Universität Rostock, 2011
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease caused by mutations in the NOTCH3 gene. In this study we analyzed a larger cohort of young patients with stroke for NOTCH3 mutations by sequencing the entire coding region of the NOTCH3 gene. We did not detect “classical” CADASIL-causing mutations, which lead to a gain or loss of a cysteine residue. However, three novel cysteine-sparing NOTCH3 mutations were identified. They may be associated with an “atypical” or “variant” CADASIL phenotype.
doctoral thesis free access