Different Patterns of Truncated Prion Protein Fragments Correlate with Distinct Phenotypes in P102L Gerstmann--Straussler--Scheinker Disease

The clinicopathological phenotype of the Gerstmann--Straussler--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 i...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 1998-07, Vol.95 (14), p.8322-8327
Hauptverfasser:	Parchi, Piero, Chen, Shu G., Brown, Paul, Zou, Wenquan, Capellari, Sabina, Budka, Herbert, Hainfellner, Johannes, Reyes, Patricio F., Golden, Gregory T., Hauw, Jean J., Gajdusek, D. Carleton, Gambetti, Pierluigi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Amyloids Biological Sciences Codons Creutzfeldt Jakob syndrome Disease Female Genes Genetic Markers Genetic mutation Gerstmann-Straussler-Scheinker Disease - genetics Gerstmann-Straussler-Scheinker Disease - metabolism Gerstmann-Straussler-Scheinker Disease - physiopathology Humans Male Mass spectroscopy Middle Aged Mutation Nervous system diseases Neurology Pathology Peptide Fragments - genetics Peptide Fragments - metabolism Phenotypes Prion diseases Prions Prions - genetics Prions - metabolism Proteins
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