The brain and nervous system are affected by fatal familial insomnia (FFI), a rare and inherited condition. There are symptoms like memory loss, muscle twitching, and dementia, as well as severe and progressive difficulty sleeping. There are no cures for FFI, but some treatments can help manage its symptoms.
FFI is caused by a mutation in the PRNP gene, which normally produces prion proteins that are essential for the function of brain nerve cells. As a result of the mutation, abnormal prion proteins form in the thalamus, which regulates sleep, emotions, and sensory perception. As a result of abnormal prions accumulating in the thalamus, FFI symptoms occur when nerve cells in the thalamus are damaged.
A person with FFI only has to inherit one copy of the mutated gene from either parent to develop the condition since it is an autosomal dominant gene. As a result of a new mutation in the PRNP gene, FFI can also occur sporadically without a family history. A parent with the mutation has a 50% chance of passing it on to their child.
People with FFI usually experience symptoms between the ages of 32 and 62, but they can vary from person to person. Insomnia is the most common symptom, which worsens over time and leads to complete sleeplessness. Other symptoms may include:
Memory loss and cognitive decline
Hallucinations and delusions
Anxiety and depression
Muscle stiffness and spasms
Loss of coordination and balance
Difficulty speaking and swallowing
Increased blood pressure and heart rate
Excessive sweating and fever
Weight loss and appetite loss
The symptoms of FFI are progressive and irreversible, and they eventually result in death. The average life expectancy after onset is 18 months, but some people may live longer or shorter.
FFI may resemble other neurological disorders or psychiatric conditions, making it difficult to diagnose. To rule out other possible causes, a doctor may ask about the person's medical history, family history, and sleep habits, as well as perform a physical examination and some tests. Diagnostic tests may include:
A polysomnography measures brain activity, eye movements, muscle activity, breathing, and heart rate during sleep. This can indicate reduced or absent sleep stages as well as abnormal movements during sleep in FFI.
PET scan, which uses a radioactive substance to measure brain activity, can reveal that the thalamus and other parts of the brain have reduced blood flow and metabolism.
FFI can be confirmed with genetic testing, which analyzes DNA from a blood sample to identify the mutation in the PRNP gene.
Neither a cure nor a treatment can stop or reverse the damage caused by abnormal prion proteins that cause FFI. However, some treatments may help to relieve some of the symptoms and improve the quality of life of the person with FFI and their caregivers. Some of these treatments include:
There are several medications that may help to relieve insomnia, anxiety, depression, hallucinations, and muscle spasms, including sedatives, hypnotics, anticonvulsants, antidepressants, and antipsychotics. For long-term use, these medications may not be effective and may have side effects.
FFI patients and their families may benefit from supportive care, such as palliative care, hospice care, or home care, which provides comfort, pain relief, and emotional support. Among these are nursing care, physical therapy, occupational therapy, speech therapy, nutrition, and counseling.
Researchers may use experimental therapies such as gene therapy, immunotherapy, or stem cell therapy to correct genetic defects, remove abnormal prion proteins, or replace damaged brain cells. Researchers and developers are still in the early stages of developing these therapies, so their safety and efficacy aren't yet known.
In spite of this, there are some steps you can take to reduce your risk of developing FFI or delay the onset of symptoms.
Genetic counseling and testing may help identify the carriers of the mutation in a family and inform them about the risks and options for reproduction. This can also help diagnose FFI early and begin treatment immediately.
Lifestyle habits such as eating a balanced diet, exercising regularly, avoiding alcohol and tobacco, and managing stress can contribute to a person's general health and well-being.
A regular sleep schedule, avoiding caffeine and other stimulants, creating a comfortable and dark sleeping environment, and relaxing before bedtime may improve quality and quantity of sleep and prevent sleep deprivation.
There are several neurological and psychiatric symptoms associated with FFI, which is a rare and fatal illness. It is caused by a mutation in the PRNP gene that leads to the accumulation of abnormal prion proteins in the thalamus, the part of the brain that regulates sleep. There is no cure or effective treatment for FFI, which is inherited or occurs sporadically. Treatments such as genetic counseling and testing, healthy lifestyle habits, and good sleep hygiene can help to manage symptoms and improve quality of life for those with FFI, as well as their caregivers.
