title: Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees.
abstract: We investigated the segregation of the copper chaperone for the superoxide dismutase (CCS) gene in two Italian families with amyotrophic lateral sclerosis lacking the mutations in superoxide dismutase 1 gene. We analyzed a total of 56 individuals; six people were affected. Diagnoses were made using the El Escorial criteria. The results of our study provide no evidence of a linkage between markers flanking the CCS gene and familial amyotrophic lateral sclerosis (FALS) in these FALS kindreds.
authors.affiliation: Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, 6 Queen's Park Crescent West, Toronto, Ontario, Canada. antonioorlacchio@yahoo.com
authors.forename: A
authors.initials: A
authors.lastname: Orlacchio
authors.forename: T
authors.initials: T
authors.lastname: Kawarai
authors.forename: A M
authors.initials: AM
authors.lastname: Massaro
authors.forename: P H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: S
authors.initials: S
authors.lastname: Sorbi
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C114678:CCS protein, human; D018832:Molecular Chaperones; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1