New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).

•We report the first Russian CADASIL series.•Sixty percent of patients with ‘clinically suspected’ CADASIL received the molecular diagnosis.•We identified 16 point mutations in Notch3 gene, including 4 new missense mutations.•Two patients were compound-heterozygotes carrying two Notch3 mutations.•No evident phenotype-genotype correlations were found.