Previous reports have proved expression of ATP6AP2 in the brain and in neuronal cell differentiation [4, 5, 34], shown decreased levels in XPDS patients [6], shown that conditional depletion induced cognitive impairment and neurodegeneration [7] and reported gene mutation in patients with X-linked mental retardation and epilepsy [42]. This evidence concerns the gene ATP6AP2 and X-linked parkinsonism-spasticity syndrome.