A Family with Distal Hereditary Motor Neuropathy and a K141Q Mutation of Small Heat Shock Protein HSPB1

被引：23

作者：

Maeda, Kengo ^{[1
]}

Idehara, Ryo ^{[1
]}

Hashiguchi, Akihiro ^{[2
]}

Takashima, Hiroshi ^{[2
]}

机构：

[1] Natl Hosp Org, Dept Neurol, Higashi Ohmi Gen Med Ctr, Tokyo, Japan

[2] Kagoshima Univ, Grad Sch Med & Dent Sci, Dept Neurol & Geriatr, Kagoshima 890, Japan

来源：

INTERNAL MEDICINE | 2014年 / 53卷 / 15期

关键词：

Charcot-Marie-Tooth disease; distal hereditary motor neuropathy; heat shock protein; SMALL HEAT-SHOCK-PROTEIN-27 MUTATION; CHARCOT-MARIE-TOOTH; HSP27; GENE;

D O I：

10.2169/internalmedicine.53.2843

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1655 / 1658

页数：4

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