The p.Asp487Tyr mutation in VLDLR could explain the neurological phenotype, classifying the affected individuals as VLDLR-associated Dysequilibrium Syndrome (DES), a rare condition with eight disease-causing (two missense) mutations reported to-date (Boycott et al. 2009; Kolb et al. 2010; Ali et al. 2012). Here, VLDLR is linked to cerebellar ataxia, intellectual disability, and dysequilibrium.