Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Abstract CADASIL (cerebral .autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) (Tournier-Lasserve et al.1993) is a systemic smaIl artery disease which was identified during the past decade, using clinical, magnetic resonance imaging (MRI), pathological, and genetic tools (Tournier-Lasserve et al.1993). The disease is due to mutations of the Notch3 gene on chromosome 19 (Joutel et al.1996). The identification of the CADASIL gene was crucial to determine precisely the different aspects of the clinical phenotype and to understand better the natural history of this new cause of dementia of both subcortical type and pure vascular origin. This was also an essential step to obtain a genetic test which is now used routinely to confirm the diagnosis of the disease.