Fatal familial insomnia
Fatal familial insomnia (FFI) is an hereditary prion disease characterized by disrupted sleep (insomnia), motor abnormalities (myoclonus, ataxia, dysarthria, dysphagia, and pyramidal signs), and hyperactivation of the autonomic
nervous system. Due to a missense mutation at codon 178 of the prion protein gene on chromosome 20. A sporadic form of fatal insomnia is also known.
Fatal familial insomnia is caused by prions, similar to Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. The same protein implicated in Creutzfeld-Jakob disease is altered (asparagine-178 is replaced by aspartic acid), causing amyloid plaques in the thalamus, the region of the brain responsible for sleep. The dysfunction of the thalamus results in insomnia. The disease usually begins between the ages of 40 and 60 but may begin in a person's late 30s. Most often, it runs in families. At first, people may have minor difficulties falling asleep and occasional problems with muscle movements. Eventually, they lose the ability to sleep. Other changes include muscle twitching, rapid heart rate, and dementia. Death usually occurs after about 7 to 36 months of illness. No treatment is available.
More information on prion diseases (Creutzfeldt-Jakob disease, fatal familial insomnia, kuru)
What're prion diseases? - Prion diseases (transmissible spongiform encephalopathies) are a group of inherited and spontaneous neurodegenerative disorders affecting animals and humans.
What is Creutzfeldt-Jakob disease? - Creutzfeldt-Jakob disease is degenerative brain disorder. Creutzfeldt-Jakob disease (CJD) is a rapidly progressive disease causing damage to the brain.
What types of Creutzfeldt-Jakob disease are there? - There are three types of Creutzfeldt-Jakob Disease: sporadic (or classical), hereditary (or familial) and acquired (or iatrogenic).
What's variant Creutzfeldt-Jakob disease (vCJD)? - Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition. vCJD affects younger patients.
What causes Creutzfeldt-Jakob disease? - There are three main causes for classic CJD. Creutzfeldt-Jakob disease through infection is transmitted by prions.
What're the symptoms of Creutzfeldt-Jakob disease? - Symptoms of Creutzfeldt-Jakob disease include forgetfulness and nervousness, jerky, trembling hand movements, unsteady gait, myoclonus.
How is Creutzfeldt-Jakob disease diagnosed? - Creutzfeldt-Jakob disease is diagnosed by a clinical neurological exam and electroencephalography (EEG).
What's the treatment for Creutzfeldt-Jakob disease? - There is no cure for Creutzfeldt-Jakob disease, and no treatment which slows the progression of the disease.
How to prevent Creutzfeldt-Jakob disease? - Creutzfeldt-Jakob disease is prevented by handling their fluids and tissues with extreme caution and by using special sterilization methods to disinfect equipment.
What is fatal familial insomnia? - Fatal familial insomnia is caused by prions, similar to Creutzfeldt-Jakob disease and bovine spongiform encephalopathy.
What is Kuru? - Kuru is a degenerative nerve disease caused by a prion (infectious protein) transmitted to humans via contaminated human brain tissue.