Creutzfeldt-Jakob disease: causes, symptoms, diagnosis, treatment

The Creutzfeldt-Jakob disease is a sporadic or familial prion disease. Bovine spongiform encephalopathy (cow rabies) is considered as a variant of CJD.

Creutzfeldt-Jakob disease is manifested by the development of dementia, myoclonic seizures and other neurological disorders; death occurs in 1-2 years. Infection can be prevented by observing precautions when working with infected tissues and using bleach to clean contaminated tools. Treatment is symptomatic.

Creutzfeldt-Jakob disease usually affects people older than 40 years (mean age is 60 years). The disease is found all over the world; the incidence rate is higher among the Jews of North Africa. Most cases are sporadic, but 5 to 15% are hereditary diseases transmitted by the autosomal dominant type. With the hereditary form of CJD, the disease debuts earlier and has a longer duration. Creutzfeldt-Jakob disease can be transmitted by iatrogenic pathway (for example, after transplantation of corpus coronary or dura mater, using stereotactic intracerebral electrodes or the use of growth hormone prepared from human pituitary).

The new variant of Creutzfeldt-Jakob disease (nWBC) has become most widespread in the UK. In the early 80s, due to non-strict regulations, the processed animals infected (pruritus, prion sickness of sheep) were trapped in feed for cattle. Thousands of animals became ill with bovine spongiform encephalopathy (BSE), called cow madness. People who consumed meat from infected cattle developed Creutzfeldt-Jakob disease.

Due to the long incubation period of nRBC, the link between the disease and the infected meat was not established until the NWBC did not develop into an epidemic that was later eliminated by massive slaughter of cattle. In the UK, the number of newly reported cases of nBWC between 2000 and 2002 ranged from 17 to 28 per year. The morbidity rate decreases or not remains unclear. In spite of the fact that the distribution of NRBC was limited to Great Britain and Europe, to date spongiform encephalopathy is found in cattle of North America.

ICD-10 code

A81.0. Disease of Creutzfeldt-Jakob.

Epidemiology of Creutzfeldt-Jakob disease

To the sporadic form of Creutzfeldt-Jakob disease, individual cases of Creutzfeldt-Jakob disease are classified as separate, epidemiologically unrelated either to the established common source or to a single pathway or factor of transmission of the causative agent. The sporadic form of Creutzfeldt-Jakob disease is widespread all over the world. The annual incidence is 0.3-1 per 1 million inhabitants. The Creutzfeldt-Jakob disease is usually recorded in the older age group, its peak falls on 60-65 years. Patients with this form of the disease can be a source of iatrogenic Creutzfeldt-Jakob disease.

[1], [2], [3], [4],

What causes Creutzfeldt-Jakob disease?

The family form of the disease, caused by mutations in the PRNP gene, is observed in 10-15% of families where Creutzfeldt-Jakob disease was previously diagnosed. Patients with this form are also probable sources of the iatrogenic form of the disease. Iatrogenic Creutzfeldt-Jakob disease can be considered as a nosocomial infection. It is now proved that this variant of Creutzfeldt-Jakob disease is due to the implementation of an artificial (artificially) mechanism of transmission of the pathogen. This form refers to cases of Creutzfeldt-Jakob disease, if in the epidemiological history of the patient established any medical intervention associated with the source - a possible carrier of infectious prion proteins. Severe risk is given to recipients of the dura mater, spinal cord, cornea, donor blood. Dangerous in the epidemiological plan is the introduction of a human pituitary extract (growth hormone and gonadotropin) to the patient, as well as the introduction of drugs prepared from the brain and other animal organs. In total, 174 cases of iatrogenic Creutzfeldt-Jakob disease, registered in the world by 1998 are known. In the new version of the disease, the source of the pathogen is animals. This variant of the disease appeared after the epizootic of spongiform encephalopathy of cows in England. The genetic proximity of prions of cows killed by spongiform encephalopathy and prions obtained from patients with a new variant of Creutzfeldt-Jakob disease is proved.

Symptoms of Creutzfeldt-Jakob disease

The prothromal symptoms of Creutzfeldt-Jakob disease are noted in 1/3 of patients in a few weeks or months before the appearance of a cardinal symptom of Creutzfeldt-Jakob disease - progressive dementia. In the prodromal period, patients complain of weakness, sleep and appetite disorders, loss of libido. The first symptoms of Creutzfeldt-Jakob disease are expressed in the form of visual disturbances, sometimes the disease debuts with cerebellar ataxia. Characteristic violations of behavior and mental disorders: apathy, paranoia, depersonalization, emotional lability.

