DYT1 mutation in a cohort of Taiwanese primary dystonias.
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 (< or = 26 years). We conclude that DYT1 mutation is a minor cause of primary dystonias in a cohort of Taiwanese population.
Lin
Yen-Wen
YW
Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital, Kweishan, Taoyuan, Taiwan.
Chang
Hsiu-Chen
HC
Chou
Yah-Huei Wu
YH
Chen
Rou-Shayn
RS
Hsu
Wen-Chi
WC
Wu
Wen-Shiang
WS
Weng
Yi-Hsin
YH
Lu
Chin-Song
CS
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004247:DNA / Q000235:genetics; D004421:Dystonia / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D015750:Genes, gag / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D013624:Taiwan / Q000453:epidemiology
D018832:Molecular Chaperones; C108175:TOR1A protein, human; D004247:DNA