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Low-field portable magnetic resonance imaging (MRI) scanners are more accessible, cost-effective, sustainable with lower carbon emissions than superconducting high-field MRI scanners. However, the images produced have relatively poor image quality, lower signal-to-noise ratio, and limited spatial resolution. This study develops and investigates an image-to-image translation deep learning model, LoHiResGAN, to enhance the quality of low-field (64mT) MRI scans and generate synthetic high-field (3T) MRI scans. We employed a paired dataset comprising T1- and T2-weighted MRI sequences from the 64mT and 3T and compared the performance of the LoHiResGAN model with other state-of-the-art models, including GANs, CycleGAN, U-Net, and cGAN. Our proposed method demonstrates superior performance in terms of image quality metrics, such as normalized root-mean-squared error, structural similarity index measure, peak signal-to-noise ratio, and perception-based image quality evaluator. Additionally, we evaluated the accuracy of brain morphometry measurements for 33 brain regions across the original 3T, 64mT, and synthetic 3T images. The results indicate that the synthetic 3T images created using our proposed LoHiResGAN model significantly improve the image quality of low-field MRI data compared to other methods (GANs, CycleGAN, U-Net, cGAN) and provide more consistent brain morphometry measurements across various brain regions in reference to 3T. Synthetic images generated by our method demonstrated high quality both quantitatively and qualitatively. However, additional research, involving diverse datasets and clinical validation, is necessary to fully understand its applicability for clinical diagnostics, especially in settings where high-field MRI scanners are less accessible. [ABSTRACT FROM AUTHOR]

We describe the Queensland Twin Adolescent Brain (QTAB) dataset and provide a detailed methodology and technical validation to facilitate data usage. The QTAB dataset comprises multimodal neuroimaging, as well as cognitive and mental health data collected in adolescent twins over two sessions (session 1: N = 422, age 9–14 years; session 2: N = 304, 10–16 years). The MRI protocol consisted of T1-weighted (MP2RAGE), T2-weighted, FLAIR, high-resolution TSE, SWI, resting-state fMRI, DWI, and ASL scans. Two fMRI tasks were added in session 2: an emotional conflict task and a passive movie-watching task. Outside of the scanner, we assessed cognitive function using standardised tests. We also obtained self-reports of symptoms for anxiety and depression, perceived stress, sleepiness, pubertal development measures, and risk and protective factors. We additionally collected several biological samples for genomic and metagenomic analysis. The QTAB project was established to promote health-related research in adolescence. [ABSTRACT FROM AUTHOR]

People living with Parkinson's disease (PD) with poor verbal fluency have an increased risk of developing dementia. This study examines the neural mechanisms underpinning semantic fluency deficits in patients with PD with mild cognitive impairment (PD-MCI) compared to those without MCI (PD-NC) and control participants without PD (non-PD). Thirty-seven (37) participants with PD completed a cognitive assessment battery to identify MCI (13 PD-MCI). Twenty sex- and age-matched non-PD patients also participated. Participants were scanned (3T Siemens PRISMA) while performing semantic fluency, semantic switching, and automatic speech tasks. The number of responses and fMRI data for semantic generation and semantic switching were analyzed. Participants also completed a series of verbal fluency tests outside the scanner, including letter fluency. Participants with PD-MCI performed significantly worse than PD-NC and non-PD participants during semantic fluency and semantic switching tasks. PD-MCI patients showed greater activity in the right angular gyrus than PD-NC and non-PD patients during semantic switching. Increased right angular activity correlated with worse verbal fluency performance outside the scanner. Our study showed that the PD-MCI group performed worse on semantic fluency than either the PD-NC or non-PD groups. Increased right angular gyrus activity in participants with PD-MCI during semantic switching suggests early compensatory mechanisms, predicting the risk of future dementia in PD. [ABSTRACT FROM AUTHOR]

