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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。
Objective To investigate the clinical, electrophysiological and pathological features of Charcot Marie Tooth disease (CMT) caused by the mutation of small heat shock protein 27 (Hsp27). Methods The clinical manifestations, electrophysiological and pathological findings of seven patients with four autosomal dominant CMT2 pedigrees with the same mutation of Hsp27 gene (C379T) were retrospectively analyzed. Results The main clinical features of patients were 35 ~ 60 years of age with an average duration of (17.6 ± 6.6) years and average walking time of 12.6 ± 4.9 years (mean ± SD) (20.7 ± 5.7 years). The patients had sensory disturbances Light and neuroelectrophysiology showed lower-limb nerve conduction velocity was moderate to severe slowing, but the normal or mild slowed upper limbs, nerve biopsy confirmed chronic neuropathy, muscle biopsy showed neurogenic muscle atrophy. Conclusions The C397T mutation of Hsp27 gene can cause CMT2 phenotype. The clinical manifestations of the mutant pedigrees are different from those of the CMT2F pedigree mutated in the literature.