White matter tract alterations in fragile X syndrome: Preliminary evidence from diffusion tensor imaging
Article first published online: 6 JAN 2003
Copyright © 2003 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 118B, Issue 1, pages 81–88, 1 April 2003
How to Cite
Barnea-Goraly, N., Eliez, S., Hedeus, M., Menon, V., White, C. D., Moseley, M. and Reiss, A. L. (2003), White matter tract alterations in fragile X syndrome: Preliminary evidence from diffusion tensor imaging. Am. J. Med. Genet., 118B: 81–88. doi: 10.1002/ajmg.b.10035
- Issue published online: 27 FEB 2003
- Article first published online: 6 JAN 2003
- Manuscript Accepted: 4 SEP 2002
- Manuscript Received: 17 MAY 2002
- NIH. Grant Numbers: MH01142, HD31715, MH50047
- The Packard Foundation
- The Sinclair Fund
- The Lynda and Scott Canel Fund for Fragile X Research
Fragile X syndrome, the most common form of hereditary mental retardation, causes disruption in the development of dendrites and synapses, the targets for axonal growth in the central nervous system. This disruption could potentially affect the development, wiring, and targeting of axons. The current study utilized diffusion tensor imaging (DTI) to investigate whether white matter tract integrity and connectivity are altered in fragile X syndrome. Ten females with a diagnosis of fragile X syndrome and ten, age matched, female control subjects underwent diffusion weighted MRI scans. A whole brain analysis of fractional anisotropy (FA) values was performed using statistical parametric mapping (SPM). A follow-up, regions-of-interest analysis also was conducted. Relative to controls, females with fragile X exhibited lower FA values in white matter in fronto-striatal pathways, as well as in parietal sensory-motor tracts. This preliminary study suggests that regionally specific alterations of white matter integrity occur in females with fragile X. Aberrant white matter connectivity in these regions is consistent with the profile of cognitive and behavioral features of fragile X syndrome, and potentially provide additional insight into the detrimental effects of suboptimal levels of FMRP in the developing brain. © 2003 Wiley-Liss, Inc.