A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis.

@article{Mancuso2002ASF,
  title={A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis.},
  author={M Mancuso and Massimiliano Filosto and Ali Safavi Naini and A. Rocchi and Alberto Del Corona and Ferdinando Sartucci and Gabriele Siciliano and L. Murri},
  journal={Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases},
  year={2002},
  volume={3 4},
  pages={
          215-8
        }
}
The Aspartate-90-Alanine (D90A) mutation on SOD-1 gene, the only known change causing recessive familial amyotrophic lateral sclerosis (FALS), is associated with a uniform phenotype characterized by slowly ascending paresis and long survival. Originally reported in Scandinavian cases, it has also been detected in patients from other countries. A common haplotype, probably of Scandinavian origin, has been demonstrated in D90A recessive pedigrees. In this study we screened the SOD-1 gene for the… CONTINUE READING