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

doi:10.1016/s0169-328x(96)00251-3

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

Brain Res Mol Brain Res. 1997 Feb;44(1):147-50. doi: 10.1016/s0169-328x(96)00251-3.

Authors

K Young¹, H B Clark, P Piccardo, S R Dlouhy, B Ghetti

Affiliation

¹ Dept. of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis 46202, USA.

PMID: 9030710
DOI: 10.1016/s0169-328x(96)00251-3

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.

Publication types

Research Support, U.S. Gov't, P.H.S.

MeSH terms

Adult
Gerstmann-Straussler-Scheinker Disease / genetics*
Humans
Male
Mutation / genetics*
Polymerase Chain Reaction
Prions / genetics*
Valine*

Substances

Prions
Valine

Grants and funding

PHS R01 NS 29822/NS/NINDS NIH HHS/United States