In 1920, at a congress of German neurologists, the pathologist Alfons Maria Jakob presented the case of a patient, a 52-year-old woman and housewife, who began with lack of coordination of voluntary movements (ataxia), intense tendon reflexes and rigid posture. She later developed jerky movements and ended up unable to walk. Not long after, before dying of pneumonia, she presented symptoms of confusion, disorientation, and severe dementia. Two other patients of his, aged thirty-four and forty-two, developed similar symptoms and the autopsies of all three coincided in showing extensive neurodegeneration in the cerebral cortex and the deep ganglia of the brain (basal ganglia). The German Hans-Gerhard Creutzfeldt had previously described a similar case, both in symptoms and in the histopathology of the autopsies, but to Jakob it did not seem as clear as his own cases, which he considered exponents of a new and rare form of dementia. presenile whose name today we know as Creutzfeldt-Jakob disease. Now, according to EL PAÍS, an investigation has just been opened to clarify the causes of the death of a biochemist who studied Creutzfeldt-Jakob disease in a laboratory at the University of Barcelona and who died in 2022, at the age of 45. , after manifesting symptoms compatible with the illness being investigated. Thousands of unauthorized samples have been found in his laboratory, some of them potentially infectious. The investigation could end up confirming the scientist’s contagion and the lethal nature of the disease, for which a cure is not yet known.
Its origin was known far from Germany, in places as unexpected as Iceland and New Guinea. First it was at the Institute of Experimental Pathology in Reykjavík, where doctor Björn Sigurdsson investigated the causes of an epidemic suffered by sheep in the north of the country, which began with stumbling and trembling of the head and ended up producing paralysis of the legs and everything. the body. The name of that epidemic, “rida,” derives from the Icelandic for ataxia or tremors. Sigurdsson believed that its origin was sheep that had been brought there from Germany in 1933, and since his analyzes did not detect parasites or bacteria that would explain the illness, he ended up attributing it to the contagion of a possible slow-acting virus, with more than a year of incubation. Suspicion gained ground when it was shown that the infectious agent and rida could be transmitted by inoculating healthy goats with brain extracts from sick goats.
The rida is considered today a form of scrapie or scrapie, a disease that affects goats and sheep causing them to lose their balance and rub and scratch on trees, rocks and fences, causing bald patches of wool on the body. Autopsy of diseased animals shows extensive neuronal degeneration, especially in the brainstem. The infectious agent, supposedly the slowly progressive virus proposed by Sigurdsson, is transmitted and spread by the feces left by sick animals on the grass that healthy ones eat. The disease is silent for years until the first symptoms appear.
Surprisingly, something similar to scrapie was also observed in the first half of the 20th century in the inhabitants of the Fore tribe of Okapa, a subprovince of New Guinea. Its members still practiced cannibalism and many died from a rare disease called kuru, a name that also means “to tremble.” As in the Icelandic sheep, the disease in the natives began with balance problems and slight tremors of the head and limbs, progressing over months to an inability to speak, walk or control movements, in addition to dementia and progressive emotional changes. Death did not take more than eighteen months and sometimes less than half a year.
The autopsy of the patients showed degeneration of the brain, particularly of the basal ganglia, and considerable atrophy of the cerebellum. The disease closely resembled, in both symptoms and neuropathology, that of Icelandic ruminants, a similarity that was confirmed when non-human primates were inoculated with brain extracts from human kuru victims and after an incubation period of six months At four years old they also showed the same symptoms as the natives of New Guinea, who contracted kuru by eating the human flesh of their dead in mourning rituals, but attributed the disease to witchcraft. As expected, the elimination of cannibalism ended the disease.
It was around then, when the American doctor of Hungarian origin Daniel Carleton Gajdusek, who visited the site of the epidemic, soon observed the similarity between the symptoms and pathology of kuru and those of Creutzfeldt-Jakob disease, also showing that It could be transmitted to non-human primates by inoculating their brains with extracts from human biopsies carrying the infectious agent. It was thought that these diseases, generically called “spongiform encephalopathies”, must be caused by an infectious agent of the slow virus type proposed by the Icelander Sigurdsson. However, despite the efforts of Gajdusek and other researchers, that possible virus was nowhere to be found.
It was then, in 1982, when Stanley B. Prusiner, an expert in virology and neuropathology at the University of California in San Francisco, managed to obtain purified brain extracts that transmitted Creutzfeldt-Jakob disease and that contained a protein substance that he called · prion” (infectious protein particle). The hypothesis that a protein could be the agent of an infectious disease caused much skepticism, but that did not discourage Prusiner who, two years later, in 1984, once again surprised the scientific community by showing that the gene that encodes such a protein was It is found in the genome of many mammals, including humans. It was incredible that the prion, the presumed agent of very serious neurodegenerative lesions, was normally synthesized in our own body.
For his discovery of prions, Stanley B. Prusiner received the Nobel Prize in Physiology and Medicine in 1997, and, for his research on kuru, Daniel Carleton Gajdusek was also awarded the Nobel Prize in Physiology and Medicine in 1976. Unfortunately, the latter’s scientific record was tarnished when some years later he was sentenced to nineteen months in prison for an accusation of pedophilia that he himself ended up admitting. He later went into exile in Europe, where he died.
Gray matter It is a space that tries to explain, in an accessible way, how the brain creates the mind and controls behavior. The senses, motivations and feelings, sleep, learning and memory, language and consciousness, as well as their main disorders, will be analyzed in the conviction that knowing how they work is equivalent to knowing ourselves better and increasing our well-being and relationships with other people.
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