Decreased APE1 levels were found in patient cells affected by Ataxia with Oculomotor Apraxia Type 1 (AOA1) [191], a neurodegenerative disorder originating in mutations of the APTX gene [192,193], which results in a cellular aprataxin deficiency [194]. The gene discussed is APTX; the disease is Ataxia - oculomotor apraxia type 1.