In affected members of a family with X-linked parkinsonism with spasticity (XPDS), originally reported by Poorkaj et al. and Korvatska et al., identified a pathogenetic splice variant in the ATP6AP2 gene, resulting in an internal deletion of 32 amino acids in the ATP6AP2 protein [61,62]. Here, ATP6AP2 is linked to X-linked parkinsonism-spasticity syndrome.