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 journalArticle

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

Fingerprint

Amyotrophic Lateral Sclerosis
Mutation
Genes
Disease Progression
Phenotype
Amyotrophic lateral sclerosis 1
Superoxide Dismutase-1

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)

Cite this

A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course. / Georgoulopoulou, Eleni; Gellera, Cinzia; Bragato, Cinzia; Sola, Patrizia; Chiari, Annalisa; Bernabei, Chiara; Mandrioli, Jessica.

In: Muscle and Nerve, Vol. 42, No. 4, 2010, p. 596-597.

Research output: Contribution to journalArticle

Georgoulopoulou, E, Gellera, C, Bragato, C, Sola, P, Chiari, A, Bernabei, C & Mandrioli, J 2010, 'A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course', Muscle and Nerve, vol. 42, no. 4, pp. 596-597. https://doi.org/10.1002/mus.21750
Georgoulopoulou, Eleni ; Gellera, Cinzia ; Bragato, Cinzia ; Sola, Patrizia ; Chiari, Annalisa ; Bernabei, Chiara ; Mandrioli, Jessica. / A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course. In: Muscle and Nerve. 2010 ; Vol. 42, No. 4. pp. 596-597.
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AU - Bernabei, Chiara

AU - Mandrioli, Jessica

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