News and Commentary Archive

Explore recent scientific discoveries and news as well as CLBB events, commentary, and press.


The speed of technology in neuroscience as it impacts ethical and just decisions in the legal system needs to be understood by lawyers, judges, public policy makers, and the general public. The Massachusetts General Hospital Center for Law, Brain, and Behavior is an academic and professional resource for the education, research, and understanding of neuroscience and the law. Read more

Reciprocal White Matter Alterations Due to 16p11.2 Chromosomal Deletions Versus Duplications

By Yi Shin Chang, Julia P. Owen, Nicholas J. Pojman, Tony Thieu, Polina Bukshpun, Mari L.J. Wakahiro, Elysa J. Marco, Jeffrey I. Berman, John E. Spiro, Wendy K. Chung, Randy L. Buckner, Timothy P.L. Roberts, Srikantan S. Nagarajan, Elliott H. Sherr, and Pratik Mukherjee | Human Brain Mapping | May 24, 2016


Copy number variants at the 16p11.2 chromosomal locus are associated with several neuropsychiatric disorders, including autism, schizophrenia, bipolar disorder, attention-deficit hyperactivity disorder, and speech and language disorders. A gene dosage dependence has been suggested, with 16p11.2 deletion carriers demonstrating higher body mass index and head circumference, and 16p11.2 duplication carriers demonstrating lower body mass index and head circumference. Here, we use diffusion tensor imaging to elucidate this reciprocal relationship in white matter organization, showing widespread increases of fractional anisotropy throughout the supratentorial white matter in pediatric deletion carriers and, in contrast, extensive decreases of white matter fractional anisotropy in pediatric and adult duplication carriers. We find associations of these white matter alterations with cognitive and behavioral impairments. We further demonstrate the value of imaging metrics for characterizing the copy number variant phenotype by employing linear discriminant analysis to predict the gene dosage status of the study subjects. These results show an effect of 16p11.2 gene dosage on white matter microstructure, and further suggest that opposite changes in diffusion tensor imaging metrics can lead to similar cognitive and behavioral deficits. Given the large effect sizes found in this study, our results support the view that specific genetic variations are more strongly associated with specific brain alterations than are shared neuropsychiatric diagnoses.

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Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers

By J.I. BermanD. ChudnovskayaL. BlaskeyE. KuschnerP. MukherjeeR. BucknerS. NagarajanW.K. ChungE.H. Sherr and T.P.L. Roberts | American Journal of Neuroradiology | February 11, 2016


BACKGROUND AND PURPOSE: Deletion and duplication of chromosome 16p11.2 (BP4–BP5) have been associated with developmental disorders such as autism spectrum disorders, and deletion subjects exhibit a large (20-ms) delay of the auditory evoked cortical response as measured by magnetoencephalography (M100 latency). The purpose of this study was to use a multimodal approach to test whether changes in white matter microstructure are associated with delayed M100 latency.

MATERIALS AND METHODS: Thirty pediatric deletion carriers, 9 duplication carriers, and 39 control children were studied with both magnetoencephalography and diffusion MR imaging. The M100 latency and auditory system DTI measures were compared between groups and tested for correlation.

RESULTS: In controls, white matter diffusivity significantly correlated with the speed of the M100 response. However, the relationship between structure and function appeared uncoupled in 16p11.2 copy number variation carriers. The alterations to auditory system white matter microstructure in the 16p11.2 deletion only partially accounted for the 20-ms M100 delay. Although both duplication and deletion groups exhibit abnormal white matter microstructure, only the deletion group has delayed M100 latency.

CONCLUSIONS: These results indicate that gene dosage impacts factors other than white matter microstructure, which modulate conduction velocity.

