期刊
JOURNAL OF THE NEUROLOGICAL SCIENCES
卷 277, 期 1-2, 页码 9-12出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2008.09.031
关键词
Distal HMN II; CMT2F; HSP; Late onset; DM; Peripheral nervous systems
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.
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