Fatal Familial Insomnia: The Disease That Eliminates Sleep

Fatal Familial Insomnia (FFI) is an extremely rare prion disease first documented in 1986, affecting approximately one person per million worldwide. Unlike ordinary insomnia, FFI causes patients to physically lose the ability to sleep, leading to death within 12-18 months despite medical intervention. The condition stems from a specific mutation in the PRNP gene on chromosome 20, with an autosomal dominant inheritance pattern, which means that children of affected parents have a 50% chance of inheriting it. The disease progresses through four devastating stages: initial insomnia with panic attacks, hallucinations with autonomic disruption, complete insomnia with severe weight loss, and finally dementia with autonomic failure leading to death. FFI's study has advanced understanding of sleep's essential nature and the mechanisms of protein misfolding diseases, with ongoing research exploring potential treatments through gene editing and protein stabilization approaches.

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