CADASIL - CEREBRAL AUTOSOMAL-DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently identified cause of strok e and vascular dementia. It is a condition of mid-adulthood due to mut ations of Notch 3 gene on chromosome 19. Whereas the disease was first reported in European families, since 1993 CADASIL has been observed i n American, African and Asiatic pedigrees, suggesting that today, the disease probably still remains largely underdiagnosed. The pathologica l data first dealt with the white matter and the basal ganglia showing the features observed in Binswanger's subcortical arteriopathic encep halopathy; over the past few years, CADASIL has become appreciated as a systemic Vascular disease with specific features. Here we have revie wed the literature from 1977 to the present for pathologically and gen etically verified cases accompanied by relatively complete clinical de scriptions so as to give the pathological features associated with thi s condition a clearer definition. The review will focus mainly on path ological studies and the pathophysiological mechanisms most likely to be involved in CADASIL.