title: An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: case report of an affected family member.
abstract: We report the first Italian kindred with Familial Amyotrophic Lateral Sclerosis (FALS) due to c.149T>C mutation in the exon 5 of superoxide dismutase-1 (SOD1) gene. The proband was a 49-year-old woman who came to our observation because of an history of progressive limbs weakness and gait impairment. She belonged to a family of 24 affected members. The prevalent phenotype of the affected members was characterized by slowly progressive spinal impairment with proximal distribution of weakness, and bulbar involvement in advanced stages. We briefly reviewed the few previous reports about the same SOD1 mutation and discussed the hypothesis that structural instability of the mutant codon 149 protein may underlie some toxic effects significantly involved in FALS pathogenesis.
authors.affiliation: Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, Second University of Naples, Naples, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Trojsi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Piccirillo
authors.forename: Cinzia
authors.initials: C
authors.lastname: Femiano
authors.forename: Raffaele
authors.initials: R
authors.lastname: Damiano
authors.forename: Maria
authors.initials: M
authors.lastname: Rosaria Monsurrò
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D004247:DNA; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1
keywords: Familial ALS (FALS); mutation; superoxide dismutase 1 (SOD1)