Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
QUICK SEARCH:   [advanced]


     

Published online before print August 23, 2006, doi:10.1212/01.wnl.0000233830.85206.1e)
This Article
Right arrow Full Text (Rapid PDF)
Right arrow Korean Translation
Right arrow All Versions of this Article:
01.wnl.0000233830.85206.1ev1
67/7/1147    most recent
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Corcia, P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Corcia, P.
Received November 10, 2005
Accepted June 1, 2006

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.


* To whom correspondence should be addressed. E-mail: corcia{at}med.univ-tours.fr.

Abstract-- 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.




This article has been cited by other articles:


Home page
 Arch NeurolHome page
A. Paubel, J. Violette, M. Amy, J. Praline, V. Meininger, W. Camu, P. Corcia, C. R. Andres, P. Vourc'h, and for the French Amyotrophic Lateral Sclerosis (ALS)
Mutations of the ANG Gene in French Patients With Sporadic Amyotrophic Lateral Sclerosis
Arch Neurol, October 1, 2008; 65(10): 1333 - 1336.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J.C. Schymick, K. Talbot, and B.J. Traynor
Genetics of sporadic amyotrophic lateral sclerosis
Hum. Mol. Genet., October 15, 2007; 16(R2): R233 - R242.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
D. Kasperaviciute, M. E. Weale, K. V. Shianna, G. T. Banks, C. L. Simpson, V. K. Hansen, M. R. Turner, C. E. Shaw, A. Al-Chalabi, H. S. Pall, et al.
Large-scale pathways-based association study in amyotrophic lateral sclerosis
Brain, September 1, 2007; 130(9): 2292 - 2301.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
Copyright © 2006 by AAN Enterprises, Inc.