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See Inside April/May 2006

Hunting for Answers

A single mutation casts the death sentence of Huntington's disease. Researchers are pinning down how that mutation ruins neurons--knowledge that may suggest therapies

The cups fell to the floor with a crash. Was this the alarm signal? Or was it forgetting his sister's phone number the other day, even though he calls her often? Was the telling event last weekend, when he burst into a string of curse words and tailgated the driver who had just cut him off?

Incidents that to other people may seem like simple clumsiness, forgetfulness or an overreaction brought on by stress could mean disaster for Martin, a 48-year-old shipping agent. For years, he had been observing himself and his siblings with a sharp eye. Any little slip could constitute a somber omen. But after this latest string of mishaps, he could not bear the uncertainty any longer. He went in for the blood test. Three days later what Martin had feared since childhood was confirmed as the terrible truth: he was suffering from the genetic mutation that had killed his mother, his uncle and his grandfather.

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