That sleep of death

Those of us who suffer from insomnia can take solace that at least we are not members of the forty families afflicted with familial fatal insomnia. A prion disease thought to have originated with a single Italian man, known as Patient Zero, in the 18th century, it strikes in middle age and kills within the year by depriving its victims of sleep:

Silvano and other family members were filmed at the University of Bologna's sleep clinic. On the tape, Silvano looks as if he's sleepwalking. But he was really in a permanent state of pre-sleep behavior. And often, you will see him and other patients making gestures, like combing their hair or washing their hands or handling objects.

According to Dr. Elio Lugaresi, director of the sleep clinic, Silvano and the others were unable to drop into a deep REM sleep, and sleep medications only accelerated their restless descent toward death.

"We gave intravenous doses of barbiturates [in an] attempt to help the patient sleep," said Lugaresi. "The result was that they went from this pre-sleep, nonsleep, to deep coma without ever passing to a sleep stage."

Just before his death, Silvano made a remarkable and selfless offer, bequething his brain to researchers, which finally opened a window into the mystery of FFI.

Microscopic views showed that healthy proteins misfolded, triggered by genetic mutations, creating what doctors call prions. These abnormal proteins build up in the brain, forming clumps that destroy nerve cells, eventually leaving spongelike holes in the brain. Mad cow disease is also a prion disease.

"In fatal familial insomnia, most of the damage, and where the prions are accumulating, seems to be in an area of the brain called the thalamus," explained Dr. Michael Geschwind, who studies FFI at the University of California at San Francisco.

"The accumulation of the prion in the brain leads to nerve cell injury, and eventually, to nerve cell death."

Hat tip to Radley Balko for the link, but actually I already knew about the disease; it's the topic of a really good book called The Family That Couldn't Sleep by D.T. Max. I do not, however, recommend pulling this one out during the wee small hours when sleep won't come.