scholarly journals Planar cell polarity pathway and development of the human visual cortex

2018 ◽  
Author(s):  
Jean Shin ◽  
Shaojie Ma ◽  
Edith Hofer ◽  
Yash Patel ◽  
Gennady V. Roshchupkin ◽  
...  
Keyword(s):  
Cerebral Cortex ◽  
Visual Cortex ◽  
Cytochrome Oxidase ◽  
Surface Area ◽  
Cell Polarity ◽  
Cortical Thickness ◽  
Planar Cell Polarity ◽  
Chromosome 17 ◽  
Intracranial Volume ◽  
Cortical Regions

AbstractThe radial unit hypothesis provides a framework for global (proliferation) and regional (distribution) expansion of the primate cerebral cortex. Using principal component analysis (PCA), we have identified cortical regions with shared variance in their surface area and cortical thickness, respectively, segmented from magnetic resonance images obtained in 23,800 participants. We then carried out meta-analyses of genome-wide association studies of the first two principal components for each phenotype. For surface area (but not cortical thickness), we have detected strong associations between each of the components and single nucleotide polymorphisms in a number of gene loci. The first (global) component was associated mainly with loci on chromosome 17 (9.5e-32 ≤ p ≤ 2.8e-10), including those detected previously as linked with intracranial volume and/or general cognitive function. The second (regional) component captured shared variation in the surface area of the primary and adjacent secondary visual cortices and showed a robust association with polymorphisms in a locus on chromosome 14 containing Disheveled Associated Activator of Morphogenesis 1 (DAAM1; p=2.4e-34). DAAM1 is a key component in the planar-cell-polarity signaling pathway. In follow-up studies, we have focused on the latter finding and established that: (1) DAAM1 is highly expressed between 12th and 22nd post-conception weeks in the human cerebral cortex; (2) genes co-expressed with DAAM1 in the primary visual cortex are enriched in mitochondria-related pathways; and (3) volume of the lateral geniculate nucleus, which projects to regions of the visual cortex staining for cytochrome oxidase (a mitochondrial enzyme), correlates with the surface area of the visual cortex in major-allele homozygotes but not in carriers of the minor allele. Altogether, we speculate that, in concert with thalamocortical input to cortical subplate, DAAM1 enables migration of neurons to cytochrome-oxidase rich regions of the visual cortex, and, in turn, facilitates regional expansion of this set of cortical regions during development.

scholarly journals Cortical Volume, Thickness, and Surface Area in the Motoric Cognitive Risk Syndrome

2021 ◽  
pp. 1-14
Author(s):  
Helena M. Blumen ◽  
Emily Schwartz ◽  
Gilles Allali ◽  
Olivier Beauchet ◽  
Michele Callisaya ◽  
...  
Keyword(s):  
Surface Area ◽  
Sex Education ◽  
Cortical Thickness ◽  
Clinical Stage ◽  
White Matter Lesions ◽  
Cortical Atrophy ◽  
Intracranial Volume ◽  
Cortical Volume ◽  
Cognitive Risk ◽  
Cognitive Complaint

Background: The motoric cognitive risk (MCR) syndrome is a pre-clinical stage of dementia characterized by slow gait and cognitive complaint. Yet, the brain substrates of MCR are not well established. Objective: To examine cortical thickness, volume, and surface area associated with MCR in the MCR-Neuroimaging Consortium, which harmonizes image processing/analysis of multiple cohorts. Methods: Two-hundred MRIs (M age 72.62 years; 47.74%female; 33.17%MCR) from four different cohorts (50 each) were first processed with FreeSurfer 6.0, and then analyzed using multivariate and univariate general linear models with 1,000 bootstrapped samples (n-1; with resampling). All models adjusted for age, sex, education, white matter lesions, total intracranial volume, and study site. Results: Overall, cortical thickness was lower in individuals with MCR than in those without MCR. There was a trend in the same direction for cortical volume (p = 0.051). Regional cortical thickness was also lower among individuals with MCR than individuals without MCR in prefrontal, insular, temporal, and parietal regions. Conclusion: Cortical atrophy in MCR is pervasive, and include regions previously associated with human locomotion, but also social, cognitive, affective, and motor functions. Cortical atrophy in MCR is easier to detect in cortical thickness than volume and surface area because thickness is more affected by healthy and pathological aging.

