A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation

被引：40

作者：

Ikeda, Yoshihisa ^{[1
]}

Abe, Akiko ^{[2
]}

Ishida, Chiho ^{[1
,3
]}

Takahashi, Kazuya ^{[1
,3
]}

Hayasaka, Kiyoshi ^{[2
]}

Yamada, Masahito ^{[1
]}

机构：

[1] Kanazawa Univ, Grad Sch Med Sci, Dept Neurol & Neurobiol Aging, Kanazawa, Ishikawa 9208640, Japan

[2] Yamagata Univ, Sch Med, Dept Pediat, Yamagata 99023, Japan

[3] Iou Hosp, Natl Hosp Org, Dept Neurol, Kanazawa, Ishikawa, Japan

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2009年 / 277卷 / 1-2期

关键词：

Distal HMN II; CMT2F; HSP; Late onset; DM; Peripheral nervous systems; MARIE-TOOTH-DISEASE; HEAT-SHOCK PROTEINS; NEUROPATHY; CATARACT; CRYAA; HSP27; PHOSPHORYLATION; MICROCORNEA; EXPRESSION; RESISTANCE;

D O I：

10.1016/j.jns.2008.09.031

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a Japanese family with distal hereditary motor neuronopathy type II (distal HMN II) due to a novel K141Q mutation in heat-shock 27-kDa protein 1 gene (HSPB1/HSP27). A 47-year-old man (proband) with diabetes mellitus (DM) developed distal wasting and weakness of the legs and severe autonomic dysfunctions in his early forties, while his father and grandfather, without DM, demonstrated slowly progressive muscular wasting and weakness in all limbs still later in life. This mutation appears linked with the late-onset clinical phenotype as distal HMN II. Severe autonomic disturbances in the proband were probably due to uncontrolled DM, but may have been related to HSPB1 mutation. (C) 2008 Elsevier B.V. All rights reserved.

引用

页码：9 / 12

页数：4