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Published on: September 29, 2017
Novel prion protein conformation and glycotype in Creutzfeldt-Jakob disease
Gianluigi Zanusso1, Alberto Polo, Alessia Farinazzo
1Department of Neurologic, University of Verona, Verona, Italy.
Objective:
To describe a novel molecular and pathological phenotype of Creutzfeldt-Jakob disease. Patient A 69-year-old woman with behavioral and personality changes followed by rapidly evolving dementia.
Results:
Postmortem examination of the brain showed intracellular prion protein deposition and axonal swellings filled with amyloid fibrils. Biochemical analysis of the pathological prion protein disclosed a previously unrecognized PrP(Sc) tertiary structure lacking diglycosylated species. Genetic analysis revealed a wild-type prion protein gene. The prion agent responsible for this atypical phenotype was successfully passaged to bank voles.
Conclusion:
To our knowledge, our results define a new human prion disorder characterized by intracellular accumulation of a novel type of pathological prion protein.
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