“…Residues T267 (Zambonin et al, 2017, Sasaki et al, 2015, Ohba et al, 2013), R269 (Barresi et al, 2017, Zambonin et al, 2017, Das et al, 2017), and S277(Sasaki et al, 2015, Fogel et al, 2014) have all been reported in multiple cases of early-onset, non-progressive cerebellar ataxia. Additionally, for residues T267 and R269, the mutations are manifested as multiple amino acid changes.…”