中国卒中杂志 ›› 2013, Vol. 8 ›› Issue (06): 486-490.

• 综述 • 上一篇    下一篇

单基因遗传性脑小血管病:一种累及多系统的遗传性疾病

李伟1,张在强1,李少武2,李玉香3,王拥军1   

  1. 1100050 北京
    首都医科大学附属北京天坛医院神经内科
    2首都医科大学神经外科研究所
    3密云县医院神经内科
  • 收稿日期:2013-01-18 出版日期:2013-06-20 发布日期:2013-06-20
  • 通讯作者: 王拥军 yongjunwang1962@gmail.com
  • 基金资助:

    国家重点基础研究发展计划(973计划)资助项目(2009CB521905)
    北京市脑血管病临床数据和样本资源库建设(D09050703560904)
    脑血管病转化医学北京市重点实验开放课题资助

Monogenic Hereditary Cerebral Vascular Disease:A Multisystem Genetic Disease

  1. *Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China
  • Received:2013-01-18 Online:2013-06-20 Published:2013-06-20

摘要:

【摘要】 单基因遗传性脑小血管病是一种临床以脑小血管病表现为共同特征,累及多系统的单基因遗传性疾病。其中单基因遗传性脑小血管病的致病基因、突变形式、基因表型和临床表现是临床诊断的关键,同时对它的了解是进一步研究此类疾病的前提。

文章导读: 本文概述了单基因遗传性脑小血管病的基因突变形式及临床特点。

关键词: 遗传性脑小血管病; 基因表型; 临床表现

Abstract:

【Abstract】 Monogenic cerebral small vessel disease is a kind of single-gene inherited disease which manifests clinical spectrums involving multiple systems, and cerebral small vessel disease is a common characteristic. The pathogenic genes, mutations, gene phenotypes and clinical spectrums of the major single-gene hereditary cerebral small vessel diseases are the key to diagnosis, and the comprehensive understanding of those elements is the basis to further study these diseases.

Key words: Hereditary cerebral small vessel disease; Gene phenotypes; Clinical spectrums