Patients with Infantile Neuroaxonal Dystrophy (INAD) [OMIM #256600] have infantile onset of progressive neurodegeneration characterized by hypotonia, spasticity, hyperreflexia, visual disturbances and deterioration of motor skills. Late onset cases of INAD have been reported, and there is overlap between INAD and other types of Neurodegeneration with Brain Iron Accumulation (NBIA, OMIM #610217), such as panthokinase associated neurodegeneration (PKAN) and Karak syndrome. Mutations of the phospholipase A2 group IV gene (PLA2G6) [OMIM #603604] have been identified in patients with Karak syndrome, INAD and NBIA. PLA2G6 mutations are inherited in an autosomal recessive pattern. Mutations in PLA2G6 have been found in 39/44 patients with a clinical and pathological diagnosis of INAD and in 4/24 patients diagnosed with NBIA
Deletions and/or duplications in the PLA2G6 gene as causative of INAD have been reported.