SUPEROXIDE-DISMUTASE MUTATIONS IN AN UNSELECTED COHORT OF SCOTTISH AMYOTROPHIC-LATERAL-SCLEROSIS PATIENTS

Mutations in the Cu/Zn superoxide dismutase (SOD1) gene are responsibl e for some cases of familial amyotrophic lateral sclerosis (ALS). We h ave shown that SOD1 mutations can also occur in apparently sporadic AL S. To establish how often this happens we have undertaken a study of t he prevalence of SOD1 mutations in an unselected cohort of Scottish AL S patients, with both sporadic (n=57) and familial (n=10) disease. Sin gle strand conformation polymorphism analysis was used to scan for new mutations, and selective restriction enzyme digestion to screen for 1 1 of the 20 SOD1 mutations published to date. We detected mutations in five (50%) of the familial ALS patients and also in four (7%) of the sporadic patients. One mutation, ile113thr, seems to be particularly p revalent in the Scottish population since it was detected in a total o f 6/67 (9%) unrelated cases.