title: Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis.
abstract: Amyotrophic lateral sclerosis (ALS) is a progressive fatal disorder, which results from the degeneration of motor neurons in the brain and spinal cord. Approximately 20% of the inherited autosomal dominant cases are due to mutations within the gene coding for Cu/Zn superoxide dismutase 1 (SOD1), a cytosolic homodimeric enzyme that catalyzes the dismutation of toxic superoxide anion. We investigated the presence of SOD1 gene mutations and activity alterations in two unrelated families of ALS patients from Elba, an island of central Italy. No mutation in SOD1 exon 1 to 5 and no activity alteration were observed in all members of the two analyzed ALS families (FALS). These data show an apparent heterogeneous distribution of ALS patients with SOD1 gene mutations among different populations and suggest that another genetic locus could be involved in the disease.
authors.affiliation: Department of Neurological and Psychiatric Sciences, University of Florence, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Gestri
authors.forename: C
authors.initials: C
authors.lastname: Cecchi
authors.forename: A
authors.initials: A
authors.lastname: Tedde
authors.forename: S
authors.initials: S
authors.lastname: Latorraca
authors.forename: A
authors.initials: A
authors.lastname: Orlacchio
authors.forename: E
authors.initials: E
authors.lastname: Grassi
authors.forename: A M
authors.initials: AM
authors.lastname: Massaro
authors.forename: G
authors.initials: G
authors.lastname: Liguri
authors.forename: P H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: S
authors.initials: S
authors.lastname: Sorbi
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000706:statistics & numerical data; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1