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

Background: Amyotrophic lateral sclerosis (ALS) is a clinically and genetically heterogeneous group of disorders affecting the upper and lower motor neurons. Mutations in the spastin gene represent the most common cause of dominantly inherited hereditary spastic paraplegia (HSP). The majority of patients with spastin mutations develop uncomplicated HSP, but additional features are common. Here we report a patient with rapidly progressing adult-onset ALS. Molecular genetic analysis revealed a heterozygous missense change (S44L) of the spastin gene. Methods: The patient was a 50 year old woman, who developed a rap…