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Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease. Genome-wide analysis identifies variants associated with the volume of seven different subcortical brain regions defined by magnetic resonance imaging. Implicated genes are involved in neurodevelopmental and synaptic signaling pathways.

Open scholarship has transformed research, and introduced a host of new terms in the lexicon of researchers. The ‘Framework for Open and Reproducible Research Teaching’ (FORRT) community presents a crowdsourced glossary of open scholarship terms to facilitate education and effective communication between experts and newcomers.

Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging. Cortex morphology varies with age, cognitive function, and in neurological and psychiatric diseases. Here the authors report 160 genome-wide significant associations with thickness, surface area and volume of the total cortex and 34 cortical regions from a GWAS meta-analysis in 22,824 adults.

The inconsistent response to transcranial electric stimulation in the stroke population is attributed to, among other factors, unknown effects of stroke lesion conductivity on stimulation strength at the targeted brain areas. Volume conduction models are promising tools to determine optimal stimulation settings. However, stroke lesion conductivity is often not considered in these models as a source of inter-subject variability. The goal of this study is to propose a method that combines MRI, EEG, and transcranial stimulation to estimate the conductivity of cortical stroke lesions experimentally. In this simulation study, lesion conductivity was estimated from scalp potentials during transcranial electric stimulation in 12 chronic stroke patients. To do so, first, we determined the stimulation configuration where scalp potentials are maximally affected by the lesion. Then, we calculated scalp potentials in a model with a fixed lesion conductivity and a model with a randomly assigned conductivity. To estimate the lesion conductivity, we minimized the error between the two models by varying the conductivity in the second model. Finally, to reflect realistic experimental conditions, we test the effect rotation of measurement electrode orientation and the effect of the number of electrodes used. We found that the algorithm converged to the correct lesion conductivity value when noise on the electrode positions was absent for all lesions. Conductivity estimation error was below 5% with realistic electrode coregistration errors of 0.1° for lesions larger than 50 ml. Higher lesion conductivities and lesion volumes were associated with smaller estimation errors. In conclusion, this method can experimentally estimate stroke lesion conductivity, improving the accuracy of volume conductor models of stroke patients and potentially leading to more effective transcranial electric stimulation configurations for this population.

Increasing numbers of children and adolescents are being diagnosed with nonverbal learning disabilities (NLD), yet clinicians and educators have few scientific resources to guide assessment and intervention. This book presents up-to-date knowledge on the nature of NLD and how to differentiate it from DSM-5 disorders such as autism spectrum disorder and developmental coordination disorder. Effective strategies for helping K-12 students and their families address the challenges of NLD in and outside of the classroom are illustrated with vivid case material. The authors thoughtfully consider controversies surrounding NLD, discuss why the diagnosis is not included in the current DSM and ICD classification systems, and identify important directions for future research.

A radically integrative account of visual perception, grounded in neuroscience but drawing on insights from philosophy and psychology. How do we gain access to things as they are? Although we routinely take our self-made pictures to be veridical representations of reality, in actuality we choose (albeit unwittingly) or construct what we see. By movements of the eyes, the direction of our gaze, we create meaning. In Brain and the Gaze, Jan Lauwereyns offers a novel reformulation of perception and its neural underpinnings, focusing on the active nature of perception. In his investigation of active perception and its brain mechanisms, Lauwereyns offers the gaze as the principal paradigm for perception. In a radically integrative account, grounded in neuroscience but drawing on insights from philosophy and psychology, he discusses the dynamic and constrained nature of perception; the complex information processing at the level of the retina; the active nature of vision; the intensive nature of representations; the gaze of others as visual stimulus; and the intentionality of vision and consciousness. An engaging point of entry to the cognitive neuroscience of perception, written for neuroscientists but illuminated by insights from thinkers ranging from William James to Slavoj Žižek, Brain and the Gaze will give new impetus to research and theory in the field.

In 1978, when the Task Panel report to the U.S. President's Commission on Mental Health emphasized the importance of improving health care and easing the pain of those suffering from emotional distress syndromes including loneliness, few anticipated that this issue would still need to be addressed 40 years later. In 2011, a meta-analysis on the efficacy of treatments to reduce loneliness identified a need for well-controlled randomized clinical trials focusing on the rehabilitation of maladaptive social cognition. We review assessments of loneliness and build on this meta-analysis to discuss the efficacy of various treatments for loneliness. With the advances made over the past 5 years in the identification of the psychobiological and pharmaceutical mechanisms associated with loneliness and maladaptive social cognition, there is increasing evidence for the potential efficacy of integrated interventions that combine (social) cognitive behavioral therapy with short-term adjunctive pharmacological treatments.

Homozygous variants in PGAP1 (post-GPI attachment to proteins 1) have recently been identified in two families with developmental delay, seizures and/or spasticity. PGAP1 is a member of the glycosylphosphatidylinositol anchor biosynthesis and remodeling pathway and defects in this pathway are a subclass of congenital disorders of glycosylation. Here we performed whole-exome sequencing in an individual with cerebral visual impairment (CVI), intellectual disability (ID), and factor XII deficiency and revealed compound heterozygous variants in PGAP1, c.274_276del (p.(Pro92del)) and c.921_925del (p.(Lys308Asnfs*25)). Subsequently, PGAP1-deficient Chinese hamster ovary (CHO)-cell lines were transfected with either mutant or wild-type constructs and their sensitivity to phosphatidylinositol-specific phospholipase C (PI-PLC) treatment was measured. The mutant constructs could not rescue the PGAP1-deficient CHO cell lines resistance to PI-PLC treatment. In addition, lymphoblastoid cell lines (LCLs) of the affected individual showed no sensitivity to PI-PLC treatment, whereas the LCLs of the heterozygous carrier parents were partially resistant. In conclusion, we report novel PGAP1 variants in a boy with CVI and ID and a proven functional loss of PGAP1 and show, to our knowledge, for the first time this genetic association with CVI.

An account of the different ways in which things have become cognitive extensions of the human body, from prehistory to the present. An increasingly influential school of thought in cognitive science views the mind as embodied, extended, and distributed rather than brain-bound or “all in the head.” This shift in perspective raises important questions about the relationship between cognition and material culture, posing major challenges for philosophy, cognitive science, archaeology, and anthropology. In How Things Shape the Mind, Lambros Malafouris proposes a cross-disciplinary analytical framework for investigating the ways in which things have become cognitive extensions of the human body. Using a variety of examples and case studies, he considers how those ways might have changed from earliest prehistory to the present. Malafouris's Material Engagement Theory definitively adds materiality—the world of things, artifacts, and material signs—into the cognitive equation. His account not only questions conventional intuitions about the boundaries and location of the human mind but also suggests that we rethink classical archaeological assumptions about human cognitive evolution.

Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes.