Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

@article{Rosen1993MutationsIC,
  title={Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis},
  author={Daniel R. Rosen and Teepu Siddique and David Patterson and Denise A. Figlewicz and Peter Sapp and Afif Hentati and Deirdre Donaldson and Jun Goto and Jeremiah P. O'Regan and Han-Xiang Deng and Zohra Rahmani and Aldis Krizus and Diane M McKenna-Yasek and Annarueber Cayabyab and Sandra M. Gaston and Ralph J. Berger and Rudolph E. Tanzi and John J. Halperin and Brian Herzfeldt and Raymond Van den Bergh and Wu-Yen Hung and Thomas Bird and Gang Deng and Donald W. Mulder and C Smyth and Nigel G. Laing and Edwin Soriano and Margaret A. Pericak–Vance and Jonathan Haines and Guy A. Rouleau and James S. Gusella and H. Robert Horvitz and Robert H. Brown},
  journal={Nature},
  year={1993},
  volume={362},
  pages={59-62}
}
AMYOTROPHIC lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord1,2. Its cause is unknown and it is uniformly fatal, typically within five years3. About 10% of cases are inherited as an autosomal dominant trait, with high penetrance after the sixth decade4,5. In most instances, sporadic and autosomal dominant familial ALS (FALS) are clinically similar4,6,7. We have previously shown that in some but not all FALS pedigrees the disease is… CONTINUE READING

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