References
Windl O, Kretzschmar HA (2000) Prion diseases. Contemp Neurol (Neurogenetics) 57:191–218
Notari S, Capellari S, Giese A, Westner I, Baruzzi A, Ghetti B, Gambetti P, Kretzschmar HA, Parchi P (2004) Effects of different experimental conditions on the PrPSc core generated by protease digestion: implications for strain typing and molecular classification of CJD. J Biol Chem 279:16797–16804
WHO (1998) Global surveillance, diagnosis and therapy of human transmissible spongiform encephalopathies: report of a WHO consultation 1998. WHO, 9 December 1998
Windl O, Giese A, Schulz-Schaeffer W, Skworc K, Arendt S, Oberdieck C, Bodemer M, Zerr I, Poser S, Kretzschmar HA (1999) Molecular genetics of human prion diseases in Germany. Hum Genet 105:244–252
Korth C, Stierli B, Streit P, Moser M, Schaller O, Fischer R, Schulz-Schaeffer W, Kretzschmar H, Raeber A, Braun U, Ehrensperger F, Hornemann S, Glockshuber R, Riek R, Billeter M, Wüthrich K, Oesch B (1997) Prion (PrPSc)-specific epitope defined by a monoclonal antibody. Nature 390:74–77
Rogers M, Serban D, Gyuris T, Scott M, Torchia T, Prusiner SB (1991) Epitope mapping of the Syrian hamster prion protein utilizing chimeric and mutant genes in a vaccinia virus expression system. J Immunol 147:3568–3575
Vorberg I, Buschmann A, Harmeyer S, Saalmüller A, Pfaff E, Groschup M (1999) A novel epitope for the specific detection of exogenous prion proteins in transgenic mice and transfected murine cell lines. Virology 255:26–31
Schulz-Schaeffer WJ, Tschöke S, Kranefuss N, Dr, Hause-Reitner D, Giese A, Groschup MH, Kretzschmar HA (2000) The paraffin-embedded tissue blot detects PrP(Sc) early in the incubation time in prion diseases. Am J Pathol 156:51–56
Pastore M, Castellani R, Chin S, Hua Z, Bell K, Chin SS, Gambetti P (2002) Creutzfeldt-Jakob disease associated with the novel R148H prion protein gene mutation. J Neuropathol Exp Neurol 61:491
Parchi P, Giese A, Capellari S, Brown P, Schulz-Schaeffer W, Windl O, Zerr I, Budka H, Kopp N, Piccardo P, Poser S, Rojiani A, Streichemberger N, Julien J, Vital C, Ghetti B, Gambetti P, Kretzschmar H (1999) Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 46:224–233
Soldevila M, Andres AM, Blancher A, Calafell F, Ordonez M, Pumarola M, Oliva B, Aramburu J, Bertranpetit J (2004) Variation of the prion gene in chimpanzees and its implication for prion diseases. Neurosci Lett 355:157–160
Wopfner F, Weidenhofer G, Schneider R, von Brunn A, Gilch S, Schwarz TF, Werner T, Schatzl M (1999) Analysis of 27 mammalian and 9 avian PrPs reveals high conservation of flexible regions of the prion protein. J Mol Biol 289:1163–1178
Acknowledgements
We thank Angelika Henn, Gertrud Kwiatkowski, Nico Westphal and Elzbieta Staniszewski for expert technical assistance. This study was supported by the Federal Ministry of Health (Bundesgesundheitsministerium) and the European Commission (FOOD-CT-2004-506579 and QLK2-CT 2002-81523).
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Krebs, B., Lederer, RM., Windl, O. et al. Creutzfeldt-Jakob disease associated with an R148H mutation of the prion protein gene. Neurogenetics 6, 97–100 (2005). https://doi.org/10.1007/s10048-004-0208-x
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DOI: https://doi.org/10.1007/s10048-004-0208-x