Hartig et al. (2011) identified the association in 2011 by conducting a whole exome sequencing on patients of Polish descent. Given the mitochondrial localization of the protein encoded by the orphan gene, the authors proposed to name this NBIA subtype by the acronym MPAN (Mitochondrial membrane Protein Associated Neurodegeneration, OMIM #614298). Since then, several cases carrying different type of mutations in C19orf12 gene have been reported (Dušek et al., 2018). This evidence concerns the gene C19orf12 and neurodegeneration with brain iron accumulation.