Category: FXTAS

I have FXTAS: Now what?

by NFXF

  • Posted on January 18, 2017

  • FXTAS

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.



FXTAS Caregivers: There is Help!

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.



Married…With (Fragile X) Children

One of the most prevailing fears for a couple when their child has a disability is that their marriage will be affected; perhaps it will likely end. In fact, one of the things couples are told is 80% of them will be divorced because of the child. This is a statistic that has been debunked



Fragile X-associated Tremor/Ataxia Syndrome: Who, What, When, How?

by NFXF

  • Posted on April 28, 2015

  • FXTAS

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 field has moved so quickly is due to the amount of gene testing done in families with Fragile X, which identifies premutation carriers at



When “Marriage” Is Spelled F-X-T-A-S

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.



What Do We Know About Cognitive Functioning in 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 very slowly, but the issues are complex, and we have much to learn about FXTAS. Much of the research to



Report on the 1st International Conference on the FMR1 Premutation

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 Director Robert Miller attended as one of the few non-scientists so that he could report back to you in a



New Research Leads to Better Understanding of FXTAS

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: Molecule Holds "Significant Promise" but "Still has a long ways to go"

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 therapeutic potential in FXTAS. The approach taken by this group to identify small molecule inhibitors of CGG RNA toxicity is