小热休克蛋白27基因突变所致腓骨肌萎缩症患者的临床、电生理和病理特点  

Analysis of the clinical, electrophysiological and histopathological features of Chinese Charcot-Marie-Tooth disease patients with small heat-shock protein 27 gene mutation

作　　者：刘小民[1] 唐北沙[1] 赵国华[1] 夏昆[2] 张付峰[1] 严新翔[1] 肖岚[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]中南大学中国医学遗传学国家重点实验室

出　　处：《中华神经科杂志》2005年第5期286-289,共4页Chinese Journal of Neurology

基　　金：国家"863"计划资助项目(2004AA227040);国家自然科学基金资助项目(30300199;30300200)

摘　　要：目的探讨小热休克蛋白27基因(smallheat shockprotein27,Hsp27)突变所致腓骨肌萎缩症(Charcot Marie Toothdisease,CMT)患者的临床、电生理和病理特点。方法对发现Hsp27基因同一突变(C379T)的4个常染色体显性遗传CMT2家系的7例患者的临床表现、电生理和病理检查进行回顾性分析。结果患者主要临床特点为35～60岁发病,平均病程(17.6±6.6)年,发病后平均(12.6±4.9)年需要扶拐杖行走,平均(20.7±5.7)年完全丧失行走能力;患者感觉障碍轻,神经电生理示下肢神经传导速度呈中至重度减慢,但上肢正常或轻度减慢,神经活检证实为慢性轴突性神经病,肌肉活检显示神经原性肌萎缩。结论Hsp27基因C397T突变可引起CMT2表现型,突变家系的临床表现与文献报道的该基因突变CMT2F家系有所不同。ObjectiveTo analyze the features of the clinical manifestations, electrophysiological and histopathological investigations of Chinese Charcot-Marie-Tooth disease (CMT)patients with small heat-shock protein 27 (Hsp27) gene mutation.MethodsRetrospective analysis of the clinical manifestations and electrophysiological and histopathological investigations in 7 patients who came from 4 autosomal dominant CMT 2 families. These 4 families were caused by a same mutation C397T in Hsp27 gene and the haplotype analysis indicated they probably had a common founder.ResultsThe clinical manifestations of these patients were characterized by later onset (35 to 60 years old, 46.3±9.0 years averagely) and the duration of the disease was 17.6±6.6 years. Patients required a walking stick after an age of 12.6±4.9 years and required a wheelchair after 20.7±5.7 years after the onset. Patients showed mild sensory impairments. Electrophysiological findings showed moderately to severely slowed nerve conduction velocities (NCV) in lower limbs but normal or mildly reduced in upper limbs. A sural nerve biopsy was consistent with a chronic axonal neuropathy and muscle biopsy showed a neurogenic muscular atrophy.ConclusionsThe C379T mutation in Hsp27 gene might cause CMT2 beside distal hereditary motor neuropathy and the clinical manifestations were distinct from the CMT2F family reported previously, providing a further evidence for the clinical heterogeneity of CMT caused by the same mutation or by different mutations in the same gene.

关 键 词：小热休克蛋白27 腓骨肌萎缩症 基因突变 病理特点 患者 常染色体显性遗传 protein disease P27基因 神经传导速度 临床表现 回顾性分析 神经电生理 病理检查 临床特点 行走能力 感觉障碍 神经活检 性肌萎缩 肌肉活检 文献报道 

分 类 号：R746[医药卫生—神经病学与精神病学]