title: Report about four novel mutations in the prion protein gene.
abstract: OBJECTIVE
  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 intrafamilial accumulation or neuropathological proof so that the causal connection between mutation and disease could not be proved. Those patients often present atypical clinical phenotypes, 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 performed by capillary sequencing.
  
  
  RESULTS
  We have described 4 cases with atypical clinical and diagnostic findings and unknown mutations in PRNP so far.
  
  
  CONCLUSIONS
  Three patients fulfilled 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 whether the mutations were causal of the disease.
authors: Department of Neurology, Clinical Dementia Center, Georg August University Goettingen, Goettingen, Germany. epicjd @ med.uni-goettingen.de
authors: Gabi
authors: G
authors: Schelzke
authors: Katharina
authors: K
authors: Stoeck
authors: Sabina
authors: S
authors: Eigenbrod
authors: Eva
authors: E
authors: Grasbon-Frodl
authors: Lena M
authors: LM
authors: Raddatz
authors: Claudia
authors: C
authors: Ponto
authors: Hans A
authors: HA
authors: Kretzschmar
authors: Inga
authors: I
authors: Zerr
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid*; D000368:Aged; D000369:Aged, 80 and over; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis*; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D017096:Prion Diseases / Q000175:diagnosis / Q000235:genetics*; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*
chemical_list: D048948:14-3-3 Proteins; D002556:Cerebrospinal Fluid Proteins; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions