Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees.
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.
Orlacchio
A
A
Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, 6 Queen's Park Crescent West, Toronto, Ontario, Canada. antonioorlacchio@yahoo.com
Kawarai
T
T
Massaro
A M
AM
St George-Hyslop
P H
PH
Sorbi
S
S
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
C114678:CCS protein, human; D018832:Molecular Chaperones; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1