Clinical and Diagnostic Characteristics of Creutzfeldt Jakob Disease: Retrospective Study in a Large Tertiary Care Center
Kanchan Kumari1, Gabriella Rizzo1, Daniel Zhou1, Kaeli Samson1, Daniel Murman1
1University of Nebraska Medical Center
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 ().
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.