A novel phenotype of sporadic Creutzfeldt-Jakob disease.
case_report · Level V
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- Record sourced from PubMed, PMID 18024694.
- Also identified by PMC identifier 2095610.
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Abstract
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 (PrP(Sc)) previously unrecognised in sporadic CJD, marked by the absence of diglycosylated protease resistant species. These features define a novel neuropathological and molecular CJD phenotype.
Medical subject headings
- Creutzfeldt-Jakob Syndrome
- PrPSc Proteins