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

Brain and Behavior

Yasemin Topac¹  Huseyin Boyaci¹  Katja Doerschner¹  Buse Merve Urgen¹  Fatma Seyhun Ustun¹  Kader Karli Oguz¹  Irtiza Gilani¹  Tayfun Ozcelik¹  Pinar Demirayak²  Serap Saygi³  Tulay Kansu³ 

[1] A.S. Brain Research Center and National Magnetic Resonance Center Bilkent University Ankara Turkey;Department of Neurobiology University of Alabama at Birmingham Birmingham Alabama USA;Department of Neurology Hacettepe University Ankara Turkey;

关键词: diffusion tensor imaging;    functional connectivity;    LAMC3;    probabilistic tracktography;    resting state;    structural connectivity;   

DOI  :  10.1002/brb3.2241

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown