Treatment and management of FXTAS

Deborah A. Hall, Maureen A. Leehey, Elizabeth Berry-Kravis, Randi J Hagerman

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Scopus citations

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 demonstrated efficacy for FXTAS symptoms, 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.

Original languageEnglish (US)
Title of host publicationFXTAS, FXPOI, and Other Premutation Disorders
PublisherSpringer International Publishing
Pages181-197
Number of pages17
ISBN (Electronic)9783319338989
ISBN (Print)9783319338965
DOIs
StatePublished - Jan 1 2016

Keywords

  • Ataxia
  • Deep brain stimulation
  • Memantine
  • Parkinsonism
  • Therapy
  • Treatment
  • Tremor

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Neuroscience(all)

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  • Cite this

    Hall, D. A., Leehey, M. A., Berry-Kravis, E., & Hagerman, R. J. (2016). Treatment and management of FXTAS. In FXTAS, FXPOI, and Other Premutation Disorders (pp. 181-197). Springer International Publishing. https://doi.org/10.1007/978-3-319-33898-9_9