For example, at least 17 single amino acid substitutions in AFG3L2 have been linked to the development of spinocerebellar ataxia type 28 (SCA28), a disorder characterized by imbalance, slurred speech and lack of limb coordination (Mariotti et al., 2008; Di Bella et al., 2010; Lobbe et al., 2014; Qu et al., 2015; Zuhlke et al., 2015; Svenstrup et al., 2017). The gene discussed is AFG3L2; the disease is spinocerebellar ataxia type 28.