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Published online before print September 9, 2009, doi:10.1212/WNL.0b013e3181bbfeef)
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NEUROLOGY 2009;73:1176-1179
© 2009 American Academy of Neurology

Mutations in FUS cause FALS and SALS in French and French Canadian populations

V. V. Belzil, MSc, P. N. Valdmanis, PhD, P. A. Dion, PhD, H. Daoud, PhD, E. Kabashi, PhD, A. Noreau, MSc, J. Gauthier, PhD for the S2D team, P. Hince, BSc, A. Desjarlais, BSc, J. -P. Bouchard, MD, L. Lacomblez, F. Salachas, MD, P. -F. Pradat, MD, W. Camu, MD, V. Meininger, MD, N. Dupré, MD, FRCP(C), G. A. Rouleau, MD, PhD

From the Centre for Excellence in Neuromics (V.V.B., P.N.V., P.A.D., H.D., E.K., A.N., J.G., P.H., A.D., G.A.R.), University of Montreal, the Centre Hospitalier de l’Université de Montréal (CHUM) and Ste-Justine Hospital, Montreal; Faculty of Medicine (J.-P.B., N.D.), Laval University, Centre Hospitalier Affilié Universitaire de Québec–Enfant-Jésus Hospital, Quebec, Canada; Fédération des maladies du système nerveux (L.L., F.S., P.-F.P., V.M.), Division Paul Castaigne, Hôpital de la Salpêtrière, Paris; and Unité de Neurologie Comportementale et Dégénérative (W.C.), Institute of Biology, Montpellier, France.

Address correspondence and reprint requests to Dr. Guy A. Rouleau, CHUM Research Centre, Notre-Dame Hospital, 1560 Sherbrooke E., Y-3633, Montreal, Quebec, Canada, H2L 4M1 guy.rouleau{at}umontreal.ca

Background: The identification of mutations in the TARDBP and more recently the identification of mutations in the FUS gene as the cause of amyotrophic lateral sclerosis (ALS) is providing the field with new insight about the mechanisms involved in this severe neurodegenerative disease.

Methods: To extend these recent genetic reports, we screened the entire gene in a cohort of 200 patients with ALS. An additional 285 patients with sporadic ALS were screened for variants in exon 15 for which mutations were previously reported.

Results: In total, 3 different mutations were identified in 4 different patients, including 1 3-bp deletion in exon 3 of a patient with sporadic ALS and 2 missense mutations in exon 15 of 1 patient with familial ALS and 2 patients with sporadic ALS.

Conclusions: Our study identified sporadic patients with mutations in the FUS gene. The accumulation and description of different genes and mutations helps to develop a more comprehensive picture of the genetic events underlying amyotrophic lateral sclerosis.

Abbreviations: ALS = amyotrophic lateral sclerosis; FALS = familial amyotrophic lateral sclerosis; FTD = frontotemporal dementia; SALS = sporadic amyotrophic lateral sclerosis.

Editorial, page 1172

See also page 1180

Supplemental data at www.neurology.org

e-Pub ahead of print on September 9, 2009, at www.neurology.org.

*These authors contributed equally.

Supported by the Association pour la Recherche sur la Sclérose Latérale Amyotrophique (ARS), the Association Française contre les Myopathies (AFM), the French Group on MND, and Genethon for DNA extraction and cell lines. N.D., V.V.B., and G.A.R. are supported by the Canadian Institutes of Health Research, E.K. by ALS Canada, and P.N.V. by the Fonds de Recherche en Santé Québec (FRSQ).

Disclosure: Author disclosures are provided at the end of the article.

Received March 17, 2009. Accepted in final form July 17, 2009.


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