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Fatal familial insomnia is a rare genetic disease caused by prions attacking the thalamus, leading to the inability to sleep, weight loss, dementia, and eventually death. There is no cure, but gene therapy is a potential treatment. The disease was first identified by an Italian doctor and appears in fewer than 30 families worldwide.
Fatal familial insomnia (FFI) is an extremely rare degenerative brain disease that appears to be genetic in nature. This disease appears to be present in fewer than 30 families worldwide, although further studies and genetic analyzes may uncover more families that are predisposed to it. There is currently no cure for fatal familial insomnia, although doctors are working on experimental treatments; most doctors believe the best hope for treatment lies with gene therapy.
This disease is a type of prion disease, which means it is caused by rogue proteins called prions. Prions lack genetic material, reproducing through a strange folding behavior that causes the proteins around them to mutate. In fatal familial insomnia, patients who inherit the dominant gene that causes the condition will start experiencing symptoms between the ages of 30 and 60, as prions attack the thalamus, the part of the brain responsible for sleep.
The first sign of fatal familial insomnia is the inability to sleep, which is often accompanied by panic attacks and hallucinations. As the patient continues to go without sleep for weeks and months, he tends to lose weight and sink into dementia as more and more of the brain is damaged. Eventually, the patient becomes catatonic and totally unresponsive before dying.
The first cases of fatal familial insomnia were identified by an Italian doctor, Ignazio Roiter. Unfortunately for Roiter, these cases were very close to home, appearing among his wife’s family members. In Roiter’s sleep research, he had never encountered anything like this condition and suspected it might be an entirely new disease. When the brain of one of the patients was autopsied, it revealed the characteristic plaques and holes of prion disease, confirming his suspicions.
Sleep is very important to human health, although doctors aren’t quite sure why. Anyone who has ever experienced even a short bout of insomnia knows that it can make thinking difficult, as well as being overwhelming and sometimes causing strange neurological symptoms. In fatal familial insomnia, victims not only experience a period of insomnia: they wake up one day and never fall asleep again.
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