SLC25A46, a novel mitochondrial protein, has recently been identified as a pathogenic target in a wide spectrum of rare genetic neurological diseases, including optic atrophy, Charcot-Marie-Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia. This evidence concerns the gene SLC25A46 and hereditary optic atrophy.