Abstract
CADASIL is a hereditary stroke disease linked to chromosome 19. The defective gene is Notch 3. The clinical spectrum of the disease includes recurrent strokes, migraine, transient ischaemic attacks, mood changes, and dementia. MRI brain scans show multiple well-delineated ischaemic lesions within the subcortical white matter, as well as diffuse leukoencephalopathy. Focal lesions can also be found in the basal ganglia, corpus callosum, thalamus, and infratentorial brain structures. The angiopathy in CADASIL consists in deposition of basophilic granular material inside the smooth muscle cells of the media without appreciable atherosclerotic alterations or amyloid depositions, involving mainly the small cerebral arteries. The diagnosis of CADASIL is based on the typical clinical features without vascular risk factors, neuroradiological signs of extensive leukoencephalopathy, and the autosomal dominant pattern of inheritance.