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

sks of daily living and walking without assistance becomes difficult or impossible. Other features include short-term memory loss, anxiety, decreased sensation in the lower extremities to touch and vibration, lower-limb muscle weakness and parkinsonism.

"FXTAS is an enigma," said Hagerman, who also holds the Tsakopoulos-Vismara Endowed Chair in Pediatrics at the UC Davis School of Medicine and Medical Center. "The disorder appears later in life in men who are generally healthy throughout childhood and early-to-mid-adulthood and have normal to above-average intelligence, yet is caused by a defect in a gene known to cause mental retardation usually diagnosed in early childhood."

The underlying cause of FXTAS is a change, or mutation, in the fragile X mental retardation 1 gene, or FMR1. Under normal conditions, this gene produces a protein that maintains the proper functioning of nerve cells in the brain. The gene causes both fragile X syndrome and FXTAS when a particular segment of DNA is repeated too many times. The repetition informally is called a "CGG repeat" because it contains the same trio of DNA building blocks -- cytosine, guanine, and guanine in the same repetitive order.

The average person has 30 CGG repeats in the FMR1 gene. When an individual has 200 or more CGG repeats in the FMR1 gene, the individual makes little or no FMR1 protein and has fragile X syndrome. With 55 to 200 CGG repeats, an individual is considered a carrier of the premutation, which can lead to FXTAS later in life and to fragile X (the full mutation) in the next generations. Male carriers are at high risk to develop FXTAS, as well as for passing on the gene mutation to all of their daughters, who in turn are at risk to have children with fragile X syndrome.

Tissue and postmortem studies of brains from FXTAS patients, led by Paul Hagerman and UC Davis assistant professor of pathology Claudia Greco, showed accumulations of abnormal
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Contact: Carole Gan
916-762-2089
University of California, Davis - Health System
27-Jan-2004


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