Fatal familial insomnia (FFI) is a very rare autosomal dominant inherited disease of the brain. The dominant gene responsible has been found in just 28 families worldwide; if only one parent has the gene, the offspring have a 50:50 chance of inheriting it and developing the disease. The disease's genesis and the patient's progression into complete sleeplessness is untreatable, and ultimately fatal. The International Statistical Classification of Diseases and Related Health Problems (commonly known by the abbreviation ICD) is a detailed description of known diseases and injuries. ... The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... The International Statistical Classification of Diseases and Related Health Problems (commonly known by the abbreviation ICD) is a detailed description of known diseases and injuries. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... An autosome is a non-sex chromosome. ... It has been suggested that dominant gene be merged into this article or section. ... Contagious redirects here. ... In animals, the brain, or encephalon (Greek for in the head), is the control center of the central nervous system. ...

It was first detected by Italian doctor Ignazio Roiter in 1979, who discovered two women from one family who apparently died of insomnia. Family records showed a history of seemingly related deaths. When another member of the family fell ill in 1984, his deterioration was studied and after his death, his brain was flown to the U.S. for further investigation. Insomnia is characterized by an inability to sleep and/or to be incapable of remaining asleep for a reasonable period. ...

In the late 1990s, researchers discovered that the disease is caused by a mutation in a protein called a prion protein (PrP): asparagine-178 is replaced by aspartic acid. The mutation changes the shape of the protein so that it becomes a prion and makes other, normal protein molecules change to the abnormal shape. A representation of the 3D structure of myoglobin, showing coloured alpha helices. ... A prion (IPA: [1]  ) — short for proteinaceous infectious particle — (by analogy to virion) is a type of infectious agent. ... Asparagine is one of the 20 most common natural amino acids on Earth. ... Aspartic acid (Asp), also known as aspartate, the name of its anion, is one of the 20 natural proteinogenic amino acids which are the building blocks of proteins. ...

This causes plaques to develop in the thalamus, the region of the brain responsible for regulation of sleep. This first results in insomnia, and then progresses to more serious problems over time. Amyloid describes various types of protein aggregations that share specific traits when examined microscopically. ... To meet Wikipedias quality standards, this article or section may require cleanup. ... Sleep is the state of natural rest observed in most mammals, birds, fish, as well as invertebrates such as the fruitfly Drosophila. ...

The age of onset is variable, ranging from 30 to 60, with an average of 50. Death usually occurs between 7 to 36 months from onset. The presentation of the disease varies considerably from person to person, even among patients from within the same family.

The disease has four stages, taking 7 to 18 months to run its course:

1. The patient suffers increasing insomnia, resulting in panic attacks and phobias. This stage lasts about four months.
2. Hallucinations and panic attacks become noticeable, continuing about five months.
3. Complete inability to sleep is followed by rapid loss of weight. This lasts about three months.
4. Dementia, turning unresponsive or mute over the course of six months. This is the final progression of the disease, and the patient will subsequently die.

There is no cure or treatment for FFI; hopes rest on the so far unsuccessful gene therapy. Sleeping pills have no effect. A panic attack is a period of intense fear or discomfort, typically with an abrupt onset and usually lasting no more than thirty minutes. ... This article or section is in need of attention from an expert on the subject. ... An hallucination is a sensory perception experienced in the absence of an external stimulus, as distinct from an illusion, which is a misperception of an external stimulus. ... A panic attack is a period of intense fear or discomfort, typically with an abrupt onset and usually lasting no more than thirty minutes. ... The MUTE Network, MUTE-net for short, is a peer-to-peer and friend-to-friend file sharing network developed with anonymity in mind. ... Gene therapy using an Adenovirus vector. ...

There are other diseases involving the mammalian prion. Some are transmissible (TSEs) such as kuru, bovine spongiform encephalopathy (BSE, also known as "mad cow disease") in cows, and chronic wasting disease in American deer and American elk (in some areas of the Rocky Mountains). Some forms of congestive heart failure are also believed to be caused by variant prion, as well as Creutzfeldt-Jakob disease (CJD). These are generally not considered to be transmissible, except by direct contact with infected tissue, such as cannibalism, transfusion or transplantation. Transmissible spongiform encephalopathies (TSEs) are fatal degenerative diseases of the brain transmitted by prions with no cure. ... Kuru (also known as laughing sickness due to the outbursts of laughter that mark its second phase) was first noted in New Guinea in the early 1900s. ... Bovine spongiform encephalopathy (BSE) commonly known as mad cow disease, is a fatal, neurodegenerative disease of cattle, which infects by a mechanism that surprised biologists on its discovery in the late 20th century. ... Chronic wasting disease (CWD) is a transmissible spongiform encephalopathy (TSE) of deer and American elk (wapiti). ... Subfamilies Capreolinae Cervinae Hydropotinae Muntiacinae A deer is a ruminant mammal belonging to the family Cervidae. ... Binomial name Cervus elaphus Linnaeus, 1758 Red Deer (Cervus elaphus), known as Elk in North America, are the second largest species of deer in the world, after Alces alces (the moose or, in Europe, elk). ... Moraine Lake, and the Valley of the Ten Peaks, Banff National Park, British Colombia, Canada The Rocky Mountains, often called the Rockies, are a broad mountain range in western North America. ... Creutzfeldt-Jakob Disease (CJD) is a very rare and incurable degenerative neurological disorder (brain disease) that is ultimately fatal. ...

References

• Case study
• Mendelian Inheritance in Man (OMIM) 600072
• Montagna P, Gambetti P, Cortelli P, Lugaresi E (2003). "Familial and sporadic fatal insomnia". Lancet Neurol 2 (3): 167-76. PMID 12849238.
• Fatal Familial Insomnia: A New Australian Family

The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...

External links

• Family battles fatal insomnia
• AFIFF - Associazione Familiari Insonnia Familiare Fatale malattie da prioni (English language version)