Journal article
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
P Van Damme, JH Veldink, M Van Blitterswijk, A Corveleyn, PWJ Van Vught, V Thijs, B Dubois, G Matthijs, LH Van Den Berg, W Robberecht
Neurology | Published : 2011
Abstract
Objectives: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of motor neurons that results in progressive muscle weakness and limits survival to 2-5 years after disease onset. Intermediate CAG repeat expansions in ataxin 2 (ATXN2), the causative gene of spinocerebellar ataxia type 2 (SCA2), have been implicated in sporadic ALS. We studied ATXN2 in a large cohort of patients with sporadic and familial ALS. Methods: We determined ATXN2 CAG repeat size in 1,948 sporadic and familial ALS cases and 2,002 controls from Belgium and the Netherlands. Results: In controls, the maximal ATXN2 repeat size was 31. In sporadic ALS, a significant amount of longer repeat sizes (32, range 3..
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Awarded by Health Seventh Framework Programme
Awarded by Belgian Federal Science Policy Office
Awarded by University of Leuven
Funding Acknowledgements
Supported by the Health Seventh Framework Programme (FP7/2007-2013, grant agreement no. 259867), the Interuniversity Attraction Poles (IUAP) programme P6/43 of the Belgian Federal Science Policy Office, and the University of Leuven (GOA 11/014 and Methusalem). P.V.D., B.D., and V.T. hold a clinical investigatorship from the FWO-Vlaanderen. W.R. is supported through the E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders, B.D. through the Biogen Idec Chair Translational Research in Multiple Sclerosis and the Bayer Schering Pharma Chair on Fundamental Research regarding the Neuroimmunological Aspects of Multiple Sclerosis. J.H.V. is supported by the Brain Foundation of the Netherlands. L.v.d.B. is supported by the Prinses Beatrix Fonds, Netherlands ALS Foundation, VSB Fonds, and Adessium Foundation. Dr. Van Damme holds a clinical research fellowship from FWO-Vlaanderen. Dr. Veldink has received funding for travel from Baxter International Inc. Dr. van Blitterwijk, Dr. Corveleyn, and Dr. van Vught report no disclosures. Dr. Thijs serves on scientific advisory boards for SYGNIS Pharma AG, Merck & Co., Inc., Shire plc, and Boehringer Ingelheim; has received funding for travel from Shire plc and Boehringer Ingelheim; serves as an Associate Editor for Acta Neurologica Belgica; serves on the speakers' bureaus of Shire plc, Abbott, Pfizer Inc, Boehringer Ingelheim, and Medtronic, Inc.; receives research support from SERVIER, Schering-Plough Corp., SYGNIS Pharma AG, CoAxia, Inc., Medtronic, Inc., Novo Nordisk, Bristol-Myers Squibb, Pfizer Inc, Shire plc, AstraZeneca, ThromboGenics NV, Eli Lilly and Company, sanofi-aventis, Boehringer Ingelheim, Daiichi Sankyo, Asubio Pharmaceuticals, Inc., FWO Flanders, and Vlaams Instituut voor Biotechnologie; and holds stock in Novo Nordisk. Dr. Dubois serves on a scientific advisory board for Biogen Idec; has received funding for travel from Novartis, Merck Serono, Bayer Schering Pharma, sanofi-aventis, and Biogen Idec; and receives research support from Bayer Schering Pharma, Merck Serono, and Biogen Idec. Dr. Matthijs reports no disclosures. Dr. van den Berg serves on the scientific advisory board of ARISLA (the Italian ALS Association); serves as a consultant for and has received funding for travel from Baxter International Inc.; and receives research support from the Prinses Beatrix Fonds, Netherlands ALS Foundation, VSB Fonds, and Adessium Foundation. Dr. Robberecht serves on scientific advisory boards for the T. Latran Foundation, the Packard Center, Motor Neurone Disease Association, UK, and GlaxoSmithKline; serves on the editorial boards of the Journal of Neuropathology and Experimental Neurology and Amyotrophic Lateral Sclerosis; and receives research support from Neuronova, TEVA, Trophos, FWO Flanders, the T. Latran Foundation, Paris (France), and the Packard Center for ALS research (USA).