Queston #6464Note

The imaging provided is an axial cut of a diffusion-weighted MRI showing hyperintensity of the caudate, globus pallidus, and putamen. This image and clinical history are most consistent with the prion disease Creutzfeldt-Jakob disease (CJD).

MRI of the brain has high sensitivity and specificity for this disease (approximately 92 and 95 %, respectively). However, the real-time quaking-induced conversion (RT-QuIC) assay of the CSF has both higher sensitivity and specificity (approximately 96 and 100%, respectively). CSF 14-3-3 is sensitive (~84%) but not specific (~46%). Diagnosis can also be confirmed by biopsy or autopsy.

Most cases of CJD are sporadic. EEG late in the disease can show 1 Hz GPDs. There is no known effective therapy for this disease.