Mutations in ATP13A2 typically cause Kufor-Rakeb syndrome and also a late-onset autosomal recessive spastic paraplegia 78 (SPG78) and juvenile onset amyotrophic lateral sclerosis (ALS) (50–52), whereas one family was diagnosed with CLN12 disease (14, 53, 54). This evidence concerns the gene ATP13A2 and parkinsonism due to ATP13A2 deficiency.