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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.
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.
FXTAS occurs only in those who have the premutation on the FMR1 gene. But not everyone with the premutation will develop FXTAS.
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.
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.
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.
Research
NICHD conducts and supports research on FXTAS and on many disorders associated with FXTAS.
Find a Study
NICHD conducts and supports a variety of clinical research projects related to FXTAS.
More Information
Find answers to other common questions about FXTAS, such as conditions associated with FXTAS, how it is inherited, and misdiagnosis.
Links to websites of groups that study or provide information about FXTAS.
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