Literature DB >> 15277639

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

E K Tan1, Y Zhao, K Y Puong, H Y Law, L L Chan, K Yew, C Tan, H Shen, V R Chandran, M L Teoh, Y Yih, R Pavanni, M C Wong, I S Ng.   

Abstract

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.

Entities:  

Mesh:

Substances:

Year:  2004        PMID: 15277639     DOI: 10.1212/01.wnl.0000130199.57181.7b

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  17 in total

1.  Expanded FMR1 alleles are rare in idiopathic Parkinson's disease.

Authors:  E K Tan; Y Zhao; K Y Puong; H Y Law; L L Chan; K Yew; H Shen; V R Chandran; Y Yuen; R Pavanni; M C Wong; I S Ng
Journal:  Neurogenetics       Date:  2005-02       Impact factor: 2.660

Review 2.  Epidemiological evidence on multiple system atrophy.

Authors:  N Vanacore
Journal:  J Neural Transm (Vienna)       Date:  2005-12       Impact factor: 3.575

3.  Size bias of fragile X premutation alleles in late-onset movement disorders.

Authors:  Sebastien Jacquemont; Maureen A Leehey; Randi J Hagerman; Laurel A Beckett; Paul J Hagerman
Journal:  J Med Genet       Date:  2006-05-24       Impact factor: 6.318

Review 4.  Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.

Authors:  Erin E Robertson; Deborah A Hall; Andrew R McAsey; Joan A O'Keefe
Journal:  Clin Neuropsychol       Date:  2016-08       Impact factor: 3.535

5.  Daytime sleepiness and nighttime sleep quality across the full spectrum of cognitive presentations in essential tremor.

Authors:  Brittany Rohl; Kathleen Collins; Sarah Morgan; Stephanie Cosentino; Edward D Huey; Elan D Louis
Journal:  J Neurol Sci       Date:  2016-10-08       Impact factor: 3.181

Review 6.  FXTAS: a progressive neurologic syndrome associated with Fragile X premutation.

Authors:  Rob Willemsen; Edwin Mientjes; Ben A Oostra
Journal:  Curr Neurol Neurosci Rep       Date:  2005-09       Impact factor: 5.081

7.  Genetic analysis of FMR1 repeat expansion in essential tremor.

Authors:  L N Clark; X Ye; X Liu; E D Louis
Journal:  Neurosci Lett       Date:  2015-03-18       Impact factor: 3.046

8.  Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.

Authors:  Atefeh Entezari; Mahmoud Shekari Khaniani; Tayyeb Bahrami; Sima Mansoori Derakhshan; Hossein Darvish
Journal:  Neurol Sci       Date:  2016-10-01       Impact factor: 3.307

Review 9.  Unstable mutations in the FMR1 gene and the phenotypes.

Authors:  Danuta Loesch; Randi Hagerman
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

10.  Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.

Authors:  D Z Loesch; M S Khaniani; H R Slater; J P Rubio; Q M Bui; K Kotschet; W D'Souza; A Venn; P Kalitsis; A K H Choo; T Burgess; L Johnson; A Evans; M Horne
Journal:  Clin Genet       Date:  2009-09-30       Impact factor: 4.438

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.