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Published online before print September 9, 2009, doi:10.1212/WNL.0b013e3181bbfeef)
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Received March 17, 2009
Accepted July 17, 2009

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), and 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


* To whom correspondence should be addressed. E-mail: 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.


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K. Talbot
Another gene for ALS: Mutations in sporadic cases and the rare variant hypothesis
Neurology, October 13, 2009; 73(15): 1172 - 1173.
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