Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese. Research Abstract Details 

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Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese. Abstract Text:

Hongyan Bi,Yunying Gao,Sheng Yao,Mingrui Dong,Alexander Peter Headley,Yun Yuan,Hongyan Bi,Yunying Gao,Sheng Yao,Mingrui Dong,Alexander Peter Headley,Yun Yuan,

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.

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese. Publishing Authors By Initials

H Bi,Y Gao,S Yao,M Dong,AP Headley,Y Yuan,H Bi,Y Gao,S Yao,M Dong,AP Headley,Y Yuan,

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Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neuropathology : official journal of the Japanese

VOLUME: 27

Page Numbers: 429-33

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ISSN: 0919-6544

DAY: 16

MONTH: Oct

YEAR: 2007

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese. Information

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LANGUAGE: eng

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Grant and Affiliation Information for Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

AFFILIATION: Department of Neurology, Peking University First Hospital, Beijing, China.

Country: Australia

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MEDLINETA: Neuropathology

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