SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)

L. Corrado, S. D'Alfonso, L. Bergamaschi, L. Testa, M. Leone, N. Nasuelli, P. Momigliano-Richiardi, L. Mazzini

Research output: Contribution to journalArticle

Abstract

Mutations in the SOD1 gene exons and exon/intron boundaries were searched in 66 sporadic and 4 familial Italian ALS cases consecutively referred to our centre from different Italian regions. A mutation was found in three sporadic cases (4.5%): a new nonsense mutation in exon 5 (K136X) in a patient with a rapid and severe disease course and two previously described missense nucleotide substitutions (N65S and A95T) in two patients with a mild disease course. Comparison of the clinical characteristics with previously reported patients carrying the same or similar mutations showed a remarkable genotype-phenotype correlation. No association was found with intronic sequence variations by comparing their frequency in the patients and in 181 matched controls.

Original languageEnglish
Pages (from-to)800-804
Number of pages5
JournalNeuromuscular Disorders
Volume16
Issue number11
DOIs
Publication statusPublished - Nov 2006

Keywords

  • Amyotrophic Lateral Sclerosis
  • Genotype-phenotype correlation
  • SOD1

ASJC Scopus subject areas

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

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  • Cite this

    Corrado, L., D'Alfonso, S., Bergamaschi, L., Testa, L., Leone, M., Nasuelli, N., Momigliano-Richiardi, P., & Mazzini, L. (2006). SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS). Neuromuscular Disorders, 16(11), 800-804. https://doi.org/10.1016/j.nmd.2006.07.004