Mesial temporal lobe epilepsy with hippocampal sclerosis and a history of febrile seizures is associated with common variation at rs7587026, located in the promoter region of SCN1A. We sought to explore possible underlying mechanisms. SCN1A expression was analysed in hippocampal biopsy specimens of individuals with mesial temporal lobe epilepsy with hippocampal sclerosis who underwent surgical treatment, and hippocampal neuronal cell loss was quantitatively assessed using immunohistochemistry. In healthy individuals, hippocampal volume was measured using MRI. Analyses were performed stratified by rs7587026 type. To study the functional consequences of increased SCN1A expression, we generated, using transposon-mediated bacterial artificial chromosome transgenesis, a zebrafish line expressing exogenous scn1a, and performed EEG analysis on larval optic tecta at 4 day post-fertilization. Finally, we used an in vitro promoter analysis to study whether the genetic motif containing rs7587026 influences promoter activity. Hippocampal SCN1A expression differed by rs7587026 genotype (Kruskal–Wallis test P = 0.004). Individuals homozygous for the minor allele showed significantly increased expression compared to those homozygous for the major allele (Dunn's test P = 0.003), and to heterozygotes (Dunn's test P = 0.035). No statistically significant differences in hippocampal neuronal cell loss were observed between the three genotypes. Among 597 healthy participants, individuals homozygous for the minor allele at rs7587026 displayed significantly reduced mean hippocampal volume compared to major allele homozygotes (Cohen's D = − 0.28, P = 0.02), and to heterozygotes (Cohen's D = − 0.36, P = 0.009). Compared to wild type, scn1lab-overexpressing zebrafish larvae exhibited more frequent spontaneous seizures [one-way ANOVA F(4,54) = 6.95 (P < 0.001)]. The number of EEG discharges correlated with the level of scn1lab overexpression [one-way ANOVA F(4,15) = 10.75 (P < 0.001]. Finally, we showed that a 50 bp promoter motif containing rs7587026 exerts a strong regulatory role on SCN1A expression, though we could not directly link this to rs7587026 itself. Our results develop the mechanistic link between rs7587026 and mesial temporal lobe epilepsy with hippocampal sclerosis and a history of febrile seizures. Furthermore, we propose that quantitative precision may be important when increasing SCN1A expression in current strategies aiming to treat seizures in conditions involving SCN1A haploinsufficiency, such as Dravet syndrome. [ABSTRACT FROM AUTHOR]

Introduction: Preliminary evidence has demonstrated a link between anxiety and memory impairment in Parkinson's disease (PD). This study further investigated this association using the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria for anxiety disorders and a standardized cognitive test battery. Methods: A convenience sample of 89 PD patients without dementia was recruited from neurology outpatient clinics. A cross-sectional design was applied. Participants completed two semi-structured interviews. The first interview diagnosed DSM-5 anxiety disorders, unspecified anxiety disorder, and no anxiety. The second interview applied a neurocognitive test battery comprising two tests for each domain. Logistic regression models compared cognitive characteristics associated with anxiety disorders to no anxiety. Results: Clinically significant anxiety was associated with immediate verbal memory impairment compared to the no anxiety group (OR, 95% CI 0.52, 0.30–0.89; p = 0.018), controlling for sex and age. The anxiety disorders group demonstrated immediate (OR, 95% CI 0.46, 0.26–0.83; p = 0.010) and delayed (OR, 95% CI 0.63, 0.40–0.99; p = 0.047) verbal memory impairments compared to those without anxiety, controlling for sex and age. This association remained for immediate (OR, 95% CI 0.43, 0.22–0.84; p = 0.013), but not delayed verbal memory impairment (OR, 95% CI 0.65, 0.39–1.06; p = 0.081) when additionally controlling for disease severity, education and levodopa dose. Conclusion: These findings present first evidence that anxiety disorders are associated with verbal memory impairment in PD and have implications for the management and treatment of anxiety in PD. [ABSTRACT FROM AUTHOR]

A small number of studies have described verbal selection deficits in Parkinson's disease (PD) when selection must occur among competing alternatives. However, these studies have largely focused on single-word processing, or have utilised sentence stems that carry high contextual constraint, thus reducing selection demands. The present study aimed to determine the influence of variable contextual constraint on the selection of a verbal response in PD. This was achieved using an adaption of the Hayling Sentence Completion Task whereby PD participants and matched controls were required to provide a single word to complete a cloze probability sentence stem that carried a low, medium, or high degree of contextual constraint. Results revealed no main effect of group in terms of response time or accuracy, though a group-by-condition interaction in accuracy was noted. This was characterised by a significant difference in accuracy between low and medium levels of constraint for control participants, but no significant difference for the PD group. Functional MRI data revealed marked between-group differences in underlying neural activity. The control group showed increased recruitment of the dorsal striatum and the vlPFC under conditions that placed greater demands upon selection (i.e. low and medium constraint), and greater activity overall in the left dlPFC and right vlPFC. However, in the PD group, behavioural performance appeared to be maintained despite underlying decreases in frontostriatal activity, suggesting other compensatory mechanisms that may include changes in functional connectivity or an over-medication effect in frontal networks in response to loss of signalling in cortico-subcortical pathways. [ABSTRACT FROM AUTHOR]

