Articles published between January 2020 and May 2025 were screened using keywords such as “Infantile neuroaxonal dystrophy”, “PLA2G6-associated neurodegeneration”, “Neurodegeneration with brain iron accumulation”, “Psychomotor regression”, “Cerebellar atrophy”, “Axonal degeneration”, and “Seitelberger's disease”. This evidence concerns the gene PLA2G6 and neurodegeneration with brain iron accumulation 2A.