ATP13A2 gene mutations are associated with Kufor–Rakeb syndrome.[5] The ATP13A2 mutation was first identified in 2010.[2] This syndrome is identified to have a compound heterozygous or homozygous mutation in the ATP13A2 gene.[3] This mutation is located on chromosome 1 and codes for a lysosomal type 5 ATPase.[3] Patients have been identified to have iron in their basal ganglia.[5]