Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP

Stop codon mutations in the gene encoding the prion protein (PRNP) are very rare and have thus far only been described in two patients with prion protein cerebral amyloid angiopathy (PrP-CAA). In this report, we describe the clinical, histopathological and pathological prion protein (PrP(Sc)) charac...

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Detalles Bibliográficos
Autores principales: Jansen, Casper, Parchi, Piero, Capellari, Sabina, Vermeij, Ad J., Corrado, Patrizia, Baas, Frank, Strammiello, Rosaria, van Gool, Willem A., van Swieten, John C., Rozemuller, Annemieke J. M.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808512/
https://www.ncbi.nlm.nih.gov/pubmed/19911184
http://dx.doi.org/10.1007/s00401-009-0609-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808512/
https://www.ncbi.nlm.nih.gov/pubmed/19911184
http://dx.doi.org/10.1007/s00401-009-0609-x

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