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Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129
K Young1, H B Clark, P Piccardo
1Dept. of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis 46202, USA.
Brain Research. Molecular Brain Research
|February 1, 1997
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.