Researchers found that the functional connectivity of the cerebellum (a brain area that controls movement accuracy and timing) and the extrastriate cortex (a brain area involved in processing visual information) is reduced in aging FMR1 premutation carriers. This suggests that communication between visual processing regions in the brain and the cerebellum, a brain region critical for monitoring and adjusting movements so that they are accurate, is disrupted during aging in FMR1 premutation carriers and may be an early indicator of FXTAS.
Why This Matters
Researchers have struggled to find biomarkers to indicate who might develop FXTAS and who is showing early signs of neurodegeneration before the emergence of clear clinical concerns. These findings meant that functional connectivity between the cerebellum and extrastriate cortex could serve as a biomarker for FXTAS. This potential biomarker could help researchers and clinicians better predict which premutation carriers may develop FXTAS before they experience the tell-tale symptoms (e.g., kinetic tremor, gait issues).
Researchers will need to follow these participants over time to see if these functional connectivity differences are in fact a biomarker or an early indicator for FXTAS. More research using sensorimotor tasks and connectivity measurements is needed to further understand this potential biomarker.