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

Neurosci Lett. 2000 May 12;285(2):83-6. doi: 10.1016/s0304-3940(00)01032-6.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amyotrophic Lateral Sclerosis / enzymology
  • Amyotrophic Lateral Sclerosis / genetics*
  • Female
  • Genetic Linkage / genetics*
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Molecular Chaperones / genetics*
  • Pedigree
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase-1

Substances

  • CCS protein, human
  • Molecular Chaperones
  • SOD1 protein, human
  • Superoxide Dismutase
  • Superoxide Dismutase-1