Additionally, the phenotypic spectrum of SLC25A46 expanded, including the severe infantile Leigh-like encephalopathy [265], but also severe congenital ponto-cerebellar hypoplasia [269,270,271] and more recently optic atrophy and Parkinsonism [272], this latter case resembling some specific OPA1 mutations [73]. The gene discussed is SLC25A46; the disease is Leber hereditary optic neuropathy.