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.
|Number of pages||4|
|Journal||Molecular brain research|
|Publication status||Published - Feb 1997|
- Gerstmann-Straussler-Scheinker Disease
- Polymerase Chain Reaction