New diagnostic criteria for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy in Japan.

•Diagnostic criteria for CADASIL help physicians to consider genetic testing.•New criteria were generated from clinical features of Japanese CADASIL patients.•Validation of the new criteria revealed high sensitivity but low specificity.•40 NOTCH3 missense mutations were identified among 102 CADASIL patients.