Introduction: The concept of Mild Cognitive Impairment (MCI) in Parkinson's disease (PD) has shown the potential for identifying at-risk dementia patients. Identifying subtypes of MCI is likely to assist therapeutic discoveries and better clinical management of patients with PD (PWP). Recent cluster-based approaches have demonstrated dominance in memory and executive impairment in PD. The present study will further explore the role of memory and executive impairment and associated clinical features in non-demented PWP. Method: A K-means cluster analysis was performed on ten "frontal" and "posterior" cognitive variables derived from a dataset of 85 non-demented PWP. The resulting cluster structure was chosen based on quantitative, qualitative, theoretical, and clinical validity. Cluster profiles were then created through statistical analysis of cognitive and clinical/demographic variables. A descriptive analysis of each cluster's performance on a comprehensive PD-MCI diagnostic battery was also explored. Results: The resulting cluster structure revealed four distinct cognitive phenotypes: (1) frontal-dominant impairment; (2) posterior-cortical-dominant impairment; (3) global impairment, and (4) cognitively intact. Demographic profiling revealed significant differences in the age, gender split, global cognitive ability, and motor symptoms between these clusters. However, there were no significant differences between the clusters on measures of depression, apathy, and anxiety. Conclusion: These results validate the existence of distinct cognitive phenotypes within PD-MCI and encourage future research into their clinical trajectory and neuroimaging correlates. [ABSTRACT FROM AUTHOR]

Comparing estimates of the amount of genetic and environmental variance for different brain structures may elucidate differences in the genetic architecture or developmental constraints of individual brain structures. However, most studies compare estimates of relative genetic (heritability) and environmental variance in brain structure, which do not reflect differences in absolute variance between brain regions. Here we used a population sample of young adult twins and singleton siblings of twins (n = 791; M = 23 years, Queensland Twin IMaging study) to estimate the absolute genetic and environmental variance, standardised by the phenotypic mean, in the size of cortical, subcortical, and ventricular brain structures. Mean-standardised genetic variance differed widely across structures [23.5-fold range 0.52% (hippocampus) to 12.28% (lateral ventricles)], but the range of estimates within cortical, subcortical, or ventricular structures was more moderate (two to fivefold range). There was no association between mean-standardised and relative measures of genetic variance (i.e., heritability) in brain structure volumes. We found similar results in an independent sample (n = 1075, M = 29 years, Human Connectome Project). These findings open important new lines of enquiry: namely, understanding the bases of these variance patterns, and their implications regarding the genetic architecture, evolution, and development of the human brain. [ABSTRACT FROM AUTHOR]

Parkinson's disease (PD) is frequently accompanied by cognitive and neuropsychiatric symptoms including impairments in affective processing. Despite this, mechanisms underlying vulnerability to deficits in affective processing remain unclear. In this study, we utilized functional Magnetic Resonance Imaging (fMRI) and an Affective Go-NoGo paradigm, to examine the neural correlates of emotional valence processing in PD. Results suggest that PD is associated with aberrant processing of emotional valence in subcortical limbic structures. Specifically, we found significant group-by-valence interactions in the ventral striatum and amygdala in response to words of differing emotional valence. Our findings contribute to a broader understanding of affective processing in PD and may provide insights into the mechanisms underlying vulnerability to mood disorders in PD. [ABSTRACT FROM AUTHOR]

In GWAS of imaging phenotypes (e.g., by the ENIGMA and CHARGE consortia), the growing number of phenotypes considered presents a statistical challenge that other fields are not experiencing (e.g. psychiatry and the Psychiatric Genetics Consortium). However, the multivariate nature of MRI measurements may also be an advantage as many of the MRI phenotypes are correlated and multivariate methods could be considered. Here, we compared the statistical power of a multivariate GWAS versus the current univariate approach, which consists of multiple univariate analyses. To do so, we used results from twin models to estimate pertinent vectors of SNP effect sizes on brain imaging phenotypes, as well as the residual correlation matrices, necessary to estimate analytically the statistical power. We showed that for subcortical structure volumes and hippocampal subfields, a multivariate GWAS yields similar statistical power to the current univariate approach. Our analytical approach is as accurate but ~ 1000 times faster than simulations and we have released the code to facilitate the investigation of other scenarios, may they be outside the field of imaging genetics. [ABSTRACT FROM AUTHOR]

