A SOD1 gene mutation in a patient with slowly progressing familial ALS

S. Penco, A. Schenone, D. Bordo, M. Bolognesi, M. Abbruzzese, O. Bugiani, F. Ajmar, C. Garre

Research output: Contribution to journalArticlepeer-review

Abstract

We report a new missense mutation (Gly12Ala) in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene in a 67-year-old patient with familial ALS (FALS). The clinical course showed an unusually slow progression. The enzymatic activity of the mutated SOD1 was 80% of normal. At the molecular level, the Gly12Ala mutation occurs in a region outside the active site and may lead to local distortion strain in the protein structure.

Original languageEnglish
Pages (from-to)404-406
Number of pages3
JournalNeurology
Volume53
Issue number2
Publication statusPublished - Jul 22 1999

ASJC Scopus subject areas

  • Neuroscience(all)

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