Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort

被引:54
作者
Tan, EK
Zhao, Y
Puong, KY
Law, HY
Chan, LL
Yew, K
Tan, C
Shen, H
Chandran, VR
Teoh, ML
Yih, Y
Pavanni, R
Wong, MC
Ng, IS
机构
[1] Singapore Gen Hosp, Natl Inst Neurosci, Dept Neurol, Singapore 169608, Singapore
[2] Singapore Gen Hosp, Natl Inst Neurosci, Dept Clin Res, Singapore 169608, Singapore
[3] Singapore Gen Hosp, Natl Inst Neurosci, Dept Diagnost Radiol, Singapore 169608, Singapore
[4] Singapore Gen Hosp, Natl Inst Neurosci, Dept Hlth Screening, Singapore 169608, Singapore
[5] SingHlth Res, Singapore, Singapore
[6] KK Women & Children Hosp, Singapore, Singapore
关键词
D O I
10.1212/01.WNL.0000130199.57181.7B
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Among 367 subjects, the authors analyzed 167 patients with essential tremor, sporadic progressive cerebellar ataxia, multiple-system atrophy, and atypical parkinsonism and 200 healthy control subjects for FMR1 premutation alleles. None of the subjects carried alleles within the premutation range. These findings suggest that in the absence of other supportive clinical or imaging features, the cost-effectiveness of routine fragile X tremor/ataxia syndrome screening in this Asian cohort with movement disorders was low.
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页码:362 / 363
页数:2
相关论文
共 10 条
[1]   FMR1 and the fragile X syndrome:: Human genome epidemiology review [J].
Crawford, DC ;
Acuña, JM ;
Sherman, SL .
GENETICS IN MEDICINE, 2001, 3 (05) :359-371
[2]   Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers [J].
Greco, C. M. ;
Hagerman, R. J. ;
Tassone, F. ;
Chudley, A. E. ;
Del Bigio, M. R. ;
Jacquemont, S. ;
Leehey, M. ;
Hagerman, P. J. .
BRAIN, 2002, 125 :1760-1771
[3]   Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X [J].
Hagerman, RJ ;
Leehey, M ;
Heinrichs, W ;
Tassone, F ;
Wilson, R ;
Hills, J ;
Grigsby, J ;
Gage, B ;
Hagerman, PJ .
NEUROLOGY, 2001, 57 (01) :127-130
[4]  
Huang Kuo-Feng, 2003, J Chin Med Assoc, V66, P204
[5]   Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates [J].
Jacquemont, S ;
Hagerman, RJ ;
Leehey, M ;
Grigsby, J ;
Zhang, L ;
Brunberg, JA ;
Greco, C ;
Des Portes, V ;
Jardini, T ;
Levine, R ;
Berry-Kravis, E ;
Brown, WT ;
Schaeffer, S ;
Kissel, J ;
Tassone, F ;
Hagerman, PJ .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (04) :869-878
[6]   The fragile X premutation presenting as essential tremor [J].
Leehey, MA ;
Munhoz, RP ;
Lang, AE ;
Brunberg, JA ;
Grigsby, J ;
Greco, C ;
Jacquemont, S ;
Tassone, F ;
Lozano, AM ;
Hagerman, PJ ;
Hagerman, RJ .
ARCHIVES OF NEUROLOGY, 2003, 60 (01) :117-121
[7]   Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia [J].
Macpherson, J ;
Waghorn, A ;
Hammans, S ;
Jacobs, P .
HUMAN GENETICS, 2003, 112 (5-6) :619-620
[8]   Elevated levels of FMR1 mRNA in carrier males:: A new mechanism of involvement in the fragile-X syndrome [J].
Tassone, F ;
Hagerman, RJ ;
Taylor, AK ;
Gane, LW ;
Godfrey, TE ;
Hagerman, PJ .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (01) :6-15
[9]   Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel [J].
Toledano-Alhadef, H ;
Basel-Vanagaite, L ;
Magal, N ;
Davidov, B ;
Ehrlich, S ;
Drasinover, V ;
Taub, E ;
Halpern, GJ ;
Ginott, N ;
Shohat, M .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (02) :351-360
[10]  
YOON CS, 2000, SINGAPORE PAEDIAT J, V43, P180