A Family with Distal Hereditary Motor Neuropathy and a K141Q Mutation of Small Heat Shock Protein HSPB1
A Family with Distal Hereditary Motor Neuropathy and a K141Q Mutation of Small Heat Shock Protein HSPB1
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DOI：
10.2169/internalmedicine.53.2843
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发表时间：
2014-01-01
影响因子：
1.2
通讯作者：
Takashima, Hiroshi
中科院分区：
文献类型：
--
作者：
Maeda, Kengo;Idehara, Ryo;Takashima, Hiroshi
我们在此描述了一个患有远端遗传性运动神经病的日本家庭，该家族携带小热休克蛋白 HSPB1 的 K141Q 突变。其中两名患者为晚发性疾病（年龄超过50岁）。腿部远端的肌肉无力且萎缩。未见感觉和植物神经功能障碍。即使发病八年后，一名患者仍然可以在没有支撑的情况下行走。神经传导研究揭示了腿部运动神经的轴突变性。在受影响的患者中检测到杂合 K141Q 突变。晚发且轻度的临床表型可能反映了K141Q突变引起的HSP27的轻度生化改变。
We herein describe a Japanese family with distal hereditary motor neuropathy carrying a K141Q mutation of small heat shock protein HSPB1. Two patients among them had late onset disease (older than 50 years). The muscles of the distal legs were weak and atrophic. Sensory and autonomic dysfunction were not seen. Even eight years after onset, one patient could still walk without support. A nerve conduction study revealed axonal degeneration of the motor nerves of the legs. A heterozygous K141Q mutation was detected in the affected patients. The late onset and mild clinical phenotype might reflect the mild biochemical alteration of HSP27 induced by the K141Q mutation.