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Neurology. 2006 Oct 10;67(7):1147-50. Epub 2006 Aug 23.

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

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  • 1INSERM U619, Faculté de Médecine, Tours, France. corcia@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.

PMID:
16931506
[PubMed - indexed for MEDLINE]
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