Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited prion disease of the brain. The gene mutation responsible has been found in just 50 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 (FFI) was first dete...
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Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited prion disease of the brain. The gene mutation responsible has been found in just 50 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 (FFI) was first detected by Italian doctor Ignazio Roiter in 1974, who discovered two women from one family who apparently died of insomnia. 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 mutation in a protein called a prion protein (the PRNP gene): asparagine-178 replaces aspartic acid. This mutation will cause...
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