遗传 ›› 2023, Vol. 45 ›› Issue (7): 568-579.doi: 10.16288/j.yczz.23-023

• 综述 • 上一篇    下一篇

伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病的发病机制及治疗研究进展

张翌(), 吴志英()   

  1. 浙江大学医学院附属第二医院神经内科,医学遗传科/罕见病诊治中心,杭州 310009
  • 收稿日期:2023-02-01 修回日期:2023-04-27 出版日期:2023-07-20 发布日期:2023-05-09
  • 通讯作者: 吴志英 E-mail:zhangyi_@zju.edu.cn;zhiyingwu@zju.edu.cn
  • 作者简介:张翌,在读博士研究生,专业方向:神经遗传病。E-mail: zhangyi_@zju.edu.cn

Pathogenesis and therapeutic advances of cerebral autosomal- dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Yi Zhang(), Zhi-Ying Wu()   

  1. Department of Medical Genetics and Center for Rare Diseases, and Department of Neurology in Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China
  • Received:2023-02-01 Revised:2023-04-27 Online:2023-07-20 Published:2023-05-09
  • Contact: Zhi-Ying Wu E-mail:zhangyi_@zju.edu.cn;zhiyingwu@zju.edu.cn

摘要:

伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是成人最常见的遗传性脑小血管病。自CADASIL的致病基因NOTCH3被鉴定以来,大量CADASIL病例被报道,但迄今仍缺乏有效的治疗药物。本文针对CADASIL的疾病模型和致病机制、对症药物治疗及潜在治疗方案研究进展进行综述,以期为后续CADASIL发病机制和治疗研究提供参考。

关键词: 伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病, 发病机制

Abstract:

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease in adults. Many CADASIL cases were reported after NOTCH3 was identified as the causative gene of CADASIL. However, there is still no specific and effective therapies for CADASIL. In this review, we summarize recent research progress on disease models, symptomatic treatments and potential therapies for CADASIL, thereby providing a reference for follow-up CADASIL treatment research.

Key words: CADASIL, pathogenesis