VPS11 and cerebellar ataxia: Mutation of the VPS11 gene in humans is associated with an infantile onset neurological syndrome characterized by hypomyelination and variable neurological deficits including motor and cognitive impairment, dystonia, ataxia, visual deficits, and seizures (Figure 2.B) (Edvardson et al. 2015; Hörtnagel et al. 2016; Zhang et al. 2016).