Back to Search
Start Over
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
- 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
- Subjects :
- Male
0301 basic medicine
Internal capsule
CHILDREN
Genética humana
Corpus callosum
Medical and Health Sciences
CARDIO-FACIAL SYNDROME
0302 clinical medicine
BRAIN
Child
Psychiatry
medicine.diagnostic_test
ABNORMALITIES
Superior longitudinal fasciculus
Anatomy
Middle Aged
Biological Sciences
White Matter
AXON
Psychiatry and Mental health
VELOCARDIOFACIAL SYNDROME
medicine.anatomical_structure
Female
Adult
Adolescent
Biology
Article
White matter
Young Adult
03 medical and health sciences
Cellular and Molecular Neuroscience
Corona radiata
Fractional anisotropy
DiGeorge Syndrome
Genetics
medicine
Humans
Molecular Biology
Biología celular
Psychology and Cognitive Sciences
Diagnostic markers
Magnetic resonance imaging
Genética
CORPUS-CALLOSUM
MODEL
Diffusion Magnetic Resonance Imaging
030104 developmental biology
Biología Molecular
Schizophrenia
Anisotropy
030217 neurology & neurosurgery
Neuroscience
Diffusion MRI
Subjects
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