Management of fragile X-associated tremor ataxia syndrome: a review for clinicians.
10 affiliations
- 1Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, United States.
- 2Department of Communication Sciences and Disorders, University of South Carolina, Columbia, SC, United States.
- 3Department of Neurology, University of Michigan, Ann Arbor, MI, United States.
- 4Veterans Administration Ann Arbor Healthcare System, Ann Arbor, MI, United States.
- 5Department of Speech, Language and Hearing Sciences, University of Arizona, Tucson, AZ, United States.
- 6Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro, Bari, Italy.
- 7Department of Pharmacology, Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
- 8Department of Neurology, Emory University School of Medicine, Atlanta, GA, United States.
- 9Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA, United States.
- 10UCSF Weill Institute for Neurosciences, San Francisco, CA, United States.
Abstract
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.
Related
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- Altered social cue processing in a mouse model of Fragile X Syndrome
- CB1 receptor inhibition restores synaptoneurosomal alternative splicing landscape in fragile X syndrome mice
BibTeX
@article{hall2026management,
title = {{Management of fragile X-associated tremor ataxia syndrome: a review for clinicians.}},
author = {Deborah A Hall and David Andrés González and Jessica Klusek and Peter K Todd and Joan A O'Keefe and Nell Maltman and Federica Alice Maria Montanaro and Dragana Protic and Laura Scorr and Rabia Malik and Pierpaolo Turcano and Matthew S Meyers and Andreea Seritan},
journal = {Frontiers in neurology},
year = {2026},
month = oct,
doi = {10.3389/fneur.2026.1870779},
url = {https://europepmc.org/article/MED/42909313},
note = {CC BY},
}
RIS
TY - JOUR
TI - Management of fragile X-associated tremor ataxia syndrome: a review for clinicians.
AU - Deborah A Hall
AU - David Andrés González
AU - Jessica Klusek
AU - Peter K Todd
AU - Joan A O'Keefe
AU - Nell Maltman
AU - Federica Alice Maria Montanaro
AU - Dragana Protic
AU - Laura Scorr
AU - Rabia Malik
AU - Pierpaolo Turcano
AU - Matthew S Meyers
AU - Andreea Seritan
PY - 2026
DA - 2026/10/07
JO - Frontiers in neurology
DO - 10.3389/fneur.2026.1870779
UR - https://europepmc.org/article/MED/42909313
AB - 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.
SN - 1664-2295
ER -