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Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment

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Abstract

A case of Creutzfeldt-Jakob disease (CJD) with a rare mutation of the prion protein (PrP) gene (PRNP) at codon 208 (R208H) is described. By comparison with two preceding reports, the case described here displayed two distinct biochemical and neuropathological features. Western blot analysis of brain homogenates showed, in addition to the commonly observed three bands of abnormal protease-resistant PrP isoform (PrPSc), an additional band of about 17 kDa. Neuropathological examination of the post mortem brain revealed tau pathology in the hippocampus and entorhinal cortex, as well as ballooned neurons in the cortex, hippocampus and subcortical gray matter.

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Acknowledgements

This study was supported by a grant from the Federal Ministry of Health (Bundesgesundheitsministerium) and the European Commission (TSELAB QLK 2- CT-2002–81523). We thank Dr. M. Groschup for providing the antibody L42 and E. Staniszewski, A. Henn and G. Kwiatkowski for expert technical assistance in genetic analysis, histological processing and Western blot analysis. We thank Dr. Hillig (general practitioner) and Dr. Schaefer (Institute for Human Genetics Frankfurt a.M.) for providing information on the family history.

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Author notes

  1. Otto Windl

    Present address: TSE Molecular Biology Department, Veterinary Laboratories Agency-Weybridge, New Haw, Addlestone, Surrey, KT15 3NB, UK

Authors and Affiliations

  1. Center for Neuropathology and Prion Research, Ludwig-Maximilians-Universität München, Feodor-Lynen-Srasse 23, 81377, München, Germany

    Sigrun Roeber, Bjarne Krebs, Manuela Neumann, Otto Windl, Eva-Maria Grasbon-Frodl & Hans A. Kretzschmar

  2. Department of Neurology, Georg-August-University Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany

    Inga Zerr

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  1. Sigrun Roeber
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  2. Bjarne Krebs
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  4. Otto Windl
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  7. Hans A. Kretzschmar
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Correspondence to Hans A. Kretzschmar.

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Roeber, S., Krebs, B., Neumann, M. et al. Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment. Acta Neuropathol 109, 443–448 (2005). https://doi.org/10.1007/s00401-004-0978-0

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  • DOI: https://doi.org/10.1007/s00401-004-0978-0

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