In human patients, neuroaxonal dystrophic pathology has been associated to varying degrees with several genetically defined disease syndromes, most prominently in Infantile Neuroaxonal Dystrophy (INAD) and Pantothanate Kinase-associated Neurodegeneration associated with alterations in the PLA2G6, and PANK2 genes respectively. This evidence concerns the gene PANK2 and neurodegeneration with brain iron accumulation 2A.