title: Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis.
abstract: We performed a genetic analysis of the Cu/Zn superoxide dismutase gene (SOD1) in Spanish patients with sporadic or familial amyotrophic lateral sclerosis (ALS). We found mutations in 2 of 11 families (18%) with ALS. In addition, 1 of the 87 sporadic ALS patients studied harbored a mutation in the same gene. We identified G37R in exon 2 of the SOD1 gene in 1 family. Another patient, with sporadic ALS, showed a novel N65S in exon 3. In addition, we found a novel I112M in exon 4 in another family. Our data highlight the genetic heterogeneity of patients with ALS harboring mutations in the SOD1 gene and confirm that families with autosomal dominant inheritance of the trait, regardless of their ethnic background, are more likely to carry mutations in such a gene.
authors.affiliation: Centro de Investigación, Hospital Universitario 12 de Octubre, Avda de Córdoba s/n, 28041 Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: García-Redondo
authors.forename: F
authors.initials: F
authors.lastname: Bustos
authors.forename: B
authors.initials: B
authors.lastname: Juan Y Seva
authors.forename: P
authors.initials: P
authors.lastname: Del Hoyo
authors.forename: S
authors.initials: S
authors.lastname: Jiménez
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: M A
authors.initials: MA
authors.lastname: Martín
authors.forename: J C
authors.initials: JC
authors.lastname: Rubio
authors.forename: F
authors.initials: F
authors.lastname: Cañadillas
authors.forename: J
authors.initials: J
authors.lastname: Arenas
authors.forename: J
authors.initials: J
authors.lastname: Esteban
mesh_terms: D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D013030:Spain; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1