IDENTIFICATION OF A NOVEL EXON-4 SOD1 MUTATION IN A SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS PATIENT

We have been screening a cohort of 46 sporadic and 10 familial amyotro phic lateral sclerosis patients for mutations in the superoxide dismut ase gene (SOD1) using a combination of SSCP and direct PCR sequencing. A novel missense mutation (Asp101Asn) has been detected in one sporad ic patient and a previously reported mutation has been found in two fa milial cases.