scholarly journals Global and Regional Development of the Human Cerebral Cortex: Molecular Architecture and Occupational Aptitudes

2020 ◽  
Vol 30 (7) ◽  
pp. 4121-4139 ◽  
Author(s):  
Jean Shin ◽  
Shaojie Ma ◽  
Edith Hofer ◽  
Yash Patel ◽  
Daniel E Vosberg ◽  
...  
Keyword(s):  
Cerebral Cortex ◽  
Regional Development ◽  
Planar Cell Polarity ◽  
Association Studies ◽  
Learning Ability ◽  
Form Perception ◽  
Intracranial Volume ◽  
Genome Wide Association Studies ◽  
Molecular Architecture ◽  
Human Cerebral Cortex

Abstract We have carried out meta-analyses of genome-wide association studies (GWAS) (n = 23 784) of the first two principal components (PCs) that group together cortical regions with shared variance in their surface area. PC1 (global) captured variations of most regions, whereas PC2 (visual) was specific to the primary and secondary visual cortices. We identified a total of 18 (PC1) and 17 (PC2) independent loci, which were replicated in another 25 746 individuals. The loci of the global PC1 included those associated previously with intracranial volume and/or general cognitive function, such as MAPT and IGF2BP1. The loci of the visual PC2 included DAAM1, a key player in the planar-cell-polarity pathway. We then tested associations with occupational aptitudes and, as predicted, found that the global PC1 was associated with General Learning Ability, and the visual PC2 was associated with the Form Perception aptitude. These results suggest that interindividual variations in global and regional development of the human cerebral cortex (and its molecular architecture) cascade—albeit in a very limited manner—to behaviors as complex as the choice of one’s occupation.

scholarly journals Cytoarchitectonic similarity is a wiring principle of the human connectome

2016 ◽  
Author(s):  
Alexandros Goulas ◽  
René Werner ◽  
Sarah F Beul ◽  
Dennis Säring ◽  
Martijn van den Heuvel ◽  
...  
Keyword(s):  
Cerebral Cortex ◽  
Cortical Thickness ◽  
State Of The Art ◽  
Human Cerebral Cortex ◽  
Wiring Diagram ◽  
Classic Work ◽  
Human Connectome Project ◽  
Fundamental Challenge ◽  
Cortical Regions

AbstractUnderstanding the wiring diagram of the human cerebral cortex is a fundamental challenge in neuroscience. Elemental aspects of its organization remain elusive. Here we examine which structural traits of cortical regions, particularly their cytoarchitecture and thickness, relate to the existence and strength of inter-regional connections. We use the architecture data from the classic work of von Economo and Koskinas and state-of-the-art diffusion-based connectivity data from the Human Connectome Project. Our results reveal a prominent role of the cytoarchitectonic similarity of supragranular layers for predicting the existence and strength of connections. In contrast, cortical thickness similarity was not related to the existence or strength of connections. These results are in line with findings for non-human mammalian cerebral cortices, suggesting overarching wiring principles of the mammalian cerebral cortex. The results invite hypotheses about evolutionary conserved neurobiological mechanisms that give rise to the relation of cytoarchitecture and connectivity in the human cerebral cortex.

scholarly journals Brain structural differences between 73- and 92-year olds matched for childhood intelligence, social background, and intracranial volume

2017 ◽  
Author(s):  
Stuart J. Ritchie ◽  
David Alexander Dickie ◽  
Simon R. Cox ◽  
Maria del C. Valdés Hernández ◽  
Alison Pattie ◽  
...  
Keyword(s):  
White Matter ◽  
Cognitive Ability ◽  
Surface Area ◽  
Cortical Thickness ◽  
White Matter Hyperintensity ◽  
Socioeconomic Background ◽  
Intracranial Volume ◽  
Cortical Surface ◽  
Age Cohorts ◽  
Cortical Surface Area

AbstractFully characterizing age differences in the brain is a key task for combatting ageing-related cognitive decline. Using propensity score matching on two independent, narrow-age cohorts, we used data on childhood cognitive ability, socioeconomic background, and intracranial volume to match participants at mean age 92 years (n = 42) to very similar participants at mean age 73 (n = 126). Examining a variety of global and regional structural neuroimaging variables, there were large differences in grey and white matter volumes, cortical surface area, cortical thickness, and white matter hyperintensity volume and spatial extent. In a mediation analysis, the total volume of white matter hyperintensities and total cortical surface area jointly mediated 24.9% of the relation between age and general cognitive ability (tissue volumes and cortical thickness were not significant mediators in this analysis). These findings provide an unusual and valuable perspective on neurostructural ageing, in which brains from the eighth and tenth decades of life differ widely despite the same cognitive, socio-economic, and brain-volumetric starting points.

