2型腓骨肌萎缩症致病机制研究

Pathogenic mechanisms of Charcot-Marie-Tooth neuropathy type 2

腓骨肌萎缩症(Charcot-Marie-Tooth neuropathy,CMT)是周围神经系统常见的遗传病之一,其临床特征主要表现为四肢远端进行性肌无力和肌萎缩,并伴随感觉障碍。根据神经病理特征的不同CMT可分为几种不同类型,其中2型CMT(CMT2)主要表现为周围神经轴突病变而髓鞘不受影响,神经传导速度正常或轻度减慢。本文以CMT2为切入点,通过对近年来比较有代表性的CMT2致病基因的研究工作进行总结,探讨这些基因在CMT2致病过程中可能存在的共性机制,为更好地理解疾病的遗传异质性提供线索。

Charcot-Marie-Tooth neuropathy(CMT)is one of the most common hereditary diseases in the peripheral nervous system.The clinical symptoms of CMT include progressive distal muscle weakness,muscular atrophy and sensory loss.According to the neuropathological characteristics,CMT is divided into several different types.CMT type 2(CMT2)affects mostly peripheral axons but not myelin,and is characterized by normal or mild-reduced nerve conduction velocity.This review summarized the pathological functions of several representative CMT2-associated genes based on the recent studies,and further discussed their mechanistic commonalities.It may provide valuable clues for better understanding the genetic heterogeneity of CMT.