2020 年1 期 第28 卷
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单基因遗传性脑小血管病的研究进展
Research Progress on Monogenic Hereditary Cerebral Small Vessel Disease
作者:李莹1 ,喻明 1,2 ,陈小容 2 ,徐磊 2
- 单位:
- 1.563000 贵州省遵义市,遵义医科大学附属医院神经内科;2.629000 四川省遂宁市中心医院神经内科;通信作者:喻明,E-mail:yuming609800@163.com
- 单位(英文):
- 1.Department of Neurology,the Affiliated Hospital of Zunyi Medical Uinversity,Zunyi 563000,China;2.Department of Neurology,the Central Hospital of Suining,Suining 629000,China;Corresponding author:YU Ming,E-mail:yuming609800@163.com
- 关键词:
- 脑血管障碍;脑小血管病;遗传因素;认知障碍;综述
- 关键词(英文):
- Cerebrovascular disorders;Cerebral small vessel disease;Genetic mechanism;Cognition disorders;Review
- 中图分类号:
- R 743
- DOI:
- DOI:10.3969/j.issn.1008-5971.2020.01.003
- 基金项目:
摘要:
脑小血管病(CSVD)指脑内小动脉、小静脉、微动脉、毛细血管等小血管病变导致的一种以认知障碍、进行性痴呆、脑卒中、精神行为异常等为主要表现的脑功能损伤综合征。根据单基因遗传病导致血管病变的机制可将CSVD 分为血管平滑肌细胞病、血管间质性疾病、血管内皮细胞病、血管代谢性疾病等。本文主要综述了单基因遗传性 CSVD 的遗传方式、病理特点、临床表现、影像学表现等,以期为临床有效诊治此类疾病提供参考。
英文摘要:
Cerebral small vessel disease(CSVD)means brain function impairment syndrome that caused by cerebralsmall vessel lesions,involving intracerebral small artery,venule,arteriole,blood capillary and so on. CSVD mainly performsas cognitive disorder,stroke,mental and behavior disorder,and it may classify as vascular smooth muscle cell disease,vascular interstitial disease,vascular endothelial cell disease and vascular metabolic disease according to the mechanismof vasculopathy caused by single-gene inherited disease. This paper mainly reviewed the mode of inheritance,pathologicalcharacteristics,clinical manifestation and imaging findings of monogenic hereditary CSVD,in order to provide a reference forthe effective diagnosis and treatment on clinic.
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