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Treatment and Management of FXTAS

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FXTAS, FXPOI, and Other Premutation Disorders

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.

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Acknowledgments

This work was partially supported by the following grants: NIA AG032115, NIDCR DE19583, NICHD HD036071, NINDS NS052487, and HD 022074 and 90DD0956 from the Health and Human Services Administration of Developmental Disabilities.

Author information

Authors and Affiliations

  1. Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA

    Deborah A. Hall

  2. Department of Neurology, University of Colorado at Denver and Health Sciences Center, Aurora, CO, USA

    Maureen A. Leehey

  3. Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, IL, USA

    Elizabeth Berry-Kravis

  4. Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA

    Randi J. Hagerman

  5. MIND Institute, UC Davis Medical Center, Sacramento, CA, USA

    Randi J. Hagerman

Authors
  1. Deborah A. Hall
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  2. Maureen A. Leehey
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  3. Elizabeth Berry-Kravis
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  4. Randi J. Hagerman
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Corresponding author

Correspondence to Deborah A. Hall .

Editor information

Editors and Affiliations

  1. Department of Biochemistry and Molecular Medicine, University of California, Davis, California, USA

    Flora Tassone

  2. Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA

    Deborah A. Hall

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Hall, D.A., Leehey, M.A., Berry-Kravis, E., Hagerman, R.J. (2016). Treatment and Management of FXTAS. In: Tassone, F., Hall, D. (eds) FXTAS, FXPOI, and Other Premutation Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-33898-9_9

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