Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS) : Condition Information

What is Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS)?

FXTAS is a condition that develops in some men and women who have an altered form of a specific gene. People with FXTAS have a change or mutation in a gene called the Fragile X Mental Retardation 1 (FMR1) gene. This gene is found on the X chromosome. To learn more, visit the How is a change in a gene related to FXTAS? section.

FXTAS occurs later in life (in people older than age 50) and is characterized by tremors when making purposeful movements, balance problems, Parkinson's-like symptoms such as muscle stiffness or rigidity, and memory loss. Most people have no symptoms until the onset of the condition later in life.

FXTAS is less common among women, and their symptoms are often milder, but having the FMR1 premutation still puts them at risk for FXTAS.1


Citations

  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.

How is a change in a gene related to FXTAS? »