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Same gene found to cause mental retardation in children, neurodegenerative condition in older males

HONOLULU, HI Researchers have recently discovered a progressive neurodegenerative condition -- resulting in tremor, balance problems, and dementia -- which may affect as many as one in 3,000 men. This condition has now been associated with the same gene that causes fragile X syndrome, the most common heritable form of mental retardation. Findings of this study are being presented at the American Academy of Neurology Annual Meeting in Honolulu, March 29-April 5, 2003.

Remarkably, the same gene has been found to cause these two different and independent syndromes, affecting different groups of individuals. Fragile X syndrome is a developmental disorder beginning in childhood, while the newly identified neurological syndrome (Fragile X Associated Tremor/Ataxia Syndrome, or FXTAS) affects mainly male carriers who were not affected by fragile X syndrome retardation, and who displayed no symptoms prior to age 50.

"We discovered that FXTAS-affected individuals have numerous inclusions, or spherical particles, in their brain cells," noted study author Paul Hagerman, MD, PhD, professor of Biological Chemistry at the University of California Davis School of Medicine. Through this study, the researchers are determining what is in the inclusions and why they form. "We believe this finding is an important clue as to the cause of the disorder, one that may ultimately help with development of therapies for both the tremor disorder and fragile X syndrome."

Currently, male carriers of the gene do not know they are carriers unless there is an affected grandchild in the family. This is how the researchers have discovered the cases studied to date. Affected individuals have thus far been given other, descriptive diagnoses, such as "atypical Parkinson disease," and have in many cases seen multiple neurologists in their efforts to diagnose their condition.

"We hope that one of the positive outcomes of our investigations will be a greater awareness withi
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Contact: Marilee Reu
mreu@aan.com
651-695-2789
American Academy of Neurology
2-Apr-2003


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