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Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS) : NICHD Research Information

The NICHD conducts and supports research on many aspects of FXTAS and other fragile X-associated conditions, including what causes them and how they might be prevented or treated. Researchers are seeking factors that explain why some people with the FMR1 premutation have symptoms of FXTAS while others do not. Other studies focus on collecting data from people with known FMR1 mutations and premutations, and from their family members, to see if these mutations or premutations are associated with other diseases or conditions. Research is seeking easier, less expensive, and more accurate screening and diagnostic tests that can provide detailed information on a person’s FMR1 status.

Last Updated Date: 11/30/2012
Last Reviewed Date: 11/30/2012

Scientific Resources

Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Epidemiology Statistics and Prevention Branch Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology