- Familial fatal insomnia: a human prion disease which
opens the door to a greater understanding of the thalamus.
- In 1986, Lugaresi described fatal familial insomnia
(FFI), an inherited prion disease, characterised by untreatable insomnia
and dysautonomia. The most severe neuropathological changes have been found
in the mediodorsal (MD) and anterior (A) thalamic nuclei. The data lead
to think that the thalamus could play an important role in the wake-sleep
cycle and other vegetative and endocrine circadian activities, specially
MD and A.
- Some background on FFI, a prion disease:
- Fatal familial insomnia is a prion disease that interferes
with sleep, leading to deterioration of mental function.
- Fatal familial insomnia is a genetic disease, due to
a specific mutation in the PrPc gene. However, the disease can occur spontaneously,
without a mutation. This form is called sporadic fatal insomnia. Fatal
familial insomnia and sporadic fatal insomnia differ from other prion diseases
because they affect predominantly one area of the brain, the thalamus,
which influences sleep.
- The disease usually begins between the ages of 40 and
60 but may begin in a person's late 30s. Most often, it runs in families.
At first, people may have minor difficulties falling asleep and occasional
problems with muscle movements. Eventually, they lose the ability to sleep.
Other changes include muscle twitching, rapid heart rate, and dementia.
Death usually occurs after about 7 to 36 months of illness. No treatment
- If they can find a cure for FFI, then they will have
a cure for Mad Cow.
- Patricia Doyle
- Family Battles Fatal Insomnia
- Full story is here: