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  • Title: Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.
    Author: Andersen PM, Nilsson P, Ala-Hurula V, Keränen ML, Tarvainen I, Haltia T, Nilsson L, Binzer M, Forsgren L, Marklund SL.
    Journal: Nat Genet; 1995 May; 10(1):61-6. PubMed ID: 7647793.
    Abstract:
    Recent reports have shown heterozygosity for some twenty different mutations in the CuZn-superoxide dismutase (CuZn-SOD) gene in familial amyotrophic lateral sclerosis (FALS), and analysed samples from patients have shown decreased enzymic activity. Here we report homozygosity for an exon 4 mutation, Asp90Ala in fourteen patients among four unrelated ALS families and four apparently sporadic ALS patients from Sweden and Finland. The erythrocyte CuZn-SOD activity is essentially normal. Our findings suggest that this CuZn-SOD mutation causes ALS by a gain of function rather than by loss, and that the Asp90Ala mutation is less detrimental than previously reported mutations.
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