Heterogeneous distribution of amyotrophic lateral sclerosis patients with SOD-1 gene mutations: Preliminary data on an Italian survey

A. Malaspina, R. Zaman, L. Mazzini, C. Camana, E. Poloni, D. Curti, Mauro Ceroni

Research output: Contribution to journalArticlepeer-review

Abstract

We report the absence of superoxide dismutase (SOD-1) gene mutations in 30 patients with amyotrophic lateral sclerosis (ALS) including individuals with a confirmed family history of ALS (familial ALS/FALS), ALS with an unclear family history (UFALS) and sporadic ALS (SALS). Single strand conformation polymorphism (SSCP) and sequence analysis of the 5 SOD-1 gene exons were undertaken to improve the accuracy of the mutation detection. Our preliminary data appear to diverge from the results of studies by other groups using different populations. We discuss the possible reasons for this disparity and the apparent heterogeneous distribution of ALS with SOD-1 gene mutations among different ethnic groups.

Original languageEnglish
Pages (from-to)201-204
Number of pages4
JournalJournal of the Neurological Sciences
Volume162
Issue number2
DOIs
Publication statusPublished - Jan 15 1999

Keywords

  • Cu-Zn SOD-1 gene
  • Ethnic groups
  • Familial ALS
  • Point mutations
  • Sporadic ALS

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

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