Article
Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker disease.
Proceedings of the National Academy of Sciences of the United States of America - 7 Jul 1998
Parchi P, Chen S G, Brown P, Zou W, Capellari S, Budka H, Hainfellner J, Reyes P F, Golden G T, Hauw J J, Gajdusek D C, Gambetti P
Abstract excerpt
The clinicopathological phenotype of the Gerstmann-Sträussler-Scheinker disease (GSS) variant linked to the codon 102 mutation in the prion protein (PrP) gene (GSS P102L) shows a high heterogeneity. This variability also is observed in subjects with the same prion protein gene PRNP haplotype and...
Topics
- Adult
- Aged
- Female
- Genetic Markers
- Gerstmann-Straussler-Scheinker Disease
- Humans
- Male
- Middle Aged
- Mutation
- Peptide Fragments
- Prions