Management of fragile X-associated tremor ataxia syndrome: a review for clinicians.

Research overview

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Fragile X-associated tremor ataxia syndrome (FXTAS) is a multi-faceted and progressive neurodegenerative disorder that manifests clinically with action tremor, gait ataxia, parkinsonism, peripheral neuropathy, and cognitive and psychiatric features. The disease is highly heterogeneous and there are no FDA approved medications for FXTAS as a specific indication. As such, treatment is symptomatic and must be tailored to the specific needs of a given patient. This review provides expert opinion-based treatment recommendations for the core and ancillary clinical features of FXTAS. Movement disorders, such as tremor, ataxia and parkinsonism may respond to symptomatic medications and therapies, but caution is required when considering surgical interventions such as deep brain stimulation. Cognitive decline can be responsive to medications developed for other cognitive disorders, but these medications work best when combined with non-medication based approaches and all patients should be screened for other reversible causes of memory decline. Psychiatric symptoms, including anxiety, depression, and psychosis, can be treated with psychotherapy and medications; but caution is required to avoid exacerbating clinical and subclinical movement disorder features with psychotropic medications. Rehabilitative therapies, such as speech therapy, occupational, and physical therapy, often enhance patient function and quality of life. Exercise and good nutrition are recommendations that are common to other cerebellar ataxias and adult neurodegenerative disorders and may have a positive impact on general health. A multi-disciplinary approach is recommended to address all components of FXTAS.

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