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

Neuromuscul Disord. 2006 Nov;16(11):800-4. doi: 10.1016/j.nmd.2006.07.004. Epub 2006 Sep 6.


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.

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / metabolism
  • DNA / genetics
  • Disease Progression
  • Exons / genetics
  • Female
  • Genotype
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Pedigree
  • Phenotype
  • RNA, Messenger / genetics
  • Severity of Illness Index
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase / metabolism
  • Superoxide Dismutase-1
  • White People / genetics*


  • RNA, Messenger
  • SOD1 protein, human
  • DNA
  • Superoxide Dismutase
  • Superoxide Dismutase-1