title: [Hereditary cerebral arteriopathy].
abstract: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) is a neurovascular disease caused by mutations of the notch3 gene, manifesting with strokes or stroke-like episodes, psychiatric symptoms, migraine and dementia. The diagnosis can be confirmed by screening exons of this gene. Involvement of the anterior temporal lobe and external capsule on MRI and presence of granular osmiophilic material on skin biopsy may help in diagnosis. We present two Norwegian families with eight members who have symptoms indicating CADASIL. The mutation R182C was demonstrated in exon 4 in seven; one refused gene testing. Two brothers without symptoms also tested positively for this gene mutation.
authors: Nevrologisk avdeling, Sykehuset Østfold Fredrikstad, 1603 Fredrikstad. w-rei@online.no
authors: W Rein
authors: WR
authors: Gustavsen
authors: Kristin
authors: K
authors: Eiklid
mesh_terms: D000368:Aged; D015161:Dementia, Multi-Infarct / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation