title: A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.
abstract: BACKGROUND
  Gerstmann-Sträussler-Scheinker disease is a rare form of prion disease.
  
  
  OBJECTIVE
  To determine the prion mutation in a 51-year-old man without a family history of neurologic disease who died from Gerstmann-Sträussler-Scheinker disease.
  
  
  METHODS
  The patient was a 51-year-old man who died after a 9-year illness characterized by dementia and eventually ataxia. Neuropathologic studies were performed, the results of which revealed abundant prion protein-immunopositive amyloid plaques in the cerebellum without spongiform degeneration.
  
  
  RESULTS
  Genetic analysis of the prion protein gene showed a novel mutation at codon 131 that caused a valine-for-glycine substitution (G131V) and homozygosity at codon 129 (129M). Proteinase K-resistant prion protein was detected by Western blot analysis.
  
  
  CONCLUSIONS
  This is the first mutation described in the short, antiparallel beta-sheet domain of the prion protein. This report highlights the importance of genetic analysis of patients with atypical dementia even in the absence of a family history.
authors.affiliation: Department of Neuropathology, Royal Perth Hospital, Wellington Street, Perth, Western Australia 6000. peter.panegyres@rph.health.wa.gov.au
authors.forename: P K
authors.initials: PK
authors.lastname: Panegyres
authors.forename: K
authors.initials: K
authors.lastname: Toufexis
authors.forename: B A
authors.initials: BA
authors.lastname: Kakulas
authors.forename: L
authors.initials: L
authors.lastname: Cernevakova
authors.forename: P
authors.initials: P
authors.lastname: Brown
authors.forename: B
authors.initials: B
authors.lastname: Ghetti
authors.forename: P
authors.initials: P
authors.lastname: Piccardo
authors.forename: S R
authors.initials: SR
authors.lastname: Dlouhy
mesh_terms: D001483:Base Sequence; D001921:Brain / Q000473:pathology* / Q000502:physiology; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D011328:Prions / Q000032:analysis / Q000235:genetics*
chemical_list: D011328:Prions