Creutzfeldt-Jakob disease

It is a disease also called "mad cow disease" that is characterized by diffuse involvement of the brain gray matter, causing a progressive loss of neurons.

How is it produced?

The peculiarity of this rare disease is that it is transmitted by agents that are different from conventional viruses (causing other neurological diseases caused by known viruses) and that have the ability to be transmitted between different organs, called prions. It is the prions that accumulate in the brain causing the disease and it is these that are transmitted.

Three variants of the disease have been described, one sporadic (with no known cause), one hereditary (with a family history of genetic mutations associated with the prion-producing gene that appears at younger ages) and another acquired (through direct or indirect contact with infected brain or central nervous system tissue (represents a very low proportion of cases of the disease). It is a disease that is not transmitted by casual contact or through the air, and although it seems that person-to-person contagion exists, the possibility is extremely low and not by contact.

Symptoms

It appears after 50 and 60 years and has a very rapid course that in most cases causes death in less than a year after diagnosis.

It is manifested by a picture of rapidly progressive dementia associated with myoclonus (spasms, in this case predominantly in the upper extremities), alterations in coordination and visual alterations that can lead to blindness.

In the very initial forms, a change in personality stands out, together with alterations in memory and thinking.

Diagnosis

The definitive diagnosis is established by a brain biopsy or autopsy that shows a spongiform brain tissue (hence this disease is part of spongiform encephalopathies). However, if we do not want to rule out with certainty a cause of treatable brain disease, as brain biopsy is a risky procedure, and as the prognosis and treatment do not vary in case of confirming the existence of Creutzfeldt disease- Jakob, this is not done on a regular basis. Yes, an anatomical-pathological study of the brain is carried out in the autopsies of these patients.

Currently there is no certain diagnostic test for the disease, so it is important to suspect the disease with a complete history and a thorough neurological examination, and to rule out other diseases associated with dementia that are potentially treatable.

Neuroimaging (CT / MRI) or cerebrospinal fluid tests are usually normal or with nonspecific changes. The electroencephalogram can, however, reveal some alterations that may suggest the diagnosis.

Treatment

There is no treatment for this disease. It evolves very quickly until the death of the patient.