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Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS)
FXTAS is a late-onset condition (occurs in people older than age 50) that develops in some men and women with an altered form of the Fragile X gene. Those with FXTAS do not have the intellectual or developmental disabilities common in Fragile X syndrome.
NICHD-supported researchers were the first to identify FXTAS and link it to changes in the FMR1 gene, which causes Fragile X syndrome. The institute is one of several federal agencies working to understand FXTAS and other conditions caused by changes in the FMR1 gene.
General Information
FXTAS is a condition that develops in some men and women who have an altered form the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene.
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In the FMR1 gene, the DNA sequence for making a protein has an introduction section called the promoter. People with FXTAS have a premutation in the DNA sequence for the promoter.
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FXTAS occurs only in those who have the premutation on the FMR1 gene. But not everyone with the premutation will develop FXTAS.
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Although FXTAS affects individuals differently, the symptoms are similar to those of Parkinson's or Alzheimer's disease, including memory loss, slowed speech, tremors, and a shuffling gait.
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Healthcare providers can order a blood test to determine if a person who has symptoms of FXTAS is a carrier. A laboratory will conduct the tests to determine what form of the FMR1 gene is present.
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Certain medications and therapies are helpful for treating symptoms of FXTAS and may help slow its progression. However, no treatment can stop FXTAS from progressing and none is considered a cure.
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Research
NICHD conducts and supports research on FXTAS and on many disorders associated with FXTAS.
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Find a Study
NICHD conducts and supports a variety of clinical research projects related to FXTAS.
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Find answers to other common questions about FXTAS, such as conditions associated with FXTAS, how it is inherited, and misdiagnosis.
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Links to websites of groups that study or provide information about FXTAS.
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