Journal article
Frequency Of C9Orf72 Repeat Expansions In Amyotrophic Lateral Sclerosis: A Belgian Cohort Study
S Debray, V Race, V Crabbé, S Herdewyn, G Matthijs, A Goris, B Dubois, V Thijs, W Robberecht, P Van Damme
Neurobiology of Aging | ELSEVIER SCIENCE INC | Published : 2013
Abstract
We determined the frequency of C9orf72 repeat expansions in a large cohort of Belgian patients with familial (fALS) and sporadic (sALS) amyotrophic lateral sclerosis (ALS). In total, 119 patients with fALS from 62 kindreds, 471 patients with sALS, and 384 control subjects were included. A C9orf72 repeat expansion was found in 32 of 62 fALS pedigrees (51.6%), in 45 of 471 patients with sALS (9.6%), but in none of the control subjects. Compared with fALS of unknown etiology or fALS caused by mutations in other ALS-causing genes, C9orf72 repeat expansion carriers had a later age at onset (57.3 vs. 51.4 years; p= 0.0061), a higher proportion of bulbar onset (31.9% vs. 12.5%, p < 0.0001), and a r..
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Awarded by Belgian Federal Science Policy Office
Funding Acknowledgements
This work was supported by the University of Leuven (GOA 11/014) and the Belgian government (Interuniversity Attraction Poles, program P7/16 of the Belgian Federal Science Policy Office), and the European Community's Health Seventh Framework Programme (FP7/2007-2013 [259867]). P. V. D., B. D., and V. T. hold a clinical investigatorship of FWO-Vlaanderen. A. G. and B. D. are supported by the Research Fund KU Leuven (OT/11/087). W. R. is supported through the E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders.