Creutzfeldt-Jakob

The Creutzfeldt-Jakob disease (CJD) is a brain disorder characterized by memory loss, tremors, gait disorder, rigid posture, and seizures, and facial paralysis that gives the impression that the person is always smiling (twitching) due to rapid loss of brain cells caused by a protein called prion transmitted. The disease occurs in all human populations with a typical incidence of disease 1 case to 1,000,000 people per year. Usually appears in middle age with the peak incidence between 50 and seventy. The two cardinal manifestations are rapidly progressive dementia and myoclonus.

Classical CJD

Hans Gerhard Creutzfeldt and Alfons Maria Jakob were the two German neurologists who first described the disease in the early twentieth century. Interestingly, most of the clinical findings described in their first communications do not fit the diagnostic criteria currently defined for this disease. This suggests that patients diagnosed with classic CJD in the initial studies suffered from a disorder altogether.

Classic CJD is presented in various forms. In its acquired form, the defective protein is transmitted iatrogenically (i.e., as a result of medical action) to the patient, either by use of drugs (such as growth hormone, for example) or implant (corneal grafts or dura mater , for example). In this case, there is an invasion of the patient's body by a prion external to it.

There are two other forms of CJD. In them, the defective protein is not transmitted from an external source but is produced by the genes of the patient. At its inherited allele of the gene whose action results in defective prion is inherited mendelianamente. That is, there are families in which there is a higher probability of classical CJD because they have a higher incidence allele of the gene that causes the disease. These familial cases are rare and are concentrated in Eastern Europe.

In its sporadic form - also called spontaneously - the prion appears defective after a mutation that occurs in a normal allele (gene that produces the normal form of prion protein). The mutation in allele makes this allele that produces the prion defective. The classical CJD cases thus show an incidence of about 1: million people in the population.

A classic CJD epidemic occurred in the 1950s and 1960s between people of Papua people, native to New Guinea. It was found that the proximate cause was the practice decanibalismo ritual. Presenting symptoms of CJD, the disease mainly victimized women and children, people who ate the brain ceremonially their relatives killed in a ritual of mourning. This ritual cannibalism was appointed as the transmission mechanism of prion disease, known as Kuru. The discovery of this ritual form of transmission researcher Carleton Gajdusek won the Nobel Prize for Medicine in 1976.

The diagnosis is usually established by clinical findings and certain atypical features in eletroencefalografias. A biopsy of brain tissue is final. Although there is no cure for the disease.

A New Variant Creutzfeldt-Jakob disease (nCJD)

In 1996 researchers and the British government recognized the existence of a new type of CJD. It was called New Variant Creutzfeldt-Jakob disease. Differs from the classical form because it affects much younger patients, usually around twenty years and by the occurrence of the syndrome in early, sensory and psychiatric symptoms (mad cow disease).

The researchers found that this form of the disease is caused by the transmission of prions acquired through the consumption of bovine meat and offal from animals affected by bovine spongiform encephalopathy, commonly known type to mad cow disease.