N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation.
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.
Mayeux
Véronique
V
Equipe clinique et génétique des maladies du motoneurone U336, Institut de Biologie, Montpellier, France.
Corcia
Philippe
P
Besson
Gérard
G
Jafari-Schluep
Hélène-Farnase
HF
Briolotti
Valérie
V
Camu
William
W
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
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1