Homozygous LAMC3 mutation links to structural and functional changes in visual attention networks

Neuroimage. 2019 Apr 15;190:242-253. doi: 10.1016/j.neuroimage.2018.03.077.

Buse M Urgen ¹, Yasemin Topac ², F Seyhun Ustun ³, Pinar Demirayak ³, Kader K Oguz ⁴, Tulay Kansu ⁵, Serap Saygi ⁵, Tayfun Ozcelik ⁶, Huseyin Boyaci ⁷, Katja Doerschner ⁸

Affiliations

1 National Magnetic Resonance Research Center and Aysel Sabuncu Brain Research Center, Bilkent University, Ankara, Turkey; Graduate School of Engineering and Science, Neuroscience Program, Bilkent University, Ankara, Turkey. Electronic address: buse.urgen@bilkent.edu.tr.
2 National Magnetic Resonance Research Center and Aysel Sabuncu Brain Research Center, Bilkent University, Ankara, Turkey.
3 National Magnetic Resonance Research Center and Aysel Sabuncu Brain Research Center, Bilkent University, Ankara, Turkey; Graduate School of Engineering and Science, Neuroscience Program, Bilkent University, Ankara, Turkey.
4 National Magnetic Resonance Research Center and Aysel Sabuncu Brain Research Center, Bilkent University, Ankara, Turkey; Faculty of Medicine, Department of Radiology, Hacettepe University, Ankara, Turkey.
5 Faculty of Medicine, Department of Neurology, Hacettepe University, Ankara, Turkey.
6 Graduate School of Engineering and Science, Neuroscience Program, Bilkent University, Ankara, Turkey; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.
7 National Magnetic Resonance Research Center and Aysel Sabuncu Brain Research Center, Bilkent University, Ankara, Turkey; Graduate School of Engineering and Science, Neuroscience Program, Bilkent University, Ankara, Turkey; Department of Psychology, Bilkent University, Ankara, Turkey.
8 National Magnetic Resonance Research Center and Aysel Sabuncu Brain Research Center, Bilkent University, Ankara, Turkey; Graduate School of Engineering and Science, Neuroscience Program, Bilkent University, Ankara, Turkey; Department of Psychology, Bilkent University, Ankara, Turkey; Department of Psychology, Justus Liebig University Giessen, Giessen, Germany.

PMID: 29626609 DOI: 10.1016/j.neuroimage.2018.03.077

Abstract

The occipital lobe contains a substantial part of the neural machinery involved in visual perception. Mutations in the LAMC3 gene have recently been shown to cause complex bilateral occipital cortical gyration abnormalities. However, to what extent these structural changes impact visual behavior is not known. We recorded responses for two screening test batteries targeting visual function (Leuven - Perceptual Organization Screening Test, Cortical Vision Screening Test) and measured eye fixation performance in a visual attention experiment from a patient with homozygous LAMC3 gene mutation. Using voxel-based morphometry (VBM) we quantitatively assessed the extent of structural changes brought on by the genetic mutation by comparing mean cortical curvature, cortical thickness, and gray matter volume in 34 cortical areas between patient and an age-, sex-, and education-matched control group. Anatomical connectivity between these cortical areas was investigated by a structural covariance analysis. Visual screening-, and behavioral results revealed that the patient's impairments were predominantly in visuo-spatial attention. Consistent with this, VBM and structural connectivity results revealed significant structural changes in cortical regions subserving attentional functions. We conclude that the LAMC3 gene mutation affects cortical areas beyond the occipital lobe and primarily those visual functions that involve heavily distributed networks - such as visuo-spatial attention.

Keywords

Cortical organization; LAMC3 mutation; Structural covariance analysis; Visuo-spatial attention; Voxel-based morphometry.

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