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

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buir.contributor.authorÜrgen, Buse M.
buir.contributor.authorTopaç, Yasemin
buir.contributor.authorÜstün, F. Seyhun
buir.contributor.authorDemirayak, Pınar
buir.contributor.authorOğuz, Kader K.
buir.contributor.authorÖzçelik, Tayfun
buir.contributor.authorBoyacı, Hüseyin
buir.contributor.authorDoerschner, Katja
dc.citation.epage253en_US
dc.citation.issueNumberPart of special issue: Mapping diseased brainsen_US
dc.citation.spage242en_US
dc.citation.volumeNumber190en_US
dc.contributor.authorÜrgen, Buse M.en_US
dc.contributor.authorTopaç, Yaseminen_US
dc.contributor.authorÜstün, F. Seyhunen_US
dc.contributor.authorDemirayak, Pınaren_US
dc.contributor.authorOğuz, Kader K.en_US
dc.contributor.authorKansu, T.en_US
dc.contributor.authorSaygı, S.en_US
dc.contributor.authorÖzçelik, Tayfunen_US
dc.contributor.authorBoyacı, Hüseyinen_US
dc.contributor.authorDoerschner, Katjaen_US
dc.date.accessioned2019-02-21T16:01:52Z
dc.date.available2019-02-21T16:01:52Z
dc.date.issued2019en_US
dc.departmentNational Magnetic Resonance Research Center (UMRAM)en_US
dc.departmentInterdisciplinary Program in Neuroscience (NEUROSCIENCE)en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.departmentDepartment of Psychologyen_US
dc.departmentAysel Sabuncu Brain Research Center (BAM)en_US
dc.description.abstractThe 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.
dc.description.provenanceMade available in DSpace on 2019-02-21T16:01:52Z (GMT). No. of bitstreams: 1 Bilkent-research-paper.pdf: 222869 bytes, checksum: 842af2b9bd649e7f548593affdbafbb3 (MD5) Previous issue date: 2018en
dc.description.sponsorshipThis work was supported by the Turkish National Scientific and Technological Council ( TUBITAK 112K069 ), a Turkish Academy of Sciences Young Scientist Award and a Sofja Kovalevskaja Award by the A. v. Humboldt foundation awarded to K.D.
dc.identifier.doi10.1016/j.neuroimage.2018.03.077
dc.identifier.issn1053-8119
dc.identifier.urihttp://hdl.handle.net/11693/49932
dc.language.isoEnglish
dc.publisherElsevier
dc.relation.isversionofhttps://doi.org/10.1016/j.neuroimage.2018.03.077
dc.relation.projectNational Council for Scientific Research, NCSR - 112K069 - Alexander von Humboldt-Stiftung
dc.rightsinfo:eu-repo/semantics/openAccess
dc.source.titleNeuroImageen_US
dc.subjectCortical organizationen_US
dc.subjectLAMC3 mutationen_US
dc.subjectStructural covariance analysisen_US
dc.subjectVisuo-spatial attentionen_US
dc.subjectVoxel-based morphometryen_US
dc.titleHomozygous LAMC3 mutation links to structural and functional changes in visual attention networksen_US
dc.typeArticleen_US

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