中国神经再生研究(英文版) ›› 2015, Vol. 10 ›› Issue (10): 1696-1697.doi: 10.4103/1673-5374.167771

• 原著:周围神经损伤修复保护与再生 • 上一篇    下一篇

Charcot-Marie-Tooth病1A型和2型糖尿病共存的中国家系

  

  • 收稿日期:2015-07-10 出版日期:2015-10-28 发布日期:2015-10-28

Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

A-ping Sun1, Lu Tang1, Qin Liao2, Hui Zhang1, Ying-shuang Zhang1, Jun Zhang1, *   

  1. 1 Department of Neurology, Peking University Third Hospital, Beijing, China
    2 Department of Neurology, Beijing Jishuitan Hospital, Beijing, China
  • Received:2015-07-10 Online:2015-10-28 Published:2015-10-28
  • Contact: Jun Zhang, M.D., who626@163.com.

摘要:

Charcot-Marie-Tooth病1A型是由17号染色体上重复的周围髓鞘蛋白22基因引起的,是最常见的遗传性脱髓鞘性神经疾病。2型糖尿病是一种常见的代谢紊乱,患者易出现主要感觉神经的病变。在中国,我们发现一个3代有7名成员存在的Charcot-Marie-Tooth病1A型和2型糖尿病共存的中国家系,多重连接探针扩增技术检测发现这一家系中共有7名成员存在重复的周围髓鞘蛋白22基因,但其中仅4名出现2型糖尿病的临床表现,且具有Charcot-Marie-Tooth病1A型多发性神经病的症状,而其余3名无2型糖尿病症状者并未出现Charcot-Marie-Tooth病1A型症状。作者认为,这2种疾病可能存在遗传方面的联系。

关键词: 神经再生, PMP22重复, 脱髓鞘变性, 遗传性疾病, 表型, 轴索缺失, 电生理学, 同心圆结构, 多重连接探针扩增技术

Abstract:

Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of the peripheral myelin protein 22 (PMP22) gene on chromosome 17. It is the most common inherited demyelinating
neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication
of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

Key words: nerve regeneration, PMP22 duplication, demyelinating degeneration, hereditary disease, phenotype, axonal loss, electrophysiology, concentric structure, multiplex ligation-dependent probe amplification, neural regeneration