Funding agencies: This study was supported by the A-T Children's Project (USA) and BrAshA-T (Australia).
Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients
Article first published online: 17 JUL 2014
© 2014 International Parkinson and Movement Disorder Society
Volume 29, Issue 10, pages 1289–1298, September 2014
How to Cite
Sahama, I., Sinclair, K., Fiori, S., Pannek, K., Lavin, M. and Rose, S. (2014), Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients. Mov. Disord., 29: 1289–1298. doi: 10.1002/mds.25970
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 10 SEP 2014
- Article first published online: 17 JUL 2014
- Manuscript Accepted: 16 JUN 2014
- Manuscript Revised: 15 MAY 2014
- Manuscript Received: 28 JAN 2014
- ataxia telangiectasia;
- diffusion magnetic resonance imaging;
- tract-based spatial statistics;
- voxel-based morphometry
Magnetic resonance imaging (MRI) research in identifying altered brain structure and function in ataxia-telangiectasia, an autosomal recessive neurodegenerative disorder, is limited. Diffusion-weighted MRI were obtained from 11 ataxia telangiectasia patients (age range, 7-22 years; mean, 12 years) and 11 typically developing age-matched participants (age range, 8-23 years; mean, 13 years). Gray matter volume alterations in patients were compared with those of healthy controls using voxel-based morphometry, whereas tract-based spatial statistics was employed to elucidate white matter microstructure differences between groups. White matter microstructure was probed using quantitative fractional anisotropy and mean diffusivity measures. Reduced gray matter volume in both cerebellar hemispheres and in the precentral-postcentral gyrus in the left cerebral hemisphere was observed in ataxia telangiectasia patients compared with controls (P < 0.05, corrected for multiple comparisons). A significant reduction in fractional anisotropy in the cerebellar hemispheres, anterior/posterior horns of the medulla, cerebral peduncles, and internal capsule white matter, particularly in the left posterior limb of the internal capsule and corona radiata in the left cerebral hemisphere, was observed in patients compared with controls (P < 0.05). Mean diffusivity differences were observed within the left cerebellar hemisphere and the white matter of the superior lobule of the right cerebellar hemisphere (P < 0.05). Cerebellum-localized gray matter changes are seen in young ataxia telangiectasia patients along with white matter tract degeneration projecting from the cerebellum into corticomotor regions. The lack of cortical involvement may reflect early-stage white matter motor pathway degeneration within young patients. © 2014 International Parkinson and Movement Disorder Society