In FFI, the abnormal prions build up primarily within the thalamus of the brain. Alterations in this gene lead to the generation of abnormally-shaped (misfolded) prion protein, also known simply as a “prion”, which is toxic to the body. The PRNP gene regulates the production of the human prion protein. In all instances, FFI is caused by an abnormal variant in the prion-related protein ( PRNP) gene, although sometimes, the disorder occurs randomly, without a variant PRNP gene (sporadic fatal insomnia, or SFI). Specific symptoms observed depend on the part of the autonomic nervous system that is affected by the disease. Affected individuals may also develop dysfunction of the autonomic nervous system, the part of the nervous system that controls involuntary or automatic body processes – which are things that happen without a person thinking about them, such as body temperature regulation, sweating, breathing or regulating the heart rate. It is characterized by an inability to sleep (insomnia) that may be initially mild, but progressively worsens, leading to significant physical and mental deterioration. Stay Informed With NORD’s Email Newsletterįatal familial insomnia (FFI) is a rare genetic degenerative brain disorder.Find a Rare Disease Patient Organization.Rare Disease Cures Accelerator (RDCA-DAP).Find Clinical Trials & Research Studies.Launching Registries & Natural History Studies.
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