基因突变相关的脑小血管病研究进展

Progress of Research on Genetic Mutation-related Cerebral Small Vessel Diseases

随着人类基因组学的发展,遗传相关脑小血管病的基因研究近年备受关注。基因研究在发掘出更多基因突变形式和表型的同时,也为明确致病途径、寻找新治疗靶点开创了新的方向。本文对常见的遗传性脑小血管病相关基因及其突变形式、发病机制和临床表型进行了综述。

With the development of human genomics,genetic studies on hereditary cerebral small vessel disease(CSVD)are more active in recent years.Genetic research can not only discover more genotype and phenotype,but also open up a new direction for identifying pathogenic pathways and finding new therapeutic targets.So this article reviewed the relevant genes,genetic mutation,pathogenesis and clinical phenotype of several common hereditary CSVD.