Abstract Details

Title Clinical and Diagnostic Characteristics of Creutzfeldt Jakob Disease: Retrospective Study in a Large Tertiary Care Center

Topic Aging, Dementia, and Behavioral Neurology

Presentation(s) P5 - Poster Session 5 (5:30 PM-6:30 PM)

Poster/Presentation
Number 9-001

Objective Identifying common clinical features of Creutzfeldt Jakob Disease.

Background Creutzfeldt Jakob Disease (CJD) is the most common type of prion disease. It is important to distinguish patients with rapidly progressive dementia (RPD) due to CJD versus those due to other causes with potential treatment early in the disease course.

Design/Methods We reviewed medical records of 25 patients with final diagnosis as definitive (pathologically proven, n = 4) and probable CJD (with positive Real-Time Quaking-Induced Conversion [RT-QuIC], n = 19) admitted from 1/1/2012 to 12/31/2022, at our tertiary care hospital. We collected demographic and clinical data.

Results The median time from symptom onset to initial presentation to medical care was 101 days (IQR: 41, 212). On initial presentation 76% patients had dementia and 60% met criteria for RPD. Later in the disease course, 100% had dementia and 92% met criteria for RPD. Patients presented with non-specific symptoms of dizziness 24%, vertigo, vision changes, weight loss (each 12%), fatigue 8%. Patients were seen by other subspecialists ophthalmology 16%, ENT 16%, cardiology 8%. Autoimmune encephalopathy and neurodegenerative disorders were in the differential diagnosis in 40% and 28%, respectively. B12 deficiency 20% and drug use disorder 12% were common comorbidities seen. CSF leukocytosis seen in 3/24, protein elevation >45 mg/dl in 16/24 (median 55.5; IQR: 40.5, 70.25), total tau >1149 pg/ml in 16/18, positive 14-3-3 in 11/18 patients. 26% patients had periodic sharp wave complex on electroencephalogram (EEG).

Conclusions Dementia and RPD are key clinical features of CJD, although they may not be present initially. CJD can present with atypical features resulting in referrals to other subspecialists. These co-morbidities can confound the real picture. Continue to consider a prion diagnosis if there is continued rapid cognitive decline, despite treatment of identified co-morbidities. Early spinal fluid testing for prion biomarkers can expedite an accurate diagnosis of prion dementia.

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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