Discover Fragile X

Fragile X
syndrome
(FXS)

Fragile X-associated
Tremor Ataxia syndrome (FXTAS)

Fragile X-associated
Primary Ovarian Insufficiency (FXPOI)

Fragile X-associated
Neuropsychiatric Disorders (FXAND)

What Fragile X Means to Us

Understanding Fragile X: Voices from the Community

Fragile X touches lives in countless ways, and understanding its impact requires seeing it through diverse perspectives. In this section, parents, researchers, coaches, and others share their unique experiences and insights, offering a rich and multidimensional view of Fragile X. By exploring these varied lenses, we can deepen our collective understanding and appreciation of the many ways Fragile X is lived, studied, and supported.

What is Fragile X?

A PARENT’S PERSPECTIVE

When I first heard the words ‘Fragile X Syndrome’ I had no idea what they meant, we did not know it ran in our family. The doctors talked about genes, mutations, and something called trinucleotide repeats, which sounded like a foreign language. This time in our journey was very overwhelming.

But what I’ve come to understand is this…

My child has Fragile X syndrome. Due a change in one of his genes his body has stoped making enough of specific protein, one that helps the brain grow and develop. Without this protein, my son faces many challenges, especially when it comes to learning or communicating his needs. It’s not always easy, but knowing this helps me better understand why he struggles and how we can support him. At first, it felt isolating, but as I’ve connected with other families and learned more, I realize we’re not alone in this journey. There are many of us walking the same path, and while the challenges are real, so are the strength and love we find along the way.

What is Fragile X?

A RESEARCHER’S PERSPECTIVE

From the point of view of a neuroscientist conducting basic research, Fragile X Syndrome (FXS) represents a genetic disorder that prevents expression of a single class of protein that ultimately disrupts cognitive function and promotes autism spectrum disorders. The simplicity of the underlying cause but complexity of symptoms that arise provide scientists an opportunity to understand the molecular basis of brain circuit function. In fact, an enormous amount of work since the early 1990s has revealed how the loss of Fragile X Messenger Ribonucleoprotein (FMRP) promotes widespread disruption of protein translation and multiple aspects of circuit function in the brain.

Basic science work is typically carried out using a mouse model of FXS that shares many aspects of circuit dysfunction and even behavioral traits with that of FXS subjects. Many investigators have moved this work to human FXS stem cells and derived neurons maintained in cell culture conditions. The most important scientific questions to answer often require work on detailed aspects of molecular biology or physiology that could seem far removed from a translational outcome. Yet the knowledge base provided by this work has now advanced to the point of identifying means to use pharmacology to reduce symptoms in FXS subjects, reinstate FMRP expression in cultured human FXS cells or behaving animals, or replace a portion of the FMRP protein in animals.  As a basic scientist, Fragile X Canada has helped me engage in the larger Fragile X community and see the human side of FXS. Having opportunities to meet parents and hear of the hope that is inspired by our work fuels the drive to push our research towards a clinical outcome by identifying solutions to reduce the symptoms or even reverse this disorder. The work by Fragile X Canada to connect FXS researchers across Canada has already fostered collaborations that will drive new discoveries and boost the advances that are made every day in Canadian labs.

Ray W Turner

Professor, Dept. Clinical Neuroscience
Hotchkiss Brain Institute, Alberta Children’s Hospital Research Institute
Cumming School of Medicine
University of Calgary

Stay tuned for more perspectives

Understanding Fragile X

Fragile X-associated Conditions are a family of inherited conditions caused by alterations (expansions) in the FMR1 gene (Fragile X gene) which is located on the X chromosome. These conditions include a wide range of physical, intellectual and behavioural symptoms that can affect family members in different ways.

It is estimated that more than 100,000 people in Canada are impacted by Fragile X in some way, as carriers of Fragile X, or with Fragile X syndrome.

Fragile X syndrome

Fragile X syndrome is the leading cause of inherited intellectual disability, affecting about 1 in 4,000 males and about 1 in 6,000 females.

Both males and females can be carriers of the Fragile X gene alteration, and are called premutation carriers. About 1 in 250 women and 1 in 800 men are Fragile X premutation carriers.

Conditions associated with being Fragile X Premutation Carriers:

Fragile X-associated Tremor Ataxia syndrome (FXTAS): A neurological condition with symptoms including shaking (intention tremor), unsteadiness (ataxia) and memory problems. FXTAS is often misdiagnosed as Parkinson’s disease

Fragile X-associated Primary Ovarian Insufficiency (FXPOI): Which can lead to fertility problems and early menopause

Fragile X-associated Neuropsychiatric Disorders (FXAND): A term to describe a range of physical and psychological issues some carriers may experience