The vast majority of mutations were found in the coding region of PLA2G6. Although there is no clear evidence to support a correlation between specific PLA2G6 mutations and phenotype, it has been suggested that more aggressive forms of INAD are associated with nonsense and/or frameshift mutations while atypical NAD is more frequently found in patients with missense mutations33. Here, PLA2G6 is linked to neurodegeneration with brain iron accumulation 2A.