摘要
伴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)是一种影响青、中年的神经血管性疾病,由位于19号染色体长臂上的Notch3基因突变引起。其临床表现有偏头痛、精神障碍、局灶性神经功能缺失、短暂性脑缺血发作、脑卒中和痴呆。其病理特点包括典型的动脉壁变性和血管中层非动脉粥样硬化、非淀粉样物质沉积,电镜下发现嗜锇颗粒(GOM)可作为诊断依据。作者从临床、影像学、病理学等方面对CADASIL进行简要回顾。
Cerebral autosomal dominant arteriopathy with subcortical infarcts and lecukoencephalopathy （CADASIL） is a recently described neurovascular disease affecting young to middle aged individuals. The disease is caused by mutations in the Notch 3 gene located in the long ann of chromosome 19. The disease clinically is characterized by migrainous headaches , mood disturbances, focal neurologic deficits, transient ischemic attaches, strokes and dementia. Pathologically, the disease is characterized by a stereotypic degeneration of the arterial walls with deposition in the media of a nonatheromatous, nonamyloidotic substance that under the electron microscope （EM） appears as a granular osmiophilic material （GOM）. A review of current literature is presented concerning the clinical, radiological, pathologic and genetic feature of CADASIL.
出处
《医学研究生学报》
CAS
2005年第9期853-856,共4页
Journal of Medical Postgraduates
关键词
脑动脉病
皮质下梗死
白质脑病
NOTCH3基因
Cerebrovascular disease
Subcortical infarction
Leukoencephalopathy
Notch 3 gene
