FATAL FAMILIAL INSOMNIA
Kanak Manjari Institute of pharmaceutical Sciences
Fatal familial insomnia (FFI) is an inherited disease caused by a mutation in the protein prion gene.
REFERENCE ID: PHARMATUTOR-ART-2050
Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited prion disease of the brain. It is almost always caused by a mutation to the protein PrPC, but can also develop spontaneously in patients with a non-inherited mutation variant called sporadic fatal insomnia (sFI). FFI has no known cure and involves progressively worsening insomnia, which leads to hallucinations, delirium, and confusional states like that of dementia. The average survival span for patients diagnosed with FFI after the onset of symptoms is 18 months.
The mutated protein, called PrPSc, has been found in just 40 families worldwide, affecting about 100 people; if only one parent has the gene, the offspring have a 50% risk of inheriting it and developing the disease. The first recorded victim was an Italian man, deceased in Venice in the year 1765.
The symptoms of Fatal Familial Insomnia are as follows
Involuntary muscle contraction
We now know that Fatal Familial Insomnia is a prion disease. The term prionwas coined by Stanley Prusiner in the 1980s as the name for an infectious agent. Specifically, a prion is a mis-folded protein that permanently affects the structure of the brain. Prions are responsible for the outbreak of Bovine Spongiform Encephalopathy (BSE) in cattle and Creutzfeldt - Jakob disease (CJD) in humans. In FFI, prions eat away the thalamus region of the brain, responsible for regulating sleep and various sensory and motor systems. This increasingly prevents the sufferer from losing consciousness - although their EEG readings show signs associated with REM sleep during waking hours: they are so sleep deprived, they are dreaming while awake. Because Fatal Familial Insomnia is genetic, there is a 50% chance of a parent passing it on to their offspring. The tragic thing is, the symptoms don't show until after the child-bearing years are over (typically over 40 years), so parents usually pass on the defective gene without realizing.
In late 1983, Italian neurologist/sleep expert Dr. Ignazio Roiter received a patient at the University of Bologna hospital's sleep institute. The man, known only as Silvano, decided in a rare moment of consciousness to be recorded for future studies and to have his brain harvested for research in hopes of finding a cure for future victims. As of 2013, no cure or treatment has yet been found for FFI. Gene therapy has been thus far unsuccessful. While it is not currently possible to reverse the underlying illness, there is some evidence that treatments that focus solely upon the symptoms may improve quality of life.
It has been proved that sleeping pills and barbiturates are unhelpful; on the contrary, in 74% of cases they have been shown to worsen the clinical manifestations and hasten the course of the disease. One of the most notable cases is that of Michael (Michel A.) Corke, a music teacher from New Lenox, Illinois (born in Watseka, IL). He began to have trouble sleeping before his 40th birthday in 1991; following these first signs of insomnia, his health and state of mind quickly deteriorated as his condition worsened. Eventually, sleep became completely unattainable, and he was soon admitted to University of Chicago Hospital with a misdiagnosis of clinical depression due to MS. Medical professionals, (Dr Raymond Roos and Dr Anthony Reder) at first unsure of the nature of his illness, initially diagnosed multiple sclerosis; in a bid to provide temporary relief in the later stages of the disease, physicians induced a coma with the use of sedatives, to no avail as his brain still failed to shut down completely. Corke died in 1993, a month after his 42nd birthday, by which time he had been completely sleep-deprived for six months. One patient was able to exceed the average survival time by nearly one year with various strategies, including vitamin therapy and meditation, using different stimulants and narcoleptics and even complete sensory deprivation in an attempt to induce sleep at night and increase alertness during the day. He managed to write a book and drive hundreds of miles in this time but nonetheless, over the course of his trials, the patient succumbed to the classic four-stage progression of the illness. In the late 2000s, a mouse model was made for FFI. These mice expressed a humanized version of the PrP protein that also contains the D178N FFI mutation. These mice appear to have progressively fewer and shorter periods of uninterrupted sleep, damage in the thalamus, and early deaths, similar to humans with FFI.
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