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December 2023
Humaira Batool Kayani
What is FFI?
Fatal Familial Insomnia (FFI) is a rare ancestral disorder that affects both the brain and central nervous system. It causes you to have muscle twitches, loss of memory (dementia), and difficulty sleeping (insomnia). FFI happens to be degenerative meaning over time, the symptoms worsen and become life-threatening. The worst part? There is no cure, but there are ongoing studies to develop therapy solutions that can:
assist in slowing the progression of symptoms
lengthen the lives of people with this disorder
Who is affected?
People who inherit the gene from either one of their biological parents are affected by Fatal Familial Insomnia (FFI). A history of the condition affecting the family is usually present since only one copy of the mutant gene is required to produce symptoms (autosomal dominant).
There of course are extremely rare cases where FFI can occur in those who don’t have this condition present in their ancestral history. These conditions in these cases are caused by a newly appeared genetic mutation (de novo).
How common is this disorder?
One to two individuals out of every million are believed to be affected with Fatal Familial Insomnia (FFI), a highly rare condition. Given that FFI is inherited, the mutation responsible for the illness is carried by 50–70 families globally.
How does this condition affect your body?
Fatal Familial Insomnia (FFI) is a genetic abnormality that causes proteins to congregate in the thalamus, the part of the brain that regulates sleep and other physical activity along with bodily functions. The most serious symptom is the inability to sleep (insomnia), which has an impact on your mental capacity and how your body functions.
Sleep is essential for maintaining your health. Sleeping benefits both your mental and physical well-being. When you sleep, your brain coordinates with your body to ensure you are up and energized in the morning. Not getting enough sleep causes your brain to lose its ability to recharge, which impairs your ability to think and function normally. When your brain isn't working properly, it affects how your body feels and functions. People with progressed FFI are unable to sleep, causing mental deterioration and other life-threatening effects.
Symptoms of FFI
Sleeping becomes more difficult over time (progressing insomnia).
Overactivity of the nervous system is characterized by elevated blood pressure, a faster-than-normal heart rate, and anxiety.
Progressive dementia is characterized by worsening difficulties with thought, cognition, memory, language, and behavior.
Hallucinations.
The uncontrollable jerking or twitching of muscles (myoclonus).
Symptoms of Fatal Familial Insomnia start between the ages of 20 and 70, with the average onset being the age of 45-50 years old. Early symptoms of FFI often resemble those of Alzheimer's disease and dementia. A person diagnosed with FFI has a low life expectancy, especially when symptoms appear, where life expectancy ranges from a few months to a couple of years.
What is the cause?
Fatal Familial Insomnia is caused by a mutation or alteration in the PRNP gene (FFI). The prion protein PrPC is produced by the PRNP gene. PrPC, or prion protein, is found in the brain, notably in the region known as the thalamus, where it helps control body functions such as sleep.
When the PRNP gene is mutated, the amino acids that form the PrPC proteins lack the instructions needed to construct the proteins precisely. This mutation is comparable to folding laundry. If you are unsure of how to properly fold a t-shirt, you might ball it up and store it in a drawer. As a result, you accumulate multiple t-shirts that aren't folded correctly, making it difficult to close the drawer. The scrunched-up t-shirts represent PrPC proteins that gather on your brain and become poisonous to the cells within your nervous system, which generates symptoms.
There have also been cases where individuals have developed Fatal Insomnia but absent a variation in the PRNP gene. Despite the fact that this is a non-genetic variety of FFI, the fundamental cause of the condition's emergence is unknown. These individuals are said to have sporadic fatal insomnia (SFI). As a result, SFI occurs less frequently and randomly, making it a much more unusual occurrence in comparison to FFI.
Similar disorders
FFI is also known as a prion disease. Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker syndrome are additional prion illnesses that may be caused by PRNP gene abnormalities, while other prion disorders arise in the absence of a genetic variant. In general, prion disorders possess lengthy incubation periods as well as brief clinical durations, which indicates that unusual prions can build for many years without causing symptoms (long incubation period), but once symptoms appear, the disorder develops hurriedly. Animals are also affected by prion illnesses, such as bovine spongiform encephalopathy (mad cow disease) in cows and scrapie in sheep.
How does FFI get diagnosed?
Fatal Familial Insomnia (FFI) will be diagnosed by a medical professional after a thorough review of your symptoms and running a handful of specialized tests:
Polysomnography: sleep test used to discover irregularities in sleep patterns.
Electroencephalogram (EEG): A test to determine the electrical activity in your brain.
Cerebrospinal Fluid (CSF) analysis: Cerebrospinal fluid (fluid in your brain and spinal cord) is examined in this test to identify diseases affecting the brain and spinal cord.
Genetic testing to uncover the gene causing these symptoms
Imaging tests: MRI, CT scan, or PET scan.
Labs such as a complete blood count (CBC), liver function test, and blood cultures.
Are treatments available?
As mentioned previously, there is no cure for Fatal Familial Insomnia (FFI), but there are treatment options that can help to reduce symptoms:
Using medication to induce deep slumber (gamma-hydroxybutyrate, phenothiazines).
Administering clonazepam to relieve muscle spasms.
Intake of vitamins (B6, B12, iron, folic acid).
Psychosocial therapy
Hospice care
There are ongoing studies to develop new therapy options for persons with FFI. One study discovered that the antibiotic doxycycline was effective in extending the lives of people with FFI.
References
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