A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course

Eleni Georgoulopoulou, Cinzia Gellera, Cinzia Bragato, Patrizia Sola, Annalisa Chiari, Chiara Bernabei, Jessica Mandrioli

Research output: Contribution to journalArticlepeer-review

Abstract

Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial, and the Cu/Zn superoxide dismutase (SOD1) gene mutation accounts for 20% of them. More than 100 SOD1 mutations have been described, some with peculiar phenotypes. Moreover, mutations in the SOD1 gene have been described in apparently sporadic ALS cases. We report a new mutation (D11Y) in the Cu/Zn superoxide dismutase gene in a patient with ALS and an unusually slow disease progression.

Original languageEnglish
Pages (from-to)596-597
Number of pages2
JournalMuscle and Nerve
Volume42
Issue number4
DOIs
Publication statusPublished - 2010

Keywords

  • Amyotrophic lateral sclerosis
  • Atypical natural history
  • D11Y
  • Slow progression
  • SOD1 mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology
  • Medicine(all)

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