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Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese
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
2007-10-01
DOI10.1111/j.1440-1789.2007.00808.x
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
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被引频次:5[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59369
专题北京大学第一临床医学院_神经内科
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
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GB/T 7714
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.
APA Bi, Hongyan,Gao, Yunying,Yao, Sheng,Dong, Mingrui,Headley, Alexander Peter,&Yuan, Yun.(2007).Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.NEUROPATHOLOGY,27(5),429-433.
MLA Bi, Hongyan,et al."Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese".NEUROPATHOLOGY 27.5(2007):429-433.
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