title: Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
abstract: Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In sporadic cases (SALS), de novo mutations in the SOD1 gene have occasionally been observed. All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A. To date, in Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in a homozygous state. We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy. fl.conforti@isn.cnr.it
authors.forename: Francesca
authors.initials: F
authors.lastname: Luisa Conforti
authors.forename: Teresa
authors.initials: T
authors.lastname: Sprovieri
authors.forename: Rosalucia
authors.initials: R
authors.lastname: Mazzei
authors.forename: Alessandra
authors.initials: A
authors.lastname: Patitucci
authors.forename: Carmine
authors.initials: C
authors.lastname: Ungaro
authors.forename: Stefano
authors.initials: S
authors.lastname: Zoccolella
authors.forename: Angela
authors.initials: A
authors.lastname: Magariello
authors.forename: Vincenzo La
authors.initials: VL
authors.lastname: Bella
authors.forename: Alessandro
authors.initials: A
authors.lastname: Tessitore
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Tedeschi
authors.forename: Isa Laura
authors.initials: IL
authors.lastname: Simone
authors.forename: Giovanni
authors.initials: G
authors.lastname: Majorana
authors.forename: Paola
authors.initials: P
authors.lastname: Valentino
authors.forename: Luigi
authors.initials: L
authors.lastname: Citrigno
authors.forename: Annalia
authors.initials: A
authors.lastname: Gabriele
authors.forename: Francesco
authors.initials: F
authors.lastname: Bono
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Monsurrò
authors.forename: Maria
authors.initials: M
authors.lastname: Muglia
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1