Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: Identification of three novel missense mutations

C. Gellera, B. Castellotti, M. C. Riggio, V. Silani, L. Morandi, D. Testa, C. Casali, F. Taroni, S. Di Donato, M. Zeviani, C. Mariotti

Research output: Contribution to journalArticlepeer-review

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. The majority of the patients are sporadic cases (SALS), while 5-10% of the patients have a family history of ALS (familial ALS or FALS). Mutations in the gene coding for cytoplasmic Cu/Zn superoxide dismutase (SOD1) have been identified in about 20% of FALS cases. We found SOD1-gene mutations in five of 34 unrelated FALS, and in two of 44 SALS patients. Three FALS patients carried the previously described A4V (two cases) and L84F mutations (one case), while two FALS patients carried new missense mutations: a G12R substitution in exon 1, and a F45C substitution in exon 2, respectively. The newly identified mutations were both associated with a slowly progressive disease course. Two SALS patients carried the homozygous D90A and the heterozygous I113T mutation, respectively. In addition, in one SALS patient we identified an A95T amino acid substitution, that is apparently a non-pathogenic SOD1 variant. Our study increases the number of ALS-associated SOD1 gene mutations.

Original languageEnglish
Pages (from-to)404-410
Number of pages7
JournalNeuromuscular Disorders
Volume11
Issue number4
DOIs
Publication statusPublished - 2001

Keywords

  • Familial Amyotrophic lateral sclerosis
  • Motor neuron disease
  • Sporadic Amyotrophic lateral sclerosis, Superoxide dismutase

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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