卡德西尔
白质脑病
脑淀粉样血管病
医学
病理
疾病
发病机制
血管病
生物信息学
神经科学
痴呆
生物
糖尿病
内分泌学
作者
Lamei Yuan,Xiangyu Chen,Joseph Jankovic,Hao Deng
标识
DOI:10.1016/j.jare.2024.01.001
摘要
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease (CSVD), pathologically characterized by a non-atherosclerotic and non-amyloid diffuse angiopathy primarily involving small to medium-sized penetrating arteries and leptomeningeal arteries. In 1996, mutation in the notch receptor 3 gene (NOTCH3) was identified as the cause of CADASIL. However, since that time other genetic CSVDs have been described, including the HtrA serine peptidase 1 gene-associated CSVD and the cathepsin A gene-associated CSVD, that clinically mimic the original phenotype. Though NOTCH3-associated CSVD is now a well-recognized hereditary disorder and the number of studies investigating this disease is increasing, the role of NOTCH3 in the pathogenesis of CADASIL remains elusive.
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