APTX and ataxia telangiectasia: Recently a number of diseases, such as ataxia-telangiectasia, Cockayne syndrome, ataxia with oculomotor apraxia 1 (AOA1) and spinocerebellar ataxia with axonal neuropathy 1 (SCAN1) have been suggested to have mitochondrial dysfunction and these disorders were also identified by our tools [14-17].