The G93C Mutation in Superoxide Dismutase 1

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal degenerative disease of motor neurons. In most patients, it is sporadic (SALS) and its cause unknown. In 10% of patients ALS is familial (FALS), and 20% of FALS is caused by mutations in the superoxide dismutase 1 gene (SOD1).¹ Some of these mutations are associated with a faster or slower clinical course² or with predominant lower motor neuron involvement.³ However, for most of these mutations little is known about their clinicopathologic correlates.