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Schelzke, Gabi; Stoeck, Katharina; Eigenbrod, Sabina; Grasbon-Frodl, Eva; Raddatz, Lena M.; Ponto, Claudia; Kretzschmar, Hans A.; Zerr, Inga (2013): Report about Four Novel Mutations in the Prion Protein Gene. In: Dementia and Geriatric Cognitive Disorders, No. 3-4: pp. 229-237


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.