Report about Four Novel Mutations in the Prion Protein Gene

Background/Aims: Since detection of the prion protein gene (PRNP)
morethan 30 mutations have been discovered. Some have only been
found insingle case reports without known intrafamilial
accumulation orneuropathological proof so that the causal
connection between mutationand disease could not be proved. Those
patients often present atypicalclinical phenotypes, and it is not
unusual that they are classified asdiseases other than
Creutzfeldt-Jakob disease (CJD). Methods: Cases ofsuspected CJD
have been reported to the national reference center forprion
diseases. Clinical and diagnostic data were collected, and
aclassification of definite, possible or probable prion disease was
made.Molecular analysis of PRNP was performed by capillary
sequencing.Results: We have described 4 cases with atypical
clinical and diagnosticfindings and unknown mutations in PRNP so
far. Conclusion: Threepatients fulfilled the criteria of probable
CJD, and 1 patient fulfilledthe criteria of possible CJD but the
clinical picture in none of thepatients was typical CJD; hence, it
remained questionable whether themutations were causal of the
disease.