Background: Age-related cognitive decline is a worldwide challenge, highlighting the need for safe, effective interventions that benefit cognition in older adults. Harnessing the immediate and long-term pleiotropic effects of aerobic exercise is one approach that has gained increasing interest.Objective: The aim of this review is to provide knowledge on the immediate effects of acute aerobic exercise on cognitive function of healthy older adults and to assess the methodological quality of studies investigating these effects.Methods: A database search in PubMed, CINAHL, Cochrane Central Register of Controlled Trials, Embase, PsycINFO, Web of Science, ClinicalTrials.gov and Google Scholar was conducted using a systematic search strategy.Results: Fifteen studies were identified and cognitive domains investigated included executive function and visual perception. Results from 14 of 15 studies showed that an acute bout of aerobic exercise can enhance at least one subsequent cognitive performance of healthy older adults when measured within 15 min post-exercise.Conclusion: The small number of studies available, the limited domains of cognition investigated, the great variability between research protocols, and the low overall quality rating limits the conclusions that can be drawn. More comprehensive randomised controlled trials are needed to address these limitations and verify the potential benefits of acute aerobic exercise. [ABSTRACT FROM AUTHOR]

Deficits in lentiform nucleus volume and morphometry are implicated in a number of genetically influenced disorders, including Parkinson's disease, schizophrenia, and ADHD. Here we performed genome-wide searches to discover common genetic variants associated with differences in lentiform nucleus volume in human populations. We assessed structural MRI scans of the brain in two large genotyped samples: the Alzheimer's Disease Neuroimaging Initiative (ADNI; N = 706) and the Queensland Twin Imaging Study (QTIM; N = 639). Statistics of association from each cohort were combined meta-analytically using a fixed-effects model to boost power and to reduce the prevalence of false positive findings. We identified a number of associations in and around the flavin-containing monooxygenase (FMO) gene cluster. The most highly associated SNP, rs1795240, was located in the FMO3 gene; after meta-analysis, it showed genome-wide significant evidence of association with lentiform nucleus volume (P MA  = 4.79 × 10(-8)). This commonly-carried genetic variant accounted for 2.68 % and 0.84 % of the trait variability in the ADNI and QTIM samples, respectively, even though the QTIM sample was on average 50 years younger. Pathway enrichment analysis revealed significant contributions of this gene to the cytochrome P450 pathway, which is involved in metabolizing numerous therapeutic drugs for pain, seizures, mania, depression, anxiety, and psychosis. The genetic variants we identified provide replicated, genome-wide significant evidence for the FMO gene cluster's involvement in lentiform nucleus volume differences in human populations. [ABSTRACT FROM AUTHOR]

Several common genetic variants have recently been discovered that appear to influence white matter microstructure, as measured by diffusion tensor imaging (DTI). Each genetic variant explains only a small proportion of the variance in brain microstructure, so we set out to explore their combined effect on the white matter integrity of the corpus callosum. We measured six common candidate single-nucleotide polymorphisms (SNPs) in the COMT, NTRK1, BDNF, ErbB4, CLU, and HFE genes, and investigated their individual and aggregate effects on white matter structure in 395 healthy adult twins and siblings (age: 20-30 years). All subjects were scanned with 4-tesla 94-direction high angular resolution diffusion imaging. When combined using mixed-effects linear regression, a joint model based on five of the candidate SNPs (COMT, NTRK1, ErbB4, CLU, and HFE) explained ∼6% of the variance in the average fractional anisotropy (FA) of the corpus callosum. This predictive model had detectable effects on FA at 82% of the corpus callosum voxels, including the genu, body, and splenium. Predicting the brain's fiber microstructure from genotypes may ultimately help in early risk assessment, and eventually, in personalized treatment for neuropsychiatric disorders in which brain integrity and connectivity are affected. [ABSTRACT FROM AUTHOR]

Cortical folds help drive the parcellation of the human cortex into functionally specific regions. Variations in the length, depth, width, and surface area of these sulcal landmarks have been associated with disease, and may be genetically mediated. Before estimating the heritability of sulcal variation, the extent to which these metrics can be reliably extracted from in-vivo MRI must be established. Using four independent test-retest datasets, we found high reliability across the brain (intraclass correlation interquartile range: 0.65–0.85). Heritability estimates were derived for three family-based cohorts using variance components analysis and pooled (total N > 3000); the overall sulcal heritability pattern was correlated to that derived for a large population cohort (N > 9000) calculated using genomic complex trait analysis. Overall, sulcal width was the most heritable metric, and earlier forming sulci showed higher heritability. The inter-hemispheric genetic correlations were high, yet select sulci showed incomplete pleiotropy, suggesting hemisphere-specific genetic influences. Fabrizio Pizzagalli et al. study the genetics factors that regulate cortical folding patterning in the brain. They use in vivo brain MRI datasets from around the world and report the reliability and heritability of sulcal morphometric characteristics for 61 sulci per hemisphere of the human brain. They uncover hemisphere-specific genetic influences on the cerebral cortex. [ABSTRACT FROM AUTHOR]