Creutzfeldt‐Jakob Disease (CJD): Time from Symptom Onset Until Subnormal Magnetic Resonance Imaging (MRI) of brain

Background Abnormal MRI of brain is one out three supportive diagnostic criteria for CJD along with abnormal EEG and positive 14-3-3 protein when there rapidly progressive dementia (RPD), myoclonus, visual or cerebellar disturbance, pyramidal extrapyramidal dysfunction, akinetic mutism. can be normal in even the symptoms are advanced posing a challenge. The goal this study was to review cases RPD suspected due correlate findings. Methods Cohort patients and/or neuropsychiatric presentation suspicious over 10 years at our institution identified using EPIC Slicer Dicer tool search electronic medical records. Clinical markers including CSF (protein 14-3-3, RT-QuIC, total-tau), findings were analyzed determine sensitivity each early disease state. Results Total 25 identified. 4 confirmed have probable based on elevated total-tau. Initial suspicion later not considered high enough pursue analysis patients. 1 patient didn’t done technical error. 16 tested negative RT-QuIC. Out had which 3 24 MRI, couldn’t undergo incompatible cardiac pacemaker. suggestive initial 2 them studies. despite multiple CJD. first developed classic repeat 8 months from symptom onset 2nd such changes onset. These diagnosis by Conclusion While support correct clinical setting, test results don’t exclude repeated instrumental diagnosis.