title: Genetics of ALS in Italian families.
abstract: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. The majority of the patients are sporadic cases (SALS), while 10-15% of patients has a family history of ALS (familial ALS or FALS). Mutations in the gene coding for cytoplasmic Cu/Zn superoxide dismutase (SOD1) have been identified in 20% of FALS. We found SOD1-gene mutations in 7 of 36 unrelated FALS and in 3 of 48 SALS patients. Four FALS patients carried previously described mutations, the A4V (2 cases), the L84F mutations (1 case), and the G93D (1 case), while three FALS patients carried new missense mutations: the G12R mutation, the F45C mutation and the V47F mutation, respectively. Two SALS patients carried previously reported mutations: the homozygous D90A and the heterozygous I113T mutation, respectively. In addition, in one SALS patient we identified an apparently non-pathogenic SOD1 variant: the A95T mutation. Our study contributes to expand the number of ALS-associated SOD1 gene mutations.
authors.affiliation: Division of Biochemistry and Genetics, National Neurological Institute-IRCCS, Carlo Besta, Milan, Italy. gellera@istituto-besta.it
authors.forename: C
authors.initials: C
authors.lastname: Gellera
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1