Fragile X-associated Tremor/Ataxia Syndrome — Webinar

With Deborah Hall, MD and Peter Todd, MD

Fragile X–Associated Tremor/Ataxia Syndrome (FXTAS) is an adult-onset neurodegenerative disorder related to the Fragile X premutation. All individuals with FXTAS have the premutation of the FMR1 (Fragile X) gene (CGG repeats 55-200). FXTAS affects the neurologic system and progresses at varying rates in different individuals.  This one-hour moderated Q&A session discussed the diagnostic criteria, common symptoms, strategies and treatments to manage the effects of FXTAS, and the importance of research. While there is no cure for FXTAS, there has been positive progress in clinical care and treatment, providing hope for the future.

NFXF Webinar Series: Fragile X-associated Tremor/Ataxia Syndrome

Fragile X-associated Tremor/Ataxia (FXTAS) Discussion

The webinar was a facilitated one-hour Question and Answer session covering a wide-range of topics. The panelists shared resources and information during the discussion.

• Diagnosing FXTAS can be a complex process. Symptoms vary in individuals diagnosed with FXTAS, but every individual will have a FMR1 (Fragile X) premutation repeat expansion. Learn about FMR1 DNA genetic testing.
• There are clinics and research locations specializing in the treatment of FXTAS (locate the closest center HERE). If visiting a clinic is not possible, share this FXTAS Treatment Recommendation with your local healthcare provider. The FXTAS Treatment Recommendation is available in Spanish HERE.
• Treatments, interventions, and strategies are focused on reducing FXTAS symptoms and involve appropriate follow-up by a healthcare provider. While there are common symptoms, certain symptoms may be more interruptive for certain individuals, and providers will take that into consideration when choosing appropriate interventions. The panelists explained that interventions may require several weeks to evaluate the effectiveness.
• It is important to consult with your healthcare provider if considering adding or adjusting any intervention, including over-the-counter medications and supplements.
• Maintaining general health and wellness is crucial. Panelists encouraged individuals to engage in consistent and regular physical activity following the American Heart Association recommendations to support health and wellness.
• Panelists encouraged the use of supportive services and counseling for the individual, caregiver(s), and the family.
• Research is helping inform FXTAS treatments and interventions. One of the major efforts to support the future of FXTAS and broad Fragile X premutation research is the International Fragile X Premutation Registry. You can register for the International Fragile X Premutation Registry HERE.

The NFXF is looking for individuals to share their feedback about future FXTAS programming. If you or a loved one has FXTAS and you are interested in being contacted to share your feedback, please complete this form.

Learn More About the Panelists

Dr. Peter Todd is the Bucky and Patti Harris Professor in the Department of Neurology at the University of Michigan Medical School. As a clinician, Dr. Todd co-directs Michigan University’s Multidisciplinary Ataxia Clinic where he sees patients with FXTAS (Fragile X-associated tremor/ataxia syndrome), and the Fragile X Syndrome Clinic  where he sees adult patients with Fragile X syndrome. He  also serves as director of the Clinical Neurogenetics Research Program, which aims to improve research and care for patients with inherited neurological disorders.

As a physician-scientist, the Peter Todd Lab studies the mechanisms by which nucleotide repeat expansions cause neurodevelopmental and neurodegenerative disorders with a long-term goal of developing novel therapeutics for currently untreatable conditions. His lab has published extensively on Fragile X-associated disorders, such as Fragile X syndrome and FXTAS, as well as C9orf72 repeat expansions that cause ALS (amyotrophic lateral sclerosis, or Lou Gehrig’s disease) and frontotemporal dementia.

In the past decade, Dr. Todd has given over 80 invited presentations across the world and published over 50 papers on his research.

Dr. Deborah Hall is an adult neurologist and movement disorder specialist at Rush University Medical Center in Chicago. She has training in genetics, epidemiology, and human subjects research. She conducts research primarily in two areas. Her work in Parkinson’s disease focuses on early interventions, such as neurotrophic factors and exercise, genetics and genomic causes of disease, and treatment for complications including falls. She also researches ataxia, specifically Fragile X-associated disorders, by investigating epidemiology, clinical features of movement and balance, and interventions. She has been National Institutes of Health–funded for the last 10 years as a primary investigator. She has a busy clinical practice focused on movement disorders within the Department of Neurological Sciences at Rush. She is the director of the FXTAS Clinic at Rush and the Movement Disorder DNA Repository within the Section of Movement Disorders at Rush. Dr. Hall received her doctorate from Indiana University and her master’s from the University of Colorado, where she completed her residency and fellowship.

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Additional Resources

We are excited to share information and resources on our website that was referenced during the webinar. We have included the link to additional resources and information below.

• Fragile X – Associated Tremor/Ataxia Syndrome
• Diagnosis and Treatment – FXTAS
• FXTAS with Deborah Hall – Webinar
• FXTAS Resources
• National Ataxia Foundation
  • Products that may be helpful to those living with Ataxia: https://www.ataxia.org/marketplace/