Creutzfeldt-Jakob disease
Enable an AI agent to recognise a suspected or established Creutzfeldt-Jakob disease case, track diagnostic confidence and progression, and identify appropriate clinical, care and prion-safety actions.
Research draft, second pass
A second pass drafted this model: the structure a model of this thing needs, and what is known about it in the world. The line under this one says how the second half was obtained - researched against sources, or recalled without web access, in which case nothing here was read anywhere and every claim is a lead to verify. Unreviewed either way.
Researched by: Codex + Grok
Purpose and description
Enable an AI agent to recognise a suspected or established Creutzfeldt-Jakob disease case, track diagnostic confidence and progression, and identify appropriate clinical, care and prion-safety actions.
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It can be Assemble a dated CJD evidence summary for specialist review.; Compare recorded evidence with a named diagnostic framework and identify missing or contradictory information.; Track neurological decline and surface changes requiring reassessment of support needs.; Flag relevant tissue or instrument exposures for infection-prevention review.; Route genetic, surveillance and post-mortem questions to the responsible services.; Record clinician-approved care decisions and distinguish routine care from investigational interventions..
Distinguishing features
Assess whether cognitive and neurological deterioration progresses over weeks or months rather than the usual slower course of common dementias; tempo supports recognition but cannot establish CJD alone. [CDC clinical overview](https://www.cdc.gov/creutzfeldt-jakob/hcp/clinical-overview/index.html)
Evaluate prion-seeding evidence from RT-QuIC alongside the clinical syndrome; a positive result supports probable sporadic CJD under applicable criteria rather than independently establishing definite disease. [CDC diagnostic criteria](https://www.cdc.gov/creutzfeldt-jakob/hcp/clinical-overview/index.html)
Check MRI distribution, EEG findings and alternative explanations together; characteristic cortical or striatal MRI abnormalities and periodic sharp-wave complexes contribute evidence rather than acting as stand-alone diagnoses. [CDC diagnostic criteria](https://www.cdc.gov/creutzfeldt-jakob/hcp/clinical-overview/index.html)
Distinguish a possible variant presentation through its combination of early psychiatric symptoms, persistent painful sensory symptoms and characteristic pulvinar MRI findings; apply variant-specific assessment rather than assuming sporadic-CJD criteria transfer. [CDC variant CJD overview](https://www.cdc.gov/variant-creutzfeldt-jakob/hcp/clinical-overview/index.html)
Require documented neuropathological or disease-specific brain-tissue evidence for a definite classification under the selected criteria, keeping it separate from clinical probability. [CDC clinical overview](https://www.cdc.gov/creutzfeldt-jakob/hcp/clinical-overview/index.html)
Scope
+ Evidence supporting or challenging a CJD diagnosis and its documented certainty.
+ Clinical onset, neurological phenotype, progression and functional consequences.
+ Sporadic, genetic, iatrogenic or variant classification and its supporting evidence.
+ CJD-specific tissue, procedure and instrument exposure concerns.
+ Specialist review, supportive care, surveillance and diagnostic follow-up needs.
- The person's complete longitudinal health record.
- Full models of alternative causes of rapidly progressive neurological decline.
- Other human prion diseases, including kuru, fatal familial insomnia and Gerstmann-Sträussler-Scheinker disease.
- Animal prion diseases and food-chain management.
- Laboratory operating procedures and instrument decontamination protocols.
- Relatives' independent genetic-risk assessments and medical records.
Characteristics
- Diagnostic classification
- Under investigation, possible, probable, definite, alternative diagnosis established; criteria system and version required Separates suspicion from established evidence and makes classification changes auditable.
- Disease form
- Sporadic, genetic, iatrogenic, variant, unresolved; supporting evidence recorded separately Selects relevant diagnostic, exposure and family-assessment pathways.
- Time since clinical onset
- Days or weeks, with onset estimate and uncertainty interval Makes the observed rate of decline interpretable.
- Neurological phenotype
- Dated presence, absence or unknown status for cognitive, cerebellar, visual, movement, pyramidal and psychiatric manifestations Supports recognition of typical and atypical presentations.
