Chabriat H, Joutel A, Vahedi K, Iba-Zizen M T, Tournier-Lasserve E, Bousser M G
Service de Neurologie, Hôpital Saint-Antoine, Paris.
J Mal Vasc. 1996;21(5):277-82.
Recently identified, CADASIL is a diffuse disease of small arteries, predominating in the brain. It starts during mid-adulthood and is characterized by recurrent ischemic events (transient or permanent), attacks of migraine with aura, severe mood disorders, subcortical dementia and, at MRI, a white spread leukoencephalopathy. There is so far no specific treatment and death occurs after a mean of twenty years. CADASIL is an autosomal dominant condition and the gene Notch 3 is located on chromosome 19, in the same region as another neurological disorder, familial hemiplegic migraine.
最近发现的伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)是一种小动脉弥漫性疾病,主要累及脑部。它始于成年中期,其特征为反复出现缺血性事件(短暂性或永久性)、有先兆偏头痛发作、严重情绪障碍、皮质下痴呆,且在磁共振成像(MRI)上表现为白质广泛病变。目前尚无特效治疗方法,平均20年后会导致死亡。CADASIL是一种常染色体显性遗传病,Notch 3基因位于19号染色体上,与另一种神经系统疾病——家族性偏瘫性偏头痛位于同一区域。