Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia.

  title={Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia.},
  author={Peter Munch Andersen and Peter Nilsson and Mika Ker{\"a}nen and Lars Forsgren and Jarl V. H{\"a}gglund and Merete Karlsborg and L. O. Ronnevi and Ole Gredal and Stefan L Marklund},
  journal={Brain : a journal of neurology},
  volume={120 ( Pt 10)},
Four-hundred and fifty-one blood samples from Scandinavian patients with motor neuron disease were analysed for mutations in the CuZn-superoxide dismutase gene. Forty-one (9.6%) of the 427 patients with the amyotrophic lateral sclerosis (ALS) form of the disease were found to have a disease-associated mutation, and 14 of these patients were apparently sporadic cases. A mutation was found in 12 of the 51 families with recognized familial ALS. The five different mutations found (Ala4Val, Val14Gly… CONTINUE READING


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