Abstract:

Moyamoya disease (MMD) is a chronic progressive obstructive cerebrovascular disease. At present, the etiology and pathogenesis of MMD are still not clear. Recently, many studies confirmed the genetic susceptibility of MMD and reported that the genetic factors are more important than acquired causes. We summarize the domestic and foreign studies on the genetics of MMD, and expect to provide a guidance for early diagnosis and precise treatment.

Key words: Moyamoya disease, Genes, Genetics, Review

摘要：

烟雾病是一种慢性进行性、闭塞性脑血管病，其病因和发病机制目前尚未阐明。近年来国内外大量研究证实其存在遗传易感性，且遗传性因素在发病机制中的作用较获得性因素更加重要。本文就近年来烟雾病遗传学研究进展进行综述，以为早期诊断和有效精准治疗提供指导。

关键词: 脑底异常血管网病, 基因, 遗传学, 综述