13 Wide application of RT-QuIC testing and integration of results within diagnostic criteria have substantially improved recognition of affected patients, increasing prevalence estimates, broadening appreciation of the clinical phenotypes attributable to CJD, and permitting diagnoses to be established earlier in the clinical course. 10 - 12 The more recent discovery and validation of real-time quaking-induced conversion (RT-QuIC) assays capable of detecting malformed prion proteins in CSF has transformed the diagnostic approach to CJD, allowing the diagnosis of probable CJD to be established with higher confidence. 1 - 3 Diagnostic biomarkers include specific findings on brain magnetic resonance imaging (MRI ie, hyperintense signal and reduced diffusivity involving cerebral cortex and corpus striatum 4 - 7), characteristic electroencephalography (EEG) patterns (ie, periodic synchronous biphasic or triphasic sharp wave complexes 8, 9), and elevated cerebrospinal fluid (CSF) protein 14-3-3 level. Accordingly, the US Centers for Disease Control and Prevention (CDC) diagnostic criteria emphasize detection of a neuropsychiatric disorder or progressive dementia, as well as core clinical features (ie, visual or cerebellar disturbance, pyramidal or extrapyramidal dysfunction, and akinetic mutism) and myoclonus-a hallmark clinical sign. Visual or cerebellar features, myoclonus, and CSF 14-3-3 and T-tau levels may be associated with disease duration, justifying continued inclusion in the evaluation of patients suspected to have CJD.ĭiagnostic criteria for sporadic Creutzfeldt-Jakob disease (CJD) have historically emphasized archetypal clinical features and established diagnostic biomarkers. Multivariable linear regression confirmed shorter survival in patients with myoclonus (difference, −125.9 days P = .03), visual or cerebellar signs (difference, −180.2 days P < .001), elevated CSF protein 14-3-3 levels (difference, −193 days P < .001), and elevated T-tau level (difference for every 1000 pg/mL elevation, −9.1 days P = .04).Ĭonclusions and Relevance These findings suggest that CSF RT-QuIC, elevated CSF T-tau level, and stereotyped magnetic resonance imaging anomalies were associated with the diagnosis of CJD, while other clinical findings (eg, myoclonus), stereotyped electroencephalography anomalies, and CSF protein 14-3-3 levels offered less diagnostic value. By comparison, biomarkers with good diagnostic sensitivity at presentation included RT-QuIC (66 of 71 patients ), CSF total tau (T-tau) level greater than 1149 pg/mL (81 of 92 patients ), and characteristic signal anomalies on magnetic resonance imaging (88 of 115 patients ). The sensitivity of clinical markers (myoclonus) and tests historically considered in patients with suspected CJD was poor (eg, stereotyped electroencephalography anomalies: 17 of 105 patients elevated CSF protein 14-3-3 levels: 54 of 90 patients ). Mean (SD) age at symptom onset was 64.8 (9.4) years, and 68 patients were women (59%). Results A total of 115 patients were identified, including 40 patients (35%) with definite CJD. Main Outcomes and Measures The outcomes of interest were the sensitivity and prognostic value of clinical features and accessible diagnostic tests at presentation with possible CJD.

Data were analyzed October 2021 to January 2022.Įxposures Dominant presentation, clinical features, and diagnostic tests associated with CJD. Participants included patients with definite or probable CJD assessed from 2014 to 2021. Objective To evaluate clinical features and diagnostic testing in patients presenting with CJD and determine the associations of these features with prognosis.ĭesign, Setting, and Participants This cohort study incorporated data from electronic medical records of patients with CJD treated at Mayo Clinic Enterprise tertiary care centers in Rochester, Minnesota Jacksonville, Florida and Scottsdale, Arizona. It is unclear how expanded recognition of affected patients may affect the diagnostic and prognostic relevance of clinical features and diagnostic tests historically associated with CJD. Importance Detection of prion proteins in cerebrospinal fluid (CSF) using real-time quaking-induced conversion (RT-QuIC) assays has transformed the diagnostic approach to sporadic Creutzfeldt-Jakob disease (CJD), facilitating earlier and more complete recognition of affected patients. Shared Decision Making and Communication.Scientific Discovery and the Future of Medicine.Health Care Economics, Insurance, Payment.Clinical Implications of Basic Neuroscience.Challenges in Clinical Electrocardiography.

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