Mutations in POLG coding for a mitochondrial DNA-polymerase are classically associated with Alpers syndrome but are also present in mitochondrial recessive ataxia syndrome (MIRAS), spinocerebellar ataxia with epilepsy (SCAE), and myoclonus, epilepsy, myopathy, sensory ataxia (MEMSA) syndrome. Here, POLG is linked to recessive mitochondrial ataxia syndrome.