A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease

Arch Neurol. 2001 Nov;58(11):1899-902. doi: 10.1001/archneur.58.11.1899.


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.

Patient and 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Brain / pathology*
  • Brain / physiology
  • Gerstmann-Straussler-Scheinker Disease / genetics*
  • Gerstmann-Straussler-Scheinker Disease / pathology
  • Gerstmann-Straussler-Scheinker Disease / physiopathology
  • Humans
  • Immunohistochemistry
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Prions / analysis
  • Prions / genetics*


  • Prions