Article
APOE and AGT in the Finnish p.Arg133Cys CADASIL population.
Acta neurologica Scandinavica - 1 Dec 2015
Siitonen M, Mykkänen K, Pescini F, Rovio S, Kääriäinen H, Baumann M, Pöyhönen M, Viitanen M
Abstract excerpt
BACKGROUND: CADASIL is an inherited systemic small vessel disease, the affected status of brain vessels leading to subcortical vascular dementia. The defective gene is NOTCH3 in which over 230 different pathogenic mutations have been identified. The clinical course of CADASIL is highly variable even within families. Previous studies have shown that additional genetic factors modify the phenotype. AIMS AND...
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