Marta García de Burgos

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

Pathogenic variants in ATP1A3 are classically associated with alternating hemiplegia of childhood, CAPOS syndrome, and rapid-onset dystonia-parkinsonism. However, the phenotypic spectrum of ATP1A3-related disease has expanded considerably in recent years, including atypical presentations with spasticity and hereditary...