A novel phenotype of sporadic Creutzfeldt-Jakob disease
2007
An atypical case of sporadic Creutzfeldt–Jakob disease (CJD) is described in a 78‐year‐old woman homozygous for methionine at codon 129 of the prion protein (PrP) gene. The neuropathological signature was the presence of PrP immunoreactive plaque‐like deposits in the cerebral cortex, striatum and thalamus. Western blot analysis showed a profile of the pathological form of PrP (PrPSc) previously unrecognised in sporadic CJD, marked by the absence of diglycosylated protease resistant species. These features define a novel neuropathological and molecular CJD phenotype.
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