title: SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS).
abstract: Mutations in the SOD1 gene exons and exon/intron boundaries were searched in 66 sporadic and 4 familial Italian ALS cases consecutively referred to our centre from different Italian regions. A mutation was found in three sporadic cases (4.5%): a new nonsense mutation in exon 5 (K136X) in a patient with a rapid and severe disease course and two previously described missense nucleotide substitutions (N65S and A95T) in two patients with a mild disease course. Comparison of the clinical characteristics with previously reported patients carrying the same or similar mutations showed a remarkable genotype-phenotype correlation. No association was found with intronic sequence variations by comparing their frequency in the patients and in 181 matched controls.
authors.affiliation: Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy. lucia.corrado@med.unipmn.it
authors.forename: L
authors.initials: L
authors.lastname: Corrado
authors.forename: S
authors.initials: S
authors.lastname: D'Alfonso
authors.forename: L
authors.initials: L
authors.lastname: Bergamaschi
authors.forename: L
authors.initials: L
authors.lastname: Testa
authors.forename: M
authors.initials: M
authors.lastname: Leone
authors.forename: N
authors.initials: N
authors.lastname: Nasuelli
authors.forename: P
authors.initials: P
authors.lastname: Momigliano-Richiardi
authors.forename: L
authors.initials: L
authors.lastname: Mazzini
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012333:RNA, Messenger / Q000235:genetics; D012720:Severity of Illness Index; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism; D000072105:Superoxide Dismutase-1; D044465:White People / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; C000606290:SOD1 protein, human; D004247:DNA; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1