A SOD1 gene mutation in a patient with slowly progressing familial ALS

We report a new missense mutation (Gly12Ala) in exon 1 of the Cu/Zn superox ide dismutase (SOD1) gene in a 67-year-old patient with familial ALS (FALS) . The clinical course showed an unusually slow progression. The enzymatic a ctivity of the mutated SOD1 was 80% of normal. At the molecular level, the Gly12Ala mutation occurs in a region outside the active site and may lead t o local distortion strain in the protein structure.