scholarly journals Association of Visual Impairment with Brain Structure

2021 ◽  
Author(s):  
Zhuoting Zhu ◽  
Wenyi Hu ◽  
Huan Liao ◽  
Danli Shi ◽  
Zachary Tan ◽  
...  
Keyword(s):  
Visual Impairment ◽  
Brain Structures ◽  
Brain Regions ◽  
Uk Biobank ◽  
Total Brain Volume ◽  
Brain Volumes ◽  
Total Brain ◽  
Magnetic Resonance Imaging Mri ◽  
The Uk ◽  
Global Brain

AbstractObjectiveTo investigate the association of visual impairment (VI) with brain structures in the UK Biobank Study.MethodsThe UK Biobank Study is a large prospective study that recruited more than 500,000 participants aged 40-69 from 2006 to 2010 across the UK. Visual acuity (VA) of worse than 0.3 LogMAR units (Snellen 20/40) was defined as VI. Structural magnetic resonance imaging (MRI) data were obtained using a 3.0-T MRI imager. Volumetric measures of five global brain volumes (total brain volume, total grey matter, total white matter, cerebrospinal fluid (CSF), brain stem) and the volumes of seven specific brain region (thalamus, caudate nucleus, basal ganglia, pallidum, hippocampus, amygdala and nucleus accumbens) were included in the present analysis. Multivariable linear regression was used to investigate the association of VI with global and specific brain volumes.ResultsA total of 8976 participants free of neurological disorders at baseline assessment were included for the present analysis. The prevalence of VI was 0.02% (n=181). After adjusting for a range of cofounding factors, VI was significantly associated with decreased volumes of the total brain (β = -0.12, 95% confidence interval (CI) -0.23 to 0.00, P = 0.049), thalamus (β = -0.16, 95% CI -0.18 to -0.04, P = 0.010), caudatenucleus (β = -0.14, 95% CI -0.27 to 0.00, P = 0.046), pallidum (β = -0.15, 95% CI-0.27 to -0.02, P = 0.028) and amygdala (β = -0.18, 95% CI -0.31 to -0.04, P = 0.012).InterpretationWe found that VI is associated with a decrease in total brain volumes and the volumes of specific brain regions implicated in neurodegenerative diseases.

Meta-analysis of Magnetic Resonance Imaging Studies in Velocardiofacial Syndrome (VCFS)

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
G. Tan ◽  
D. Arnone ◽  
A.M. McIntosh ◽  
K.P. Ebmeier
Keyword(s):  
Meta Analysis ◽  
Genetic Disorder ◽  
Velocardiofacial Syndrome ◽  
Original Data ◽  
Brain Regions ◽  
Significant Heterogeneity ◽  
Total Brain Volume ◽  
Brain Volumes ◽  
Total Brain ◽  
Increased Risk

Introduction:Velocardiofacial syndrome (VCFS) is a common genetic disorder due to a micro deletion on chromosome 22q11. This region includes several risk-associated genetic variants, including COMT, and VCFS is associated with a substantially increased risk for schizophrenia. As such, VCFS may serve as a valuable model for clarifying the neuroanatomical changes associated with genetic risk for psychosis.Methods:A systematic literature search was conducted. Studies were included if they presented original data and were published by March 2008, compared subjects with VCFS and healthy controls and reported measures of brain regions according to SI units as mean and standard deviation. Data extracted from the studies included diagnosis, demographic variables and IQ. Statistical analysis was conducted using STATA 8.0 supplemented by ‘Metan’ software.Results:Twenty studies were retrieved. All measures were expressed in volumes apart from the corpus callosum (area). Subjects with VCFS showed reduced total brain volume (N=156 versus N=138), ([ES]=1.04, 95% CI:1.40, -0.67), with no significant heterogeneity or publication bias. This reduction was reflected in total hemisphere grey and white matter. Prefrontal, parieto-occipital and temporal cortices appeared to be particularly affected. A number of sub-cortical areas also showed decreased volumes including the hippocampus and putamen. In contrast, callosal areas were increased in VCFS.Conclusion:In relation to controls, subjects with VCFS present with an overall reduction in brain volumes and specific abnormalities in multiple cortical and subcortical brain regions. These abnormalities may explain partly why VCFS is associated with a greatly increased risk of psychosis and other psychiatric disorders.

