What is the management and treatment approach for a geriatric patient with Creutzfeldt-Jakob disease (CJD) presenting with rapidly progressing dementia and neurological symptoms?

Management of Creutzfeldt-Jakob Disease

There is no disease-modifying treatment for CJD; management is entirely supportive and palliative, focusing on symptom control, family counseling, and end-of-life care planning. 1, 2

Diagnostic Confirmation

The diagnosis must be established through a systematic multimodal approach before initiating palliative care planning:

Primary Diagnostic Testing

• CSF RT-QuIC is the gold standard biomarker with sensitivity of 94-96% (second-generation protocols) and specificity of 99-100%, and RT-QuIC positivity alone is now sufficient for probable sCJD diagnosis even when classical criteria are incomplete 3, 1

• MRI brain with DWI and FLAIR sequences is the optimal initial imaging modality, showing characteristic T2 hyperintensity and diffusion restriction in cortical regions (cortical ribboning), caudate nucleus, and putamen 3, 1, 2

• CSF 14-3-3 protein (cut-off >20,000 AU/mL) and total tau (cut-off >1,300 pg/mL) provide supportive evidence but are less specific than RT-QuIC 3

• EEG may demonstrate periodic sharp wave complexes (PSWCs) with 1:1 correlation to myoclonic jerks, though this finding is more common in typical cases and may be absent in atypical presentations 3, 1

Additional Diagnostic Workup

• PRNP gene sequencing should be performed to exclude genetic CJD and determine codon 129 polymorphism status, which assists in interpreting biomarker results and predicting disease subtype 3

• Exclude alternative diagnoses through comprehensive evaluation, as 17% of rapidly progressive dementia cases have potentially treatable etiologies including autoimmune encephalitis (50%), infectious causes (13%), psychiatric disorders (13%), malignancy (13%), and toxic-metabolic conditions (10%) 3

Supportive and Palliative Management

Symptom Control

• Myoclonus management: Antiepileptic medications may be trialed, though clinical benefit is often limited as demonstrated in typical cases where enforced antiepileptic medication showed no improvement 3

• Behavioral and psychiatric symptoms: Address agitation, anxiety, and personality changes with appropriate pharmacologic and non-pharmacologic interventions 1

• Pain management: Implement comprehensive pain assessment and treatment protocols as disease progresses 1

End-of-Life Care Planning

• Early palliative care consultation is essential given the universally fatal prognosis with median survival of approximately 5 months from symptom onset (range 2-11 months depending on subtype) 3, 1

• Family counseling and education regarding disease trajectory, expected clinical deterioration to akinetic mutism, and anticipatory guidance for end-stage care 1, 2

• Anticipatory medications should be prescribed for terminal phase symptoms including respiratory secretions, dyspnea, and agitation 2

• Goals of care discussions should occur early, addressing preferences for hospitalization, artificial nutrition, and resuscitation status 1

Critical Pitfalls to Avoid

• Do not pursue experimental therapies outside formal research protocols, as this offers false hope and diverts focus from quality end-of-life care 1

• Do not delay palliative care referral while awaiting definitive diagnosis; early identification enables appropriate supportive interventions 4

• Recognize atypical presentations: Some patients present with only rapidly progressive dementia without classic features, and biomarker-positive cases should be classified as probable sCJD even when full clinical criteria are not met 3

• Follow-up testing may be necessary if initial biomarkers are negative, as sensitivity is reduced in early disease stages and certain molecular subtypes 3

Infection Control Considerations

• Standard sterilization does not reliably eliminate prion infectivity; approximately 10 successive decontamination cycles are required to reduce infectivity to negligible levels on surgical instruments 5

• Notify appropriate personnel regarding infection control precautions for any invasive procedures, as microscopic tissue traces can transmit disease 5

Prognosis Communication

• Median survival is 5 months from symptom onset for typical sporadic CJD (MM/MV1 subtype), though atypical subtypes like MM2C may have slower progression with survival up to 11 months 3

• Death typically results from complications including infections and comorbidities in the setting of progressive neurodegeneration and immobility 4

• All cases are universally fatal regardless of intervention, and patients progress to akinetic mutism before death 1, 2, 6