@article{3109868,
    title = "Large-scale assessment of polyglutamine repeat expansions in Parkinson disease",
    author = "Wang, L. and Aasly, J.O. and Annesi, G. and Bardien, S. and Bozi, M. and Brice, A. and Carr, J. and Chung, S.J. and Clarke, C. and Crosiers, D. and Deutschländer, A. and Eckstein, G. and Farrer, M.J. and Goldwurm, S. and Garraux, G. and Hadjigeorgiou, G.M. and Hicks, A.A. and Hattori, N. and Klein, C. and Jeon, B. and Kim, Y.J. and Lesage, S. and Lin, J.-J. and Lynch, T. and Lichtner, P. and Lang, A.E. and Mok, V. and Jasinska-Myga, B. and Mellick, G.D. and Morrison, K.E. and Opala, G. and PihlstrØm, L. and Pramstaller, P.P. and Park, S.S. and Quattrone, A. and Rogaeva, E. and Ross, O.A. and Stefanis, L. and Stockton, J.D. and Silburn, P.A. and Theuns, J. and Tan, E.K. and Tomiyama, H. and Toft, M. and Van Broeckhoven, C. and Uitti, R.J. and Wirdefeldt, K. and Wszolek, Z. and Xiromerisiou, G. and Yueh, K.-C. and Zhao, Y. and Gasser, T. and Maraganore, D.M. and Krüger, R. and Sharma, M.",
    journal = "Functional Neurology",
    year = "2015",
    volume = "85",
    number = "15",
    pages = "1283-1292",
    publisher = "Lippincott Williams and Wilkins",
    doi = "10.1212/WNL.0000000000002016",
    keywords = "polyglutamine;  ataxin;  nerve protein;  nuclear protein;  peptide;  polyglutamine, Article;  Asian;  Caucasian;  cohort analysis;  controlled study;  female;  gene locus;  genetic risk;  human;  idiopathic disease;  major clinical study;  male;  multicenter study;  Parkinson disease;  pathogenesis;  priority journal;  risk assessment;  spinocerebellar degeneration;  trinucleotide repeat;  aged;  gene frequency;  genetic predisposition;  genetics;  metabolism;  middle aged;  Parkinson disease;  phenotype;  risk;  trinucleotide repeat, Aged;  Ataxins;  Female;  Gene Frequency;  Genetic Predisposition to Disease;  Humans;  Male;  Middle Aged;  Nerve Tissue Proteins;  Nuclear Proteins;  Parkinson Disease;  Peptides;  Phenotype;  Risk;  Trinucleotide Repeat Expansion",
    abstract = "Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods: We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3, SCA6, and SCA17 genes. Fixed- and random-effects models were used to estimate the summary risk estimates for the genes. We investigated between-study heterogeneity and heterogeneity between different ethnic populations. Results: We did not observe any definite pathogenic repeat expansions for SCA2, SCA3, SCA6, and SCA17 genes in patients with idiopathic PD from Caucasian and Asian populations. Furthermore, overall analysis did not reveal any significant association between intermediate repeats and PD. The effect estimates (odds ratio) ranged from 0.93 to 1.01 in the overall cohort for the SCA2, SCA3, SCA6, and SCA17 loci. Conclusions: Our study did not support a major role for definite pathogenic repeat expansions in SCA2, SCA3, SCA6, and SCA17 genes for idiopathic PD. Thus, results of this large study do not support diagnostic screening of SCA2, SCA3, SCA6, and SCA17 gene repeats in the common idiopathic form of PD. Likewise, this largest multicentered study performed to date excludes the role of intermediate repeats of these genes as a risk factor for PD. © 2015 American Academy of Neurology."
}