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

K Young, H B Clark, P Piccardo, S R Dlouhy, B Ghetti

Research output: Contribution to journalArticlepeer-review

Abstract

The most common mutation causing Gerstmann-Sträussler-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
Pages (from-to)147-50
Number of pages4
JournalMolecular brain research
Volume44
Issue number1
Publication statusPublished - Feb 1997

Keywords

  • Adult
  • Gerstmann-Straussler-Scheinker Disease
  • Humans
  • Male
  • Mutation
  • Polymerase Chain Reaction
  • Prions
  • Valine

Fingerprint

Dive into the research topics of 'Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129'. Together they form a unique fingerprint.

Cite this