Within the genetic prion disease groups, gCJD E200K and V210I carriers showed the highest MDH1 levels in CSF with AUC value of 0.87 and 0.85 followed by GSS (without statistical power) and FFI cases (0.56 AUC, showing a poor discrimination accuracy), which revealed a dependency of MDH1 levels on the type of genetic prion disease. This evidence concerns the gene MDH1 and prion disease.