• Clinical science

Creutzfeldt-Jakob disease


Creutzfeldt-Jakob disease (CJD) is a neurodegenerative condition that is caused by misfolded protein particles (prions). Prion diseases are very rare overall. CJD is the most common prion disease in humans. In most cases, no direct cause of CJD can be established. However, there are also familial forms due to gene mutation or acquired forms as prion particles can be transmitted between individuals, making CJD an infectious disease. Accumulation of prion particles in the brain eventually leads to neuronal degeneration and clinical onset of the disease. The cardinal symptoms of CJD are rapidly progressive dementia and myoclonus. Most patients die within 12 months following disease manifestation. Imaging, EEG, and cerebrospinal fluid (CSF) tests provide diagnostic evidence, although a definite diagnosis can only be made via biopsy or autopsy. To date, no curative treatment is available.



Epidemiological data refers to the US, unless otherwise specified.


CJD is divided into three different types:



  • CJD is caused by “infectious” prions (PrPSc) that are usually produced endogenously but may also be acquired (see “Etiology”).
  • PrPSc → conformational change of physiological PrPc formation of condensation centers + PrPSc accumulationplaque formation; neuronal cell death progression to spongiform encephalopathy (seen as intracytoplasmic vacuoles within the neurons of cerebral and cerebellar cortex on H&E)


Clinical features

Rapidly progressive dementia and myoclonic jerks are the hallmarks of Creutzfeldt-Jakob disease!



Instrumental diagnostics


Differential diagnoses

Other diseases commonly associated with the development of dementia:

The differential diagnoses listed here are not exhaustive.


  • No curative therapy available
  • Symptomatic treatment and eventually palliative care

Following disease manifestation, most patients die within 12 months, usually from complications such as pneumonia!