In vivo brain anatomy of adult males with Fragile X syndrome: An MRI study

►We employed magnetic resonance imaging to investigate brain anatomy in 17 adult males with FraX and 18 healthy controls that did not differ significantly in age. Data were analysed using manual (hand) tracing and VBM to compare (respectively) regional brain bulk volume, and localised grey/white matter content. ►Using stereology we found that FraX males had a significant increase in bulk volume bilaterally of the caudate nucleus and parietal lobes and of the right brainstem, but a significant decrease in volume of the left frontal lobe. ►VBM analysis revealed an increased volume of grey matter in fronto-striatal regions (including bilaterally in the caudate nucleus), and increased white matter in regions extending from the brainstem to the left cingulate cortex extending into the corpus callosum. ►People with FraX have regionally specific differences in brain anatomy from healthy controls with enlargement of the caudate nuclei persists into adulthood.