Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation

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buir.contributor.authorOğuz, Kader Karlı
buir.contributor.authorÜstün, Fatma Seyhun
buir.contributor.authorÜrgen, Buse Merve
buir.contributor.authorTopaç, Yasemin
buir.contributor.authorGilani, İrtiza
buir.contributor.authorÖzçelik, Tayfun
buir.contributor.authorBoyacı, Hüseyin
buir.contributor.authorDoerschner, Katja
buir.contributor.orcidOğuz, Kader Karlı|0000-0002-3385-4665
buir.contributor.orcidÜrgen, Buse Merve|0000-0001-8776-8394
buir.contributor.orcidTopaç, Yasemin|0000-0001-8409-737X
buir.contributor.orcidÖzçelik, Tayfun|0000-0001-5937-1082
buir.contributor.orcidBoyacı, Hüseyin|0000-0003-3168-0654
buir.contributor.orcidDoerschner, Katja|0000-0002-8364-800X
dc.citation.epage18en_US
dc.citation.issueNumber8en_US
dc.citation.spage1en_US
dc.citation.volumeNumber11en_US
dc.contributor.authorDemirayak, P.
dc.contributor.authorOğuz, Kader Karlı
dc.contributor.authorÜstün, Fatma Seyhun
dc.contributor.authorÜrgen, Buse Merve
dc.contributor.authorTopaç, Yasemin
dc.contributor.authorGilani, İrtiza
dc.contributor.authorKansu, T.
dc.contributor.authorSaygı, S.
dc.contributor.authorÖzçelik, Tayfun
dc.contributor.authorBoyacı, Hüseyin
dc.contributor.authorDoerschner, Katja
dc.date.accessioned2022-02-17T10:28:55Z
dc.date.available2022-02-17T10:28:55Z
dc.date.issued2021-08
dc.departmentNational Magnetic Resonance Research Center (UMRAM)en_US
dc.description.abstractThe homozygous LAMC3 gene mutation is associated with severe bilateral smoothening and thickening of the lateral occipital cortex . Despite this and further significant changes in gray matter structure, a patient harboring this mutation exhibited a range of remarkably intact perceptual abilities . One possible explanation of this perceptual sparing could be that the white matter structural integrity and functional connectivity in relevant pathways remained intact. To test this idea, we used diffusion tensor and functional magnetic resonance imaging to investigate functional connectivity in resting-state networks in major structural pathways involved in object perception and visual attention and corresponding microstructural integrity in a patient with homozygous LAMC3 mutation and sex, age, education, and socioeconomically matched healthy control group. White matter microstructural integrity results indicated widespread disruptions in both intra- and interhemispheric structural connections except inferior longitudinal fasciculus. With a few exceptions, the functional connectivity between the patient's adjacent gray matter regions of major white matter tracts of interest was conserved. In addition, functional localizers for face, object, and place areas showed similar results with a representative control, providing an explanation for the patient's intact face, place, and object recognition abilities. To generalize this finding, we also compared functional connectivity between early visual areas and face, place, and object category-selective areas, and we found that the functional connectivity of the patient was not different from the control group. Overall, our results provided complementary information about the effects of LAMC3 gene mutation on the human brain including intact temporo-occipital structural and functional connectivity that are compatible with preserved perceptual abilities.en_US
dc.description.provenanceSubmitted by Samet Emre (samet.emre@bilkent.edu.tr) on 2022-02-17T10:28:55Z No. of bitstreams: 1 Cortical_connectivity_in_the_face_of_congenital_structural_changes—A_case_of_homozygous_LAMC3_mutation.pdf: 4756127 bytes, checksum: b3d8b0073b2b896128c49e48bf8ab1fb (MD5)en
dc.description.provenanceMade available in DSpace on 2022-02-17T10:28:55Z (GMT). No. of bitstreams: 1 Cortical_connectivity_in_the_face_of_congenital_structural_changes—A_case_of_homozygous_LAMC3_mutation.pdf: 4756127 bytes, checksum: b3d8b0073b2b896128c49e48bf8ab1fb (MD5) Previous issue date: 2021-08en
dc.identifier.doi10.1002/brb3.2241en_US
dc.identifier.issn2162-3279
dc.identifier.urihttp://hdl.handle.net/11693/77462
dc.language.isoEnglishen_US
dc.publisherJohn Wiley & Sons Ltd.en_US
dc.relation.isversionofhttps://doi.org/10.1002/brb3.2241en_US
dc.source.titleBrain and Behavioren_US
dc.subjectDiffusion tensor imagingen_US
dc.subjectFunctional connectivityen_US
dc.subjectLAMC3en_US
dc.subjectProbabilistic tracktographyen_US
dc.subjectRestingen_US
dc.titleCortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutationen_US
dc.typeArticleen_US

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