scholarly journals Mapping cortical brain asymmetry in 17,141 healthy individuals worldwide via the ENIGMA Consortium

2018 ◽  
Vol 115 (22) ◽  
pp. E5154-E5163 ◽  
Author(s):  
Xiang-Zhen Kong ◽  
Samuel R. Mathias ◽  
Tulio Guadalupe ◽  
David C. Glahn ◽  
Barbara Franke ◽  
...  
Keyword(s):  
Surface Area ◽  
Cortical Thickness ◽  
Meta Analysis ◽  
Inferior Frontal Gyrus ◽  
Population Level ◽  
Brain Asymmetry ◽  
Parahippocampal Gyrus ◽  
Intracranial Volume ◽  
Healthy Individuals ◽  
Brain Organization

Hemispheric asymmetry is a cardinal feature of human brain organization. Altered brain asymmetry has also been linked to some cognitive and neuropsychiatric disorders. Here, the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) Consortium presents the largest-ever analysis of cerebral cortical asymmetry and its variability across individuals. Cortical thickness and surface area were assessed in MRI scans of 17,141 healthy individuals from 99 datasets worldwide. Results revealed widespread asymmetries at both hemispheric and regional levels, with a generally thicker cortex but smaller surface area in the left hemisphere relative to the right. Regionally, asymmetries of cortical thickness and/or surface area were found in the inferior frontal gyrus, transverse temporal gyrus, parahippocampal gyrus, and entorhinal cortex. These regions are involved in lateralized functions, including language and visuospatial processing. In addition to population-level asymmetries, variability in brain asymmetry was related to sex, age, and intracranial volume. Interestingly, we did not find significant associations between asymmetries and handedness. Finally, with two independent pedigree datasets (n = 1,443 and 1,113, respectively), we found several asymmetries showing significant, replicable heritability. The structural asymmetries identified and their variabilities and heritability provide a reference resource for future studies on the genetic basis of brain asymmetry and altered laterality in cognitive, neurological, and psychiatric disorders.

scholarly journals Significance of Normalization on Anatomical MRI Measures in Predicting Alzheimer’s Disease

2014 ◽  
Vol 2014 ◽  
pp. 1-11 ◽  
Author(s):  
Qi Zhou ◽  
Mohammed Goryawala ◽  
Mercedes Cabrerizo ◽  
Warren Barker ◽  
Ranjan Duara ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Surface Area ◽  
Cortical Thickness ◽  
Feature Selection Method ◽  
Support Vector ◽  
Intracranial Volume ◽  
Single Measure ◽  
Subcortical Volumes ◽  
Subcortical Volume

This study establishes a new approach for combining neuroimaging and neuropsychological measures for an optimal decisional space to classify subjects with Alzheimer’s disease (AD). This approach relies on a multivariate feature selection method with different MRI normalization techniques. Subcortical volume, cortical thickness, and surface area measures are obtained using MRIs from 189 participants (129 normal controls and 60 AD patients). Statistically significant variables were selected for each combination model to construct a multidimensional space for classification. Different normalization approaches were explored to gauge the effect on classification performance using a support vector machine classifier. Results indicate that the Mini-mental state examination (MMSE) measure is most discriminative among single-measure models, while subcortical volume combined with MMSE is the most effective multivariate model for AD classification. The study demonstrates that subcortical volumes need not be normalized, whereas cortical thickness should be normalized either by intracranial volume or mean thickness, and surface area is a weak indicator of AD with and without normalization. On the significant brain regions, a nearly perfect symmetry is observed for subcortical volumes and cortical thickness, and a significant reduction in thickness is particularly seen in the temporal lobe, which is associated with brain deficits characterizing AD.

scholarly journals Handedness and its genetic influences are associated with structural asymmetries of the cerebral cortex in 31,864 individuals

