Published online before print August 23, 2006, doi:10.1212/01.wnl.0000233830.85206.1e)

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NEUROLOGY 2006;67:1147-1150
© 2006 American Academy of Neurology

SMN1 gene, but not SMN2, is a risk factor for sporadic ALS

P. Corcia, MD, PhD, W. Camu, MD, PhD, J. -M. Halimi, MD, PhD, P. Vourc'h, PhD, C. Antar, S. Vedrine, MSc, B. Giraudeau, PhD, B. de Toffol, MD, PhD, C. R. Andres, MD, PhD for The French ALS Study Group^*

From INSERM U619 (P.C., P.V., C.A., S.V., C.R.A.), Tours; Université François-Rabelais, Tours; ALS Center (P.C., B.d.T.), Department of Neurology, CHRU, Tours; ALS Center (W.C.), Hôpital Gui de Chauliac, CHU de Montpellier; and Centre d'Investigation Clinique (J.M.H., B.G.), INSERM 202, CHRU, Tours, France.

Address correspondence and reprint requests to Dr. P. Corcia, INSERM U619, Faculté de Médecine, 10, Boulevard Tonnellé, 37044 Tours CEDEX1, France; e-mail: corcia{at}med.univ-tours.fr

Background: SMN1 gene deletions cause spinal muscular atrophy, and SMN2 gene deletions have been associated with sporadic lower motor neuron diseases.

Objectives: To study the frequency of abnormal SMN1 gene copy numbers and to determine whether SMN2 gene modulates the risk of amyotrophic lateral sclerosis (ALS) or the duration of evolution.

Method: The authors studied SMN1 and SMN2 genes in 600 patients with sporadic ALS and 621 controls using a quantitative PCR method.

Results: The authors found an association of ALS with an abnormal copy number (one or three copies) of SMN1 gene (p < 0.0001) with an OR of 2.8 (1.8 to 4.4, 95% CI). There was no association with SMN2 copy numbers and no effect of SMN2 copies on the duration of evolution in ALS independently of SMN1 copy number.

Conclusion: Abnormal SMN1 gene copy numbers are a genetic risk factor in sporadic amyotrophic lateral sclerosis. There was no modulator effect of the SMN2 gene.

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This article was previously published in electronic format as an Expedited E-Pub on August 23, 2006, at www.neurology.org.

*Members of The French ALS Study Group are listed in the Appendix.

Supported by the Association pour la Recherche sur la Sclérose Latérale Amyotrophique (ARS), the Association Française contre la Myopathie (AFM), and the Municipality of La Membrolle sur Choisille.

Disclosure: The authors report no conflicts of interest.

Received November 10, 2005. Accepted in final form June 1, 2006.

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