Mendel T, Członkowska A
II Kliniki Neurologicznej Instytutu Psychiatrii i Neurologii w Warszawie.
Neurol Neurochir Pol. 1999 Sep-Oct;33(5):1117-28.
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a diffuse disease of small arteries, predominating in the brain. It starts during mid-adulthood and is characterized by recurrent ischaemic events (transient or permanent), attacks of migraine with aura, severe mood disorders, subcortical dementia and at MRI white periventricular leukoencephalopathy. CADASIL is an autosomal dominant disease. The gene Notch3 on which the mutation was detected is located on chromosome 19. There is so far no specific treatment and death occurs after a mean of twenty years.
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)是一种主要累及大脑的小动脉弥漫性疾病。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)、伴先兆的偏头痛发作、严重情绪障碍、皮质下痴呆,且磁共振成像显示脑室周围白质脑病。CADASIL是一种常染色体显性疾病。检测到突变的Notch3基因位于19号染色体上。目前尚无特效治疗方法,平均20年后会导致死亡。