Cadasil

Newly described in the past decade, CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a genetic disorder of cerebral white matter in which ischemia and infarction slowly erode neurologic and neurobe-havioral function. The disease is known to be caused by one of several mutations in the notch 3 region of chromosome 19, and characteristic granular osmio-philic material is seen in the walls of arterioles on electron microscopy. The clinical course begins in adulthood and may be characterized by neuropsychia-tric dysfunction, migraine, stroke, and dementia. MRI scans regularly show leukoencephalopathy, even in individuals who are asymptomatic. Treatment is limited to supportive care and prevention of cerebro-vascular risk factors that can exacerbate the process.

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