Abstract Details

Title Factors Influencing Time to Diagnosis of Creutzfeldt Jakob Disease

Topic Aging, Dementia, and Behavioral Neurology

Presentation(s) P10 - Poster Session 10 (11:45 AM-12:45 PM)

Poster/Presentation
Number 9-013

Objective To describe factors leading to delay in diagnosis of CJD.

Background Creutzfeldt Jakob Disease (CJD) is a rare prion disease that causes rapidly progressive dementia (RPD) and is always fatal. CJD can be challenging to diagnose, sharing clinical features with other forms of dementia and various encephalopathies.

Design/Methods With IRB approval, we reviewed medical records of patients diagnosed with definitive or probable CJD from 1/1/2012 to 12/31/2022 admitted at our tertiary care hospital. We extracted demographic, clinical, and imaging data and analyzed their relationships based on time to Real-Time Quaking-Induced Conversion (RT-QuIC) testing and a CJD diagnosis.

Results We identified 25 patients who met the above criteria. Only 4 received brain biopsy, while other 21 had probable CJD. The median time from initial medical presentation to documented suspicion for RPD was 47 days (IQR: 16, 104) and to RT-QuIC result was 89 days (IQR: 35, 133). On first MRI and EEG, 70% patients had diffusion restriction, 26% patients had periodic sharp wave complexes. 28% and 25% of patients received ≥3 brain MRI scans and ≥3 EEG studies, respectively. Patients who presented with predominant psychiatric presentation, comorbidities, and lab abnormalities suggestive of toxic-metabolic encephalopathy or weakly positive autoantibodies had delay in CJD diagnosis. When comparing patient’s gender, age, or individual myoclonic, cerebellar, or extrapyramidal symptoms on initial presentation in relation to time to RT-QuIC testing, there were no significant differences. Mean time for rural residents (n = 9) to RT-QuIC was 44.14 days (SD: 33.84) versus for urbanites (n = 16) with 158.58 days (SD: 216.91) (p=0.09).

Conclusions Diagnostic yield was higher when LP was performed over repeat ancillary testing, preferentially supporting LP when clinicians suspect an unusual diagnosis. Delays in diagnosis of CJD are likely due to confounding data suggesting a different diagnosis.

Authors/Disclosures
Kanchan Kumari, MBBS (University of Nebraska) PRESENTER	Dr. Kumari has nothing to disclose.
Gabriella Rizzo, MD (UNMC)	Dr. Rizzo has nothing to disclose.
Daniel Zhou, MD (University of Pennsylvania)	The institution of Dr. Zhou has received research support from American Epilepsy Society. The institution of Dr. Zhou has received research support from National Institutes of Health.
Kaeli Samson	No disclosure on file
Daniel L. Murman, MD, FAAN (University of Nebraska Medical Center)	The institution of Dr. Murman has received research support from Biogen. The institution of Dr. Murman has received research support from EIP Pharma. The institution of Dr. Murman has received research support from Eli Lilly & Co.. The institution of Dr. Murman has received research support from Functional Neuromodulation. The institution of Dr. Murman has received research support from Roche Pharmaceuticals.

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