All individuals with FXTAS are premutation carriers of the FMR1 (Fragile X) gene (CGG repeats 55-200). The job of the FMR1 gene is to make protein (FMRP) that is important in brain development. Researchers believe that (for unknown reasons) having the premutation leads to the overproduction of FMR1 mRNA (which contains the expanded repeats). They believe that the high levels of mRNA are what causes the signs and symptoms of FXTAS, but more research is needed. Note: Not all premutation carriers will develop FXTAS, but all individuals with FXTAS have an FMR1 premutation. Researchers are investigating what other factors might contribute to FXTAS in FMR1 premutation carriers.
- Fragile X Info Series: FXTAS
- Treatment and Intervention Recommendation for FXTAS
- View the following session from the 17th NFXF International Fragile X Conference Virtual Series: Fragile X-Associated Tremor/Ataxia Syndrome 101