FXTAS Resources
The Fragile X-associated disorder, Fragile X-associated tremor/ataxia syndrome, known more commonly as FXTAS (fax-tass) can occur in individuals with the Fragile X premutation. FXTAS is an adult-onset neurodegenerative disorder, more common in males than females over 50 years of age with the Fragile X premutation. FXTAS is associated with tremors, balance problems, and other neurological signs. FXTAS progresses at varying rates in different individuals.
Clinics Specializing in the Treatment of FXTAS
FXTAS clinics are comprised of doctors (primarily neurologists and movement disorder specialists), therapists, researchers, and other specialists who treat FXTAS by utilizing the best available scientific knowledge about the known causes of FXTAS. While there is currently no cure for FXTAS, specialists may be able to lessen the severity and/or slow the progression of symptoms.
From Our Info Series
FXTAS is an inherited neurodegenerative disorder that typically affects adults over 50 years old and is associated with a spectrum of neurological and medical symptoms.
Browse our other available Info Series flyers designed to be easily printable on your home or office printer.
Treatment Recommendations
The goal of therapy for FXTAS is to reduce symptoms and eventually slow the progression of the disease. Management of FXTAS is complex and involves appropriate follow-up by an adult neurologist. It is also important to evaluate other potential causes of dementia such as vitamin B12 deficiency, folate deficiency, and depression.
Webinars
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).
Summary of the Diagnosis and Treatment of Fragile X-associated Tremor Ataxia Syndrome Session at the 18th International Fragile X Conference
Dr. Michelle Tosin, a 2022 NFXF Junior Investigator, summarizes the Diagnosis and Treatment of Fragile X-associated Tremor Ataxia Syndrome session at the 18th International Fragile X Conference.
Diagnosis and Treatment of Fragile X-Associated Tremor Ataxia Syndrome — Presentation
In this conference session, Dr. Deborah Hall 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.
Panel Discussion – Fragile X – Associated Tremor Ataxia Syndrome (FXTAS) — Panel
Explore this premutation webinar to learn more about Fragile X and Associated Tremor/Ataxia Syndrome (FXTAS).
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.
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.
Research Results
DOD grant awarded for a FXTAS trial
PureTech Health has been awarded a DOD grant of up to $11.4 million from the DOD for their trial of LYT-300, oral formulation of allopregnanolone, in people with Fragile X-associated tremor/ataxia syndrome (FXTAS).
Summary of the Diagnosis and Treatment of Fragile X-associated Tremor Ataxia Syndrome Session at the 18th International Fragile X Conference
Dr. Michelle Tosin, a 2022 NFXF Junior Investigator, summarizes the Diagnosis and Treatment of Fragile X-associated Tremor Ataxia Syndrome session at the 18th International Fragile X Conference.
The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women
Researchers at the University of Wisconsin explored the relationship between obtaining a college degree and the manifestation of the neurodegenerative symptoms of FXTAS among women at elevated genetic risk.
Fragile X-associated tremor/ataxia syndrome rating scale: Revision and content validity using a mixed method approach
Researchers across several institutions set out to develop a revised version of the FXTAS-RS designed to specifically assess FXTAS motor signs.
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.
Interpreting Clinical Trial Headlines and Announcements in Fragile X Syndrome — Webinar
Explore examples of recent announcements and headlines focused on treatment development in Fragile X syndrome.
More Resources
Watch: Premutation Disorders & Conditions With Dr. Randi Hagerman
Dr. Randi Hagerman discusses Fragile X-associated conditions and disorders, including FXTAS, and provides strategies for some of their characteristics.
FXTAS 101
An introduction to FXTAS, an “adult-onset” neurodegenerative disorder, usually affecting males over 50 years of age. Females comprise only a small part of the FXTAS population, and their symptoms tend to be less severe. FXTAS affects the neurologic system and progresses at varying rates in different individuals.
Be a part of the solution.
Learn more about the INTERNATIONAL FRAGILE X PREMUTATION REGISTRY and join individuals with the premutation and their families to help advance — and encourage — deeper understanding and research into the premutation condition.
Be a part of the solution.
Learn more about the International Fragile X Premutation Registry and join individuals with the premutation and their families to help advance — and encourage — deeper understanding and research into the premutation condition.