Along with the typical form of Creutzfeldt-Jakob disease, its atypical variants with duration of the disease more than 2 years are revealed. Also atypical are the forms of the disease, manifested by cerebellar disorders in a greater degree, than the mental (atactic form). The variants of Creutzfeldt-Jakob disease are described, where the symptoms of cortical blindness predominate due to the defeat of the occipital lobes. To the panencephalitic type of Creutzfeldt-Jakob disease include cases with degeneration of white matter of the brain and spongy vacuolization of gray matter. In the case of severe muscular ataxia, an amyotrophic variant of Creutzfeldt-Jakob disease is diagnosed in the early stages of the disease.

The new variant of Creutzfeldt-Jakob disease differs clinically from the classical one in that the disease debuts with mental disorders in the form of anxiety, depression, changes in behavior, sometimes registering dysesthesia of the face and limbs. After a few weeks or months, neurologic disorders, mostly cerebellar disorders, join in. In the late period of the disease, typical symptoms of Creutzfeldt-Jakob disease are noted: memory disorders, dementia, myoclonia or chorea, pyramidal symptoms. The EEG usually lacks the characteristics characteristic of the Creutzfeldt-Jakob disease. Patients die within the first half of the year, rarely live to a year, even less often until 2 years. Such galloping cases are described when the disease proceeds according to the type of acute encephalitis, and the patient dies within several weeks.

Dementia with Creutzfeldt-Jakob disease

[5], [6], [7], [8]

ICD-10 code

F02.1. Dementia in the case of Creutzfeldt-Jakob disease (A81.01).

Dementia Creutzfeldt-Jacob is understood as progressing acquired dementia with extensive neurological symptoms.

Specific changes in the nervous system (subacute spongiform encephalopathy) are presumably caused genetically.

The disease usually begins in the elderly or old age, although it can develop in adulthood.

The clinical picture of the disease is characterized by the following triad:

1. rapidly progressive, devastating dementia:
2. pronounced pyramidal and extrapyramidal disorders with myoclonus;
3. characteristic three-phase EEG.

The disease manifests itself in the progressive spastic paralysis of the limbs, tremor, rigidity, characteristic movements: in some cases, ataxia, vision loss, muscle fibrillation, atrophy of the upper motor neuron.

For diagnostics, including differential diagnostics, the following specific features matter:

• rapid (within months or 1-2 years) current;
• extensive neurological symptoms, which may precede dementia;
• early appearance of motor disorders.

Treatment of mental disorders complicating the clinic of the disease is carried out according to the standards of treatment of the appropriate syndromes, taking into account the age and somato neurological condition of the patient. It is also necessary to work with family members of the patient, psychological support of people caring for the patient.

The outlook is unfavorable.

Diagnosis of Creutzfeldt-Jakob disease

About Creutzfeldt-Jakob disease should be thought of with rapidly progressive dementia in the elderly, especially with myoclonic seizures and ataxia. They have to differentiate Creutzfeldt-Jakob disease with cerebral vasculitis, hyperthyroidism and intoxication with bismuth. In young people, Creutzfeldt-Jakob disease is possible with the consumption of beef imported from the UK, but it is necessary to exclude Wilson-Konovalov's disease.

Diagnosis of Creutzfeldt-Jakob disease consists in the allocation of the classic symptom of Creutzfeldt-Jakob disease-progressive dementia (intellectual and behavioral disorders that grow rapidly) in combination with myoclonia. The EEG reveals typical periodic complexes, the pathology is not detected in the spinal cord fluid. The modern diagnosis of Creutzfeldt-Jakob disease is based on the fact that cases of progressive dementia in combination with the following syndromes (2 or more): myoclonus, cortical blindness, pyramidal, extrapyramidal or cerebellar insufficiency, typical EEG changes (two-three-phase acute waves with a 1- 2 per second) are almost always in the case of pathomorphological examination are cases of Creutzfeldt-Jakob disease. Diagnosis can present certain difficulties. MRI reveals brain atrophy, diffusion-weighted MRI, pathological changes in the basal ganglia and cortex. CSF usually is not changed, but the characteristic protein is often determined 1433. A brain biopsy is usually not required.

[9], [10], [11], [12]

Treatment of Creutzfeldt-Jakob disease

Treatment of Creutzfeldt-Jakob disease is absent. The average life expectancy since the appearance of signs of the disease is 8 months, 90% of patients die within the first year of the disease.

Employees in contact with the biological fluids and tissues of patients with suspected Creutzfeldt-Jakob disease should work in gloves and avoid contact of the contaminated material with the mucous membranes. If contaminated material gets on the skin, first disinfect it with 4% sodium hydroxide solution for 5-10 minutes, then rinse under running water. For decontamination of materials and tools, autoclaving at 132 ° C for 1 hour or sterilization in 4% sodium hydroxide solution or 10% sodium hypochlorite solution is recommended for 1 hour. Standard sterilization methods (for example, formalin treatment) are ineffective.