Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive fatal disorder, which results from the degeneration of motor neurons in the brain and spinal cord . Approximately 20% of the inherited autosomal dominant cases are due to mu tations within the gene coding for Cu/Zn superoxide dismutase 1 (SOD1), a c ytosolic homodimeric enzyme that catalyzes the dismutation of toxic superox ide anion. We investigated the presence of SOD1 gene mutations and activity alterations in two unrelated families of ALS patients from Elba, an island of central Italy. No mutation in SOD1 exon 1 to 5 and no activity alterati on were observed in all members of the two analyzed ALS families (FALS). Th ese data show an apparent heterogeneous distribution of ALS patients with S OD1 gene mutations among different populations and suggest that another gen etic locus could be involved in the disease. (C) 2000 Elsevier Science Irel and Ltd. All rights reserved.