About Creutzfeldt-Jakob Disease
Creutzfeldt-Jakob disease is the most common human prion disease, caused by misfolding and aggregation of the prion protein (PrP) encoded by PRNP. Sporadic CJD (sCJD) accounts for ~85% of cases and arises spontaneously; familial CJD is caused by PRNP mutations; variant CJD (vCJD) is linked to BSE ('mad cow disease') exposure. The disease causes rapidly progressive dementia, myoclonus, cerebellar ataxia, and visual disturbances, with death typically within 1 year of onset in sCJD.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Creutzfeldt-Jakob Disease trials.
RT-QuIC assay on CSF is now the gold standard diagnostic test — positive result is required for most trial enrollment
CJD subtype (sporadic, familial, variant) determines trial eligibility — PRNP genotyping (codon 129 MM/MV/VV) is required
Rapidly progressive nature requires urgent trial contact — eligibility windows may be only weeks from symptom onset
Brain MRI DWI pattern (cortical ribboning, basal ganglia signal) and EEG periodic sharp waves are required diagnostic documentation
Patient Resources
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