Fragile X Info: Fragile X-Associated Tremor/Ataxia Syndrome

Fragile X Info: Fragile X-Associated Tremor/Ataxia Syndrome NATIONAL FRAGILE X FOUNDATION FRAGILE X INFO: FRAGILE X-ASSOCIATEO TREMOR/ATAXIA SYNDROME Overview Fragile Xis a group of conditions associated with changes in the Fragile X gene - called FMRl and located on the X chromosome. [...] • FXTAS affects men with more frequently than women because of the protective effect of the second X chromosome in women. [...] • The lifetime prevalence of FXTAS in the general population is estimated to be 1 in 8000. [...] Interventions and Treatments The goal of therapy for FXTAS is to reduce symptoms and eventually to slow the progression of disease. [...] • For women with FXTAS (again, those confirmed to be premutation carriers), each child will have a 50% chance of receiving the FMRl mutation, with the potential of their premutation expanding to a full mutation (>200 CGG repeats).