Fragile X Premutation Panel Discussion
Panelists Drs. David Hessl, Emily Allen, Deborah Hall and Randi Hagerman share their expertise on the Fragile X premutation at the 18th International Fragile X Conference.
7 Things You Didnʼt Learn About Fragile X in Biology Class
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
Premutation Concerns — Presentation
Dr. Randi Hagerman discusses all of the Fragile X-associated conditions and disorders and provides strategies for some of their characteristics.
Diagnosis and Treatment of Fragile X-Associated Tremor Ataxia Syndrome — Webinar
This webinar 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.
Advancing Our Understanding and Future Treatment of FXTAS Panel Discussion
Experts Deborah Hall, Maureen Leehey, Peter Todd, and Nancy Hertzig discuss the latest in FXTAS research and treatment.
Premutation Carrier Concerns Panel Discussion
Panelists Randi Hagerman, Heather Hipp, Emily Allen, and Marsha Mailick helps answer what it means for your health, your family, and your future at the 17th International Fragile X Conference.
Premutation Disorders & Conditions — Webinar
Dr. Randi Hagerman joins us to discuss the latest information and research on premutation carriers. The recording includes the Q&A session following her presentation.
The Genetics of Fragile X Disorders
Many thanks to Brenda Finucane for this webinar to help each of us understand the genetics of Fragile X.
Health Concerns for Women Who Carry an FMR1 Premutation — Webinar
Emily Allen discusses some of the health concerns of women who are premutation carriers and shares research findings from her group at Emory University.
Fragile X-Associated Tremor/Ataxia Syndrome 101 — Webinar
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.
Reproductive and Gynecologic Care for Women with the Fragile X Premutation — Webinar
Care for women with FXPOI who struggle with infertility and the health effects of early onset ovarian insufficiency, including hot flushes, night sweats, and risks of osteoporosis.
Steve and Shirley Kaufman are determined to Stand Up to Fragile X
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.
FXTAS Clinic Directory Now Available
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 [...]
Visiting a FXTAS Researcher
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 Central [...]
I have FXTAS: Now what?
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a disorder that affects Fragile X premutation carriers, typically over the age of 55. Individuals with FXTAS have tremor of their hands when they are using their hands to do activities. They also have difficulty with their walking, appearing as if they were drunk even though they are sober. As the disease progresses over time, people with FXTAS can develop problems with memory and loss of sensation in the feet. Symptoms are highly variable, with some FXTAS patients having more severe tremor and others having more balance issues. Women tend to be more mildly affected, if they are affected at all, due to the typical presence of a normal Fragile X gene on their second chromosome.