Analysis of Clinical Features, Diagnostic Tests, and Biomarkers in Patients With Suspected Creutzfeldt-Jakob Disease, 2014-2021

Key Points Question What is the diagnostic utility associated with clinical features and tests historically associated with Creutzfeldt-Jakob disease (CJD) in patients evaluated in the modern era? Findings In this cohort study including 115 patients, the diagnostic performance of cerebrospinal fluid real-time quaking-induced conversion assays, total tau, and stereotyped signal anomalies on magnetic resonance imaging was high, while the diagnostic yield of myoclonus and periodic discharges on electroencephalography was low. The presence of myoclonus, visual or cerebellar findings, and elevated levels of protein 14-3-3 and total tau in cerebrospinal fluid were independently associated with shorter time to death. Meaning These findings may guide prioritization and interpretation of accessible tests in patients with suspected CJD.

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