In Creutzfeldt-Jakob disease (CJD) (synonyms: HSE (human spongiform encephalopathy; Creutzfeldt-Jakob syndrome; dementia in Creutzfeldt-Jakob disease; dementia in Creutzfeldt-Jakob syndrome; Heidenhain syndrome; Corticostriatospinal degeneration; Organic psychosis due to Creutzfeldt-Jakob disease; Spastic pseudosclerosis with dementia; Subacute spongioform encephalopathy; ICD-10-GM A81. 0: Creutzfeldt-Jakob disease) is a disease of the central nervous system that leads to progressive dementia.
The disease belongs to the group of spongiform encephalopathies in which spongiform brain changes occur with rapid, significant impairment of cognitive and motoneurological abilities. It is one of the prion diseases. Prions are pathogens made of natural, misfolded proteins produced by the body.
The sporadic form of Creutzfeldt-Jakob disease The sporadic form of Creutzfeldt-Jakob disease (sCJD) is not transmissible from person to person. is not transmissible from person to person.
Transmission (route of infection) of the iatrogenic form of CJD from person to person can occur via direct contact with infectious tissue (contact infection). This is possible through contaminated neurosurgical instruments or through meningeal and corneal transplants. The disease can also be passed on via growth hormones extracted from the pituitary gland of deceased persons. It is also likely that the pathogen can be transmitted between people through blood and blood products. Transmission of the new variant of CJD (vCJD) occurs through prions that enter the body by eating infected food (beef or other products from cattle).
The incubation period (time from infection to onset of disease) is usually years to decades.
Several forms of CJD can be distinguished:
- Sporadic form (sCJD) (about 85-90% of cases) – caused by a rare mutation.
- Hereditary form (about 10% of cases) – genetic, familial clustered forms such as lethal familial insomnia, Gerstmann-Sträusler-Scheinker syndrome; these are all autosomal dominant heritable with almost 100% penetrance
- Iatrogenic form (about 5% of cases) – caused by transmission of cadaveric parts such as corneal grafts, injections of human growth hormone, transplantation of human meninges.
- New variant CJD (nvCJD) – caused by the transmission of BSE (bovine spongiform encephalopathy) (through the food chain and blood transfusions) to humans; the disease has occurred since 1995.
Peak incidence: the average age of onset for the sporadic form is between 55 and 65 years of age. The hereditary form manifests earlier. For the new variant of CJD, the age of onset is less than 40 years.
The incidence (frequency of new cases) is about 0.1-0.15 cases per 100,000 inhabitants per year (in Germany); 0.15-0.2 in Austria.
Course and prognosis: Within two years, the disease leads to rapidly progressive (progressive) dementia. The hereditary form progresses more slowly. All spongiform encephalopathies are lethal (in the majority of cases within 6 months). Depending on the form of CJD, survival is three to 14 months. The median survival time of nvCJD is one year.
In Germany, sporadic CJD, iatrogenic CJD, and new variant CJD are notifiable under the Infection Protection Act (IfSG). Notification must be made by name in cases of suspected disease, illness, and death.
