Treatment and management of FXTAS

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) affects older adult carriers of the FMR1 premutation and can be associated with a broad array of clinical symptoms and presentations including tremor, ataxia, parkinsonism, executive function disturbance and dementia, psychiatric symptoms of anxiety, depression and disinhibition, peripheral neuropathy, autonomic dysfunction, hormonal dysfunction, and pain syndromes. Although controlled trials have not been carried out in individuals with FXTAS, there is information available regarding symptomatic treatments. Treatment is generally supportive, directed at component symptoms that are most problematic, and makes use of evidence regarding effectiveness of medications and other interventions for treatment of disorders that have phenotypic overlap with FXTAS. This chapter summarizes available treatments and supports that can be helpful for persons with FXTAS.