NR AOVC
AU Kovacs,G.G.; Gelpi,E.; Voigtländer,T.; Koperek,O.; Ströbel,T.; Budka,H.
TI Novel prion protein deposits in Creutzfeldt-Jakob disease
QU International Conference - Prion diseases: from basic research to intervention concepts - TSE-Forum, 08.10.-10.10.2003, Gasteig, München - Poster session - DG-62
PT Konferenz-Poster
AB
Sporadic, acquired, and genetic human prion diseases are characterized neuropathologically by distinct deposition patterns of the abnormal prion protein (PrPsc). Additionally to mutations and the polymorphism at codon 129 of the PrP gene (PRNP), these correlate also with "strains" of PrPsc classified by Western blotting. Here we report a 65-year-old male patient without remarkable family history, who developed severe ataxia and dementia. CT showed moderate diffuse brain atrophy and an old ischemic lesion in the right putamen. EEG did not reveal a CJD-typical pattern. 14-3-3 in CSF was positive. The patient died after a disease duration of 3 months. Histologically sparse spongiform changes were seen in cortical areas, whereas numerous eosinophilic PAS positive globules either separately or in clusters, mimicking multicentric amyloid plaques, were prominent in the molecular layer of the cerebellum and in the parahippocampal cortex. Immunohistochemistry for PrPsc with antibodies directed against different epitopes of PrP showed intense staining of globules as well as diffuse synaptic deposits in all cortical areas, basal ganglia, and brain stem. Direct sequencing of the full length PRNP excluded a mutation. PRNP codon 129 was MM. The globules are reminiscent of those observed in a Dutch family with PRNP 192 base pair insertion. We are not aware of any other description of these peculiar PrPsc globules.
This work was supported partly by the EU QoL project SEEC-CJD and by the EU Project TSELAB and performed within the EU Concerted Action PRIONET.
AD G.G. Kovacs, E. Gelpi, T. Voigtländer, O. Koperek, T. Ströbel, H. Budka, Institute of Neurology and Austrian Reference Centre for Human Prion Diseases, University of Vienna, Austria
SP englisch
PO Deutschland