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Fatal familial insomnia (FFI), a rare neurodegenerative genetic disease, was discovered by Pierluigi Gambette. The condition is a serious sleep disorder and it can rapidly progress to death within a year or two. FFI belongs to a family of diseases call prion diseases, caused by infectious proteins. It is the third most common genetic prion disease in the world, but it’s rare and only 28 families have been impacted around the world.
What makes fatal familial insomnia unique in the world of biology is that dispelled the idea that people need to have a virus, parasite or bacterium in order to have an infectious disease. Nobel Prize winning neurobiologist and biochemist Stanley Prusiner championed the idea proteins were the actual infectious agent in some types of diseases.
Other diseases caused by prion protein destruction include Creuzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker syndrome. These diseases are progressive, destructive and deadly.
What Is Insomnia?
Insomnia is thought to be one of the most common of all sleep disorders. The condition is highlighted by the inability to fall asleep and to obtain enough sleep to feel rested. Insomnia may be characterized by the inability to fall asleep, as well as not being able to stay asleep. In order for it to be present, the above difficulties must be present despite a person having an adequate chance for sleep. The lack of sleep must also lead to problems with functioning during the daytime.
What Causes FFI?
Fatal familial insomnia is an extremely rare inherited autosomal dominant prion disease of the brain. The condition is almost always caused by a protein mutation, but there have been cases of spontaneous development. The disease has no known cure and it involves insomnia that grows progressively worse and the average survival after the onset of symptoms is 18-months.
Fatal Familial Insomnia Symptoms
The age of onset for FFI is variable and can range from 18 to 60 years of age with a median age of 50. The disease tends to happen in later years, primarily following giving birth to a baby. It is diagnosed and detected through genetic testing and death can happen anywhere from seven and 36 months following the onset of symptoms.
FFI most typically starts when someone has problems falling asleep, a common symptom that happens with various types of insomnia. Within a period of several months, the condition becomes so severe a person is not able to fall to sleep at all. In addition to incurable insomnia, which develops over several months, there are other symptoms that make this condition different than typical insomnia.