The Fragile X Premutation
Traditionally, a carrier of a genetic condition is defined as a person who inherits an altered form of a gene but is asymptomatic or not at risk for nor has symptoms of the condition. However, in Fragile X this is different. Individuals with the Fragile X premutation may be at risk to develop Fragile X-associated conditions and disorders including Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI). Additional conditions associated with the Fragile X premutation are being further researched.
Health & the Fragile X Premutation
We have two ebooks available from the Emory University School of Medicine. They include information on the health concerns that men and women with the Fragile X premutation need to be aware of, including genetics and inheritance, FXPOI, FXTAS, family planning, and more.
Webinars
I Have the Fragile X Premutation…Now What?— Webinar
Drs. Deborah Barbouth, Emily Allen, Reymundo Lozano, and David Hessl joined us for a one-hour Q & A discussing the Fragile X Premutation.
Premutation Concerns — Presentation
Dr. Randi Hagerman discusses all of the Fragile X-associated conditions and disorders and provides strategies for some of their characteristics.
One Fragile X Experience: Carrier & Mom Answers FAQs — Video
Ilana Garber, a Fragile X carrier and mother of a child with Fragile X syndrome, shares her experience with Fragile X and offers her perspective to people interested in testing for themselves or their child.
Health Concerns for Women Who Carry an FMR1 Premutation — Presentation
This presentation explores health conditions for women who carry an FMR1 premutation for Fragile X syndrome. Presented by Emily Allen, PhD.
Fragile X Premutation Discussion — Panel
Panelists Drs. David Hessl, Emily Allen, Deborah Hall and Randi Hagerman share their expertise on the Fragile X premutation at the 18th International Fragile X Conference.
Using Mindfulness and Acceptance Techniques to Reduce Stress — Webinar
Dr. Anne Wheeler provides an overview of stress vulnerability in women with (and without) a premutation, and how mindfulness-based techniques can be helpful for increasing mindfulness, reducing stress, and improving overall well-being.
The Genetics of Fragile X Disorders
Many thanks to Brenda Finucane for this webinar to help each of us understand the genetics of Fragile X. Brenda is a professor and licensed genetic counselor at Geisinger’s Autism and Developmental Medicine Institute in Lewisburg, PA.
Health Concerns for Women Who Carry an FMR1 Premutation — Presentation
Emily Allen discusses some of the health concerns of women who are premutation carriers and shares research findings from her group at Emory University.
Premutation Carrier Concerns — Panel
Panelists Randi Hagerman, Heather Hipp, Emily Allen, and Marsha Mailick helps answer what it means for your health, your family, and your future at the 17th International Fragile X Conference.
Reproductive and Gynecologic Care for Women with the Fragile X Premutation — Presentation
Care for women with FXPOI who struggle with infertility and the health effects of early onset ovarian insufficiency, including hot flushes, night sweats, and risks of osteoporosis. With Heather Hipp, Jennifer Barber, and Keiko Mathewson.
Women’s Health & the Fragile X Premutation
Download the 29-page ebook for information on the health concerns women with the Fragile X premutation need to be aware of, including genetics and inheritance, FXPOI, FXTAS, family planning, and more.
From Our Blog
Summary of the publication, Insight and Recommendations for Fragile X Premutation Associated Conditions from the 5th International Conference on FMR1 Premutation
This summary gives a broad overview of the main themes discussed at the 5th International Conference on FMR1 Premutation in early 2023.
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 [...]
What Defines a Carrier?
Why is there so much variability among male and female Fragile X carriers? There are a number of factors involved. Because the Fragile X gene is X-linked, gender plays a big role in determining who might show symptoms. Male premutation carriers, because they have only one X chromosome, are much more commonly affected by FXTAS than are female carriers.
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, and 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, Dr. Hagerman 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. This paper is one of her first attempts to describe what she and her colleagues believe to be the scientific basis for those problems.
Read Fragile X-Associated Neuropsychiatric Disorders (FXAND).
Research Results
Study: Mechanisms and biomarkers of disease progression in Fragile X-associated tremor/ataxia syndrome (FXTAS)
The University of Kansas BRAIN Lab is conducting a research study to learn about behavioral and brain differences associated with the Fragile X premutation. Males and females ages 50-80 living with the Fragile X premutation, with or without FXTAS, may be eligible to participate. The study includes remote & in-person visits at the University of Kansas.
Healthcare Experiences of African American Women with a Fragile X Premutation
Authors: Andy King, Nadia Ali, Cecelia Bellcross, Fabienne Ehivet, Heather Hipp, Jessica Vaughn, Emily G. Allen An estimated 1 in 291 women carry a Fragile X premutation (PM) and there is little evidence that [...]
Summary of the Fragile X Syndrome Basic Science Research session at the NFXF’s 18th International Fragile X Conference
Dr. Anubhuti Goel summarizes the Fragile X Syndrome Basic Science Research session at the NFXF's 18th International Fragile X Conference.
Summary of the Fragile X Premutation Basic Science Research Session at the NFXF 18th International Fragile X Conference
Dr. Carolyn Yrigollen summarizes the Fragile X Premutation Basic Science Research session at the NFXF's 18th International Fragile X Conference.
Study: Language, executive function, and quality of life of those with the Fragile X premutation
Researchers at the Waisman Center at UW-Madison are recruiting adults with the Fragile X premutation for a study on language, executive function, and quality of life.
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.
FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers
Researchers at the University of Wisconsin looked at the relationship and influence of FMR1 CGG repeats and stress on self-reported cognitive functioning in mothers.
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.
Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation
Data from 8 unique studies speaks to the necessity of early identification of FXS, which leads to earlier, effective medical and non-medical interventions.
Cortical Gyrification and Its Relationships With Molecular Measures and Cognition in Children With the FMR1 Premutation
Jun Yi Wang and the study team out of the UC Davis MIND Institute are interested in learning more about the premutation carrier condition in relations to brain development and its impact on cognition. These mental processes impact the higher-level functions of the brain including language, learning new things, and making decisions.
Clustering of Comorbid Conditions Among Women Who Carry an FMR1 Premutation
RESEARCH RESULTS ROUNDUP — The authors sought to clarify how often other health-related conditions, such as migraines and sleep problems, occur among women with a premutation.
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.
Inhibition Deficits Are Modulated by Age and CGG Repeat Length in Carriers of the FMR1 Premutation Allele Who Are Mothers of Children with Fragile X Syndrome
RESEARCH RESULTS ROUNDUP — Older mothers of children with Fragile X syndrome who have mid-range CGG repeats (~80–100) may be at increased risk for difficulties with inhibition.
Fragile X Premutation Carrier Study at University of Kansas
The University of Kansas BRAIN Lab is conducting a research study to learn about behavioral and brain differences associated with the Fragile X premutation. Females with the premutation ages 55–80 may be eligible to participate.
General Anesthetic Use in Fragile X Spectrum Disorders
This is a topic we get a lot of questions about. This paper reports on two cases of premutation carriers with FXTAS who have experienced progression of their motor or cognitive problems after general anesthesia. Because of their molecular profile, it’s suggested that this group of patients may be at high risk for central nervous system dysfunction after anesthesia.
More
An introduction to premutation carriers, prevalence, and issues for males and females.
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.