APTX and cerebellar ataxia: Importantly, several DNA-end processing enzymes recruited by XRCC1 are mutated in human ataxias, such as the spinocerebellar ataxia with axonal neuropathy-1 (SCAN1; mutated in TDP1), ataxia oculomotor apraxia-1 (AOA1; mutated in aprataxin) and ataxia oculomotor apraxia-4 (AOA4; mutated in PNKP) [116–121].