Article
Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene.
Neurology - 11 Nov 2003
Pietrini V, Puoti G, Limido L, Rossi G, Di Fede G, Giaccone G, Mangieri M, Tedeschi F, Bondavalli A, Mancia D, Bugiani O, Tagliavini F
Abstract excerpt
The authors investigated two unrelated patients with Creutzfeldt-Jakob disease (CJD) with clinical features of sporadic CJD (sCJD) carrying one extra octapeptide repeat in the prion protein (PrP) gene (PRNP). A synaptic type PrP distribution throughout the cerebral gray matter and plaque-like PrP deposits in the subcortical gray structures were detected immunocytochemically. The different patterns of PrP...
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