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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

2008; Elsevier BV; Linguagem: Inglês

10.1016/s0072-9752(07)01261-4

2212-4152

Hugues Chabriat, Marie Germaine Bousser,

Moyamoya disease diagnosis and treatment

This chapter describes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) as an inherited small artery disease of mid-adulthood caused by mutations of the NOTCH3 gene on chromosome 19. The exact frequency of CADASIL remains unknown. The disease is not limited to Caucasian families although the disorder was initially recognized in European pedigrees. It has now been diagnosed in Asian, African, and American as well as in Australian and European families. The chapter emphasizes that for patients with a first lacunar stroke before the age of 65 and with leukoaraiosis, the prevalence was estimated at 2%. The screening of mutations in exons 3 and 4 was negative in limited samples of subjects with stroke or dementia in the absence of selective criteria. The acronym CADASIL was proposed to designate this disease and highlight its main characteristics when the gene responsible for the disorder was located on chromosome 19. The chapter concludes that no treatment has been evaluated for CADASIL. Because of the variability in the natural history of the disease, a large number of subjects would have to be included in a randomized trial for a preventive treatment. Some drugs are useful in relieving specific symptoms during the course of CADASIL.