常染色体显性遗传腓骨肌萎缩症的临床与基因突变特点  

Clinical features and gene mutations of Chinese patients with autosomal dominant Charcot-Marie-Tooth disease

作　　者：郭鹏[1] 宋福聪[1] 王相斌[1] 冯文霞[1] 胡志强[1] 唐北沙[2] 夏昆[3] 

机构地区：[1]邯郸市中心医院神经内科,河北邯郸056001 [2]中南大学湘雅医院神经内科,湖南长沙410008 [3]中国医学遗传学国家重点实验室,湖南长沙410008

出　　处：《中风与神经疾病杂志》2011年第8期705-707,共3页Journal of Apoplexy and Nervous Diseases

摘　　要：目的探讨常染色体显性遗传腓骨肌萎缩症(CMT)患者的临床与基因突变的特点。方法对43个常染色体显性遗传CMT家系共106例患者的临床表现、电生理和病理特点进行回顾性分析,并进行PMP22的大片段重复突变和PMP22、MPZ、SIMPLE、EGR2、RAB7、NEFL、MFN2、Hsp27及Hsp22基因突变分析。结果 CMT1A和CMT1B致病基因分别为PMP22的大片段重复突变和MPZ基因,这两型患者起病较早,临床表现多见起始于下肢远端的肌无力萎缩,伴感觉减退或缺失,神经系统检查可见小腿肌肉明显萎缩,膝、踝反射减低或消失,弓形足,神经电生理检查示神经传导速度减慢,病理改变可见髓鞘脱失。CMT2A2、CMT2F和CMT2L致病基因分别为MFN2、Hsp27及Hsp22基因,发病率较CMT1低,发病年龄比CMT1较迟,临床症状与CMT1相比,运动系统受累较感觉系统更明显,神经传导速度常在正常范围,病理改变呈轴索变性。结论基因突变分析结果与临床特点一致,准确性高、损伤小,可早期诊断,值得广泛应用于临床,特别是有家族史的患者或高危亲属。Objective To analyze the characteristics of the clinical features and the gene mutations between Chinese patients with autosomal dominant Charcot-Marie-Tooth disease.Methods The clinical manifestations,electrophysiological and pathological investigations of patients with autosomal dominant Charcot-Marie-Tooth were analyzed retrospectively.One hundred and six CMT patients underwent mutation analysis of PMP22 duplication and PMP22,MPZ,SIMPLE,EGR2,RAB7,NEFL,MFN2,Hsp27 and Hsp22.Results CMT1A was caused by PMP22 duplication,and CMT1B was caused by MPZ mutation.In those patients,the age of onset were earlier.The most frequently first symptom was weakness and atrophy in lower limbs with hypesthesia.Physical examination showed distal limb weakness and wasting,and taplipes cavus in all of them.Electromyogram and nerve conduction velocity showed slow nerve conduction.Pathological examination showed demyelination.CMT2A2 was caused by MFN2 mutation,CMT2F was caused by Hsp27 mutation,and CMT2L was caused by Hsp22 mutation.Compared with CMT1,patients of CMT2 were less frequent,the age of onset were later,motor disability was more sever than sensory aisability.Electromyogram and nerve conduction velocity was normal.Pathological examination showed axonal denaturation.Conclusions In this study,the results of the mutation screening were consistent with the clinical features.Mutation screening has the character of high accuracy,little harm and can help to diagnosis earlier,so it suggestes to be performed widely in the clinic especially to the patients who has family history or to the lineal relatives.

关 键 词：腓骨肌萎缩症 常染色体显性遗传 临床 突变分析 

分 类 号：R746.4[医药卫生—神经病学与精神病学]