- Prion-seeding assay evidence
- Positive, negative, indeterminate, pending or not performed; specimen, assay, laboratory and date Preserves the actual result and testing context for specialist interpretation.
- MRI and EEG evidence
- Links to dated reports, images or recordings and specialist interpretations Allows reported patterns and disagreements to be examined rather than reduced to a diagnostic checkbox.
- PRNP evidence
- Link to consented genetic report, variant classification and phenotype interpretation, or not assessed Separates genetic findings from an unsupported assumption of inherited CJD.
- Functional dependence
- Dated communication, mobility, swallowing and daily-care abilities; named scale and score when used Connects progression to immediate support needs.
- Potential prion exposure
- Links to implicated procedures, biological products, tissues or instruments; suspected, documented or excluded Supports exposure investigation without confusing exposure with causation.
- Procedure-specific precaution status
- Assessment needed, precautions specified, implemented, reviewed or closed; responsible service and governing guidance Connects suspected disease to the relevant handling decisions and their accountable owners.
Also called
Where this came from
wikidata · CC0 1.0
Drafted structure
Bundle to layer to finding to question, as the second pass will find it: 6 bundles · 11 layers · 18 findings · 28 questions.
CJD identity and classification Represent which CJD concept is being considered and how confidently the case is classified.
A disease name alone obscures differences between clinical suspicion, confirmed disease and disease form.
Disease form
Separate etiological attribution from the presence of a CJD-compatible illness.
Form attribution
Record the proposed sporadic, genetic, iatrogenic or variant form, its evidence and unresolved alternatives.
- Which CJD form is proposed, and what findings support that attribution? definition
- Does the evidence indicate CJD, another prion disease or an unresolved prion syndrome? boundary
Diagnostic certainty
Make the applicable criteria and the basis of classification explicit.
Criteria-based status
Preserve the criteria version, assessor, assessment date and evidence behind each diagnostic status.
- Which diagnostic framework and version apply to this proposed CJD form? provenance
- Which required elements are met, missing or contradicted, and who assigned the current status? measurement
Neurological course and dependence Describe the evolving syndrome and the abilities it affects.
The sequence and speed of deterioration influence recognition, reassessment and care planning.
Onset and phenotype
Capture the first manifestations and the subsequent neurological pattern.
Dated syndrome trajectory
Separate observed symptoms from retrospective reports and document uncertainty in onset.
- What were the earliest cognitive, visual, cerebellar, psychiatric or movement changes, and when did they begin? measurement
- Which changes were directly examined, reported by caregivers or inferred retrospectively? provenance
Functional progression
Connect serial neurological assessments to dependence and communication.
Changing care needs
Record losses of mobility, swallowing, communication and daily-care ability without imposing an unsupported universal stage.
- How have mobility, swallowing, communication and daily-care abilities changed between dated assessments? measurement
- Which changes require prompt clinical review or revision of the support plan? action
Diagnostic evidence and mimics Organise investigations, their limitations and competing explanations.
CJD assessment requires converging evidence while preserving opportunities to identify alternative diagnoses.
Investigation interpretation
Keep prion assays, imaging, electrophysiology and tissue findings individually interpretable.
Test results in context
Record results with specimen quality, timing, method and specialist interpretation, including discordance.
- What do RT-QuIC, MRI, EEG, CSF injury markers and any tissue examination show, and when were they obtained? measurement
- What assay, specimen or interpretation limitations could explain negative, indeterminate or conflicting results? boundary
Alternative diagnoses
Maintain explicit competing explanations for the rapidly progressive syndrome.
Mimic evaluation
Track clinician assessment of autoimmune, infectious, seizure-related, toxic-metabolic, vascular and other degenerative explanations.
- Which alternative explanations remain plausible, and what evidence supports or weakens each? boundary
- Which unresolved alternative requires further investigation or clinician-directed treatment before diagnostic closure? action
Origin and prion exposure Represent inherited or acquired attribution and procedure-specific transmission concerns.
The origins of a case and the risks arising from particular tissue contacts require separate evidence and decisions.
