FXAND: What Is It and What Might It Mean to You?
Research is currently underway looking at various issues that may be seen in people with the premutation.
Here we present a paper by Dr. Randi Hagerman, medical director and developmental pediatrician at the UC Davis MIND Institute in California, is well-known in the worldwide Fragile X community for her pioneering work in Fragile X syndrome (FXS) and Fragile X-associated tremor ataxia syndrome (FXTAS).
For many years, she has believed that carriers of a Fragile X premutation are at risk for a variety of mental health and medical problems due to the premutation itself.
Dr. Hagerman published an article in the scientific journal Frontiers in Psychiatry, titled Fragile X-Associated Neuropsychiatric Disorders (FXAND), one of the first attempts to describe what she and her colleagues believe to be the scientific basis for those problems.
They suggest that the identified toxic effect of the premutation on the brain may underlie these problems. The paper also proposes recognition of the diagnostic term “FXAND” in order to “promote research and the use of fragile X DNA testing to enhance recognition and treatment for these disorders.”
Dr. Hagerman and her team describe anxiety, depression, attention deficit hyperactive disorder (ADHD), chronic pain, fibromyalgia, chronic fatigue, sleep disturbances, and autoimmune problems as potentially related to carrying a Fragile X premutation.
Hagerman, R. J., Protic, D., Rajaratnam, A., Salcedo-Arellano, M. J., Aydin, E. Y., & Schneider, A. (2018). Fragile X-Associated Neuropsychiatric Disorders (FXAND). Frontiers in psychiatry, 9, 564. https://doi.org/10.3389/fpsyt.2018.00564
New Developments in Premutation Research
Dr. Randi Hagerman presented on this topic at the 16th NFXF International Fragile X Conference. The video is available here for your viewing:
In this session, Dr. Hagerman discusses new research in premutation research including:
- MRI changes through the lifespan.
- Occasional occurrences of white matter disease prior to clinical symptoms of FXTAS.
- Clinical correlations of the CGG repeat number and vulnerability of premutation neurons.
- Thoughts about how to stay healthy with the premutation.
- New treatments for FXTAS.
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.