Abstract
CADASIL is an inherited cerebrovascular disease that cause migraine-like headache and recurrent stroke. Mutations of Notch3 gene on chromosome 19 are responsible for CADASIL. Usually these mutations might change the number of cysteine residue. We examined the mutation of Notch3 gene in independent 21 Japanese patients with leukoaraiosis without hypertension. Four patients were in our hospital, and 17 patients were from other hospitals in mainly Western Japan. We examined the DNA extracted from the peripheral blood in all patients with informed consent. We analyzed exon 3-4, 11 and 19 of Notch3 with PCR-sequencing method. In seven patients, we examined samples obtained by skin biopsy to detect GOM (granular osmiophilic materials) with electron microscope. Five patients revealed to have mutations related with cysteine (R90C, C123Y, R133C, R153C and R169C) and one patient with V237M had GOM in arterioles of skin. Then six patients were diagnosed to have CADASIL. We could not find GOM in other 6 biopsy samples including three geneticaly diagnosed CADASIL patients. All patients diagnosed as CADASIL had family history of stroke.We think CADASIL is popular also in Japan, and genetic examination should be done in patients with leukoaraiosis without hypertension especially who had family history of stroke.
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