This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (1)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Prion Diseases  • Alert me on articles by topic  Social Bookmarking   What's this?

Gianluigi Zanusso, MD, PhD; Alberto Polo, MD; Alessia Farinazzo, PhD; Romolo Nonno, DMV; Franco Cardone, PhD; Michele Di Bari, PhD; Sergio Ferrari, MD; Serena Principe, PhD; Matteo Gelati, PhD; Elisa Fasoli, PhD; Michele Fiorini, PhD; Frances Prelli, PhD; Blas Frangione, MD, PhD; Giuseppe Tridente, MD; Marina Bentivoglio, MD; Alessandra Giorgi, PhD; Maria Eugenia Schininà, PhD; Bruno Maras, PhD; Umberto Agrimi, DMV; Nicola Rizzuto, MD; Maurizio Pocchiari, MD; Salvatore Monaco, MD

Arch Neurol. 2007;64(4):595-599.

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.

Author Affiliations: Departments of Neurologic and Visual Sciences (Drs Zanusso, Farinazzo, Ferrari, Gelati, Fasoli, Fiorini, Rizzuto, and Monaco), Pathology (Dr Tridente), and Morphologic and Biomedical Sciences (Dr Bentivoglio), University of Verona, Verona, Italy; Ospedale Piove di Sacco, Piove di Sacco, Italy (Dr Polo); Departments of Food Safety and Veterinary Public Health (Drs Nonno, Di Bari, and Agrimi) and Cell Biology and Neurosciences (Drs Cardone, Principe, and Pocchiari), Istituto Superiore di Sanità, and Department of Biochemistry and Centro di Eccellenza BEMM, University of Rome "La Sapienza" (Drs Giorgi, Schininà, and Maras), Rome, Italy; and Department of Pathology, New York University Medical Center, New York (Drs Prelli and Frangione).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation
Tunnell et al.
Neurology 2008;71:1431-1438.
ABSTRACT | FULL TEXT