Abstract
Objectives: Diagnostic criteria emphasize the use of sensitive and disease-specific tests to distinguish patients with rapidly progressive dementia (RPD) due to Creutzfeldt-Jakob disease (CJD) versus other causes (‘mimics’). These tests are often performed in specialized centers, with results taking days to return. There is a need to leverage clinical features and rapidly reporting tests to distinguish patients with RPD due to CJD early in the symptomatic course.
Methods: In this case-control series, clinical features and the results of diagnostic tests were compared between mimics (n=11) and patients with definite (pathologically proven, n=33) or probable CJD (with positive RT-QuIC, n=60). Patients were assessed at Mayo Clinic Enterprise or Washington University from January 2014 to February 2021. Mimics were enrolled in prospective studies of RPD; mimics met diagnostic criteria for probable CJD but did not have CJD.
Results: Mimics were ultimately diagnosed with autoimmune encephalitis (n=6), neurosarcoidosis, frontotemporal lobar degeneration with motor neuron disease, dural arteriovenous fistula, cerebral amyloid angiopathy with related inflammation, and systemic lupus erythematous with polypharmacy. Age at symptom onset, sex, presenting features, and MRI and EEG findings were similar in CJD cases and mimics. Focal motor abnormalities (49/93, 11/11), CSF leukocytosis (4/92, 5/11) and protein >45 mg/dL (39/92, 10/11) were more common in mimics (p<0.01). Positive RT-QuIC (77/80, 0/9), total-tau >1149 pg/mL (75/83, 2/10) and ‘positive’ 14-3-3 (74/91, 4/11) were more common in CJD cases (all p<0.01). Neural-specific autoantibodies associated with autoimmune encephalitis were detected within the serum (5/9) and CSF (6/10) of mimics; nonspecific antibodies were detected within the serum of 9/71 CJD cases.
Conclusions: Immune-mediated, vascular, granulomatous, and neurodegenerative diseases may mimic CJD at presentation and should be considered in patients with early motor dysfunction and abnormal CSF studies. The detection of atypical features—particularly elevations in CSF leukocytes and protein—should prompt evaluation for mimics and consideration of empiric treatment while waiting for the results of more specific tests.
- © 2022 American Academy of Neurology
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