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: