DYT1 mutation in a cohort of Taiwanese primary dystonias

Yen Wen Lin; Hsiu Chen Chang; Yah Huei Wu Chou; Rou Shayn Chen; Wen Chi Hsu; Wen Shiang Wu; Yi Hsin Weng; Chin Song Lu

doi:10.1016/j.parkreldis.2005.08.002

DYT1 mutation in a cohort of Taiwanese primary dystonias

Yen Wen Lin, Hsiu Chen Chang, Yah Huei Wu Chou, Rou Shayn Chen, Wen Chi Hsu, Wen Shiang Wu, Yi Hsin Weng, Chin Song Lu^*

^*Corresponding author for this work

School of Traditional Chinese Medicine

Research output: Contribution to journal › Journal Article › peer-review

25 Scopus citations

Abstract

To investigate the DYT1 gene mutation in Chinese ethnic, we examined a series of 200 patients with primary dystonias (11 familial and 189 sporadic), 53 of their asymptomatic relatives, 97 patients with familial or early-onset parkinsonism, and 200 healthy subjects. The GAG deletion at codon 946 was only found in three sporadic dystonia patients and seven of their asymptomatic familial members. The frequency of GAG deletion was 1.5% in dystonia patients, and was 6.7% in early-onset dystonias (≦26 years). We conclude that DYT1 mutation is a minor cause of primary dystonias in a cohort of Taiwanese population.

Original language	English
Pages (from-to)	15-19
Number of pages	5
Journal	Parkinsonism and Related Disorders
Volume	12
Issue number	1
DOIs	https://doi.org/10.1016/j.parkreldis.2005.08.002
State	Published - 01 2006

Keywords

DYT1 gene
Dystonia
Mutation
Parkinsonian disorders

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10.1016/j.parkreldis.2005.08.002

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title = "DYT1 mutation in a cohort of Taiwanese primary dystonias",

abstract = "To investigate the DYT1 gene mutation in Chinese ethnic, we examined a series of 200 patients with primary dystonias (11 familial and 189 sporadic), 53 of their asymptomatic relatives, 97 patients with familial or early-onset parkinsonism, and 200 healthy subjects. The GAG deletion at codon 946 was only found in three sporadic dystonia patients and seven of their asymptomatic familial members. The frequency of GAG deletion was 1.5% in dystonia patients, and was 6.7% in early-onset dystonias (≦26 years). We conclude that DYT1 mutation is a minor cause of primary dystonias in a cohort of Taiwanese population.",

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author = "Lin, {Yen Wen} and Chang, {Hsiu Chen} and Chou, {Yah Huei Wu} and Chen, {Rou Shayn} and Hsu, {Wen Chi} and Wu, {Wen Shiang} and Weng, {Yi Hsin} and Lu, {Chin Song}",

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T1 - DYT1 mutation in a cohort of Taiwanese primary dystonias

AU - Lin, Yen Wen

AU - Chang, Hsiu Chen

AU - Chou, Yah Huei Wu

AU - Chen, Rou Shayn

AU - Hsu, Wen Chi

AU - Wu, Wen Shiang

AU - Weng, Yi Hsin

AU - Lu, Chin Song

PY - 2006/1

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AB - To investigate the DYT1 gene mutation in Chinese ethnic, we examined a series of 200 patients with primary dystonias (11 familial and 189 sporadic), 53 of their asymptomatic relatives, 97 patients with familial or early-onset parkinsonism, and 200 healthy subjects. The GAG deletion at codon 946 was only found in three sporadic dystonia patients and seven of their asymptomatic familial members. The frequency of GAG deletion was 1.5% in dystonia patients, and was 6.7% in early-onset dystonias (≦26 years). We conclude that DYT1 mutation is a minor cause of primary dystonias in a cohort of Taiwanese population.

KW - DYT1 gene

KW - Dystonia

KW - Mutation

KW - Parkinsonian disorders

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U2 - 10.1016/j.parkreldis.2005.08.002

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DYT1 mutation in a cohort of Taiwanese primary dystonias

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Keywords

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