NR AWRA
AU Zanusso,G.; Polo,A.; Farinazzo,A.; Nonno,R.; Cardone,F.; Di Bari,M.; Ferrari,S.; Principe,S.; Gelati,M.; Fasoli,E.; Fiorini,M.; Prelli,F.; Frangione,B.; Tridente,G.; Bentivoglio,M.; Giorgi,A.; Schinina,M.E.; Maras,B.; Agrimi,U.; Pocchiari,M.; Rizzuto,N.; Monaco,S.
TI Novel prion protein conformation and glycotype in atypical Creutzfeldt Jakob Disease
QU International Conference - Prion 2006: Strategies, advances and trends towards protection of society - 3.10.-6.10.2006, Torino, Italy, Lingotto Conference Centre - Oral sessions ORAL-17
PT Konferenz-Vortrag
AB Here we report a 69-year-old woman who presented with behavioral and personality changes followed by rapidly evolving dementia. Post-mortem examination of the brain showed an atypical Creutzfeldt-Jakob disease (CJD) phenotype characterized by intracellular prion protein deposition and the presence of axonal swellings filled with amyloid fibrils. Biochemical analysis of the pathological prion protein (PrPsc) disclosed a previously unrecognized PrPsc tertiary structure lacking diglycosylated PrPsc species. Genetic analysis revealed a wild-type prion protein gene with methionine/valine heterozygosity at the polymorphic codon 129. The present results define a new prion disorder with disease phenotype and PrPsc glycotype similar to familial CJD with frontotemporal presentation. This work was supported by Neuroprion (FOOD-CT-2004-506579)
AD G. Zanusso, A. Farinazzo, S. Ferrari, M. Gelati, E. Fasoli, M. Fiorini, N. Rizzuto, S. Monaco: Department of Neurologic and Visual Sciences, University of Verona, Verona, Italy; A. Polo: Ospedale Piove di Sacco; R. Nonno, M. Di Bari, U. Agrimi: Department of Food Safety and Veterinary Public Health, Istituto Superiore di Sanità, Rome, Italy; F. Cardone, S. Principe, M. Pocchiari: Department of Cell Biology and Neurosciences, Istituto Superiore die Sanità, Rome,Italy; F. Prelli, B. Frangione: Department of Pathology, New York University Medical Center, New York, NY, USA; G. Tridente: Department of Pathology, University of Verona, Verona, Italy; M. Bentivoglio: Department of Morphologic and Biomedical Sciences, University of Verona, Verona, Italy; A. Giorgi, M.E. Schininà, B. Maras: Department of Biochemistry and Centro die Excellenza BEMM, University of Rome La Sapienza, Rome, Italy. E-mail: gianluigi.zanusso@univr.it
SP englisch
PO Italien