals. Functional and imaging studies in cultured cells, genetically engineered mice, and patients with CADASIL have all provided insights into the molecular and vascular mechanisms underlying this disease. A recent multicentre trial in patients with cognitive impairment emphasises the feasibility of randomised trials in patients with CADASIL. In this Review, we summarise the current understanding of CADASIL, a devastating disorder that also serves as a model for the more common forms of subcortical ischaemic strokes and pure vascular dementia.
Hugues Chabriat; Anne Joutel; Martin Dichgans; Elizabeth Tournier-Lasserve; Marie-Germaine Bousser
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  The Lancet. Neurology     Volume:  8     ISSN:  1474-4422     ISO Abbreviation:  Lancet Neurol     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-06-22     Completed Date:  2009-08-14     Revised Date:  2014-08-15    
Medline Journal Info:
Nlm Unique ID:  101139309     Medline TA:  Lancet Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  643-53     Citation Subset:  IM    
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MeSH Terms
Brain / blood supply*,  pathology*
Brain Infarction / etiology,  pathology,  physiopathology
Brain Ischemia / etiology,  pathology,  physiopathology
CADASIL / genetics,  pathology*,  therapy
Cerebral Arteries / metabolism,  pathology*,  physiopathology*
Disease Progression
Genetic Predisposition to Disease / genetics
Migraine with Aura / etiology,  pathology,  physiopathology
Muscle, Smooth, Vascular / metabolism,  pathology,  physiopathology
Receptors, Notch / genetics
Reg. No./Substance:
0/NOTCH3 protein, human; 0/Receptors, Notch

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