Homozygous variants predicted to be deleterious such as c.2251C>T and c.2149C→T found within the catalytic domain of RNF216 still display progressive ataxia with cerebellar atrophy (Margolin et al., 2013) indicating regardless of the type of mutation, ataxia is still present. The gene discussed is RNF216; the disease is Cerebellar atrophy.