摘要
近年来的研究表明,以家族遗传方式起病,中年发病且逐渐进展的缺血性卒中样病程,弥漫性多发性白质病变,明确的MRI白质异常信号以及病理学明确的小动脉病变是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(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, CADASIL)的基本特征。分子遗传学研究表明,Notch3基因的多种点突变与CADAS几有关。基因诊断与外周组织活检相结合有可能是CADASIL最有价值的生前诊断手段。从发病机制、临床表现等多个方面研究CADASIL,有助于提高临床诊断率。
Studies in recent years have suggested that the basic characteristics of the identified cerebral autosomal dominant arteriopathy with subeortical infarcts and leukoencephalopathy (CADASIL) are the onset of the disorder with a form of familial hereditary, middle-age onset with progressive ischemic stroke-like course and multiple diffuse white matter lesions, the identified MRI abnormal white matter signals and pathology. Molecular genetic studies have suggested that the multiple mutations of the Notch3 gene are associated with CADASIL.The combination of gene diagnosis with peripheral tissue biopsy may be the most valuable diagnostic means before death. To study CADASIL from the aspects of pathogenesis and clinical manifestations contributes to improve clinical diagnosis rate.
出处
《国际脑血管病杂志》
北大核心
2009年第1期48-52,共5页
International Journal of Cerebrovascular Diseases
关键词
伴皮质下梗死
白质脑病
染色体
遗传性脑动脉病
NOTCH3
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Notch3