Research advances in monogenic hereditary cerebral small vessel disease
10.19845/j.cnki.zfysjjbzz.2025.0174
- VernacularTitle:单基因遗传性脑小血管病的研究进展
- Author:
Xinyi LIANG
1
;
Tao WANG
1
Author Information
1. Department of Neurology， Yichang Central People's Hospital， The First Clinical Medical College of China Three Gorges University， Yichang 443000， China
- Publication Type:Journal Article
- Keywords:
Cerebral small vessel disease;
Monogenic;
Review
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(10):947-954
- CountryChina
- Language:Chinese
-
Abstract:
Monogenic hereditary cerebral small vessel disease （CSVD） is a group of genetic disorders characterized by cerebrovascular lesions， including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy， cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy， COL4A1 and COL4A2-related CSVD， and other rare types such as retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations and leukoencephalopathy with calcifications and cysts. These diseases are often caused by specific gene mutations and exhibit highly heterogeneous pathological mechanisms and clinical manifestations， including inflammatory response， abnormal gene expression， and microangiopathy. The advances in imaging findings and biomarkers have provided new methods for early diagnosis， while treatment strategies include stem cell therapy， immunotherapy，gene editing， and molecular targeted therapy. However， further studies are needed to develop individualized treatment regimens for different subtypes. This article reviews the important advances in the pathogenesis， clinical features， diagnostic methods， and treatment modalities of monogenic hereditary CSVD in recent years， in order to provide guidance for future research and clinical practice.
- Full text:2025122916213818731单基因遗传性脑小血管病的研究进展.pdf
