Sporadic Creutzfeldt-Jakob Disease with RapidCognitive Decline and Cortical Ribboning: A Case Report
Bibliographic record
Abstract
Background: Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and universally fatal neurodegenerative disorder caused by the accumulation of misfolded prion proteins. Early-stage diagnosis is often delayed due to its initially non-specific presentation and broad differential diagnosis. Case Presentation: We describe a 75-year-old male who presented with new-onset dizziness and a pressure-like headache. Neurological examination revealed subtle left-sided ataxia, mild anomic aphasia, and possible left-leg neglect. Initial investigations, including non-contrast cranial CT and carotid angiography, were unremarkable. Cognitive screening using the Montreal Cognitive Assessment (MoCA) scored 17/30. Persistent neurological deficits prompted further evaluation, including lumbar puncture, electroencephalography, and magnetic resonance imaging of the brain. CSF analysis showed a mildly elevated white cell count and was positive for 14-3-3 protein. Although RT-QuIC testing was uninterpretable due to CSF blood contamination, markedly elevated total tau (>1765 pg/mL) with normal phosphorylated tau (pTau181) supported a diagnosis of prion disease. MRI demonstrated asymmetric cortical diffusion restriction and characteristic cortical ribboning. EEG revealed a diffuse encephalopathic pattern without periodic discharges. With the rapid evolution of cognitive dysfunction, cerebellar ataxia, and extrapyramidal signs, the clinical, radiological, and biochemical findings fulfilled diagnostic criteria for probable sporadic CJD. Conclusion: This case underscores the importance of a multimodal diagnostic approach in suspected CJD. In the absence of definitive RT-QuIC results or characteristic EEG changes, early recognition of MRI patterns and CSF biomarkers remains pivotal for timely diagnosis, appropriate counseling, and care planning.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.005 | 0.003 |
| Meta-epidemiology (broad) | 0.002 | 0.002 |
| Bibliometrics | 0.006 | 0.004 |
| Science and technology studies | 0.005 | 0.003 |
| Scholarly communication | 0.003 | 0.003 |
| Open science | 0.003 | 0.003 |
| Research integrity | 0.009 | 0.004 |
| Insufficient payload (model declined to judge) | 0.003 | 0.002 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".