Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees

Orlacchio, A.; Kawarai, T.; Massaro, A.M.; St George-Hyslop, P.H.; Sorbi, S.

Neuroscience Letters 285(2): 83-86


ISSN/ISBN: 0304-3940
PMID: 10793232
DOI: 10.1016/s0304-3940(00)01032-6
Accession: 010112561

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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.