SLC25A46 and Leber hereditary optic neuropathy: Subsequently, 29 patients from 22 families were reported with biallelic missense mutations in SLC25A46 (Fig 1A) in an increasingly broad spectrum of neurological disorders that includes progressive myoclonic ataxia, autosomal recessive cerebellar ataxias, pontocerebellar hypoplasia with spinal muscular atrophy (PCH1), and Parkinson’s disease and optic atrophy (Charlesworth et al, 2016; Wan et al, 2016; Hammer et al, 2017; Nguyen et al, 2017; Sulaiman et al, 2017; van Dijk et al, 2017; Abrams et al, 2018; Braunisch et al, 2018; Bitetto et al, 2020; Ababneh et al, 2021; Kodal et al, 2022).