Article
Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129.
Brain research. Molecular brain research - 1 Feb 1997
Young K, Clark H B, Piccardo P, Dlouhy S R, Ghetti B
Abstract excerpt
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.
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