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Transcriptional Profiles of Supragranular-Enriched Genes Associate with Corticocortical Network Architecture in the Human Brain

By Fenna M. KrienenB. T. Thomas YeoTian GeRandy L. Buckner, and Chet C. Sherwood | PNAS | December 10, 2015


The human brain is patterned with disproportionately large, distributed cerebral networks that connect multiple association zones in the frontal, temporal, and parietal lobes. The expansion of the cortical surface, along with the emergence of long-range connectivity networks, may be reflected in changes to the underlying molecular architecture. Using the Allen Institute’s human brain transcriptional atlas, we demonstrate that genes particularly enriched in supragranular layers of the human cerebral cortex relative to mouse distinguish major cortical classes. The topography of transcriptional expression reflects large-scale brain network organization consistent with estimates from functional connectivity MRI and anatomical tracing in nonhuman primates. Microarray expression data for genes preferentially expressed in human upper layers (II/III), but enriched only in lower layers (V/VI) of mouse, were cross-correlated to identify molecular profiles across the cerebral cortex of postmortem human brains (n = 6). Unimodal sensory and motor zones have similar molecular profiles, despite being distributed across the cortical mantle. Sensory/motor profiles were anticorrelated with paralimbic and certain distributed association network profiles. Tests of alternative gene sets did not consistently distinguish sensory and motor regions from paralimbic and association regions: (i) genes enriched in supragranular layers in both humans and mice, (ii) genes cortically enriched in humans relative to nonhuman primates, (iii) genes related to connectivity in rodents, (iv) genes associated with human and mouse connectivity, and (v) 1,454 gene sets curated from known gene ontologies. Molecular innovations of upper cortical layers may be an important component in the evolution of long-range corticocortical projections.

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ENIGMA and the Individual: Predicting Factors that Affect the Brain in 35 Countries Worldwide

By Paul M. Thompson, Ole A. Andreassen, Alejandro Arias-Vasquez, Carrie E. Bearden, Premika S. Boedhoe, Rachel M. Brouwer, Randy L. Buckner, Jan K. Buitelaar, Kazima B. Bulaeva, Dara M. Cannon, Ronald A. Cohen, Patricia J. Conrod, Anders M. Dale, Ian J. Deary, Emily L. Dennis, Marcel A. de Reus, Sylvane Desrivieres, Danai Dima, Gary Donohoe, Simon E. Fisher, Jean-Paul Fouche, Clyde Francks, Sophia Frangou, Barbara Franke, Habib Ganjgahi, Hugh Garavan, David C. Glahn, and Hans J. Grabe | NeuroImage | December 4, 2015


In this review, we discuss recent work by the ENIGMA Consortium ( – a global alliance of over 500 scientists spread across 200 institutions in 35 countries collectively analyzing brain imaging, clinical, and genetic data. Initially formed to detect genetic influences on brain measures, ENIGMA has grown to over 30 working groups studying 12 major brain diseases by pooling and comparing brain data. In some of the largest neuroimaging studies to date – of schizophrenia and major depression – ENIGMA has found replicable disease effects on the brain that are consistent worldwide, as well as factors that modulate disease effects. In partnership with other consortia including ADNI, CHARGE, IMAGEN and others, ENIGMA’s genomic screens – now numbering over 30,000 MRI scans – have revealed at least 8 genetic loci that affect brain volumes. Downstream of gene findings, ENIGMA has revealed how these individual variants – and genetic variants in general – may affect both the brain and risk for a range of diseases. The ENIGMA consortium is discovering factors that consistently affect brain structure and function that will serve as future predictors linking individual brain scans and genomic data. It is generating vast pools of normative data on brain measures – from tens of thousands of people – that may help detect deviations from normal development or aging in specific groups of subjects. We discuss challenges and opportunities in applying these predictors to individual subjects and new cohorts, as well as lessons we have learned in ENIGMA’s efforts so far.

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Prospective Motion Correction with Volumetric Navigators (vNavs) Reduces the Bias and Variance in Brain Morphometry Induced by Subject Motion

By M. Dylan Tisdall, Martin Reuter, Abid Qureshi, Randy L. Buckner, Bruce Fischl, and André J.W. van der Kouwe | NeuroImage | December 2, 2015


Recent work has demonstrated that subject motion produces systematic biases in the metrics computed by widely used morphometry software packages, even when the motion is too small to produce noticeable image artifacts. In the common situation where the control population exhibits different behaviors in the scanner when compared to the experimental population, these systematic measurement biases may produce significant confounds for between-group analyses, leading to erroneous conclusions about group differences. While previous work has shown that prospective motion correction can improve perceived image quality, here we demonstrate that, in healthy subjects performing a variety of directed motions, the use of the volumetric navigator (vNav) prospective motion correction system significantly reduces the motion-induced bias and variance in morphometry.

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