Genetic and acquired attribution
Assess family, molecular and exposure evidence without treating an association as proof.
Attribution evidence
Link PRNP interpretation, family history and relevant medical or other exposure histories to the proposed disease form.
- What verified family history, PRNP findings or exposure records support the proposed origin? provenance
- What evidence distinguishes a causal attribution from an incidental variant or historical exposure? boundary
Procedure and tissue risk
Associate handling decisions with the actual procedure, tissues and diagnostic context.
Prion-safety disposition
Record specialist decisions for potentially contaminated instruments and materials; tissue contact and diagnostic suspicion affect handling requirements. [CDC infection control](https://www.cdc.gov/creutzfeldt-jakob/hcp/infection-control/index.html)
- Which procedures, tissues, specimens or instruments are implicated, and how certain is the contact history? measurement
- Which current local prion guidance governs handling, and who authorises instrument quarantine, reprocessing, disposal or release? action
Care decisions and case follow-through Connect the disease assessment to supportive care, accountable communication and eventual case resolution.
Rapid deterioration makes timely care decisions and continuity of responsibility central to the model.
Symptom support and preferences
Record disease-related burdens, care goals and the people authorised to make decisions.
Individualised care plan
Link symptom burden and functional decline to agreed care measures, decision-making capacity and documented preferences.
- Which symptoms or functional losses currently cause distress, and what benefit or burden follows the agreed interventions? measurement
- What preferences, capacity assessment and authorised decision-maker govern changes to supportive or end-of-life care? action
Specialist, surveillance and confirmation
Track responsible services, reporting decisions and further diagnostic opportunities.
Case follow-through
Record referral, jurisdiction-specific notification, consented post-mortem assessment and updates to the final classification.
- Which specialist or surveillance service is responsible, and what notification requirements apply in this jurisdiction? action
- Has post-mortem diagnostic assessment been discussed and consent documented, and how will resulting evidence update the case? action
Evidence and external alignment What the world already says about this thing, gathered so the model can be checked against it.
A model that cannot be lined up against existing standards, identifiers and practice cannot be adopted by anyone who already uses them.
Reported evidence
Findings from the breadth pass, kept separate from the structural claims.
Kinds and varieties
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- string
- Which of these kinds and varieties hold for the sense of Creutzfeldt-Jakob disease this model covers, and on what evidence? provenance
Identifiers and schemes
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- string - string - string
- Which of these identifiers and schemes hold for the sense of Creutzfeldt-Jakob disease this model covers, and on what evidence? provenance
Standards and regulation
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- string
- Which of these standards and regulation hold for the sense of Creutzfeldt-Jakob disease this model covers, and on what evidence? provenance
Real-world use
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- string
- Which of these real-world use hold for the sense of Creutzfeldt-Jakob disease this model covers, and on what evidence? provenance
Typical measurements
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- string - string - string
- Which of these typical measurements hold for the sense of Creutzfeldt-Jakob disease this model covers, and on what evidence? provenance
Failure modes and hazards
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- string
- Which of these failure modes and hazards hold for the sense of Creutzfeldt-Jakob disease this model covers, and on what evidence? provenance
Regional variation
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
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- Which of these regional variation hold for the sense of Creutzfeldt-Jakob disease this model covers, and on what evidence? provenance
Neighbouring kinds and how to tell them apart
Reported by the breadth pass; each item needs checking against its source before it becomes normative.
- string - string
- Which of these neighbouring kinds and how to tell them apart hold for the sense of Creutzfeldt-Jakob disease this model covers, and on what evidence? provenance
Sources
- string - string
What the second pass must settle
- Does the registry intend this entry to encompass variant CJD, or does an existing authoritative model require a cross-reference instead?
- Which diagnostic and surveillance frameworks should govern classification across the intended jurisdictions, including genetic and variant cases?
- What assay-specific evidence is needed to represent the meaning of negative or discordant RT-QuIC results across disease forms and stages?
- Which functional assessment instrument and reassessment triggers best represent CJD progression in the intended care setting?
- Which local rules govern prion precautions, exposure investigation, notification, genetic consent and post-mortem confirmation?