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Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited prion disease of the brain. The dominant gene responsible has been found in just 28 families worldwide; if only one parent has the gene, the offspring have a 50% chance of inheriting it and developing the disease. The disease’s genesis and the patient’s progression into complete sleeplessness is untreatable, and ultimately fatal.
Fatal familial insomnia was first detected by Italian doctor Ignazio Roiter in 1974, who discovered two women from one family who apparently died of insomnia.[1] Family records showed a history of seemingly related deaths. Another member of the family fell ill in 1984; the patient’s deterioration was studied and after his death his brain was flown to the U.S. for further investigation.
In the late 1990s, researchers discovered that the disease is caused by a dual mutation in a protein called a prion protein (PrP): asparagine-178 replaces aspartic acid while methionine is present at amino acid 129.[2] These mutations result in the formation of an insoluble prion protein, termed PrPsc.
PrPsc has autocatalytic properties that cause normally soluble PrP to be converted into the PrPsc form upon interaction.
This conversion into insoluble protein causes plaques containing aggregates of PrPsc to develop in the thalamus, a region of the brain responsible for regulation of sleep. This first results in insomnia, and then progresses to more serious problems over time.
The age of onset is variable, ranging from 30 to 60, with an average of 50. However the disease tends to prominently occur in later years, primarily following childbirth. Death usually occurs between 7 to 36 months from onset. The presentation of the disease varies considerably from person to person, even among patients from within the same family.
The disease has four stages, taking 7 to 18 months to run its course:
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