Two other prion diseases, Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker syndrome, may also occur because of variations of the PRNP gene, although some prion diseases occur in the absence of a genetic variation. Prion diseases are caused by the accumulation of misfolded prion proteins in the brain. There is no cure, but investigators are researching ways to best treat and manage FFI.įFI is classified as a transmissible spongiform encephalopathy (TSE) or a prion disease. This leads to the progressive loss of nerve cells (neurons) and the various symptoms associated with this disorder. 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 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 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.

A Podcast For The Rare Disease Community.

Chronic insomnia meaning