How many people are affected by or at risk of Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS)?

The exact number of people with a premutation is unknown. Research shows that about 1 in 151 females and 1 in 468 males may have an FMR1 gene premutation, which puts them at risk for FXTAS.1 But not everyone with a premutation will show symptoms.

FXTAS is less common among women, and their symptoms are generally milder.2

In people with a premutation, 30% to 40% of men older than 503 and 8% of women older than age 50 will develop FXTAS.4

  1. Seltzer, M. M., Baker, M. W., Hong, J., Maenner, M., Greenberg, J., & Mandel, D. (2012). Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 159B(5), 589–597. [top]
  2. National Fragile X Foundation (n.d.). FXTAS vs FXS. Retrieved May 7, 2012, External Web Site Policy [top]
  3. Jaquemont, S., Hagerman, R. J., Leehey, M. A., Hall, D. A., Levine, R.A., Brunberg, J. A., et al. (2004) Penetrance of the fragile X associated tremor/ataxia syndrome in a premutation carrier population. Journal of the American Medical Association, 291,460–469. [top]
  4. National Fragile X Foundation. (2011). Prevalence of FXTAS. Retrieved May 7, 2012, from External Web Site Policy [top]

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