摘要
单基因脑小血管病是指由单基因突变导致的罕见的遗传性脑小血管病,其临床和遗传异质性极大,导致误诊率较高。尽管单基因脑小血管病的致病基因已被部分发现,但其病理生理机制仍不清楚,更缺乏有效的治疗手段。近年来对单基因脑小血管病的遗传学研究取得了长足的进步,文中主要总结了4种相对常见的单基因脑小血管病的治疗学研究进展,为进一步深入探索提供新的思路。
Monogenic cerebral small vessel disease refers to a group of rare hereditary cerebral small vessel diseases caused by a single gene mutation,which is clinically and genetically heterogeneous,resulting in a high rate of misdiagnosis.Although the causative genes of monogenic cerebral small vessel disease have been partially discovered,the pathophysiological mechanism is still unclear,and there is a lack of effective treatment.In recent years,great progress has been made in the genetic research of monogenic cerebral small vessel disease.The therapeutic research progress of 4 relatively common monogenic cerebral small vessel diseases was mainly summarized in this article,in order to provide new directions for further in-depth exploration.
作者
易芳
谷文萍
Yi Fang;Gu Wenping(Department of Geriatrics,Xiangya Hospital,Central South University,Changsha 410008,China;Department of Neurology,Xiangya Hospital,Central South University,Changsha 410008,China)
出处
《中华神经科杂志》
北大核心
2025年第8期877-882,共6页
Chinese Journal of Neurology
基金
湖南省重点研发计划(2023SK2019)
国家自然科学基金(82371343,82471362)。