scholarly journals Enhancer locus in ch14q23.1 modulates brain asymmetric temporal regions involved in language processing

2019 ◽  
Author(s):  
Yann Le Guen ◽  
François Leroy ◽  
Cathy Philippe ◽  
Jean-François Mangin ◽  
Ghislaine Dehaene-Lambertz ◽  
...  
Keyword(s):  
Language Processing ◽  
Homo Sapiens ◽  
Brain Mri ◽  
Brain Structures ◽  
Brain Regions ◽  
Genomic Region ◽  
Uk Biobank ◽  
Human Communication ◽  
Discovery Sample ◽  
The Uk

AbstractIdentifying the genes that contribute to the variability in brain regions involved in language processing may shed light on the evolution of brain structures essential to the emergence of language in Homo sapiens. The superior temporal asymmetrical pit (STAP), which is not observed in chimpanzees, represents an ideal phenotype to investigate the genetic variations that support human communication. The left STAP depth was significantly associated with a predicted enhancer annotation located in the 14q23.1 locus, between DACT1 and KIAA0586, in the UK Biobank British discovery sample (N=16,515). This association was replicated in the IMAGEN cohort (N=1,726) and the UK Biobank non-British validation sample (N=2,161). This genomic region was also associated to a lesser extent with the right STAP depth and the formation of sulcal interruptions, plis de passage, in the bilateral STAP but not with other structural brain MRI phenotypes, highlighting its notable association with the superior temporal regions. Diffusion MRI emphasized an association with the fractional anisotropy of the left auditory fibers of the corpus callosum and with networks involved in linguistic processing in resting-state functional MRI. Overall, this evidence demonstrates a specific relationship between this locus and the establishment of the superior temporal regions that support human communication.

scholarly journals Enhancer Locus in ch14q23.1 Modulates Brain Asymmetric Temporal Regions Involved in Language Processing

2020 ◽  
Vol 30 (10) ◽  
pp. 5322-5332
Author(s):  
Yann Le Guen ◽  
François Leroy ◽  
Cathy Philippe ◽  
Jean-François Mangin ◽  
Ghislaine Dehaene-Lambertz ◽  
...  
Keyword(s):  
Language Processing ◽  
Homo Sapiens ◽  
Brain Mri ◽  
Brain Structures ◽  
Brain Regions ◽  
Genomic Region ◽  
Uk Biobank ◽  
Human Communication ◽  
Discovery Sample ◽  
The Uk

Abstract Identifying the genes that contribute to the variability in brain regions involved in language processing may shed light on the evolution of brain structures essential to the emergence of language in Homo sapiens. The superior temporal asymmetrical pit (STAP), which is not observed in chimpanzees, represents an ideal phenotype to investigate the genetic variations that support human communication. The left STAP depth was significantly associated with a predicted enhancer annotation located in the 14q23.1 locus, between DACT1 and KIAA0586, in the UK Biobank British discovery sample (N = 16 515). This association was replicated in the IMAGEN cohort (N = 1726) and the UK Biobank non-British validation sample (N = 2161). This genomic region was also associated to a lesser extent with the right STAP depth and the formation of sulcal interruptions, “plis de passage,” in the bilateral STAP but not with other structural brain MRI phenotypes, highlighting its notable association with the superior temporal regions. Diffusion MRI emphasized an association with the fractional anisotropy of the left auditory fibers of the corpus callosum and with networks involved in linguistic processing in resting-state functional MRI. Overall, this evidence demonstrates a specific relationship between this locus and the establishment of the superior temporal regions that support human communication.

scholarly journals Neuroanatomical Norms in the UK Biobank: The Impact of Allometric Scaling, Sex, and Age.

