title: A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis.
abstract: The Aspartate-90-Alanine (D90A) mutation on SOD-1 gene, the only known change causing recessive familial amyotrophic lateral sclerosis (FALS), is associated with a uniform phenotype characterized by slowly ascending paresis and long survival. Originally reported in Scandinavian cases, it has also been detected in patients from other countries. A common haplotype, probably of Scandinavian origin, has been demonstrated in D90A recessive pedigrees. In this study we screened the SOD-1 gene for the D90A mutation in 56 Italian patients from north-west Tuscany with sporadic ALS in order to evaluate the occurrence of this mutation and its genotype-phenotype correlation in Italy. We found the homozygous D90A mutation in one patient (1.8%), harboring the classical phenotype related to this mutation. No other mutations were detected in any of the five SOD-1 exons in our group. Our results confirm that recessive D90A mutation is present in Italy and it is associated with the phenotype already described A screening for that mutation, easily made by RFLP, should be made in sporadic ALS patients, especially where clinical investigation indicates its presence.
authors.affiliation: Department of Neurology, Columbia University, College of Physicians and Surgeons, New York, USA. mmancuso@inwind.it
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
authors.forename: Ali
authors.initials: A
authors.lastname: Naini
authors.forename: Anna
authors.initials: A
authors.lastname: Rocchi
authors.forename: Alberto
authors.initials: A
authors.lastname: Del Corona
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Sartucci
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.forename: Luigi
authors.initials: L
authors.lastname: Murri
mesh_terms: D000328:Adult; D000368:Aged; D000409:Alanine / Q000235:genetics*; D019943:Amino Acid Substitution; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001224:Aspartic Acid / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: D017931:DNA Primers; C000606290:SOD1 protein, human; D001224:Aspartic Acid; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; D000409:Alanine