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 proteaseresistant PrP, similar to type 1 and type 2 of sCJD. The features suggest that this insertion is a pathogenic mutation.
|Titolo:||Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene|
|Data di pubblicazione:||2003|
|Appare nelle tipologie:||1.1 Articolo in rivista|