Fatal familial insomnia

The Associated Press

Researchers have discovered a brain-wasting disease that begins with severe insomnia and ends in hallucinations and death.

The disease, sporadic fatal insomnia, is caused by the same type of deformed proteins, known as prions, that cause mad cow disease and its human variant, Creutzfeldt-Jakob disease, according to two studies. There is no known treatment or cure. It isn't clear what causes the disease, but scientists know it isn't inherited. And unlike one type of Creutzfeldt-Jakob disease, it isn't believed to come from infected meat. Instead, scientists suspect it is caused by a spontaneous mutation in a single brain or nerve cell. So far, they have identified only six cases of the disease, but there could be others that were misdiagnosed as other mind- destroying illnesses such as Alzheimer's disease. Prions are proteins with Jekyll-and-Hyde personalities that cluster in the brain. When their molecules are folded into the correct shape, prions are benign, though no one knows their function. Folded the wrong way, prions induce other proteins to mimic them. The misfolded prions then accumulate in parts of the brain, causing the tissue to break down and become full of holes, like a sponge. Different prion diseases attack different parts of the brain, causing characteristic types of dementia and death. Some are infectious, like mad cow disease in cattle and scrapie in sheep and goats. In humans, prion diseases are either inherited, caught from eating contaminated meat, or spontaneous. Researchers previously have identified an inherited prion disorder whose main symptom is sleeplessness, called fatal familial insomnia. In a case outlined in today's New England Journal of Medicine, a 44-year-old patient had all the symptoms of the inherited disease, including prions with the same "signature," but didn't have the inherited mutation. The case was reported by Dr. James Mastrianni, a neurologist at the University of Chicago.

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