Article
[CADASIL: genetics and physiopathology].
Bulletin de l'Academie nationale de medecine - 1 Jan 2000
Joutel A, François A, Chabriat H, Vahedi K, Andreux F, Domenga V, Cecillon M, Maciazek J, Bousser M G, Tournier-Lasserve E
Abstract excerpt
CADASIL, an autosomal dominant adult onset arteriopathy causing stroke and dementia in humans, is underlaid by a non atherosclerotic non amyloid angiopathy involving mainly the media of small cerebral arteries; it is characterized by major lesions of vascular smooth muscle cells. Using a positional cloning approach, we mapped CADASIL locus on chromosome 19 and identified the mutated gene as being Notch3. This...
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