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). The gene discussed is ATP13A2; the disease is amyotrophic lateral sclerosis.