Fatal familial insomnia is an extremely rare genetic (and even more rarely, sporadic) disorder that results in trouble sleeping as its hallmark symptom. The problems with sleeping typically start out gradually and worsen over time. Other symptoms may include speech problems, coordination problems, and dementia. It results in death within a few months to a few years.Fatal familial insomnia is a prion disease of the brain. It is usually caused by a mutation to the gene encoding protein PrPC. It has two forms: fatal familial insomnia (FFI), which is autosomal dominant, and sporadic fatal insomnia (sFI), which lacks the gene mutation. Diagnosis is suspected based on symptoms and can be supported by a sleep study, a PET scan, and genetic testing if the patients family has a history of the disease. Similar to other prion diseases, the diagnosis can only be confirmed by a brain autopsy at post-mortem.Fatal insomnia has no known cure and involves progressively worsening insomnia, which leads to hallucinations, delirium, and confusional states like that of dementia, until the patient slips into a stupor and eventually dies. The average survival time from onset of symptoms is 18 months. The first recorded case was an Italian man who died in Venice in 1765. Signs and symptoms
The disease has four stages:
Characterized by worsening insomnia, resulting in panic attacks, paranoia, and phobias. This stage lasts for about four months. Hallucinations and panic attacks become noticeable, continuing for about five months. Complete inability to sleep is followed by rapid loss of weight.
While he tended to fall asleep during random daily activities, he experienced vivid dreams and random muscular jerks during normal slow-wave sleep. After four months of these symptoms, he began to have convulsions in his hands, trunk, and lower limbs while awake. The person died at age 58, seven months after the onset of symptoms. An autopsy revealed mild atrophy of the frontal cortex and moderate atrophy of the thalamus. The latter is one of the most common signs of FFI. Research
Still with unclear benefit in humans, a number of treatments have had tentative success in slowing disease progression in animal models, including pentosan polysulfate, mepacrine, and amphotericin B. As of 2016, a study investigating doxycycline is being carried out.In 2009, 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.The Prion Alliance was established by husband and wife duo Eric Minikel and Sonia Vallabh after Vallabhs mother was diagnosed with the fatal disease. They conduct research at the Broad Institute to develop therapeutics for human prion diseases. Other research interests involve identifying biomarkers to track the progression of prion disease in living people. References
External links

"AFIFF Fatal Familial Insomnia Families Association".