Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum
复制标题
DOI：
10.1016/s0022-510x(02)00270-8
复制
发表时间：
2002-11-15
影响因子：
4.4
通讯作者：
Dichgans, M
中科院分区：
文献类型：
--
作者：
Dichgans, M
NOTCH3基因突变是常染色体显性遗传性脑动脉病皮质下梗塞和白质脑病(CADASIL)的原因，CADASIL是一种遗传性小血管疾病，导致皮质下中风和痴呆。由于血管病理已明确定义，CADASIL可能为腔隙性脑梗塞、缺血性脑白质改变和血管性痴呆的发病机制提供重要的见解。来自不同来源的证据表明，血管平滑肌细胞(VSMC)在疾病的病理生理学中起着中心作用。本文简要概述了该病的表型谱，并讨论了从Notch3突变导致缺血性脑梗塞的一些相关的发病机制。(C)2002 Elsevier Science B.V.保留所有权利。
Mutations in NOTCH3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) an inherited small vessel disease leading to subcortical strokes and dementia. Since the vascular pathology is clearly defined, CADASIL may provide important insights into the mechanisms underlying lacunar infarcts, ischemic white matter changes, and vascular dementia. Evidence from different sources suggests a central role for vascular smooth muscle cells (VSMC) in the pathophysiology of the disease. This article gives a brief overview on the phenotypic spectrum of the disease and discusses some of the relevant disease mechanisms that lead from Notch3 mutations to ischemic infarcts. (C) 2002 Elsevier Science B.V. All rights reserved.