Objective:

To analyze clinical data including MRI, biomarker, and EEG patterns in patients diagnosed with Creutzfeldt-Jakob Disease (CJD).

Background:

CJD is a rare, fatal, neurodegenerative prion-mediated disease. This study represents one of the largest single-center studies analyzing EEG and MRI data from patients diagnosed with CJD.

Design/Methods:

This is a retrospective study of patients diagnosed with CJD at a single-center hospital with long-term EEG monitoring data from 2006-2023. Clinical factors, MRI findings, and EEG reports were analyzed. Dipole localization mapping is in process with an epileptologist and electrodiagnostics expert.

Results:

31 patients met inclusion criteria. Preliminary results from this cohort reveal mean age 69.58 years, 77% Caucasian/white. Most common comorbidities were hypertension, hyperlipidemia, and diabetes mellitus. Two most common findings on exam were cognitive deficits and gait abnormalities. Ataxia/dysmetria, abnormal tone, and myoclonus were the most common abnormal movements. Average CSF results included: WBC 3, protein 53, glucose 74. 23 patients had 14-3-3 testing with 19 (82%) having positive results. Twenty patients had CSF RT-Quic testing with mixed results (positive, n=14, 70%; negative, n=3, 15%; indeterminate, n=3, 15%). Twenty patients also had elevated T-tau protein markers. Of the 30 patients with MR imaging, 26 (87%) showed abnormal diffusion restriction (cortical, n=23; subcortical, n=18; caudate, n=9; basal ganglia, n=8; thalamus, n=4; left predominant, n=6; right predominant, n=8). 27 patients had abnormal EEGs with focal slowing, periodic or continuous discharges, or asymmetric background. Further sub-analysis of EEG data and dipole localization mapping are pending completion.

Conclusions:

Diagnosing CJD is challenging, as clinical factors and physical exam can be nonspecific. MRI, EEG, and biomarker testing are helpful but imperfect. Further sub-analyses of EEG data that have not been performed in prior studies will yield new information about the electrographic changes seen in CJD.