The G93C mutation in superoxide dismutase 1: Clinicopathologic phenotype and prognosis

Abstract

Background: Twenty percent of familial amyotrophic lateral sclerosis (ALS) is caused by mutations in the superoxide dismutase 1 gene (SOD1). Few data exist on their clinicopathologic phenotypes. Objectives: To determine the clinical and pathologic phenotype associated with the G93C mutation in SOD1 and to compare survival in familial ALS related to this mutation with survival in other ALS subgroups. Design: Retrospective study. Setting: Tertiary referral center for neuromuscular disorders. Patients: Twenty patients with the G93C mutation for whom clinical data were available and 1 patient with pathologic data. Main Outcome Measures: Characteristics and survival compared with other ALS subgro..