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Sleep is essential for our physical and mental well-being. And, yet, the Sleep Foundation estimates that 50 to 70 million people in the US alone experience sleep disturbances, with insomnia, sleep apnea, and narcolepsy being the most common. But while these conditions can significantly impact daily life, they pale in comparison to the devastating effects of fatal familial insomnia (FFI).
This extremely rare genetic disorder progressively robs individuals of the ability to sleep, leading to a fast decline in physical and mental health. Intrigued? Click through to learn more about this debilitating disorder and the ongoing efforts to find a cure.
Fatal familial insomnia (FFI) is a rare genetic disorder that causes progressive insomnia, leading to severe sleep disturbances and eventual death.
FFI goes beyond just experiencing difficulty sleeping. It fundamentally disrupts the body's essential restorative processes, leading to a devastating and fatal decline.
Sleep is vital for our overall health. It allows the brain and body to repair and recharge, leaving us feeling refreshed and alert. Insufficient sleep disrupts this critical process, impairing cognitive ability and impacting our body’s main functions.
FFI is a rare genetic disorder that runs in families. If you inherit the faulty gene from one of your parents, you're at risk of developing the condition. Even a single copy of the mutated gene is enough to cause FFI, highlighting its dominant nature.
The neurodegenerative disease is caused by a genetic mutation in the PRNP gene, which plays a crucial role in producing prion proteins that are essential for normal brain function.
The gene mutation alters the production of prion proteins, causing them to misfold. These new abnormally shaped proteins are toxic to brain cells, leading to a progressive decline in brain function.
The prion protein comes from a normal protein (left), which is normally found in our bodies. When they abnormally misfold (right), they clump together in the brain, damaging brain cells and leading to serious neurological problems.
To illustrate the mutation, specialists use a simple analogy: think of when instead of neatly folding a T-shirt, you just crumple it up and throw it in a drawer. Over time, the drawer gets filled with these misshapen T-shirts, making it harder to close. Similarly, in FFI, the misfolded proteins accumulate in the brain, impairing its functions.
One of the areas most affected by FFI is the thalamus (pictured in blue), a critical part of the brain that controls many essential functions, including sleep, body temperature, and appetite.
Deep within the brain, the thalamus plays a crucial role in regulating sleep and wakefulness. It's like a "dimmer switch," controlling the brain's activity levels. In FFI, this switch malfunctions, leaving the brain constantly active, preventing individuals from entering the deep, restorative phases of sleep.
They typically appear around the age of 40, but can sometimes emerge earlier, in someone's twenties, or later, closer to age 70. Click on to take a look at FFI's main symptoms.
A core symptom of FFI is progressive insomnia, meaning the inability to sleep worsens steadily over time. Eventually, patients suffering with FFI may become completely unable to sleep.
During sleep, our brains solidify the connections between neurons, allowing us to learn and remember effectively. When we're sleep-deprived, these connections weaken, making it harder to focus, learn new things, and recall information.
Without the ability to enter deep, restorative sleep, individuals with FFI may experience a state of near unconsciousness. They might appear to be awake, but are not fully aware of their surroundings. This can lead to hallucinations and even mindless mimicking of daily routines, similar to sleepwalking.
People with FFI may experience myoclonus, which are sudden, involuntary muscle jerks or twitches. These movements occur due to disruptions in the nervous system, which can also affect a patient's coordination.
Specialists will diagnose FFI based on symptoms and the results of various tests. Click on to learn more about these tests.
A sleep study, also known as a polysomnogram, records brainwaves, heart rate, breathing, and other vital signs while patients sleep. This test helps doctors diagnose sleep disorders, including FFI. Studies show that added video monitoring during the sleep study is crucial for accurately diagnosing FFI.
An EEG records the brain's electrical activity through small sensors placed on a person's scalp. While not always necessary for diagnosis, an EEG may show abnormal brainwave patterns, such as slow waves or sharp spikes, which can be a sign of a prion disease like FFI.
A lumbar puncture, also known as a spinal tap, involves collecting a sample of cerebrospinal fluid (CSF) from a patient's lower back. This test can help diagnose conditions that affect the brain and spinal cord. In some cases of FFI, elevated levels of white blood cells may be detected through CSF analysis.
While brain MRI scans may show some general signs of brain atrophy, such as thinning of the brain tissue and enlarged fluid-filled spaces within the brain, more specialized techniques like PET and SPECT scans can reveal specific abnormalities in FFI. These scans often show reduced brain activity in key areas affected by the disease, including the thalamus.
A complete blood count (CBC) and a metabolic panel are routine blood tests that can help doctors assess overall health. While these tests themselves don't directly diagnose FFI, they can provide valuable information about a patient's general health status.
Genetic testing is crucial for confirming a diagnosis of FFI. This test identifies the specific gene mutation responsible for the disease. For families considering having children, if there's a concern about the risk of passing on genetic conditions, it's essential to discuss genetic testing options with a healthcare provider.
Since FFI is not yet curable, treatment focuses on managing symptoms and improving the patient’s quality of life. This may involve medications to promote deeper sleep and to reduce muscle spasms. Additionally, treatment may include assistance with daily living activities and therapy for emotional support.
Patients enrolled in the clinical trial will receive doxycycline. Their health outcomes will be compared to individuals who have died from FFI. Importantly, doxycycline has shown promise in another prion disease, Creutzfeldt-Jakob disease, where it has been shown to extend life expectancy significantly.
Sources: (Live Science) (ScienceDirect) (Cleveland Clinic) (NCBI) (BBC)
See also: Why do people die in their sleep?
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Rare disorder permanently prevents people from sleeping
HEALTH Sleep disorders
Sleep is essential for our physical and mental well-being. And, yet, the Sleep Foundation estimates that 50 to 70 million people in the US alone experience sleep disturbances, with insomnia, sleep apnea, and narcolepsy being the most common. But while these conditions can significantly impact daily life, they pale in comparison to the devastating effects of fatal familial insomnia (FFI).
This extremely rare genetic disorder progressively robs individuals of the ability to sleep, leading to a fast decline in physical and mental health. Intrigued? Click through to learn more about this debilitating disorder and the ongoing efforts to find a cure.