Iveta Lisá, Alexandra Genčíková, Gabriel Heinz, Eva Pristašová, Gabriela Timárová
CADASIL represents nonsclerotic nonoamyloid autosomal dominant arteriopathy caused by Notch 3 gene mutation on the 19p13 chromosome. Clinically it is characterized by recurrent ischaemic strokes starting at relatively young age and development of leucoence-phalopathy with typical although nonspecific MRI picture of the brain. The definitive diagnosis of CADASIL can be confirmed by molecular DNA analysis identifying Notch 3 gene mutation. The present article brings an overview of the latest knowledge about CADASIL and the first case of this disease in the Slovak republic diagnosed by DNA analysis.