title: A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course.
abstract: The frequency of SOD1 mutations differs among populations: in Italy they account for 13.6% of familial ALS and 0.7% of sporadic cases. We describe an apparently sporadic Italian ALS patient, carrying a novel p.E121G heterozygous missense mutation of SOD1, with a 14-year disease course and a prevalent lower motor neuron phenotype, which are not uncommon among SOD1 mutations carriers. To our knowledge, no other mutation of codon 121 of SOD1 has ever been reported. Three in silico models suggest a deleterious effect of the p.E121G mutation. Nevertheless, further studies are necessary to confirm its pathogenic role and to evaluate eventual genotype-phenotype correlations.
authors.affiliation: ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Torino , Turin.
authors.forename: Antonio
authors.initials: A
authors.lastname: Canosa
authors.forename: Andrea
authors.initials: A
authors.lastname: Calvo
authors.forename: Cristina
authors.initials: C
authors.lastname: Moglia
authors.forename: Marco
authors.initials: M
authors.lastname: Barberis
authors.forename: Maura
authors.initials: M
authors.lastname: Brunetti
authors.forename: Stefania
authors.initials: S
authors.lastname: Cammarosano
authors.forename: Umberto
authors.initials: U
authors.lastname: Manera
authors.forename: Antonio
authors.initials: A
authors.lastname: Ilardi
authors.forename: Gabriella
authors.initials: G
authors.lastname: Restagno
authors.forename: Adriano
authors.initials: A
authors.lastname: Chiò
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1
keywords: Amyotrophic lateral sclerosis; SOD1; p.E121G