2021 ◽  
Vol 118 (47) ◽  
pp. e2113095118
Author(s):  
Zhiqiang Sha ◽  
Antonietta Pepe ◽  
Dick Schijven ◽  
Amaia Carrión-Castillo ◽  
James M. Roe ◽  
...  
Keyword(s):  
Cerebral Cortex ◽  
Surface Area ◽  
Image Data ◽  
Hand Preference ◽  
Occipital Cortex ◽  
Imaging Data ◽  
Left Handedness ◽  
Genome Wide ◽  
Cortical Regions ◽  
Related Proteins

Roughly 10% of the human population is left-handed, and this rate is increased in some brain-related disorders. The neuroanatomical correlates of hand preference have remained equivocal. We resampled structural brain image data from 28,802 right-handers and 3,062 left-handers (UK Biobank population dataset) to a symmetrical surface template, and mapped asymmetries for each of 8,681 vertices across the cerebral cortex in each individual. Left-handers compared to right-handers showed average differences of surface area asymmetry within the fusiform cortex, the anterior insula, the anterior middle cingulate cortex, and the precentral cortex. Meta-analyzed functional imaging data implicated these regions in executive functions and language. Polygenic disposition to left-handedness was associated with two of these regional asymmetries, and 18 loci previously linked with left-handedness by genome-wide screening showed associations with one or more of these asymmetries. Implicated genes included six encoding microtubule-related proteins: TUBB, TUBA1B, TUBB3, TUBB4A, MAP2, and NME7—mutations in the latter can cause left to right reversal of the visceral organs. There were also two cortical regions where average thickness asymmetry was altered in left-handedness: on the postcentral gyrus and the inferior occipital cortex, functionally annotated with hand sensorimotor and visual roles. These cortical thickness asymmetries were not heritable. Heritable surface area asymmetries of language-related regions may link the etiologies of hand preference and language, whereas nonheritable asymmetries of sensorimotor cortex may manifest as consequences of hand preference.

scholarly journals Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia

2021 ◽  
Vol 15 ◽  
Author(s):  
Rebecca Lowndes ◽  
Barbara Molz ◽  
Lucy Warriner ◽  
Anne Herbik ◽  
Pieter B. de Best ◽  
...  
Keyword(s):  
Visual Cortex ◽  
Surface Area ◽  
Grey Matter Volume ◽  
Cortical Surface ◽  
Colour Perception ◽  
Cortical Surface Area ◽  
Visual Areas ◽  
Cortical Regions ◽  
Visual Cortical ◽  
Cortical Morphology

Most individuals with congenital achromatopsia (ACHM) carry mutations that affect the retinal phototransduction pathway of cone photoreceptors, fundamental to both high acuity vision and colour perception. As the central fovea is occupied solely by cones, achromats have an absence of retinal input to the visual cortex and a small central area of blindness. Additionally, those with complete ACHM have no colour perception, and colour processing regions of the ventral cortex also lack typical chromatic signals from the cones. This study examined the cortical morphology (grey matter volume, cortical thickness, and cortical surface area) of multiple visual cortical regions in ACHM (n = 15) compared to normally sighted controls (n = 42) to determine the cortical changes that are associated with the retinal characteristics of ACHM. Surface-based morphometry was applied to T1-weighted MRI in atlas-defined early, ventral and dorsal visual regions of interest. Reduced grey matter volume in V1, V2, V3, and V4 was found in ACHM compared to controls, driven by a reduction in cortical surface area as there was no significant reduction in cortical thickness. Cortical surface area (but not thickness) was reduced in a wide range of areas (V1, V2, V3, TO1, V4, and LO1). Reduction in early visual areas with large foveal representations (V1, V2, and V3) suggests that the lack of foveal input to the visual cortex was a major driving factor in morphological changes in ACHM. However, the significant reduction in ventral area V4 coupled with the lack of difference in dorsal areas V3a and V3b suggest that deprivation of chromatic signals to visual cortex in ACHM may also contribute to changes in cortical morphology. This research shows that the congenital lack of cone input to the visual cortex can lead to widespread structural changes across multiple visual areas.

scholarly journals Altered structural brain asymmetry in autism spectrum disorder: large-scale analysis via the ENIGMA Consortium

