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

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.

Citations

  1. Hagerman, R. J. Genotype-phenotype relationships in fragile X families. Retrieved August 21, 2012, from https://projectreporter.nih.gov/project_info_description.cfm?aid=8064264&icde=11603567
  2. Latham, G. J. Enabling use of blood spot cards for accurate high-throughput fragile X screening. Retrieved August 21, 2012, from https://projectreporter.nih.gov/project_info_description.cfm?aid=8124769&icde=11603103

 

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