腓骨肌萎缩症X型临床、电生理及Connexin 32新突变一例  

Clinical and electrophysical features and a novel Connexin32 gene mutation in an X-linked Charcot-Marie-Tooth disease

作　　者：李韵[1] 笪宇威[1] 

机构地区：[1]首都医科大学宣武医院神经内科,北京100053

出　　处：《脑与神经疾病杂志》2013年第3期218-221,共4页Journal of Brain and Nervous Diseases

基　　金：国家自然科学基金面上项目(81071000)

摘　　要：目的报告1例X连锁型腓骨肌萎缩症(CMTX),探讨其临床表现、电生理特点和连接蛋白32(Cx32)基因突变特点。方法对1例临床诊断CMT患者进行详细的病史采集和临床查体,分析其电生理和神经活检检查结果,同时进行周围髓鞘结构蛋白22(PMP22)基因重复和Connexin32(Cx32)基因突变检测。结果患者临床表现为经典的遗传性感觉运动神经病,肌电图检查提示脱髓鞘损害伴轴索损害,同时出现传导阻滞;神经活检示脱髓鞘性周围神经损害;基因检测发现Cx32基因编码序列第414位碱基发生单碱基错义突变(414C>G),造成其编码的第138位的氨基酸由丝氨酸突变为精氨酸(Ser138Arg)。结论 414C>G突变为Cx32基因新突变,国内外文献未见报道。该基因型没有产生特殊的临床表现,但电生理表现为脱髓鞘为主的混合性周围神经病变,且具有传导阻滞的特点。Cx32基因不同的突变位点和形式可能是导致CMTX临床异质性的原因之一。Objective To report a case of X - linked Chareot - Marie - Tooth disease （CMTX） and to investigate its clinical mani- festations, electrophysiologieal characteristics and Connexin 32 （Cx32） gene mutation. Methods A detailed history and clinical examination were taken for a CMT patient who was diagnosed clinically. The results of eleetromyograph （EMG） and nerve biopsy were analyzed. Peripheral myelin protein 22 （PMP22） gene duplication and Connexin 32 （Cx32） gene mutation were detected. Results The patient had classical clini- cal manifestations of hereditary sensory and motor neuropathy. EMG showed demyelination associated with axonal damage, conduction block was observed. Nerve biopsy showed demyelination. Single - base missense （414C 〉 G） mutations was detected in Cx32 gene, resulting in Ser138Arg. Conclusion 414C 〉 G mutation of the Cx32 gene is a novel mutation, which has never been reported. The genotype do not pro- duce specific clinical manifestations, but EMG shows mixed demyelinating and axonal neuropathy, accompanied with conduction block. Differ- ent side and form mutation in Cx32 gene may be one reason of clinical heterogeneity of the disease.

关 键 词：腓骨肌萎缩症 连接蛋白32基因突变 脱髓鞘 传导阻滞 

分 类 号：R741[医药卫生—神经病学与精神病学]