Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis

Abstract

The authors present a 50-year-old patient with adult-onset amyotrophic lateral sclerosis (ALS) that was rapidly progressing. Screening of the spastin gene revealed a heterozygous missense change S44L. We excluded the involvement of the ALS-linked gene for copper/zinc superoxide dismutase (SOD1). This unusual phenotype shows that allelic variants of spastin may predispose bearers to a greater spectrum of motor neuron disorders including ALS.

• Amyotrophic lateral sclerosis
• spastin
• missense S44L
• hereditary spastic paraplegia