How is Fragile X - associated tremor/ataxia syndrome (FXTAS) diagnosed?

• 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: 

• FXTAS    
• 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