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Identification of Six Novel SOD1 Gene Mutations in Familial Amyotrophic Lateral Sclerosis

  • Y. Boukaftane (a1), J. Khoris (a1), B. Moulard (a2), F. Salachas (a3), V. Meininger (a3), A. Malafosse (a4), W. Camu (a5) and G.A. Rouleau (a1)...

Abstract:

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the premature death of motor neurons. In approximately 10% of the cases the disease is inherited as autosomal dominant trait (FALS). It has been found that mutations in the Cu/Zn superoxide dismutase gene (SODl) are responsible for approximately 15% of FALS kindreds. We screened affected individuals from 70 unrelated FALS kindreds and identified 10 mutations, 6 of which are novel. Surprisingly, we have found a mutation in exon 3, which includes most of the active site loop and Zn2+ binding sites, a region where no previous SOD1 mutations have been found. Our data increase the number of different SODl mutations causing FALS to 55, a significant fraction of the 154 amino acids of this relatively small protein.

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Copyright

Corresponding author

Rm L7 224, Department of Neurology, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec, Canada, H3G 1A4

References

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Identification of Six Novel SOD1 Gene Mutations in Familial Amyotrophic Lateral Sclerosis

  • Y. Boukaftane (a1), J. Khoris (a1), B. Moulard (a2), F. Salachas (a3), V. Meininger (a3), A. Malafosse (a4), W. Camu (a5) and G.A. Rouleau (a1)...

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