Dr. Michelle Tosin, a 2022 NFXF Junior Investigator, summarizes the Diagnosis and Treatment of Fragile X-associated Tremor Ataxia Syndrome session at the 18th International Fragile X Conference.
Fragile X is one of the more complicated conditions to explain, so we are sharing 7 basic facts about the biology and genetics of Fragile X
In this conference session, Dr. Deborah Hall provides a clinical overview of the diagnosis and treatment of FXTAS, including a summary of its clinical features, treatment options, and information about in-vitro fertilization.
Explore this premutation webinar to learn more about Fragile X and Associated Tremor/Ataxia Syndrome (FXTAS) with our expert panel: Peter K. Todd, MD, Randi J. Hagerman, MD, David Hessl, PhD, and Dr. Deborah A. Hall, MD.
Experts Deborah Hall, Maureen Leehey, Peter Todd, and Nancy Hertzig discuss the latest in FXTAS research and treatment.
Neurologists Drs. Deborah Hall and Maureen Leehey provide an overview of FXTAS, a summary of the clinical features in the disease, and treatment options, including surgery, for FXTAS patients.
Steve was diagnosed with FXTAS 8 years ago, and since then, he and his family have provided significant financial support to FXTAS programming at the NFXF. They are supporting our goal to build a worldwide consortium of FXTAS clinics to help improve the rate of diagnosis and the delivery of current treatments. This will also set us up to be ready to conduct future clinical trials for new treatments.
Looking for a FXTAS clinic? A directory of clinics around the world is now available here. All of the clinics are part of the International FXTAS Consortium (IFC). The IFC was co-founded in 2017 by [...]
On July 28, 1028, the University of Central Florida College of Medicine hosted an open house for families affected by Fragile X-associated tremor and ataxia syndrome (FXTAS) to highlight their research. Missy Zolecki, NFXF [...]
FXTAS is a chronic disease. If FXTAS patients maintain good general health and do not have other medical problems, many can have fulfilling lives for years after diagnosis. Regular visits to a neurologist, high levels of physical activity, and the use of other therapies and resources are key to sustaining a good quality of life.
Family caregivers play a critical role in managing the needs of individuals with FXTAS throughout the course of the illness. People with FXTAS rely on caregivers for a wide range of support—preparation of meals, household chores, transportation, medications, bathing, dressing, feeding, physical, emotional and social care, and managing family money.
When children with FXS enter the relationship, married couples must adapt to their new roles while trying to stay connected as lovers and partners. Diane Smith gives us some pointers.
Dr. Randi Hagerman gave this plenary talk regarding premutation involvement in women, but the FXTAS information here is equally important in men.
The very earliest signs of a debilitating neurodegenerative disorder, in which physical symptoms are not apparent until the fifth decade of life, are detectable in individuals as young as 30 years old using a new, [...]
My whole marriage to my husband Vince can be described by one acronym: FXTAS. Our wedding was in April 1999. It was a second marriage for us both, and we weren’t youngsters (I was 48 and Vince was 64), but I thought we were both healthy. We had no inkling that Vince’s mind was already deteriorating from FXTAS.
