title: Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis.
abstract: The etiology of amyotrophic lateral sclerosis remains unknown in the majority of cases. Homozygous SMN1 (survival motor neuron) gene deletion causes spinal muscular atrophy, and SMN2 gene deletions are possible risk factors in lower motor neuron disease. We studied SMN1 and SMN2 genes copy numbers in 167 amyotrophic lateral sclerosis patients and in 167 matched controls. We noted that 16% of amyotrophic lateral sclerosis patients had an abnormal copy number of the SMN1 gene (1 or 3 copies), compared with 4% of controls. An abnormal SMN1 gene locus may be a susceptibility factor for amyotrophic lateral sclerosis.
authors.affiliation: INSERM U316, Tours, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Corcia
authors.forename: Véronique
authors.initials: V
authors.lastname: Mayeux-Portas
authors.forename: Jawad
authors.initials: J
authors.lastname: Khoris
authors.forename: Bertrand
authors.initials: B
authors.lastname: de Toffol
authors.forename: Alain
authors.initials: A
authors.lastname: Autret
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Müh
authors.forename: William
authors.initials: W
authors.lastname: Camu
authors.forename: Christian
authors.initials: C
authors.lastname: Andres
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000235:genetics*; D017362:Cyclic AMP Response Element-Binding Protein; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D012307:Risk Factors; D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein