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 is independent from the duration of the disease. Immunoblot analysis of brain homogenates from GSS P102L patients...
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