Article
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.
Acta neuropathologica - 1 Feb 2010
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
Abstract excerpt
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)) characteristics of two Dutch patients carrying novel adjacent stop codon mutations in the C-terminal part of PRNP,...
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