中国神经再生研究(英文版) ›› 2014, Vol. 9 ›› Issue (4): 440-446.doi: 10.4103/1673-5374.128258

• 原著:退行性病与再生 • 上一篇    下一篇

中国亨廷顿舞蹈病的一个家系研究

  

  • 收稿日期:2013-12-20 出版日期:2014-02-25 发布日期:2014-02-25
  • 基金资助:

    中央高校基本科研业务费专项资金(20100141110017,20103030201000217,201130302020008)

Examination of Huntington’s disease in a Chinese family

Mingxia Yu, Xiaogai Li, Sanyun Wu, Ji Shen, Jiancheng Tu   

  1. Department of Clinical Laboratory Medicine & Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, Hubei Province, China
  • Received:2013-12-20 Online:2014-02-25 Published:2014-02-25
  • Contact: Jiancheng Tu, M.D., Ph.D., Department of Clinical Laboratory Medicine & Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan 430071, Hubei Province, China, 316099811@qq.com.
  • Supported by:

    This study was supported by the Fundamental Research Funds for the Central Universities, No. 20100141110017, 20103030201000217 and 201130302020008.

摘要:

我们对来自中国武汉市一亨廷顿舞蹈病家系临床影像学资料及基因诊断情况进行分析,结果显示该家系3代17名成员中,Ⅱ2,Ⅱ6,Ⅲ5和Ⅲ9共4例患者出现舞蹈样不自主运动,其中Ⅱ2,Ⅱ6和Ⅲ5患者头颅MRI检测显示侧脑室扩大,基因检测显示Ⅲ5和Ⅲ9存在IT15基因CAG异常扩展,且临床症状和影像学特征表现为亨廷顿舞蹈病表现。结果证实亨廷顿舞蹈病患者的临床确诊需要结合临床症状、影像学改变及基因诊断进行联合分析。

关键词: 神经再生, 神经退行性疾病, 亨廷顿舞蹈病, 临床症状, 影像学, 基因诊断, IT15基因, CAG重复序列, 基金资助文章

Abstract:

We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington’s disease. Among 17 family members across three generations, four patients (II2, II6, III5, and III9) show typical Huntington’s disease, involuntary dance-like movements. Magnetic resonance imaging found lateral ventricular atrophy in three members (II2, II6, and III5). Moreover, genetic analysis identified abnormally amplified CAG sequence repeats (> 40) in two members (III5 and III9). Among borderline cases, with clinical symptoms and brain imaging features of Huntington’s disease, two cases were identified (II2 and II6), but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington’s disease. Our findings suggest that clinical diagnosis of Huntington’s disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.

Key words: nerve regeneration, neurodegenerative disease, Huntington’s disease, clinical symptoms, imaging, genetic diagnosis, IT15 gene, CAG repeat, neural regeneration