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Background/Aims: Since detection of the prion protein gene (PRNP) more than 30 mutations have been discovered. Some have only been found in single case reports without known in-trafamilial accumulation or neuropathological proof so that the causal connection between mutation and disease could not be proved. Those patients often present atypical clinical phe-notypes, and it is not unusual that they are classified as diseases other than Creutzfeldt-Jakob disease (CJD). Methods: Cases of suspected CJD have been reported to the national reference center for prion diseases. Clinical and diagnostic data were collected, and a classification of definite, possible or probable prion disease was made. Molecular analysis of PRNP was per-formed by capillary sequencing. Results: We have described 4 cases with atypical clinical and diagnostic findings and unknown mutations in PRNP so far. Conclusion: Three patients ful-filled the criteria of probable CJD, and 1 patient fulfilled the criteria of possible CJD but the clinical picture in none of the patients was typical CJD; hence, it remained questionable wheth-er the mutations were causal of the disease. Copyright © 2013 S. Karger AG, Base