Fragile X-associated Tremor/Ataxia Syndrome — Webinar
Drs. Deborah Hall and Peter Todd joined us for an informative webinar on the topic of Fragile X-associated Tremor/Ataxia syndrome (FXTAS).
Neuropsychological Changes in FMR1 Premutation Carriers and Onset of FXTAS
This is the first time that Fragile X premutation carriers have been tracked in a longitudinal study. This study provides evidence for early markers of FXTAS that may be helpful in eventually identifying the best candidates for early, preventive intervention.
The International Fragile X Premutation Registry: Building a Resource for Research and Clinical Trial Readiness
The first published publication from the International Fragile X Premutation Registry Advisory Committee. This International Fragile X Premutation Registry is an important first step and can serve as a useful tool for clinicians and researchers in the field.
Validation of Fragile X-Associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS)
Rush University is conducting a research study to validate a rating scale created to assess the motor symptoms of people with FXTAS – the “Fragile X-Associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS)”
Growing Awareness of Fragile X-Associated Conditions
On May 5, 2022, The Wall Street Journal Weekend Edition showcased an article called “The Surprising Legacy of a Genetic Disorder” by Dr. Anne Skomorowsky. The essay summarizes the history of Fragile X and [...]
The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations
Thanks to The European Fragile X Network, FMR1 now stands for fragile X messenger ribonucleoprotein 1, removing the reference to “mental retardation” which has long been outdated in common vernacular.
Optimal Time Lags From Causal Prediction Model Help Stratify and Forecast Nervous System Pathology
Being able to identify and diagnose possible nervous system disorders by detecting gait problems 15 to 20 years before their clinical diagnosis could help advance treatment development and quality of life.
Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in FXTAS
This system could potentially predict FXTAS onset in premutation carriers who are not showing signs of FXTAS on a neurological exam.
Fragile X Info Series: Fragile X-Associated Tremor/Ataxia Syndrome
Fragile X Info Series Fragile X-Associated Tremor/Ataxia Syndrome Statistics, onset, progression, diagnosis, and interventions and treatments for FXTAS, an adult-onset neurological condition, seen primarily in males. ENGLISH [...]
Cerebellar-Cortical Function and Connectivity during Sensorimotor Behavior in Aging FMR1 Gene Premutation Carriers
RESEARCH RESULTS ROUNDUP — Investigation into how aging as a premutation carrier of the FMR1 gene may affect sensorimotor (exactly as it sounds, both sensory and motor) brain systems.
Genetic Counseling
The Who, What & How for Genetic CounselingWho Should Seek Out a Genetic Counselor?Anyone who has:Been identified as being a “Fragile X carrier” or has positive, inconclusive, or in any way unusual Fragile X testing [...]
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Consensus Document
Consensus of the Fragile X Clinical & Research Consortium Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Reading Time: 21 min.—|—Last Updated: June 2021—|—First Published: March 2018—|—English PDF—|—Spanish PDF Introduction TABLE 1. [...]
Emory Study: Men With the FXTAS Premutation
The Modifiers of Fragile X-Associated Disorders (FX-MOD) study is trying to answer the question, why do some people develop tremor and balance issues and others do not?
Fragile X Premutation Issues Front and Center on the World Stage
Pictured Above: Fragile X professionals from around the world taking a mud bath, and making the sign of the X, prior to a swim in the Dead Sea, the lowest point on earth at 1,388 [...]
Planning Your Visit to a Fragile X Clinic
Why should you visit a Fragile X clinic? Because you won’t hear, “Fragile what?” You will have the opportunity to meet with a team of people who will be able to provide guidance in many [...]