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

Peter K. Panegyres, Kathrine Toufexis, B. A. Kakulas, Larisa Cernevakova, P. Brown, B. Ghetti, P. Piccardo, S. R. Dlouhy

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56 Scopus citations


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 Β-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.

Original languageEnglish (US)
Pages (from-to)1899-1902
Number of pages4
JournalArchives of Neurology
Issue number11
StatePublished - Jan 1 2001

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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    Panegyres, P. K., Toufexis, K., Kakulas, B. A., Cernevakova, L., Brown, P., Ghetti, B., Piccardo, P., & Dlouhy, S. R. (2001). A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. Archives of Neurology, 58(11), 1899-1902. https://doi.org/10.1001/archneur.58.11.1899