Fragile X-Associated Tremor & Ataxia Syndrome (FXTAS): NICHD Research Goals

Problems associated with the FMR1 gene mutation fall into the research portfolios of multiple NIH Institutes, including the NICHD. To help coordinate research on FMR1, the NICHD leads the NIH Fragile X Research Coordinating Group, which includes nine NIH Institutes with research interests on different aspects of fragile X. The group consulted with outside experts and in 2008 published a long-term agenda for FMR1 research, called the NIH Research Plan on Fragile X Syndrome and Associated Disorders. Finding treatments and supporting families impacted by fragile X and its related disorders are major goals of the plan.

The NIH is committed to continuing to learn as much as possible about the FMR1 gene and its far-reaching effects. The story of fragile X might also serve as an effective and useful model for studying other diseases, and for moving research discoveries from the laboratory into everyday life.

Among the group's goals with implications for FXTAS are the following:

  • Finding treatments for the underlying protein dysfunction that causes fragile X-associated disorders. Studies in fruit flies and mice have resulted in several promising molecules that are either in human clinical trials today or are on their way.
  • Furthering understanding of why FMR1 premutations affect some people but not others. This includes the study of why FXTAS is more common among men than women and how the genetic changes lead to specific symptoms. Research could also help document the frequency of premutations in the general population and improve understanding of when FXTAS develops in families in which FMR1 premutations are common.
  • Documenting the different kinds of symptoms that develop and how they change over time. This includes research on defining the neurological, cognitive, behavioral, and emotional symptoms of FXTAS and developing instruments that can measure changes in motor function and other signs. Better instruments and an improved understanding of risk factors could help clinicians identify FXTAS earlier.
  • Understanding whether other conditions are linked with fragile X-associated conditions.
  • Developing ways to better diagnose and treat FXTAS.
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