Cerebral autosomal dominant arteriopathy with subcortical infarcts and 
leukoencephalopathy is a cerebrovasuclar disease caused by NOTCH3 mutations, 
usually localized to exons 3 and 4. This report describes the clinical and 
neuroradiological findings of 2 subjects of two unrelated Japanese families who 
shared a common p.Arg332Cys mutation. The subject from family A presented 
syncope attacks as the sole clinical presentation at the beginning of his 
disease course. The subject from family B showed recurrent ischemic attacks, 
followed by a large intracranial hemorrhage. This is the first report to 
describe the detailed phenotypes of patients with a rare p.Arg332Cys mutation in 
Japan.