Three missense mutations (c.1459G>T; p.D487Y, c.1561G>C; p.D521H and c.2117G>T; p.C706F), occurring in a receptor closely related to LDLR, the VLDL receptor (VLDLR), have been previously described to be associated with a rare genetic condition termed dysequilibrium syndrome (DES) 15, 16, 17. This evidence concerns the gene LDLR and cerebellar ataxia, intellectual disability, and dysequilibrium.