Diagnosis and Treatment of Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) (original) (raw)
Conference Presentation
Fragile X-associated tremor/ataxia syndrome (FXTAS) can occur in men and women with the FX premutation when they are over the age of 55. It’s associated with tremors, balance problems, and other neurological signs. This webinar provides an overview of the diagnosis and treatment of FXTAS, including a summary of its clinical features, treatment options, and information about in-vitro fertilization with pre-implantation genetic testing on their embryos if they do not want to pass on the mutation to a child.
With Dr. Deborah Hall
Learn more about the presenters
Patients, caregivers, junior researchers, and others may benefit from the material in this presentation from neurologist Dr. Deborah Hall, neurologist and professor at the Rush Medical College Department of Neurological Sciences. Dr. Hall has treated FXTAS patients over the last two decades. This presentation was recorded on July 22, 2022, at the 18th International Fragile X Conference.
Also, read an in-depth summary of this presentation by 2022 NFXF Junior Investigator Dr. Michelle Tosin.
About the Speaker
Deborah Hall
Deborah Hall, MD, PhD, 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.