This is an interesting presentation as CJD in itself is a rare disease and homozygosity for variants in the PRNP represents an even rarer occurrence. Genetic CJD with two homozygous variants of c.598G>A (p.E200K) have been described, but compound heterozygosity for two different PRNP variants has not, to our knowledge, been described before (Simon et al., 2000). Here, PRNP is linked to Creutzfeldt Jacob disease.