Notably, the disruption of two subunits of GARP have been linked to neuronal dysfunction in mammals: (1) a homozygous recessive mutation in Vps54 in the wobbler mouse (Schmitt-John et al., 2005), and (2) heterozygous mutations in Vps53 in pontocerebellar hypoplasia type 2E in humans (Feinstein et al., 2014). This evidence concerns the gene VPS54 and progressive cerebello-cerebral atrophy.