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Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study

Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study

Authors :
Carrie E. Bearden
Geor Bakker
Jennifer K. Forsyth
Laura Hansen
Naomi J. Goodrich-Hunsaker
David Edmund Johannes Linden
Eileen Daly
Neda Jahanshad
Wanda Fremont
Conor K. Corbin
Maria Jalbrzikowski
Tony J. Simon
Amy Lin
Marianne Bernadette van den Bree
David R. Roalf
Xiaoping Qu
Kevin M. Antshel
Donna M. McDonald-McGinn
Courtney A. Durdle
Jacob A. S. Vorstman
Raquel E. Gur
Declan G. Murphy
Leila Kushan
Therese van Amelsvoort
Clodagh M. Murphy
Beverly S. Emanuel
Kathryn McCabe
Rachel K. Jonas
Kenia Martínez
J. Eric Schmitt
Christopher R.K. Ching
Hayley Moss
Daqiang Sun
Gary Donohoe
Maria Gudbrandsen
Talia M. Nir
C. Arango
Ariana Vajdi
Sinead Kelly
Julio E. Villalon-Reina
Wendy R. Kates
Kosha Ruparel
Joanne L. Doherty
Michael John Owen
Sanne Koops
Kieran C. Murphy
Michael C. Craig
Ania Fiksinski
Linda E. Campbell
Adam C. Cunningham
Paul M. Thompson
Deydeep Kothapalli
Psychiatrie & Neuropsychologie
MUMC+: MA Med Staf Spec Psychiatrie (9)
RS: MHeNs - R2 - Mental Health
Source :
Molecular psychiatry, vol 25, iss 11, Villalon-Reina, J E, Martínez, K, Qu, X, Ching, C R K, Nir, T, Kothapalli, D, Corbin, C, Sun, D, Lin, A, Forsyth, J K, Kushan, L, Vajdi, A, Jalbrzikowski, M, Hansen, L, Jonas, R K, Van Amelsvoort, T, Bakker, G, Kates, W R, Antshel, K M, Fremont, W, Campbell, L E, McCabe, K L, Gudbrandsen, C M, Daly, E M, Gudbrandsen, C M, Murphy, C, Murphy, D G, Craig, M, Emanuel, B S, McDonald-McGinn, D M, Vorstman, J A S, Fiksinski, A, Koops, S, Ruparel, K, Roalf, D R, Gur, R E, Schmitt, J E, Simon, T J, Goodrich-hunsaker, N J, Durdle, C A, Doherty, J, Cunningham, A C, van den Bree, M, Linden, D E J, Owen, M J, Moss, H, Kelly, S, Donohoe, G, Murphy, K C, Arango, C, Jahanshad, N, Thompson, P M & Bearden, C E 2019, ' Altered white matter microstructure in 22q11.2 deletion syndrome : a multisite diffusion tensor imaging study ', Molecular Psychiatry . https://doi.org/10.1038/s41380-019-0450-0, Molecular Psychiatry, Molecular Psychiatry, 25(11), 2818-2831. Nature Publishing Group
Publication Year :
2020
Publisher :
eScholarship, University of California, 2020.

Abstract

22q11.2 deletion syndrome (22q11DS)—a neurodevelopmental condition caused by a hemizygous deletion on chromosome 22—is associated with an elevated risk of psychosis and other developmental brain disorders. Prior single-site diffusion magnetic resonance imaging (dMRI) studies have reported altered white matter (WM) microstructure in 22q11DS, but small samples and variable methods have led to contradictory results. Here we present the largest study ever conducted of dMRI-derived measures of WM microstructure in 22q11DS (334 22q11.2 deletion carriers and 260 healthy age- and sex-matched controls; age range 6–52 years). Using harmonization protocols developed by the ENIGMA-DTI working group, we identified widespread reductions in mean, axial and radial diffusivities in 22q11DS, most pronounced in regions with major cortico-cortical and cortico-thalamic fibers: the corona radiata, corpus callosum, superior longitudinal fasciculus, posterior thalamic radiations, and sagittal stratum (Cohen’s d’s ranging from −0.9 to −1.3). Only the posterior limb of the internal capsule (IC), comprised primarily of corticofugal fibers, showed higher axial diffusivity in 22q11DS. 22q11DS patients showed higher mean fractional anisotropy (FA) in callosal and projection fibers (IC and corona radiata) relative to controls, but lower FA than controls in regions with predominantly association fibers. Psychotic illness in 22q11DS was associated with more substantial diffusivity reductions in multiple regions. Overall, these findings indicate large effects of the 22q11.2 deletion on WM microstructure, especially in major cortico-cortical connections. Taken together with findings from animal models, this pattern of abnormalities may reflect disrupted neurogenesis of projection neurons in outer cortical layers. Sin financiación 15.992 JCR (2020) Q1, 10/295 Biochemistry & Molecular Biology 5.071 SJR (2020) Q1, 5/85 Cellular and Molecular Neuroscience No data IDR 2020 UEM

Details

ISSN :
13594184
Database :
OpenAIRE
Journal :
Molecular psychiatry, vol 25, iss 11, Villalon-Reina, J E, Martínez, K, Qu, X, Ching, C R K, Nir, T, Kothapalli, D, Corbin, C, Sun, D, Lin, A, Forsyth, J K, Kushan, L, Vajdi, A, Jalbrzikowski, M, Hansen, L, Jonas, R K, Van Amelsvoort, T, Bakker, G, Kates, W R, Antshel, K M, Fremont, W, Campbell, L E, McCabe, K L, Gudbrandsen, C M, Daly, E M, Gudbrandsen, C M, Murphy, C, Murphy, D G, Craig, M, Emanuel, B S, McDonald-McGinn, D M, Vorstman, J A S, Fiksinski, A, Koops, S, Ruparel, K, Roalf, D R, Gur, R E, Schmitt, J E, Simon, T J, Goodrich-hunsaker, N J, Durdle, C A, Doherty, J, Cunningham, A C, van den Bree, M, Linden, D E J, Owen, M J, Moss, H, Kelly, S, Donohoe, G, Murphy, K C, Arango, C, Jahanshad, N, Thompson, P M & Bearden, C E 2019, ' Altered white matter microstructure in 22q11.2 deletion syndrome : a multisite diffusion tensor imaging study ', Molecular Psychiatry . https://doi.org/10.1038/s41380-019-0450-0, Molecular Psychiatry, Molecular Psychiatry, 25(11), 2818-2831. Nature Publishing Group
Accession number :
edsair.doi.dedup.....dec4bc884702f6509b996d8477f481cc
Full Text :
https://doi.org/10.1038/s41380-019-0450-0