Why did we do this study?
People with the genetic FMR1 premutation may develop in later life a condition called the fragile X-associated tremor/ataxia syndrome (FXTAS). This condition involves progressive symptoms of shakiness, loss of coordination, and learning and memory problems. At the moment, the FXTAS condition can only be diagnosed once the symptoms are visible. At present, we don’t know whether brain changes could be detected before the onset of the symptoms. If we could identify specific brain changes before the symptoms appear, we would be able to diagnose FXTAS and provide support earlier. With this study, we wanted to find and better recognise these brain changes appearing before the onset of the symptoms.
What did we do?
We recruited 17 FMR1 premutation carrier participants without FXTAS and 17 control participants of similar ages, with an age range of 20 to 70 years old. Participants gave a blood sample (to measure the FMR1 genetic information), and they completed several cognitive and behavioural tasks. They also completed a movement task during an fMRI scan, to look at the activity of the brain when tapping their fingers.
What did we find?
When taping their fingers in a predetermined sequence, FMR1 premutation carriers had lower brain activation in brain regions that regulate motor control, compared to when taping their fingers randomly. This finding means that the FMR1 premutation is linked with changes in the way the brain coordinates movement.
We found that the brain activity of FMR1 premutation carriers changes as they grow older. This finding is the first step to better understand how FMR1 premutation carriers can develop FXTAS later in life.
Outputs
The findings have been published in a peer-reviewed journal, and are available at:
Fragile X premutation carriers: A systematic review of neuroimaging findings.
Age-related functional brain changes in FMR1 premutation carriers.
You can read more about this article on this page.
Who conducted and funded the project?
The study was conducted by Stephanie Brown (PhD student), under the supervision of Heather Whalley, Peter Kind, and Andrew Stanfield, and with the help of Shinjini Basub. The study was funded by the Patrick Wild Centre, RS MacDonald Trust and the Helen Maud Garfit Fund.
