In conclusion, we have identified a unique case of genetic CJD that had two different PRNP variants. The patient was compound heterozygous for the well‐characterized c.628G>A (p.V210I) variant and the more rare octapeptide deletion of two repeats [c.202_249del48 (p.P68_Q83del)]. This evidence concerns the gene PRNP and Creutzfeldt Jacob disease.