title: Heterogeneous distribution of amyotrophic lateral sclerosis patients with SOD-1 gene mutations: preliminary data on an Italian survey.
abstract: We report the absence of superoxide dismutase (SOD-1) gene mutations in 30 patients with amyotrophic lateral sclerosis (ALS) including individuals with a confirmed family history of ALS (familial ALS/FALS), ALS with an unclear family history (UFALS) and sporadic ALS (SALS). Single strand conformation polymorphism (SSCP) and sequence analysis of the 5 SOD-1 gene exons were undertaken to improve the accuracy of the mutation detection. Our preliminary data appear to diverge from the results of studies by other groups using different populations. We discuss the possible reasons for this disparity and the apparent heterogeneous distribution of ALS with SOD-1 gene mutations among different ethnic groups.
authors: Institute of Neurology, Foundation Casimiro Mondino, Laboratory of Neurogenetics, University of Pavia, Italy. rabc035@s1.cxwms.ac.uk
authors: A
authors: A
authors: Malaspina
authors: R
authors: R
authors: Zaman
authors: L
authors: L
authors: Mazzini
authors: C
authors: C
authors: Camana
authors: E
authors: E
authors: Poloni
authors: D
authors: D
authors: Curti
authors: M
authors: M
authors: Ceroni
mesh_terms: D000328:Adult; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D018740:Genetic Heterogeneity; D006306:Health Surveys; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1