FXTAS

/FXTAS

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.

By | 2018-12-12T11:05:23+00:00 Dec 12, 2018|FXTAS, Hope & Inspiration|Comments Off on Steve and Shirley Kaufman are determined to Stand Up to Fragile X

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 [...]

By | 2018-10-22T10:36:18+00:00 Oct 16, 2018|FXTAS|Comments Off on FXTAS Clinic Directory Now Available

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 [...]

By | 2018-09-05T11:57:35+00:00 Aug 21, 2018|FXTAS, Research|Comments Off on Visiting a FXTAS Researcher

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.

By | 2017-09-21T13:58:33+00:00 Jan 18, 2017|FXTAS|Comments Off on I have FXTAS: Now what?

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.

By | 2016-05-11T11:30:26+00:00 May 11, 2016|FXTAS|Comments Off on FXTAS Caregivers: There is Help!

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

https://youtu.be/1J8-qlI3GBU 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 [...]

By | 2017-07-25T10:59:42+00:00 Apr 28, 2015|FXTAS|Comments Off on Fragile X-associated Tremor/Ataxia Syndrome: Who, What, When, How?

New Test Makes Parkinson's-like Disorder of Middle Age (FXTAS) Detectable in Young Adulthood

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, [...]

By | 2014-04-07T11:54:52+00:00 Apr 7, 2014|FXTAS, News Reports and Commentaries|Comments Off on New Test Makes Parkinson's-like Disorder of Middle Age (FXTAS) Detectable in Young Adulthood

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.

By | 2013-11-20T10:32:30+00:00 Nov 20, 2013|FXTAS, Hope & Inspiration|Comments Off on When “Marriage” Is Spelled F-X-T-A-S

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 [...]

By | 2013-07-30T17:23:55+00:00 Jul 30, 2013|FXTAS|Comments Off on What Do We Know About Cognitive Functioning in FXTAS?

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 [...]

By | 2012-09-19T11:48:00+00:00 Sep 19, 2012|FXTAS, Keeping You Informed|Comments Off on Dr. Peter Todd: Molecule Holds "Significant Promise" but "Still has a long ways to go"