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Genetic Contributions to Changes of Fiber Tracts of Ventral Visual Stream in 22Q11.2 Deletion Syndrome

Institution:
1Psychiatry Neuroimaging Laboratory, Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, USA. zora@bwh.harvard.edu.
2Psychiatry and Neurology Departments, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
3Department of Psychiatry, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.
4Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA.
5Surgical Planning Laboratory, Department of Radiology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA.
6Department of Genetics, Harvard Medical School, Boston, MA, USA.
Publisher:
Springer
Publication Date:
Sep-2013
Journal:
Brain Imaging Behav
Volume Number:
7
Issue Number:
3
Pages:
316-25
Citation:
Brain Imaging Behav. 2013 Sep;7(3):316-25.
PubMed ID:
23612843
PMCID:
PMC3796180
Keywords:
22q11.2 Deletion Syndrome (22q11.2DS), Diffusion Tensor MRI (DT-MRI), Fractional Anisotropy (FA), Axial Diffusivity (AD), Inferior fronto-occipital fasciculus (IFOF), High-risk schizophrenia
Appears in Collections:
PNL, NA-MIC, NAC, SLICER, SPL
Sponsors:
K05 MH070047/MH/NIMH NIH HHS/United States
R01 MH050740/MH/NIMH NIH HHS/United States
R01 MH082918/MH/NIMH NIH HHS/United States
U54 EB005149/EB/NIBIB NIH HHS/United States
P41 RR013218/RR/NCRR NIH HHS/United States
Generated Citation:
Kikinis Z., Makris N., Finn C.T., Bouix S., Lucia D., Coleman M.J., Tworog-Dube E., Kikinis R., Kucherlapati R., Shenton M.E., Kubicki M. Genetic Contributions to Changes of Fiber Tracts of Ventral Visual Stream in 22Q11.2 Deletion Syndrome. Brain Imaging Behav. 2013 Sep;7(3):316-25. PMID: 23612843. PMCID: PMC3796180.
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Patients with 22q11.2 deletion syndrome (22q11.2DS) represent a population at high risk for developing schizophrenia, as well as learning disabilities. Deficits in visuo-spatial memory are thought to underlie some of the cognitive disabilities. Neuronal substrates of visuo-spatial memory include the inferior fronto-occipital fasciculus (IFOF) and the inferior longitudinal fasciculus (ILF), two tracts that comprise the ventral visual stream. Diffusion Tensor Magnetic Resonance Imaging (DT-MRI) is an established method to evaluate white matter (WM) connections in vivo. DT-MRI scans of nine 22q11.2DS young adults and nine matched healthy subjects were acquired. Tractography of the IFOF and the ILF was performed. DT-MRI indices, including Fractional anisotropy (FA, measure of WM changes), axial diffusivity (AD, measure of axonal changes) and radial diffusivity (RD, measure of myelin changes) of each of the tracts and each group were measured and compared. The 22q11.2DS group showed statistically significant reductions of FA in IFOF in the left hemisphere. Additionally, reductions of AD were found in the IFOF and the ILF in both hemispheres. These findings might be the consequence of axonal changes, which is possibly due to fewer, thinner, or less organized fibers. No changes in RD were detected in any of the tracts delineated, which is in contrast to findings in schizophrenia patients where increases in RD are believed to be indicative of demyelination. We conclude that reduced axonal changes may be key to understanding the underlying pathology of WM leading to the visuo-spatial phenotype in 22q11.2DS.

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