伴有皮质下梗死和白质脑病的常染色体显性遗传脑动脉病发病机制的研究进展  

Progress in the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

作　　者：刘宁 尚俊奎 李巍 高丹丹 孙瑞华 张慧文 张杰文 LIU Ning;SHANG Junkui;LI Wei;GAO Dandan;SUN Ruihua;ZHANG Huiwen;ZHANG Jiewen(Department of Neurology,Zhengzhou University People's Hospital,Henan Provincial People's Hospital,Zhengzhou,Henan 450003,China;Department of Neurology,People's Hospital of Wuhan University,Wuhan,Hubei430060,China)

机构地区：[1]郑州大学人民医院、河南省人民医院神经内科,河南郑州450003 [2]武汉大学人民医院神经内科,湖北武汉430060

出　　处：《中华实用诊断与治疗杂志》2024年第7期749-752,共4页Journal of Chinese Practical Diagnosis and Therapy

基　　金：国家自然科学基金(82171196)。

摘　　要：伴有皮质下梗死和白质脑病的常染色体显性遗传脑动脉病是由Notch3基因突变引起的脑小血管疾病。Notch3基因编码的Notch3蛋白主要在血管平滑肌细胞、周细胞及内皮细胞中表达。Notch3基因突变导致Notch3蛋白结构和功能改变,影响血管平滑肌细胞、周细胞及内皮细胞的结构及功能,进而引起脑血流调节异常等神经血管功能障碍,最终导致脑小血管的病变。本文就其发病机制的研究进展作一综述。Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is a cerebral small vessel disease caused by Notch3 gene mutation.Notch3 protein encoded by Notch3 gene is mainly expressed in vascular smooth muscle cells, pericytes and endothelial cells.Notch3 gene mutation leads to the changes in the structure and function of Notch3 protein, which affects the structure and function of vascular smooth muscle cells, pericytes and endothelial cells, causes neurovascular dysfunction such as abnormal cerebral blood flow regulation, and ultimately leads to cerebral small vessel disease. This paper reviews the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

关 键 词：伴有皮质下梗死和白质脑病的常染色体显性遗传脑动脉病 血管平滑肌细胞 周细胞 内皮细胞 

分 类 号：R743.3[医药卫生—神经病学与精神病学]