Lv He, Wang Lu, Li Wurong, Qiao Xiaohui, Li Yuexing, Wang Zhaoxia, Yuan Yun
Department of Neurology, Peking University First Hospital, Beijing, China.
Clin Neuropathol. 2013 Jan-Feb;32(1):16-23. doi: 10.5414/NP300464.
Charcot-Marie-Tooth disease Type 2A2 (CMT2A2), caused by mitofusin 2 (MFN2) genes, has been clinically classified into two types: severe early-onset and mild benign. Here we reported 3 early onset patients with different progressive courses. The 3 patients had mutations R94W, R364W and a novel W740R in the MFN2 gene. Two patients presented with progressive distal limb muscle weakness and wasting from the ages of 5 and 6 years, respectively. The disease developed slowly, with loss of ambulation after 35 years of age. The third patient presented with similar symptoms after birth, and has never been able to walk independently. Sural nerve biopsies revealed severe axonal neuropathy with mitochondrial aggregation in axons. Our data confirmed that early-onset CMT2A2 can present with different courses in Chinese patients. The novel mutation in MFN2 found in this study broadens the genotypic spectrum associated with MFN2 related CMT.
由线粒体融合蛋白2（MFN2）基因引起的2A2型腓骨肌萎缩症（CMT2A2）在临床上分为两种类型：严重早发型和轻度良性型。在此，我们报告了3例具有不同病程的早发型患者。这3例患者在MFN2基因中存在R94W、R364W突变以及一个新的W740R突变。其中两名患者分别在5岁和6岁时出现进行性远端肢体肌肉无力和萎缩。疾病进展缓慢，35岁后失去行走能力。第三名患者出生后即出现类似症状，从未能够独立行走。腓肠神经活检显示严重的轴索性神经病，轴突内有线粒体聚集。我们的数据证实，早发型CMT2A2在中国患者中可表现出不同病程。本研究中发现的MFN2新突变拓宽了与MFN2相关CMT相关的基因型谱。
