These include mutations in ALAS2 (5′-aminolevulinate synthase 2) seven-codon in X-linked SA (Cotter et al. 1992), mutations in ABCB7 in X-linked SA with spinocerebellar ataxia (Allikmets et al. 1999), and mutations in GLRX5 (glutaredoxin 5) in congenital SA (Camaschella et al. 2007; Ye et al. 2010), among many others (for a recent review, see Cazzola and Malcovati 2015). The gene discussed is ALAS2; the disease is cerebellar ataxia.