Abstract
The article presents literature review dedicated to the modern aspects of a rare hereditary disease – cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Data concerning genetic features, pathogenesis, symptoms, methods of diagnosis of the disease, clinical screening of patients for further genetic testing are reviewed. Ethnic and gender characteristics of CADASIL are presented. Challengers in diagnosis are associated with subclinical course of CADASIL up to 40 years, polymorphism of symptoms, and its similarity to other vascular diseases. Pathogenetic treatment that slows the progression of the disease currently is not available.
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