MT-ATP6–related mitochondrial disease has been associated with various phenotypes, including NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome, Leigh syndrome (LS), Charcot–Marie–Tooth (CMT) disease, spinocerebellar ataxia (SCA), encephalopathy, peripheral neuropathy, proximal myopathy, cardiomyopathy, dystonia. This evidence concerns the gene MT-ATP6 and cerebellar ataxia.