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目的 探讨腓骨肌萎缩症(Charcot-Marie-Tooth disease,CMT)常见亚型的临床表现和周围神经病理改变.方法 收集2005-2015年就诊于我院神经内科门诊并经基因检查证实的81例CMT患者,其中CMT1A型31例(38.3％),CMTX1型19例(23.5％),CMT2A2型16例(19.8％),其他9种少见CMT亚型患者合计15例(1.2％～4.9％).比较其中48例3种常见类型患者在平均发病年龄、病程、下肢远端肌力、高弓足出现率之间的差异,同时比较其腓肠神经病理改变的差异.结果 CMT1A型患者的发病年龄为(12.00 ±6.77)岁,CMTX1型(11.81±4.65)岁,CMT2A2型(5.00±2.68)岁(Brown-Forsythe检验,P=0.001).CMT1A型病程为(12.00±6.75)年,CMTX1型为(8.50±4.75)年,CMT2A2型为(5.00±2.73)年(Brown-Forsythe检验,P=0.001).下肢足背伸肌力在CMT1A为Ⅳ(0,Ⅴ)级,CMTX1为Ⅲ+(0,Ⅳ)级,CMT2A2为0(0,Ⅳ)级(H=11.359,P=0.020).高弓足出现在15/23的CMT1A型、10/16的CMTX1型和1/9的CMT2A2型患者(Fisher检验,P=0.017).3例出现脑部症状患者均为CMTX1型.3例伴随有视力下降的患者均为CMT2A2型.腓肠神经有髓神经纤维的洋葱球样结构出现在23/23的CMT1A、5/16的CMTX1和2/9的CMT2A2患者(Fisher检验,P=0.000);再生簇出现在16/23的CMT1A、16/16的CMTX1和9/9的CMT2A2患者(x2=7.666,P=0.016).上述指标在3组间差异均具有统计学意义.结论 CMT1A型、CMTX1型和CMT2A2型是本组患者最常见的CMT亚型,关注发病年龄、病程、肌力下降程度、高弓足出现率、脑部以及视神经损害的出现有助于三者的临床区分,注意有髓神经纤维洋葱球样结构和再生簇出现程度也有助于其病理分型.

Objective To analyze the differences of the clinical and neuropathological features among the common Charcot-Marie-Tooth disease (CMT) subtypes.Methods There were 81 CMT patients confirmed by genetic testing from 2005 to 2015 in Department of Neurology,Peking University First Hospital,including 31 cases of CMT1A (38.3％),19 cases of CMTX1 (23.5％),16 cases of CMT2A2 (19.8％) and 15 cases of 9 rare types of CMT (1.2％-4.9％).We compared the onset age,duration,muscles weakness of legs,frequency of pes cavus,and main pathological changes of the sural nerve biopsy in 48 cases of the common CMT subtypes.Results The mean age of the onset was (12.00 ± 6.77) years in CMT1A patients,(11.81 ±4.65) years in CMTX1 patients and (5.00 ±2.68) years in CMT2A2 patients (Brown-Forsythe test,P =0.001).The duration was (12.00 ± 6.75) years in CMT1A patients,(8.50 ± 4.75) years in CMTX1 patients and (5.00 ± 2.73) years in CMT2A2 patients (Brown-Forsythe test,P =0.001).The muscle force of the dorsi flexors was Ⅳ (0,Ⅴ) in CMT1A patients,Ⅲ + (0,Ⅳ) in CMTX1 patients and 0 (0,Ⅳ) in CMT2A2 patients (H =11.359,P =0.020).The pes cavus appeared in 15/23 cases of CMT1A,10/16 cases of CMTX1 and 1/9 cases of CMT2A2 (Fisher test,P=0.017).The leukoencephalopathy appeared only in 3 cases of CMTX1 and the visual loss appeared only in 3 cases of CMT2A2.The onion-bulb formations of myelinated fibers appeared in 23/23 cases of CMT1 A,5/16 cases of CMTX1 and 2/9 cases of CMT2A2(Fisher test,P =0.000).The axonal regeneration appeared in 16/23 cases of CMT1A,16/16 cases of CMTX1 and 9/9 cases of CMT2A2 (x2 =7.666,P =0.016).There were significant differences among the three common CMT subtypes in the above parameters.Conclusions CMT1A,CMT2A2 and CMTX1 are the most common subtypes of CMT in the present study.For the clinical diagnosis,more attention should be paid to the onset of the disease,duration,muscles weakness,pes cavus,cerebral symptoms and visual loss.The present frequency of onion-bulb and the axonal regeneration of myelinated fibers help the different pathological diagnosis among them.