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Diagnosis X: Zeroing in on a new condition

Physicians have known for years about fragile X syndrome in children. But researchers have now uncovered a related genetic disorder that emerges late in adulthood.

By Kathleen Phalen Tomaselli, amednews correspondent. July 5, 2004.

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For decades, the mutant genetic blueprint slipped past the most ardent gene stalkers -- even those familiar with fragile X syndrome and CGG expansions, mutations and premutations. Though unnoticed, it continued its habit -- repeating and replicating, expanding until its errant ways could no longer be masked.

Then came the symptoms. The slight tremor, the falls, the difficulty writing. Some blamed it on age, some on culprits such as Parkinson's. Still, those who carried this genetic anomaly got worse, not knowing why.

It was Randi J. Hagerman, MD, a pediatrician and director of the MIND Institute at the University of California, Davis, who first became suspicious. She began linking patterns and patients after the mothers of children with fragile X syndrome complained about the health of the kids' grandfathers. An uncanny similarity in the complaints of those in the older generation -- mostly tremor and balance problems -- led her, along with biochemist husband, Paul J. Hagerman, MD, PhD, a UC-Davis professor, to explore the genetic links.

"Randi ... made the connection in 2000," Dr. Paul Hagerman says. "Then it was solidified at the National Fragile X Conference. We were giving a presentation and asked if anyone's dad had this problem. At least a third of the mothers in the audience raised their hands and it was at that moment I decided to get seriously involved."

The pair, along with a cadre of researchers from UC-Davis, University of Colorado Health Sciences Center in Denver, San Diego State University and Rush-Presbyterian St. Luke's Medical Center in Chicago, began unmasking the effects of the rogue genetic behavior.