Mutations in SOD1 and FUS caused juvenile-onset sporadic amyotrophic lateral sclerosis with aggressive progression

摘要

Juvenile onset amyotrophic lateral sclerosis (ALS) is a very rare form of motor neuron disease, with the first symptoms of motor neuron degeneration manifested before 25 years of age. Juvenile ALS is more frequently familial in nature than the adult-onset forms. Mutations in the alsin (ALS2), senataxin (SETX), and Spatacsin (SPG11) have been associated with familial ALS with juvenile onset and slowly progression. Here we reported two apparently sporadic ALS with juvenile onset and aggressive progression caused by mutations in the SOD1 and FUS gene. We also reviewed juvenile-onset ALS in publications. Our findings, together with other researches, confirms that both SOD1 and FUS mutations can lead to juvenile-onset malignant form of ALS and should be screened in ALS patients with an earlier age of onset, aggressive progression, even if there is no apparent family history.KeywordsAmyotrophic lateral sclerosis (ALS); juvenile onset; SOD1; FUS