Novel mutation of the PRNP gene in a CJD case
Author Information
Author(s): Kotta Konstantia, Paspaltsis Ioannis, Bostantjopoulou Sevasti, Latsoudis Helen, Plaitakis Andreas, Kazis Dimitrios, Collinge John, Sklaviadis Theodoros
Primary Institution: Prion Disease Group, Laboratory of Pharmacology, School of Pharmacy, Aristotle University of Thessaloniki, Greece
Hypothesis
The study investigates a novel mutation in the PRNP gene associated with Creutzfeldt-Jakob disease (CJD).
Conclusion
The study reports a novel mutation in the PRNP gene that may be linked to the development of CJD in the patient.
Supporting Evidence
- The patient exhibited typical symptoms of CJD, including confusion and inability to walk.
- EEG findings showed periodic sharp waves typical of sporadic CJD.
- CSF analysis was positive for the presence of the 14-3-3 protein, supporting a probable CJD diagnosis.
- A point mutation at codon 193 was identified, changing threonine to isoleucine.
Takeaway
A 70-year-old woman had a rare change in her genes that might have caused her brain disease, leading to confusion and difficulty walking.
Methodology
The study involved clinical examination, EEG, CSF analysis, and PRNP gene sequencing.
Limitations
No autopsy material was available, and family members did not consent to further genetic investigation.
Participant Demographics
The participant was a 70-year-old woman with a history of diabetes mellitus.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website