prion disease pathway Creutzfeldt-Jakob disease pathway CJD Creutzfeldt-Jakob disease - a rare prion disease, associated with a number of different mutations of the prion protein gene, existing in sporadic, familial (as an autosomal dominant), and infectious forms, with onset usually in middle life, and having a wide variety of clinical and pathological features. The most commonly seen are varying degrees of spongiform degeneration of neurons, neuronal loss, gliosis, and amyloid plaque formation, accompanied by rapidly progressive dementia, myoclonus, motor disturbances. PW:0000265 pathway