In addition to AIF deficiency being related to different neurodegeneration types (Klein et al., 2002; Joza et al., 2005; van Empel et al., 2005; Cheung et al., 2006; Ishimura et al., 2008), six AIF pathological mutations have also been reported to produce human neurodegenerative diseases, with all patients with AIF mutations showing muscular atrophy, neuropathy and ataxia (Ghezzi et al., 2010; Berger et al., 2011; Rinaldi et al., 2012; Ardissone et al., 2015; Diodato et al., 2015; Kettwig et al., 2015). The gene discussed is AIFM1; the disease is neurodegenerative disease.