csua.org/u/7x5 -> www.nytimes.com/2001/05/06/magazine/06INSOMNIA.html?ex=1088222400&en=13c45cdd9cdbad7e&ei=5070
Photograph by Lyle Ashton Harris for The New York Times Lugaresi saw a connection between fatal insomnia and Creutzfeldt-Jakob disease. Sometime in their 50's, half the members of an aristocratic Italian family die of insomnia. In their search to understand their obscure gothic affliction, they inadvertently helped explain the cause of mad cow disease. I n 1791, in a small town near Venice, a man named Giacomo was born. Members of his family tended to be physically impressive, powerful and broad-shouldered (and still are today), but one day in the fall of 1836, at the age of 45, Giacomo fell mysteriously ill. Eventually he was confined to bed, lying awake in torment. Over the next century and a half, his descendants flourished. Family members would become prominent doctors and businessmen in the new state of Italy. One would own 130 apartments in Venice, including a palazzo on the Grand Canal. But running parallel with the family's affluence was an eerie record of premature death. Parish books over the decades noted oddities like "epilepsy and fever" and "nervous gastric fever." Later, family death certificates would name meningitis, Economo's disease, presenile dementia, leukoencephalitis, alcoholic encephalopathy and ictus. In fact, the cause of death was always the same: fatal familial insomnia, a genetic disease that was not formally identified until 1986. It is vanishingly rare, and for a time, Giacomo's descendants were the only people on the planet known to have it. In the typical case, one day in your early 50's, you suddenly can't sleep through the night. You try compensating with a nap in the afternoon but without luck. Your blood pressure and pulse become elevated, and you sweat heavily as your body goes into overdrive. Over the ensuing months, you try desperately, incessantly to sleep, sometimes closing your eyes but never succeeding in falling into more than a light stupor that provides no actual rest. Inside your brain, the traffic light that controls activity is perpetually green. A downward progression ensues as your ability to balance, walk or speak disappears. Perhaps most tragic, your ability to think remains intact; At first, you can talk about your agony and even write down your thoughts. As your body shuts down, only the desperate look in your eyes shows that you know what is going on. In the final phase, usually after several months, you fall into a state of exhaustion resembling a coma and, mercifully, die. At least 30 of Giacomo's descendants have died this way in the last century -- 13 since 1973, 7 in the past decade. Among the living, at least 25 more carry the gene that causes the disease. Within the Veneto region of Italy, where most of the family still lives, the knowledge of a family cursed with a strange disease has long been widespread. Although the women tend to be beautiful and the family cultured and wealthy, finding spouses is difficult. Here was a wealthy family with a problem -- sleeplessness -- so exotically un-Italian there is no easy word for it in the language. The media attention came around the same time as the first reports of another new European scourge, mad cow disease. Neighborhood children came by Elisabetta's home and made mooing noises. Elisabetta herself endured a psychosomatic attack of insomnia. But in their cruel way, the local children had intuited something important. Their hunch that mad cow disease and fatal familial insomnia were somehow connected would turn out to be right. Indeed, this realization would fundamentally expand our understanding of disease. One hundred sixty years after Giacomo's death, the king of Sweden shook hands with Stanley B Prusiner, a professor at the University of California at San Francisco, and gave him the 1997 Nobel Prize in medicine. It is unusual for a single researcher to receive the prize, but Prusiner's work was exceptional. He had shown that under certain conditions, the body's own proteins can warp and turn against it. He gave these deviant proteins an exotic name, prions (pronounced PREE-ons), and established that they cause a rare class of degenerative brain ailments: Creutzfeldt-Jakob disease for one and, more important, bovine spongiform encephalopathy. At the time of the award, the disease had killed two dozen people in England and one in France. It has since killed about 80 more people and spread in cattle throughout Europe. No one knows for sure, because the disease has such a long incubation period. Mad cow disease put Prusiner and his prions on the map in a way that a single family in the Veneto could never do. But how did Prusiner demonstrate that misfolded proteins could cause disease? He took material extracted from the brains of members of Elisabetta's family who had died of FFI He then injected this material into mice genetically altered to produce human prions. The mice developed FFI He performed the same experiment with brain matter from Creutzfeldt-Jakob victims and got parallel results. Then he killed these mice and shot prions from them into new mice and again got the two diseases. The conclusion was clear: malignant prions can cause disease, just as viruses or parasites or bacteria can. In the years since Prusiner's historic experiment, FFI has become much more than a curio disease. It sits at the crossroads of two new and exciting areas of scientific inquiry: sleep deprivation and prion research. In the past two decades, Giacomo's descendants have gone from being local pariahs to a family whose genetic material is sought by scientists around the world. And those who have fallen ill have been studied in minute detail by researchers exploring the fundamentals of sleep.
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