Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene |
| |
Authors: | 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 |
| |
Institution: | Department of Neuroscience, Institute of Neurology, University of Parma, Italy. vladimiro.pietrini@unipr.it |
| |
Abstract: | 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 deposition were associated with distinct types of protease-resistant PrP, similar to type 1 and type 2 of sCJD. The features suggest that this insertion is a pathogenic mutation. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |