Creutzfeldt–Jakob disease

Creutzfeldt–Jakob disease is a rare, rapidly progressive neurodegenerative disease caused by prions. It typically produces dementia and movement problems, with death often occurring within months of symptom onset.

Prion: An infectious protein that propagates by inducing a misfolded form of a normal protein. Misfolded prion protein drives the brain damage in this disease.
Sporadic Creutzfeldt–Jakob disease: The commonest form of Creutzfeldt–Jakob disease, arising without a known external exposure or inherited cause. Most cases occur sporadically, with no identified source.
Electroencephalography: A method that records electrical activity from the brain using scalp electrodes. Periodic EEG patterns can support diagnosis, though they are not present in every case.
Dementia: A decline in cognitive abilities severe enough to interfere with independent daily life. Rapidly worsening cognition is a defining clinical consequence of the disease.
PRNP: The gene that encodes the prion protein in humans. Inherited variants in this gene can cause familial forms of the disease.
Familial Creutzfeldt–Jakob disease: An inherited form of Creutzfeldt–Jakob disease caused by pathogenic PRNP variants. It shows how a genetic change can initiate prion disease.
Diffusion-weighted MRI: An MRI technique sensitive to the movement of water molecules in tissue. Characteristic signal abnormalities can help identify affected brain regions.
Myoclonus: Sudden, brief, involuntary muscle jerks. These jerks commonly emerge as neurological impairment advances.
Prion protein: A normal cell-surface protein that can misfold into disease-associated forms. Its abnormal folding and accumulation are central to disease pathology.
Iatrogenic Creutzfeldt–Jakob disease: Creutzfeldt–Jakob disease transmitted through certain contaminated medical materials or procedures. Rare medical transmissions established that prions can spread between people.

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