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

  title={Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis},
  author={D. R. Rosen and T. Siddique and D. Patterson and D. Figlewicz and P. Sapp and A. Hentati and D. Donaldson and J. Goto and J. P. O'Regan and H. Deng and Z. Rahmani and A. Krizus and D. Mckenna-Yasek and A. Cayabyab and S. Gaston and R. Berger and R. Tanzi and J. Halperin and B. Herzfeldt and R. V. D. Bergh and W. Hung and T. Bird and Gang Deng and D. Mulder and C. Smyth and N. G. Laing and E. Soriano and M. Pericak-Vance and J. Haines and G. Rouleau and James S. Gusella and H. Horvitz and R. Brown},
  • D. R. Rosen, T. Siddique, +30 authors R. Brown
  • Published 1993
  • Biology, Medicine
  • Nature
  • 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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    We are collecting blood samples, clinical and family information from ALS (amyotrophic lateral sclerosis) patients and their families to identify causes of ALS and ALS/dementia.  
    ConditionsAmyotrophic Lateral Sclerosis (ALS), Amyotrophic Lateral Sclerosis With Frontotemporal Dementia, Familial Amyotrophic Lateral Sclerosis, (+3 more)
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    Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene
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