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Fatal familial insomnia (FFI) is an extremely rare degenerative brain disease which appears to be genetic in nature. This disease appears to be present in fewer than 30 families around the world, although additional study and genetic analysis may uncover more families who are predisposed to it. Currently there is no cure for fatal familial insomnia, although doctors are working on experimental treatments; most doctors believe that the best hope for treatment lies in gene therapy.
This disease is a type of prion disease, meaning that it is caused by rogue proteins called prions. Prions lack genetic material, reproducing through strange folding behavior which causes the proteins around them to mutate. In the case of fatal familial insomnia, patients who inherit the dominant gene which causes the condition will start to display symptoms between the ages of 30 and 60, as prions attack the thalamus, the portion of the brain which is responsible for sleep.
The first sign of fatal familial insomnia is the inability to sleep, which is often coupled with panic attacks and hallucinations. As the patient continues to go for weeks and months without sleep, he or she tends to lose weight and sink into dementia as more and more of the brain becomes damaged. Ultimately, the patient turns 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 members of his wife's family. In Roiter's sleep research, he had never encountered anything quite like this condition, and he suspected that 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 for human health, although doctors are not quite sure why. Anyone who has ever experienced even a brief period of insomnia knows that it can make it hard to think, in addition to being overwhelming and sometimes causing strange neurological symptoms. In fatal familial insomnia, victims don't just experience a period of insomnia: they wake up one day and never go to sleep again.
When was this article produced? My friend has been diagnosed with Fatal Familial Insomnia but has not yet discussed treatment with her doctors. Is Gene therapy an option now?
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