A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.

@article{Rosen1994AFA,
  title={A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.},
  author={Daniel R. Rosen and A. C. Bowling and David Patterson and Ted B Usdin and Peter Sapp and {\'E}va Mezey and Diane M. McKenna-Yasek and J.Kevin O'Regan and Zohra Rahmani and Robert Ferrante},
  journal={Human molecular genetics},
  year={1994},
  volume={3 6},
  pages={981-7}
}
Familial amyotrophic lateral sclerosis (FALS), a degenerative disorder of motor neurons, is associated with mutations in the Cu/Zn superoxide dismutase gene SOD1 in some affected families. We confirm a recently reported ala4-->val mutation in exon 1 of the SOD1 gene and report that this mutation is both the most commonly detected of all SOD1 mutations and among the most clinically severe. By comparison with our other FALS families, the exon 1 mutation is associated with reduced survival time… CONTINUE READING