袁 云 孙相如 李险峰 陈清棠 安晓光 吴丽娟 北京医科大学第一临床医学院神经内科(100034) 中国神经精神疾病杂志 1999 0 0 3


    关键词：常染色体显性；遗传性运动感觉性周围神经病Ⅱ型；神经活检；电生理；轴索性周围神经病 期刊 zgsjjsjbzz 0 论著与学术交流 fur -->


    

【摘要】 目的 本文报道一个在老年期发病的遗传性运动感觉性周围神经病Ⅱ型家族。方法 对家族成员进行临床和电生理检查，其中1例病人进行腓肠神经活检。结果 家族成员在老年期出现四肢无力和感觉减退。老年病人和无症状年轻病人的电生理检查均发现周围神经的诱发电位波幅显著下降。腓肠神经活检证实轴索性周围神经病。结论 检查结果符合显性遗传性运动感觉性周围神经病Ⅱ型的诊断，电生理检查可以发现家族中的亚临床病人。

    A family with autosomal dominant hereditary motor and sensory neuropathytype Ⅱ. Yun Yuan, Sun Xiangru, Li Xianfeng, Chen Qingtang, An Xiaoguang, WuLijuan. Department of Neurology, First Hospital, Beijing Medical University, Beijing.100034. Tel:010-66171122-2307

    【Abstracts】Objective An autosomal dominant hereditary motorand sensory neuropathy (HMSN) type Ⅱ was described in a Chinese family. Methods Themembers in the family were studied clinically and electophysilogically. Suralis nervebiopsy was performed in one patient.Results Case 1 was a 64 years\|oldman who appeared chronic progressive muscle weakness of all limbs with mild sensory lossfor over 2 years. Case 2 was the daughter of case 1, who has no neurological symptoms.Marked decrease in evoked potential amplitude with mildly decrease of nerve conductionvelocities was detected in both persons. On morphological examination of suralis nervefrom case 1, the most notable changes were loss of larger myelinated fibers andregenerative appearance.Conclusions The results are consistent withthe diagnosis of autosomal dominant HMSN type Ⅱ. Electrophysiological examination ishelpful for delecling the subclinical patient.

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