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Fatal Familial Insomnia

Fatal Familial Insomnia is an autosomal dominant inherited, non-infectious brain disease. It is caused by prions, similar to Creutzfeldt-Jakob Disease and Bovine Spongiform Encephalopathy. A certain protein 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 average age for the disease to take place is 50. There are four stages, taking seven to eighteen month:

  1. Increasing insomnia, resulting in panic attacks and phobias. It lasts about four month.
  2. Hallucinations and panic attacks for about five month.
  3. Total insomnia, rapid loss of weight. Lasts about three month.
  4. Dementia, turning mute[?]. Lasts about six month. Always results in death.

There is no known cure; hopes rest on the so far unsuccessful gene therapy.



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