New Genetic Disorder Discovered
(Ivanhoe Newswire) -- Researchers from the University of California, Davis say they've discovered a new neurodegenerative disorder that mainly affects men over age 50.
The disorder is known as fragile X-associated tremor/ataxia syndrome, or FXTAS. Researchers say FXTAS affects men who carry a small mutation of the same gene that causes fragile X syndrome, the most common cause of inherited mental retardation. Nearly one in 800 men in the general population are thought to have this gene mutation, and researchers estimate 30 percent of carriers will likely develop FXTAS later in life.
Symptoms of FXTAS include tremors, balance problems and dementia that becomes increasingly more severe with age. Initial symptoms of the disorder may include difficulty writing, using eating utensils, pouring water, and walking. Researchers say, currently, many patients with FXTAS are being misdiagnosed as having Parkinson's disease or Alzheimer's.
Randi Hagerman, M.D., from UC Davis, says, "FXTAS may be one of the most common causes of tremor and balance problems in the adult population, yet it is being misdiagnosed because neurologists who see adults with movement disorders are not aware that they need to look for a family history of fragile X in grandchildren or to check for the presence of the permutation in the fragile X gene."
Researchers discovered the new disorder after studying 192 individuals whose families belong to the Northern or Southern California Fragile X Associations or were family members of UC Davis patients. Results of the study show 17 percent of men in their 50s, 38 percent of men in their 60s, 47 percent of men in their 70s, and 75 percent of men in their 80s had FXTAS. Researchers also found most carriers of the gene will develop at least mild symptoms.
Researchers say FXTAS may be diagnosed with a simple DNA blood test. They say men with a family history of fragile X syndrome should be screened for the disorder.
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SOURCE: Journal of the American Medical Association, 2004;291:460-469
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