中风与神经疾病杂志2025，Vol.42Issue(10)：947-954,8.DOI:10.19845/j.cnki.zfysjjbzz.2025.0174
单基因遗传性脑小血管病的研究进展
Research advances in monogenic hereditary cerebral small vessel disease
摘要
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 expres-sion,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.关键词
脑小血管病/单基因/综述Key words
Cerebral small vessel disease/Monogenic/Review分类
临床医学引用本文复制引用
梁心怡,曾宁鑫,王涛..单基因遗传性脑小血管病的研究进展[J].中风与神经疾病杂志,2025,42(10):947-954,8.基金项目
国家自然科学基金项目(81801068) （81801068）
宜昌市医疗卫生研究项目(A24-2-001) （A24-2-001）
