Abstract: To explore the clinicopathological characteristics of cerebral autosome dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Methods: The clinical and imaging manifestation were observed on two asymptomatic and one symptomatic patients in a family with CADASIL, and the pathological and ultrastructural changes of brain, skin and muscle were investigated by biopsies. Results: The symptoms are recurrent stroke, dementia, mood disturbance, lumbago and baldness but no migraine. Cranial MRI on the symptomatic patient demonstrated bilateral symmetric leukoencephalopathy and multiple small subcortical lacunar infarcts. The youngest asymptomatic patient in the family showed symmetric lesions of the white matter in anterior temporal lobe. A significant stenosis and hyalinosis in small arteries were observed in the specimen of brain, skin and muscle. A granular PAS positive staining is present in medium layer of arteries, and with negative amyloid staining. By electron microscopy, the characteristic deposition of GOM were seen on the basement of smooth muscle cell. A point mutation in exon 3 of Notch 3 gene with R110 (C/T) were discovered in all three patients. The family has no history of hypertension, hyperlipide and diabetes. Conclusion: The diagnose of CADASIL can be based on the dominant family history, clinical and imaging characteristics, specific GOM deposition on the basement of smooth muscle cell, and the search of point mutation on Notch 3.

Key words: Dementia, Multiinfarct, Cerebral artery disease, Gene, notch3