Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 12451210.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
A two-octapeptide repeat deletion of the prion protein gene has been recently observed in a patient with a 2-year history of dementia and a clinical diagnosis of possible Creutzfeldt-Jakob disease (CJD). The authors report a similar deletion in a patient with a definitive diagnosis of CJD. Since the two-repeat deletion has not been observed in large, population-based studies, the two cases suggest that this deletion is a new pathogenic mutation associated with CJD.
Medical subject headings
- Creutzfeldt-Jakob Syndrome
- Prions