2020 ◽  
Author(s):  
Camille WILLIAMS ◽  
Hugo Peyre ◽  
Roberto Toro ◽  
Franck Ramus
Keyword(s):  
Sex Differences ◽  
Large Scale ◽  
Common Property ◽  
Brain Size ◽  
Uk Biobank ◽  
Aging Effects ◽  
Total Brain Volume ◽  
Brain Volumes ◽  
The Uk ◽  
The Impact

Few neuroimaging studies are sufficiently large to adequately describe population-wide variations. This study's primary aim was to generate neuroanatomical norms and individual markers that consider age, sex, and brain size, from 629 cerebral measures in the UK Biobank (N = 40 028). The secondary aim was to examine the effects and interactions of sex, age, and brain allometry - the non-linear scaling relationship between a region and brain size (e.g., Total Brain Volume) across cerebral measures. Allometry was a common property of brain volumes, thicknesses, and surface areas (83%) and was largely stable across age and sex. Sex differences occurred in 67% of cerebral measures (median |std. beta|= 0.13): 37% of regions were larger in males and 30% in females. Brain measures (49%) generally decreased with age, although aging effects varied across regions and sexes. While models with an allometric or linear covariate adjustment for brain size yielded similar significant effects, omitting brain allometry influenced reported sex differences in variance. This large scale-study advances our understanding of age, sex, and brain allometry's impact on brain structure and provides data for future UK Biobank studies to identify the cerebral regions that covary with specific phenotypes, independently of sex, age, and brain size.

scholarly journals Correlating MRI-Based Brain Volumetry and Cognitive Assessment in Down Syndrome Patients

2021 ◽  
Author(s):  
Osama Hamadelseed ◽  
Thomas Skutella
Keyword(s):  
Down Syndrome ◽  
Cognitive Abilities ◽  
Cognitive Assessment ◽  
Brain Structures ◽  
Brain Regions ◽  
Cognitive Behavioral ◽  
Brain Volumetry ◽  
Neuropsychological Profile ◽  
Magnetic Resonance Imaging Mri ◽  
And Gender

Abstract INTRODUCTION: Down syndrome (DS) is the most common genetic cause of intellectual disability. Here, we use magnetic resonance imaging (MRI) on children and adults with DS to characterize changes in the volume of specific brain structures involved in memory and language and their relationship to features of cognitive-behavioral phenotypes.METHODS: Thirteen children and adults with the DS phenotype and 12 age- and gender-matched healthy controls were analyzed by MRI and underwent a psychological evaluation for language and cognitive abilities.RESULTS: The neuropsychological profile of DS patients showed deficits in different cognition and language domains in correlation with reduced volumes of specific regional and subregional brain structures.CONCLUSIONS: The memory functions and language skills affected in our DS patients correlate significantly with the reduced volume of specific brain regions, allowing us to understand DS's cognitive-behavioral phenotype. Our results provide an essential basis for early intervention and the design of rehabilitation management protocols.

scholarly journals Polygenic risk for schizophrenia and subcortical brain anatomy in the UK Biobank cohort

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Steluta Grama ◽  
Isabella Willcocks ◽  
John J. Hubert ◽  
Antonio F. Pardiñas ◽  
Sophie E. Legge ◽  
...  
Keyword(s):  
Multiple Testing ◽  
Specific Gene ◽  
Whole Genome ◽  
Uk Biobank ◽  
Abnormal Behaviour ◽  
Brain Volumes ◽  
Polygenic Risk ◽  
Subcortical Brain ◽  
Gene Sets ◽  
The Uk

Abstract Research has shown differences in subcortical brain volumes between participants with schizophrenia and healthy controls. However, none of these differences have been found to associate with schizophrenia polygenic risk. Here, in a large sample (n = 14,701) of unaffected participants from the UK Biobank, we test whether schizophrenia polygenic risk scores (PRS) limited to specific gene-sets predict subcortical brain volumes. We compare associations with schizophrenia PRS at the whole genome level (‘genomic’, including all SNPs associated with the disorder at a p-value threshold < 0.05) with ‘genic’ PRS (based on SNPs in the vicinity of known genes), ‘intergenic’ PRS (based on the remaining SNPs), and genic PRS limited to SNPs within 7 gene-sets previously found to be enriched for genetic association with schizophrenia (‘abnormal behaviour,’ ‘abnormal long-term potentiation,’ ‘abnormal nervous system electrophysiology,’ ‘FMRP targets,’ ‘5HT2C channels,’ ‘CaV2 channels’ and ‘loss-of-function intolerant genes’). We observe a negative association between the ‘abnormal behaviour’ gene-set PRS and volume of the right thalamus that survived correction for multiple testing (ß = −0.031, pFDR = 0.005) and was robust to different schizophrenia PRS p-value thresholds. In contrast, the only association with genomic PRS surviving correction for multiple testing was for right pallidum, which was observed using a schizophrenia PRS p-value threshold < 0.01 (ß = −0.032, p = 0.0003, pFDR = 0.02), but not when using other PRS P-value thresholds. We conclude that schizophrenia PRS limited to functional gene sets may provide a better means of capturing differences in subcortical brain volume than whole genome PRS approaches.

