title: N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation.
abstract: In a group of 331 sporadic amyotrophic lateral sclerosis (ALS) cases, we identified a new Cu/Zn superoxide dismutase single base substitution, N19S, in two patients. In the first case, seven healthy family members of 15 carried the substitution. Controls (n = 268) and familial ALS index cases (n = 180) were screened and one control subject with N19S was identified. Our data show that, despite a possible role of susceptibility factor for ALS, N19S alone cannot be considered as a direct cause for the disease.
authors.affiliation: Equipe clinique et génétique des maladies du motoneurone U336, Institut de Biologie, Montpellier, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Mayeux
authors.forename: Philippe
authors.initials: P
authors.lastname: Corcia
authors.forename: Gérard
authors.initials: G
authors.lastname: Besson
authors.forename: Hélène-Farnase
authors.initials: HF
authors.lastname: Jafari-Schluep
authors.forename: Valérie
authors.initials: V
authors.lastname: Briolotti
authors.forename: William
authors.initials: W
authors.lastname: Camu
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006580:Genetic Carrier Screening / Q000295:instrumentation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1