- autosomal dominant inherited prion disease of the brain.
- almost always caused by amutation to the protein PrPC,
- can also develop spontaneously in patients with a non-inherited mutation variant called sporadic fatal insomnia
- Normal sleep has different stages that together last 90 to 100 minutes:
- Non REM Stages 1 and 2: Light sleep NREM-sleep
- Non REM Stages 3 and 4: Deep slow wave sleep (SWS)
- REM-sleep when dreams occur
FFI patients cannot go past stage 1 and thus their brains are not getting the rest they need to revive, as most reviving and repairing processes of the body are believed to happen during these deeper sleep stages.
- no known cure
- sleeping pills and barbiturates are unhelpful and have been shown to worsen the clinical manifestations and hasten the course of the disease
Manifestation: Signs and Symptoms
- progressively worsening insomnia
- dementia-like confusion
- random muscular jerks
- terminal around 18 months following symptom onset
There are 25 reported families in the world that carry the gene for FFI: 5 Italian, 2 French, 4 American, 1 Japanese, 2 Australian, 8 German, 1 Austrian, and 2 British.