Novel OPTN variant causes atypical parkinsonism phenotype in familial amyotrophic lateral sclerosis


  • The phenotypic manifestations of OPTN mutations also include progressive supranuclear palsy corticobasal syndrome (PSP-CBS).

Why this matters

  • OPTN gene mutations are implicated in <1% of people with amyotrophic lateral sclerosis (ALS).
  • This is the first report of an OPTN variant causing a clinical phenotype with features of both ALS and PSP-CBS.