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. The gene discussed is SLC25A46; the disease is Charcot-Marie-Tooth disease type 2.