ACAD9, CPEO, Leigh syndrome, LHON, FRDA, MELAS, MERRF, Methylmalonic aciduria, MIDD, MLASA, MNGIE, NARP, NDFUF2, NDUFV2, NDUFAF1, PEO, Sengers Syndrome, TMEM70 deficiency, SANDO, SCAE. Here, NPTX2 is linked to spinocerebellar ataxia with epilepsy.