DNM1L and cerebellar ataxia: As shown in Figure 3B, impairment in higher brain functions played a major role in determining the phenotype, with a difference among the DRP1 domains: encephalopathy and developmental regression were prevalent in patients with a pathogenic variant in the middle and GED domains, whereas peripheral neuropathy, ataxia, dystonia and spasticity were more frequent in pathogenic variants of the GTPase domain.