Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

Lisa Wang, Jan O Aasly, Grazia Annesi, Soraya Bardien, Maria Bozi, Alexis Brice, Jonathan Carr, Sun J Chung, Carl Clarke, David Crosiers, Angela Deutschländer, Gertrud Eckstein, Matthew J Farrer, Stefano Goldwurm, Gaetan Garraux, Georgios M Hadjigeorgiou, Andrew A Hicks, Nobutaka Hattori, Christine Klein, Beom JeonYun J Kim, Suzanne Lesage, Juei-Jueng Lin, Timothy Lynch, Peter Lichtner, Anthony E Lang, Vincent Mok, Barbara Jasinska-Myga, George D Mellick, Karen E Morrison, Grzegorz Opala, Lasse Pihlstrøm, Peter P Pramstaller, Sung S Park, Aldo Quattrone, Ekaterina Rogaeva, Owen A Ross, Leonidas Stefanis, Joanne D Stockton, Peter A Silburn, Jessie Theuns, Eng K Tan, Hiroyuki Tomiyama, Mathias Toft, Christine Van Broeckhoven, Ryan J Uitti, Karin Wirdefeldt, Zbigniew Wszolek, Georgia Xiromerisiou, Kuo-Chu Yueh, Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium

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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.

Original languageEnglish
Pages (from-to)1283-1292
Early online date9 Sept 2015
Publication statusPublished - 13 Oct 2015

Bibliographical note

© 2015 American Academy of Neurology.


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