Gerstmann-Straussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129

Katherine Young, H. Brent Clark, Pedro Piccardo, Stephen R. Dlouhy, Bernardino Ghetti

Research output: Contribution to journalArticle

47 Scopus citations

Abstract

The most common mutation causing Gerstmann-Straussler-Scheinker (GSS) disease is P102L in the prion protein. Previously, this mutation has only been found in coupling with methionine at residue 129. We describe a patient with GSS disease in whom the P102L mutation is in coupling with valine at residue 129. The clinical presentation in P102L-V129 differs greatly from that seen in P102-M129 patients.

Original languageEnglish (US)
Pages (from-to)147-150
Number of pages4
JournalMolecular Brain Research
Volume44
Issue number1
DOIs
StatePublished - Feb 1 1997

Keywords

  • Amyloid
  • Gerstmann-Straussler-Scheinker
  • PRNP mutation
  • Prion protein
  • Spinal cord

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