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.
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.
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.
Dr. Randi Hagerman gave a plenary talk at the 14th International Fragile X Conference in the summer of 2014 regarding premutation involvement in women, although what she said is equally important in men (except [...]
It has been nearly 15 years since Fragile X-associated tremor/ataxia syndrome (FXTAS) was first discovered and described. In that time, our understanding of the disease has increased rapidly. The reason [...]
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.
Since its identification less than a decade ago, researchers have learned a good deal about Fragile X-associated tremor/ataxia syndrome (FXTAS). Not surprisingly, each advance has raised a set of new questions. Progress seems to come [...]
Basic Mechanisms and Clinical Involvement The NFXF was one of multiple co-sponsors of this important gathering organized by Drs. Flora Tassone and Paul Hagerman of the UC Davis School of Medicine and MIND Institute. Executive [...]
The NFXF was excited to read this announcement from the University of Michigan Health System. There are a number of dedicated scientists and clinicians working on FXTAS, however new treatments have been slower in coming than for Fragile X syndrome.
Dr. Peter Todd, assistant professor in Neurology and co-director of the FX clinic at the University of Michigan thinks the study findings hold significant promise. “This is an interesting finding of a compound that has [...]