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Cereb Cortex. 2016 May;26(5):2046-58. doi: 10.1093/cercor/bhv026. Epub 2015 Mar 5.

Altered Structural Brain Networks in Tuberous Sclerosis Complex.

Author information

1
Division of Newborn Medicine Fetal Neonatal Neuroimaging and Developmental Science Center.
2
Fetal Neonatal Neuroimaging and Developmental Science Center Department of Radiology.
3
Department of Neurology Computational Radiology Laboratory, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
4
Department of Radiology Computational Radiology Laboratory, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
5
Department of Neurology.
6
Division of Newborn Medicine Fetal Neonatal Neuroimaging and Developmental Science Center Department of Radiology Department of Radiology, Massachusetts General Hospital, Athinoula A. Martinos Center for Biomedical Imaging, Charlestown, MA 02119, USA.

Abstract

Tuberous sclerosis complex (TSC) is characterized by benign hamartomas in multiple organs including the brain and its clinical phenotypes may be associated with abnormal neural connections. We aimed to provide the first detailed findings on disrupted structural brain networks in TSC patients. Structural whole-brain connectivity maps were constructed using structural and diffusion MRI in 20 TSC (age range: 3-24 years) and 20 typically developing (TD; 3-23 years) subjects. We assessed global (short- and long-association and interhemispheric fibers) and regional white matter connectivity, and performed graph theoretical analysis using gyral pattern- and atlas-based node parcellations. Significantly higher mean diffusivity (MD) was shown in TSC patients than in TD controls throughout the whole brain and positively correlated with tuber load severity. A significant increase in MD was mainly influenced by an increase in radial diffusivity. Furthermore, interhemispheric connectivity was particularly reduced in TSC, which leads to increased network segregation within hemispheres. TSC patients with developmental delay (DD) showed significantly higher MD than those without DD primarily in intrahemispheric connections. Our analysis allows non-biased determination of differential white matter involvement, which may provide better measures of "lesion load" and lead to a better understanding of disease mechanisms.

KEYWORDS:

brain networks; developmental delay; diffusion tensor imaging; structural connectivity; tuberous sclerosis complex

PMID:
25750257
PMCID:
PMC4830286
DOI:
10.1093/cercor/bhv026
[Indexed for MEDLINE]
Free PMC Article

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