title: Novel prion protein conformation and glycotype in Creutzfeldt-Jakob disease.
abstract: 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.
  
  
  CONCLUSIONS
  To our knowledge, our results define a new human prion disorder characterized by intracellular accumulation of a novel type of pathological prion protein.
authors.affiliation: Department of Neurologic, University of Verona, Verona, Italy.
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Zanusso
authors.forename: Alberto
authors.initials: A
authors.lastname: Polo
authors.forename: Alessia
authors.initials: A
authors.lastname: Farinazzo
authors.forename: Romolo
authors.initials: R
authors.lastname: Nonno
authors.forename: Franco
authors.initials: F
authors.lastname: Cardone
authors.forename: Michele
authors.initials: M
authors.lastname: Di Bari
authors.forename: Sergio
authors.initials: S
authors.lastname: Ferrari
authors.forename: Serena
authors.initials: S
authors.lastname: Principe
authors.forename: Matteo
authors.initials: M
authors.lastname: Gelati
authors.forename: Elisa
authors.initials: E
authors.lastname: Fasoli
authors.forename: Michele
authors.initials: M
authors.lastname: Fiorini
authors.forename: Frances
authors.initials: F
authors.lastname: Prelli
authors.forename: Blas
authors.initials: B
authors.lastname: Frangione
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Tridente
authors.forename: Marina
authors.initials: M
authors.lastname: Bentivoglio
authors.forename: Alessandra
authors.initials: A
authors.lastname: Giorgi
authors.forename: Maria Eugenia
authors.initials: ME
authors.lastname: Schininà
authors.forename: Bruno
authors.initials: B
authors.lastname: Maras
authors.forename: Umberto
authors.initials: U
authors.lastname: Agrimi
authors.forename: Nicola
authors.initials: N
authors.lastname: Rizzuto
authors.forename: Maurizio
authors.initials: M
authors.lastname: Pocchiari
authors.forename: Salvatore
authors.initials: S
authors.lastname: Monaco
mesh_terms: D000368:Aged; D000818:Animals; D003411:Arvicolinae; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics / Q000378:metabolism* / Q000635:transmission; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D006031:Glycosylation; D006801:Humans; D015151:Immunoblotting; D013058:Mass Spectrometry; D016253:Microscopy, Immunoelectron; D010641:Phenotype; D018622:PrP 27-30 Protein / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D018620:PrPSc Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D011487:Protein Conformation; D017434:Protein Structure, Tertiary
chemical_list: D018620:PrPSc Proteins; D018622:PrP 27-30 Protein