scholarly journals Relationship Between Verbal Fluency Performance, Fight Exposure, and Subcortical Region Brain Volumes in Professional Fighters

2019 ◽  
Vol 34 (5) ◽  
pp. 735-735
Author(s):  
L Bennett ◽  
C Bernick ◽  
S Banks
Keyword(s):  
Verbal Fluency ◽  
Brain Structures ◽  
Brain Regions ◽  
Health Study ◽  
Semantic Fluency ◽  
Cognitive Changes ◽  
Brain Volumes ◽  
Subcortical Brain ◽  
Subcortical Region ◽  
Subcortical Brain Structures

Abstract Purpose Verbal fluency performance has been shown to be sensitive to preclinical cognitive changes in neurodegenerative diseases and may detect early, trauma-related cognitive and volumetric changes amongst professional fighters. Baseline verbal fluency performance and volumes of relevant subcortical brain structures were expected to decline as number of professional fights (NoPF) increased, while controlling for education. Methods Baseline letter and semantic fluency performance, NoPF, and structural brain imaging from 548 active and retired fighters who participated in the Professional Fighters Brain Health Study were considered. ANCOVAs were conducted to assess differences in verbal fluency performance by NOPF, while controlling for years of education. Number of professional fights were stratified into low (0-20 fights), medium (21-40 fights), and high (41 or more fights). Results Semantic fluency performance differed across the three levels of NoPF (F(2, 542)=4.56; p<.02). In addition, significant positive correlations between semantic fluency performance and volumes in the following regions were observed: left thalamus, left putamen, left pallidum, bilateral caudates, bilateral amygdalae, bilateral hippocampi, and bilateral accumbens (all p’s<.05). In contrast, letter fluency performance was not significantly associated with NoPF or volumes of relevant subcortical brain structures (all p’s>.05). Conclusion Semantic fluency may be low-cost, easy-to-administer harbinger of emerging cognitive dysfunction and lower volumes in related subcortical brain regions. Additional assessment of clinical utility is necessary.

scholarly journals Canine cognitive dysfunction (CCD) patients have reduced total hippocampal volume compared with aging control dogs: a comparative MRI study

2020 ◽  
Author(s):  
Curtis Wells Dewey ◽  
Mark Rishniw ◽  
Simon Platt ◽  
Kelsey Robinson ◽  
Joseph Sackman ◽  
...  
Keyword(s):  
Cognitive Dysfunction ◽  
Hippocampal Volume ◽  
Hippocampal Atrophy ◽  
Pathological Feature ◽  
Volumetric Mri ◽  
Total Brain Volume ◽  
Brain Volumes ◽  
Disease Mechanisms ◽  
Total Brain ◽  
Mri Study

AbstractHippocampal atrophy is a key pathologic and MRI feature of human Alzheimer’s disease (AD). Hippocampal atrophy has not been documented via MRI in canine cognitive dysfunction (CCD), which is considered the dog model of human AD. The purpose of this retrospective comparative volumetric MRI study was to compare total hippocampal volumes between successfully aging (control) dogs and dogs diagnosed with CCD. Mimics® software was used to derive total hippocampal volumes and total brain volumes from the MRI studies of 42 aging dogs (≥ 9 years): 16 dogs diagnosed with CCD and 26 successfully aging controls. Total hippocampal volume normalized to total brain volume was significantly less for CCD patients compared with control dogs (p=0.04). The results of this study suggest that-similar to human AD-hippocampal atrophy is a pathological feature of CCD. This finding has potential importance for both investigating disease mechanisms related to dementia as well as future hippocampal-targeted therapies.

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