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
- 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]
- National Fragile X Foundation (n.d.). FXTAS vs FXS. Retrieved May 7, 2012, https://fragilex.org/fragile-x/fxtas/fxtas-vs-fxs/ [top]
- 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]
- National Fragile X Foundation. (2011). Prevalence of FXTAS. Retrieved May 7, 2012, from http://www.fxtas.org/prevalence.htm [top]