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Ales Dudesek

Zystein-aussparende Mutationen bei atypischen CADASIL Varianten – ein neues Krankheitsbild?

Universität Rostock, 2011

https://doi.org/10.18453/rosdok_id00000949

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