APTX mutations are linked to the progressive neurodegenerative diseases ataxia with Oculomotor Apraxia 1 (AOA1) (Date et al, 2001; Moreira et al, 2001), ataxia with coenzyme Q10 (coQ10) deficiency (Quinzii et al, 2005), and a multiple system atrophy resembling Parkinson's disease (Baba et al, 2007). Here, APTX is linked to cerebellar ataxia.