Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum in patients from mainland China.

[cadasil]

Aims : To analyze the NOTCH 3 gene mutations in patients from mainland China clinically suspected to have cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL ) and evaluate large intracranial arteries in CADASIL patients . Methods : We performed clinical , neuroimaging and NOTCH 3 gene (exons 2 -23 ) examinations in 47 subjects from 34 families . Large intracranial arteries were assessed using magnetic resonance angiography (MRA ) in 19 cases with NOTCH 3 gene variants . Results : Screening of exons 3 and 4 identified six different known mutations in eight families and two novel mutations in two families . Further screening of the remaining exons identified p .R 1175 W , a variant of unknown significance . The incidence of NOTCH 3 mutations was 29 .4 % (10 /34 ). Five cases with NOTCH 3 mutations showed intracranial atherosclerosis . One patient developed cerebral infarction due to left middle cerebral artery occlusion (M 2 segment ). Conclusions : The NOTCH 3 mutation spectrum in our group was diverse and consistent with those in Caucasians but differed from those in Korea and Taiwan . The screening strategy used in Caucasian populations can be applied to mainland Chinese patients . Atherosclerosis of the large intracranial arteries involvement does not exclude CADASIL diagnosis .