单基因遗传性脑小血管病:一种累及多系统的遗传性疾病

Monogenic Hereditary Cerebral Vascular Disease:A Multisystem Genetic Disease

单基因遗传性脑小血管病是一种临床以脑小血管病表现为共同特征,累及多系统的单基因遗传性疾病。其中单基因遗传性脑小血管病的致病基因、突变形式、基因表型和临床表现是临床诊断的关键,同时对它的了解是进一步研究此类疾病的前提。

Monogenic cerebral small vessel disease is a kind of single-gene inherited disease which manifests clinical spectrums involving multiple systems, and cerebral small vessel disease is a common characteristic. The pathogenic genes, mutations, gene phenotypes and clinical spectrums of the major single-gene hereditary cerebral small vessel diseases are the key to diagnosis, and the comprehensive understanding of those elements is the basis to further study these diseases.