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学科主题: 临床医学
题名:
Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese
作者: Bi, Hongyan; Gao, Yunying; Yao, Sheng; Dong, Mingrui; Headley, Alexander Peter; Yuan, Yun
关键词: electrophysiology ; HSAN ; mutation ; neuropathology ; SPTLC1 gene
刊名: NEUROPATHOLOGY
发表日期: 2007-10-01
DOI: 10.1111/j.1440-1789.2007.00808.x
卷: 27, 期:5, 页:429-433
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Neurosciences ; Pathology
研究领域[WOS]: Neurosciences & Neurology ; Pathology
关键词[WOS]: SPTLC1
英文摘要:

Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disorder of the peripheral nervous system characterized by marked progressive sensory loss, with variable autonomic and motor involvement. The HSAN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long chain base subunit 1 (SPTLC1). Sequencing in HSAN I families have previously identified mutations in exons 5, 6 and 13 of this gene. Here we report the clinical, electrophysiological and pathological findings of a proband in a Chinese family with HSAN I. The affected members showed almost typical clinical features. Electrophysiological findings showed an axonal, predominantly sensory, neuropathy with motor and autonomic involvement. Sural nerve biopsy showed loss of myelinated and unmyelinated fibers. SPTLC1 mutational analysis revealed the C133W mutation, a mutation common in British HSAN I families.

语种: 英语
WOS记录号: WOS:000249834300004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59369
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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作者单位: 1.George Inst Int Hlth, Sydney, NSW, Australia
2.Peking Univ First Hosp, Dept Neurol, Beijing 100034, Peoples R China
3.N Coll First Hosp, Dept Geriatr, Zhangjiakou, Hebei Province, Peoples R China

Recommended Citation:
Bi, Hongyan,Gao, Yunying,Yao, Sheng,et al. Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese[J]. NEUROPATHOLOGY,2007,27(5):429-433.
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