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Genetic screening recommended to detect new neurodegenerative disorder in men over age 50

dementia. Family genetic counseling can help those affected with FXTAS, as well as future generations who may inherit fragile X syndrome. Research studies also are under way to specifically determine which medications are better suited to alleviate FXTAS-related problems, and whether other therapies, such as surgery to disable nerve tracks, may actually exacerbate balance problems.

Hagerman, a developmental and behavioral pediatrician who has specialized in the diagnosis, research and treatment of fragile X for more than 20 years, began looking for a connection between children and their grandfathers because the mothers of her fragile X patients were worried about their own fathers, who were falling down, becoming forgetful and experiencing other neurological problems. Hagerman, along with her husband, Paul, a professor of biological chemistry at UC Davis School of Medicine, led the team of researchers from UC Davis M.I.N.D. Institute, University of Colorado Health Sciences Center, and RUSH-Presbyterian-St. Luke's Medical Center in the JAMA study.

The researchers looked at 192 individuals whose families belong to the Northern or Southern California Fragile X Associations or who were family members of patients seen at the UC Davis M.I.N.D. Institute. While only 17 percent of the men in their 50s had FXTAS, the percentage of individuals with tremors and balance problems increased with each decade of life, to 38 percent of men in their 60s, 47 percent of men in their 70s, and 75 percent of men in their 80s. The study also showed that the majority of older males carriers of the premutation will develop at least mild symptoms of FXTAS.

FXTAS is characterized by tremors, balance problems and dementia that become increasingly more severe with age. Initial signs of the disorder may include difficulty writing, using eating utensils, pouring water and walking. These initial symptoms progress over years or even decades, until carrying out many of the ta
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Contact: Carole Gan
916-762-2089
University of California, Davis - Health System
27-Jan-2004


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