Prion diseases are a category of rare fatal brain diseases that can strike both humans and animals. The disease hits the nervous system and impairs essential brain functions, which can cause memory loss, decrease in intelligence, personality and behavioral changes, and insomnia. It is caused by an altered and mutated PRNP gene, inherited from a parent, that manifests itself in misshapen protein cells that can pop up in brain tissue.
In humans, there are five known prion diseases: Creutzfeldt-Jakob Disease, Variant Creutzfeldt-Jakob Disease, Gerstmann-Straussler-Scheinker Syndrome, Kuru, and Fatal Familial Insomnia. There are six known animal prion diseases, including bovine spongiform encephalopathy, or more commonly known as "Mad Cow Disease."
Like all prion diseases, Fatal Familial Insomnia (FFI) is caused by a change or mutation of the PRNP gene, which allows it to clump together in the thalamus region of the brain, eventually destroying the cells there. The thalamus region controls sensory and motor skills, as well as regulation of consciousness and sleep. The mutated PRNP gene "eats" holes in the brain, giving it a "sponge-like" appearance. This can lead to the inability to sleep (progressively getting worse overtime) and when sleep is achieved, very vivid dreams. It has been observed from EEG readings taken while the victim is awake show signs associated with REM sleep. Essentially, they are so sleep deprived, they enter a dream-like state when awake.
Oddly, the first signs and symptoms of FFI don't tend to develop until our 40s and 50s. While no one knows for sure why the gene sits dormant and does not mutate until then, doctors have theorized that perhaps it is spurred on or activated by the vulnerability of the brain during middle age.
While no one knew it at the time, the first recorded case of Fatal Familial Insomnia (though, possibly not the actual first case of it) was that of a Venetian doctor in 1765. Originally thought to have died from "an organic defect of the heart's sack," he suffered from "paralysis" and long bouts of not sleeping, symptoms that are consistent with FFI. Not only that, as documented in the book The Family That Couldn't Sleep, he may not have been the first member of his family to die this way. The book goes on to detail the 200 year history of this Italian family and their battles with this rare genetic disorder.
There have been other profiled cases of FFI. In 1991, a Chicago music teacher named Michael Corke, shortly after his 40th birthday, began to experience insomnia. As it got worse and worse, his physical and mental health began to deteriorate. He was sent to the University of Chicago hospital and was wrongly diagnosed with severe depression. The symptoms got worse and Corke became unable to sleep at all. Eventually, doctors induced a coma. In the end, Corke died six months after the symptoms began. Some years later, his case was featured in the BBC documentary "The Man Who Never Slept." It is also unclear if there were others in Corke's family who suffered from this disease.
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