title: D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation.
abstract: We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Del Grande
authors.forename: A
authors.initials: A
authors.lastname: Conte
authors.forename: S
authors.initials: S
authors.lastname: Lattante
authors.forename: M
authors.initials: M
authors.lastname: Luigetti
authors.forename: G
authors.initials: G
authors.lastname: Marangi
authors.forename: M
authors.initials: M
authors.lastname: Zollino
authors.forename: F
authors.initials: F
authors.lastname: Madia
authors.forename: G
authors.initials: G
authors.lastname: Bisogni
authors.forename: M
authors.initials: M
authors.lastname: Sabatelli
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000235:genetics*; D001224:Aspartic Acid / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D014443:Tyrosine / Q000235:genetics
chemical_list: C000606290:SOD1 protein, human; D001224:Aspartic Acid; D014443:Tyrosine; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1