title: Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129.
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.
authors.affiliation: Dept. of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis 46202, USA.
authors.forename: K
authors.initials: K
authors.lastname: Young
authors.forename: H B
authors.initials: HB
authors.lastname: Clark
authors.forename: P
authors.initials: P
authors.lastname: Piccardo
authors.forename: S R
authors.initials: SR
authors.lastname: Dlouhy
authors.forename: B
authors.initials: B
authors.lastname: Ghetti
mesh_terms: D000328:Adult; D016098:Gerstmann-Straussler-Scheinker Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011328:Prions / Q000235:genetics*; D014633:Valine
chemical_list: D011328:Prions; D014633:Valine