- FXTAS only occurs in individuals who have a Fragile X (FMRl) premutation. Therefore, it is essential that anyone being considered for this diagnosis is tested for and confirmed as a premutation carrier. (Also see Fragile X Info Series: Testing.)
- Neurological exam.
- Magnetic resonance imaging (MRI) findings consistent with FXTAS, such as specific white matter lesions in the brain or generalized brain atrophy.
Find the latest information on FXTAS here:
- 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