《中国康复理论与实践》

《中国康复理论与实践》 ›› 2009, Vol. 15 ›› Issue (01): 17-18.

• 专题 • 上一篇    下一篇

周围髓鞘蛋白22基因重复异常的Charcot-Marie-Tooth病患者临床表型分析

叶静;翟红珍;廖张原;李存江   

  1. 首都医科大学宣武医院神经内科,北京市 100053
  • 收稿日期:2008-10-20 出版日期:2009-01-01 发布日期:2009-01-01
  • 通讯作者: 李存江

Clinical Phenotype of Peripheral Myelin Protein 22 Gene Duplication Abnormality in Charcot-Marie-Tooth Disease

YE Jing, ZHAI Hong-zhen, LIAO Zhang-yuan, et al   

  1. Department of Neurology, Xuanwu Hospital Capital Medical University, Beijing 100053, China
  • Received:2008-10-20 Published:2009-01-01 Online:2009-01-01

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摘要： 目的 分析Charcot-Marie-Tooth病（CMT）周围髓鞘蛋白22(PMP22)基因重复异常患者临床症状、体征和电生理特点。方法 61例CMT患者，14例为有家族史的先证者，47例为散发患者，PCR-双酶切方法检测周围髓鞘蛋白22（PMP22）基因重复异常片断，详细问病史和神经系统查体、部分患者行腰穿和腓肠神经病理检查。结果 检出PMP22基因重复异常患者41例，主要临床特点为以双足背屈力弱为主的双下肢无力，伴双侧小腿为主的四肢远端萎缩，80%伴上肢远端肌萎缩，97%踝反射减弱或消失，68%伴有深浅感觉障碍，少数脑脊液蛋白增高，神经电生理和腓肠神经病理提示为脱髓鞘伴有轴索变性。结论 PMP22基因重复异常的CMT患者的临床表现为以下肢远端肌萎缩和肌无力为主，伴有感觉异常；周围神经髓鞘和轴索均有病变。

关键词: Charcot-Marie-Tooth病（CMT）, 周围髓鞘蛋白22（PMP22）基因, 基因重复异常, 临床表型, 病理

Abstract: Objective To analyse the characteristics of symptoms, signs and electrophysiology in Charcot-Marie-Tooth disease (CMT) with peripheral myelin protein 22 (PMP22) gene duplication abnormality.Methods 61 patients with CMT, 14 patients with family history and 47 sporadic patients were included. PMP22 gene duplication fragment was detected with PCR-double enzyme cutting assay. Medical history, signs were collected. Some of them received lumbar puncture and sural nerve pathological examination. Results The main clinical manifestation of the patients with PMP22 gene duplication abnormlity were asthenia of both lower extremities, especially dorsiflexion of foot, accompanied with distal atrophy (especially bilateral legs), some with upper extremity distal atrophy, ankle hyporeflexia or vanished and sensory disturbance. Protein in cerebrospinal fluid may increase, giant potential and conduction velocity of sensory and motor nerve decreased. Sural nerve biopsies revealed demyelination accompanied with axonal degeneration.Conclusion The main clinical manifestation of patients with PMP22 gene duplication abnormlity is charactered as the distal atrophy and asthenia of lower limbs, accompanied with sensory abnormlity. Myelin sheath and axonal alteration were found in electromyogram and peripheral nerve pathology.

Key words: Charcot-Marie-Tooth disease (CMT), peripheral myelin protein 22 (PMP22) gene, duplication abnormality, clinical phenotype, pathology