2019 ◽  
Author(s):  
Merel C. Postema ◽  
Daan van Rooij ◽  
Evdokia Anagnostou ◽  
Celso Arango ◽  
Guillaume Auzias ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Surface Area ◽  
Cortical Thickness ◽  
Large Scale ◽  
Autism Spectrum ◽  
Brain Asymmetry ◽  
Scale Analysis ◽  
Large Scale Analysis ◽  
Cortical Regions ◽  
Structural Brain

AbstractBackgroundLeft-right asymmetry is an important organizing feature of the healthy brain. Various studies have reported altered structural brain asymmetry in autism spectrum disorder (ASD). However, findings have been inconsistent, likely due to limited sample sizes and low statistical power.MethodsWe investigated 1,774 subjects with ASD and 1,809 controls, from 54 datasets, for differences in the asymmetry of thickness and surface area of 34 cerebral cortical regions. We also examined global hemispheric measures of cortical thickness and area asymmetry, and volumetric asymmetries of subcortical structures. Data were obtained via the ASD Working Group of the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) consortium. T1-weighted MRI data were processed with a single protocol using FreeSurfer and the Desikan-Killiany atlas.ResultsASD was significantly associated with reduced leftward asymmetry of total hemispheric average cortical thickness, compared to controls. Eight regional thickness asymmetries, distributed over the cortex, also showed significant associations with diagnosis after correction for multiple comparisons, for which asymmetry was again generally lower in ASD versus controls. In addition, the medial orbitofrontal surface area was less rightward asymmetric in ASD than controls, and the putamen volume was more leftward asymmetric in ASD than controls. The largest effect size had Cohen’sd= 0.15. Most effects did not depend on age, sex, IQ, or disorder severity.ConclusionAltered lateralized neurodevelopment is suggested in ASD, affecting widespread cortical regions with diverse functions. Large-scale analysis was necessary to reliably detect, and accurately describe, subtle alterations of structural brain asymmetry in this disorder.

scholarly journals Mapping Cortical Brain Asymmetry in 17,141 Healthy Individuals Worldwide via the ENIGMA Consortium

2017 ◽  
Author(s):  
Xiang-Zhen Kong ◽  
Samuel R. Mathias ◽  
Tulio Guadalupe ◽  
Christoph Abé ◽  
Ingrid Agartz ◽  
...  
Keyword(s):  
Human Brain ◽  
Surface Area ◽  
Cortical Thickness ◽  
Brain Size ◽  
Population Level ◽  
Brain Asymmetry ◽  
Brain Anatomy ◽  
Intracranial Volume ◽  
Healthy Individuals ◽  
Future Studies

AbstractHemispheric asymmetry is a cardinal feature of human brain organization. Altered brain asymmetry has also been linked to some cognitive and neuropsychiatric disorders. Here the ENIGMA consortium presents the largest ever analysis of cerebral cortical asymmetry and its variability across individuals. Cortical thickness and surface area were assessed in MRI scans of 17,141 healthy individuals from 99 datasets worldwide. Results revealed widespread asymmetries at both hemispheric and regional levels, with a generally thicker cortex but smaller surface area in the left hemisphere relative to the right. Regionally, asymmetries of cortical thickness and/or surface area were found in the inferior frontal gyrus, transverse temporal gyrus, parahippocampal gyrus, and entorhinal cortex. These regions are involved in lateralized functions, including language and visuospatial processing. In addition to population-level asymmetries, variability in brain asymmetry was related to sex, age, and brain size (indexed by intracranial volume). Interestingly, we did not find significant associations between asymmetries and handedness. Finally, with two independent pedigree datasets (N = 1,443 and 1,113, respectively), we found several asymmetries showing modest but highly reliable heritability. The structural asymmetries identified, and their variabilities and heritability provide a reference resource for future studies on the genetic basis of brain asymmetry and altered laterality in cognitive, neurological, and psychiatric disorders.Significance StatementLeft-right asymmetry is a key feature of the human brain's structure and function. It remains unclear which cortical regions are asymmetrical on average in the population, and how biological factors such as age, sex and genetic variation affect these asymmetries. Here we describe by far the largest ever study of cerebral cortical brain asymmetry, based on data from 17,141 participants. We found a global anterior-posterior 'torque' pattern in cortical thickness, together with various regional asymmetries at the population level, which have not been previously described, as well as effects of age, sex, and heritability estimates. From these data, we have created an on-line resource that will serve future studies of human brain anatomy in health and disease.

Sign in / Sign up

Export Citation Format

Share Document