The Predictive Value of Endpoint Quaking-Induced Conversion in Creutzfeldt-Jakob Disease

Budhram, Adrian; Taylor, Ryan G; Fuller, Jeff; Burneo, Jorge G.; Knox, J. David; Pasternak, Stephen

doi:10.1017/cjn.2019.72

Cited by 2 publications

(1 citation statement)

References 10 publications

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“…In the literature, only 10 cases of false-positive RT-QuIC or Endpoint-QuIC with clear diagnosis have been reported (see Table 5 ). They were diagnosed with vascular dementia [ 32 ], Alzheimer’s disease [ 25 ], mixed dementia [ 19 ], and tauopathies [ 35 , 37 ], immune-mediated encephalitis [ 20 , 35 , 38 ], and amyloid-associated vasculitis [ 39 ].…”

Section: Discussionmentioning

confidence: 99%

Application of real-time quaking-induced conversion in Creutzfeldt–Jakob disease surveillance

et al. 2023

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Background Evaluation of the application of CSF real-time quaking-induced conversion in Creutzfeldt–Jakob disease surveillance to investigate test accuracy, influencing factors, and associations with disease incidence. Methods In a prospective surveillance study, CSF real-time quaking-induced conversion was performed in patients with clinical suspicion of prion disease (2014–2022). Clinically or histochemically characterized patients with sporadic Creutzfeldt–Jakob disease (n = 888) and patients with final diagnosis of non-prion disease (n = 371) were included for accuracy and association studies. Results The overall test sensitivity for sporadic Creutzfeldt–Jakob disease was 90% and the specificity 99%. Lower sensitivity was associated with early disease stage (p = 0.029) and longer survival (p < 0.001). The frequency of false positives was significantly higher in patients with inflammatory CNS diseases (3.7%) than in other diagnoses (0.4%, p = 0.027). The incidence increased from 1.7 per million person-years (2006–2017) to 2.0 after the test was added to diagnostic the criteria (2018–2021). Conclusion We validated high diagnostic accuracy of CSF real-time quaking-induced conversion but identified inflammatory brain disease as a potential source of (rare) false-positive results, indicating thorough consideration of this condition in the differential diagnosis of Creutzfeldt–Jakob disease. The surveillance improved after amendment of the diagnostic criteria, whereas the incidence showed no suggestive alterations during the COVID-19 pandemic.

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Section: Discussionmentioning

confidence: 99%

Application of real-time quaking-induced conversion in Creutzfeldt–Jakob disease surveillance

et al. 2023

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Characterization of Laboratory-Confirmed Creutzfeldt-Jakob Disease From 3 Ontario Tertiary Care Centers Between 2012 and 2022: A Retrospective Cohort Study

Gaete,

Dalai,

Cabrera

et al. 2024

Open Forum Infectious Diseases

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Background Globally, Creutzfeldt-Jakob disease (CJD) affects one in one million people annually, but there is a paucity of recent Canadian data. This study summarizes epidemiology trends and diagnostic timelines of laboratory-confirmed CJD cases in three tertiary Ontario hospitals. Method Using laboratory information systems, we identified 30 patients with a laboratory-confirmed CJD diagnosis between 2012 and 2022 at three major tertiary hospitals in Ontario. Retrospective chart reviews were then completed. Results Patients had a mean of 2.2 hospital visits (SD, 1.2) prior to being admitted for testing. The most common symptom presentations included loss of coordination (63.3%), behavioral changes (60%), progressive mobility loss (53.4%), memory loss (50.0%), and involuntary movements (50.0%). Magnetic resonance imaging findings showed potential CJD in 76.7% of cases, and 56.7% exhibited periodic sharp wave complexes characteristic of CJD on electroencephalogram. The mean duration from symptom onset to microbiologic testing was 91 days (SD, 90.7). End-point quaking-induced conversion (EP-QuIC) testing of cerebrospinal fluid was positive in 90.0% of patients, while 83.3% tested positive for 14-3-3 on enzyme-linked immunosorbent assay. Elevated cerebrospinal fluid 14-3-3 levels significantly correlated with shorter duration from symptom onset to death (R2 = 0.71, F = 19.55, P = .0022). Post-diagnosis, 46.7% of patients were discharged home, 16.6% were transferred to external palliative care or hospice facilities, and 36.7% died during admission. The mean time from symptom onset to death was 121 days (SD, 120.7), and from diagnosis to death 35 days (SD, 83.9). Conclusions This study highlights the importance of early CJD consideration and laboratory testing when appropriate neurologic symptoms are present.

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The Predictive Value of Endpoint Quaking-Induced Conversion in Creutzfeldt-Jakob Disease

Cited by 2 publications

References 10 publications

Application of real-time quaking-induced conversion in Creutzfeldt–Jakob disease surveillance

Application of real-time quaking-induced conversion in Creutzfeldt–Jakob disease surveillance

Characterization of Laboratory-Confirmed Creutzfeldt-Jakob Disease From 3 Ontario Tertiary Care Centers Between 2012 and 2022: A Retrospective Cohort Study

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