Article
Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation.
Stroke - 1 Aug 2001
Tuominen S, Juvonen V, Amberla K, Jolma T, Rinne J O, Tuisku S, Kurki T, Marttila R, Pöyhönen M, Savontaus M L, Viitanen M, Kalimo H
Abstract excerpt
BACKGROUND AND PURPOSE: CADASIL is an autosomal dominant arteriopathy, characterized by multiple brain infarcts, cognitive decline, and finally dementia, which is caused by mutations in Notch3 gene encoding a Notch3 receptor protein. We describe the clinical, neuropsychological, imaging, genetic,...
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