Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation
Abstract The 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 abil...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-08-01
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| Series: | Brain and Behavior |
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| Online Access: | https://doi.org/10.1002/brb3.2241 |
| _version_ | 1797754676896071680 |
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| author | Pinar Demirayak Kader Karli Oguz Fatma Seyhun Ustun Buse Merve Urgen Yasemin Topac Irtiza Gilani Tulay Kansu Serap Saygi Tayfun Ozcelik Huseyin Boyaci Katja Doerschner |
| author_facet | Pinar Demirayak Kader Karli Oguz Fatma Seyhun Ustun Buse Merve Urgen Yasemin Topac Irtiza Gilani Tulay Kansu Serap Saygi Tayfun Ozcelik Huseyin Boyaci Katja Doerschner |
| author_sort | Pinar Demirayak |
| collection | DOAJ |
| description | Abstract The 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. |
| first_indexed | 2024-03-12T17:35:53Z |
| format | Article |
| id | doaj.art-b7fe1d4ee3a044f99081c0f927d8b69b |
| institution | Directory Open Access Journal |
| issn | 2162-3279 |
| language | English |
| last_indexed | 2024-03-12T17:35:53Z |
| publishDate | 2021-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Brain and Behavior |
| spelling | doaj.art-b7fe1d4ee3a044f99081c0f927d8b69b2023-08-04T10:56:25ZengWileyBrain and Behavior2162-32792021-08-01118n/an/a10.1002/brb3.2241Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutationPinar Demirayak0Kader Karli Oguz1Fatma Seyhun Ustun2Buse Merve Urgen3Yasemin Topac4Irtiza Gilani5Tulay Kansu6Serap Saygi7Tayfun Ozcelik8Huseyin Boyaci9Katja Doerschner10Department of Neurobiology University of Alabama at Birmingham Birmingham Alabama USAA.S. Brain Research Center and National Magnetic Resonance Center Bilkent University Ankara TurkeyA.S. Brain Research Center and National Magnetic Resonance Center Bilkent University Ankara TurkeyA.S. Brain Research Center and National Magnetic Resonance Center Bilkent University Ankara TurkeyA.S. Brain Research Center and National Magnetic Resonance Center Bilkent University Ankara TurkeyA.S. Brain Research Center and National Magnetic Resonance Center Bilkent University Ankara TurkeyDepartment of Neurology Hacettepe University Ankara TurkeyDepartment of Neurology Hacettepe University Ankara TurkeyA.S. Brain Research Center and National Magnetic Resonance Center Bilkent University Ankara TurkeyA.S. Brain Research Center and National Magnetic Resonance Center Bilkent University Ankara TurkeyA.S. Brain Research Center and National Magnetic Resonance Center Bilkent University Ankara TurkeyAbstract The 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.https://doi.org/10.1002/brb3.2241diffusion tensor imagingfunctional connectivityLAMC3probabilistic tracktographyresting statestructural connectivity |
| spellingShingle | Pinar Demirayak Kader Karli Oguz Fatma Seyhun Ustun Buse Merve Urgen Yasemin Topac Irtiza Gilani Tulay Kansu Serap Saygi Tayfun Ozcelik Huseyin Boyaci Katja Doerschner Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation Brain and Behavior diffusion tensor imaging functional connectivity LAMC3 probabilistic tracktography resting state structural connectivity |
| title | Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation |
| title_full | Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation |
| title_fullStr | Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation |
| title_full_unstemmed | Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation |
| title_short | Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation |
| title_sort | cortical connectivity in the face of congenital structural changes a case of homozygous lamc3 mutation |
| topic | diffusion tensor imaging functional connectivity LAMC3 probabilistic tracktography resting state structural connectivity |
| url | https://doi.org/10.1002/brb3.2241 |
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