“…A clinically related syndrome AOA2, is caused by mutations in Senataxin (Anheim et al, 2009; Hammer et al, 2012; Le Ber et al, 2004; Moreira et al, 2004), a helicase, which is associated with DNA damage responses, transcriptional control and possibly a SSBR defect (Bennett and La Spada, 2015; Hamperl and Cimprich, 2014; Richard et al, 2013; Suraweera et al, 2007). AOA2 has an older age onset (mean 14.6 years) and affected individuals rarely manifest dystonia and have normal albumin and cholesterol values, but consistently have increased alpha-fetoprotein (Anheim et al, 2012; Schieving et al, 2014). In contrast, AOA3 is reported to result from mutations in the phosphoinositide-3-kinase regulatory subunit 5 (PIK3R5) gene, and cell lines from these patients have been linked to defective DNA damage signaling (Al Tassan et al, 2012; Gueven et al, 2007; Kobayashi et al, 2015).…”