Advances in therapeutics of monogenic cerebral small vessel disease
10.3760/cma.j.cn113694-20250530-00322
- VernacularTitle:单基因脑小血管病的治疗学研究进展
- Author:
Fang YI
1
;
Wenping GU
Author Information
1. 中南大学湘雅医院老年医学科，长沙410008
- Publication Type:Journal Article
- Keywords:
Cerebral small vessel diseases;
CADASIL;
CARASIL;
Fabry disease;
HTRA1 related autosomal dominant cerebellar small vessel disease;
Collagen 4A1/2 micr
- From:
Chinese Journal of Neurology
2025;58(8):877-882
- CountryChina
- Language:Chinese
-
Abstract:
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.
