A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann–Sträussler–Scheinker disease phenotype: comparison with similar cases from the literature

Human prion diseases can be sporadic, inherited or acquired by infection and show considerable phenotypic heterogeneity. We describe the clinical, histopathological and pathological prion protein (PrP(Sc)) characteristics of a Dutch family with a novel 7-octapeptide repeat insertion (7-OPRI) in PRNP...

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Detalles Bibliográficos
Autores principales: Jansen, Casper, Voet, Willem, Head, Mark W., Parchi, Piero, Yull, Helen, Verrips, Aad, Wesseling, Pieter, Meulstee, Jan, Baas, Frank, van Gool, Willem A., Ironside, James W., Rozemuller, Annemieke J. M.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3015204/
https://www.ncbi.nlm.nih.gov/pubmed/20198483
http://dx.doi.org/10.1007/s00401-010-0656-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3015204/
https://www.ncbi.nlm.nih.gov/pubmed/20198483
http://dx.doi.org/10.1007/s00401-010-0656-3

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