Wednesday, April 04, 2018 by Ralph Flores
Fatal familial insomnia (FFI) is a neurodegenerative disease characterized by progressive insomnia that develops to a total inability to sleep. FFI is a prion disease, that is, a condition arising from abnormalities in the prion proteins found in the brain. Like all prion diseases, FFI is rapidly progressive, which indicates the loss of neurons over time. In particular, the condition primarily affects the thalamus, which regulates the brain’s sleep-wake cycle and relays signals between different regions of the brain.
It was first documented in the early 1980’s – after an Italian patient suffering from the condition referred himself to the University of Bologna’s sleep unit. According to an article by the BBC, the family referred to the condition as una notte in biancco – a night in white – a sleepless night which indicated that the condition had already taken hold of them.
FFI is a genetic prion disease caused by mutations in the PRNP gene, also referred to as the prion protein. It should also be noted that mutations in the PRNP gene are linked to other forms of prion diseases including Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker syndrome (GSS).
Based on the name alone, the greatest risk factor for FFI is inheritance. A person with either parent carrying the mutated PRNP gene is immediately at risk of getting the condition.
While the condition is fatal, it is very rare: To date, FFI has been found in 40 families around the world, with cases being as little as 100 individuals.
A person who has FFI, at first, will exhibit minor difficulties in falling and staying asleep, with some muscle twitching, spasms, and stiffness. While sleeping, a person tends to move a lot and even kick. Other symptoms may also include panic attacks, phobias, weight loss, and abnormal body temperatures.
Autonomic disorders may also appear with FFI, which could be anywhere from high blood pressure, hyperventilation, profuse sweating and salivation, and erectile dysfunction.
As FFI progresses, the person will lose the ability to sleep altogether. This will result in abnormal and uncoordinated movements (ataxia), hallucinations, severe confusion, and involuntary muscle twitching (myoclonus). In later stages of FFI, dementia will set in, with the body eventually losing the ability to walk and talk.
FFI primarily affects the thalamus, the part of the brain that regulates sleep. When doctors examined the brain of a person who died from the condition, they found that most of the damage is located in the thalamus.
While later stages of FFI may prove to be unmanageable by diets, in its earlier stages, some herbs and supplements may help manage minor onsets of insomnia.
Currently, there is no effective treatment for FFI. Most options are palliative in nature and seek to minimize a person’s suffering.
Fatal familial insomnia is a rare prion disease characterized by a total inability to sleep. The condition is rapidly progressive, and it is often fatal.
FFI is a genetic prion disease caused by mutations in the PRNP gene, also referred to as the prion protein. The condition primarily affects the thalamus, the part of the brain that regulates sleep.
Tagged Under: Tags: Fatal Familial Insomnia