Creutzfeldt-Jakob Disease

There are a number of human prion diseases: sporadic CJD, iatrogenic CJD, variant CJD, kuru, Gerstmann-Straussler-Scheinker disease, and fatal familial insomnia.

Sporadic Creutzfeldt-Jakob Disease. The cardinal manifestations of Creutzfeldt-Jakob disease are dementia, myoclonus, and ataxia. Patients typically present with cognitive difficulty and ataxia and subsequently develop myoclonus. Diffusion-weighted magnetic resonance (MR) and fluid attenuated inversion recovery (FLAIR) show increased signal in the cortical ribbon, putamen, caudate nuclei, and thalamus. Electroencephalography (EEG) shows bisynchronous periodic sharpwave discharges that may be time-locked to myoclonus. The presence of a CSF pleocytosis should initiate a search for another disease because an inflammatory response is characteristically absent. The CSF 14-3-3 protein has a low specificity and can be increased in a number of CNS disorders. CSF 14-3-3 protein is elevated in 95% of patients with sporadic Creutzfeldt-Jakob disease.

Iatrogenic Creutzfeldt-Jakob disease is due to prion exposure from contaminated surgical equipment, electrode implantation, dural mater grafts, cadaveric-derived human growth hormone, and corneal or organ transplantation. The clinical presentation of iatrogenic CJD depends somewhat on the route of intracerebral inoculation, with some cases resembling that described for sporadic CJD, and others, a cerebellar syndrome.

Variant CJD is acquired from ingestion of contaminated meat and typically consists of behavioral and psychiatric symptoms, peripheral sensory disturbances, and cerebellar ataxia.

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