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van der Meer, D., Sønderby, I. E., Kaufmann, T., Walters, G. B., Abdellaoui, A., Ames, D., . . . Andreassen, O. A. (2020). Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition. JAMA psychiatry, 77(4), 420-430
Open this publication in new window or tab >>Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition
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2020 (English)In: JAMA psychiatry, ISSN 2168-6238, E-ISSN 2168-622X, Vol. 77, no 4, p. 420-430Article in journal (Refereed) Published
Abstract [en]

Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities.

Objective: To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance.

Design, Setting, and Participants: In this genetic association study, T1-weighted brain magnetic resonance imaging were combined with genetic data from the ENIGMA-CNV consortium and the UK Biobank, with a replication cohort from Iceland. In total, 203 deletion carriers, 45 247 noncarriers, and 306 duplication carriers were included. Data were collected from August 2015 to April 2019, and data were analyzed from September 2018 to September 2019.

Main Outcomes and Measures: The associations of the CNV with global and regional measures of surface area and cortical thickness as well as subcortical volumes were investigated, correcting for age, age2, sex, scanner, and intracranial volume. Additionally, measures of cognitive ability were analyzed in the full UK Biobank cohort.

Results: Of 45 756 included individuals, the mean (SD) age was 55.8 (18.3) years, and 23 754 (51.9%) were female. Compared with noncarriers, deletion carriers had a lower surface area (Cohen d = -0.41; SE, 0.08; P = 4.9 × 10-8), thicker cortex (Cohen d = 0.36; SE, 0.07; P = 1.3 × 10-7), and a smaller nucleus accumbens (Cohen d = -0.27; SE, 0.07; P = 7.3 × 10-5). There was also a significant negative dose response on cortical thickness (β = -0.24; SE, 0.05; P = 6.8 × 10-7). Regional cortical analyses showed a localization of the effects to the frontal, cingulate, and parietal lobes. Further, cognitive ability was lower for deletion carriers compared with noncarriers on 5 of 7 tasks.

Conclusions and Relevance: These findings, from the largest CNV neuroimaging study to date, provide evidence that 15q11.2 BP1-BP2 structural variation is associated with brain morphology and cognition, with deletion carriers being particularly affected. The pattern of results fits with known molecular functions of genes in the 15q11.2 BP1-BP2 region and suggests involvement of these genes in neuronal plasticity. These neurobiological effects likely contribute to the association of this CNV with neurodevelopmental disorders.

National Category
Psychiatry
Identifiers
urn:nbn:se:umu:diva-169598 (URN)10.1001/jamapsychiatry.2019.3779 (DOI)31665216 (PubMedID)
Available from: 2020-04-08 Created: 2020-04-08 Last updated: 2020-04-09Bibliographically approved
Sonderby, I. E., Gustafsson, O., Doan, N. T., Hibar, D. P., Martin-Brevet, S., Abdellaoui, A., . . . Andreassen, O. A. (2020). Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Molecular Psychiatry, 25(3), 584-602
Open this publication in new window or tab >>Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
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2020 (English)In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578, Vol. 25, no 3, p. 584-602Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Nature Publishing Group, 2020
National Category
Medical Genetics
Identifiers
urn:nbn:se:umu:diva-169456 (URN)10.1038/s41380-018-0118-1 (DOI)000516569700011 ()30283035 (PubMedID)
Note

Correction: Sønderby, I.E., Gústafsson, Ó., Doan, N.T. et al. Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Mol Psychiatry 25, 692–695 (2020). https://doi.org/10.1038/s41380-019-0358-8

Available from: 2020-04-03 Created: 2020-04-03 Last updated: 2020-04-03Bibliographically approved
Córdova-Palomera, A., van der Meer, D., Kaufmann, T., Bettella, F., Wang, Y., Alnaes, D., . . . Westlye, L. T. (2020). Genetic control of variability in subcortical and intracranial volumes. Molecular Psychiatry
Open this publication in new window or tab >>Genetic control of variability in subcortical and intracranial volumes
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2020 (English)In: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578Article in journal (Refereed) Epub ahead of print
Abstract [en]

Sensitivity to external demands is essential for adaptation to dynamic environments, but comes at the cost of increased risk of adverse outcomes when facing poor environmental conditions. Here, we apply a novel methodology to perform genome-wide association analysis of mean and variance in ten key brain features (accumbens, amygdala, caudate, hippocampus, pallidum, putamen, thalamus, intracranial volume, cortical surface area, and cortical thickness), integrating genetic and neuroanatomical data from a large lifespan sample (n = 25,575 individuals; 8-89 years, mean age 51.9 years). We identify genetic loci associated with phenotypic variability in thalamus volume and cortical thickness. The variance-controlling loci involved genes with a documented role in brain and mental health and were not associated with the mean anatomical volumes. This proof-of-principle of the hypothesis of a genetic regulation of brain volume variability contributes to establishing the genetic basis of phenotypic variance (i.e., heritability), allows identifying different degrees of brain robustness across individuals, and opens new research avenues in the search for mechanisms controlling brain and mental health.

Place, publisher, year, edition, pages
Nature Publishing Group, 2020
National Category
Medical Genetics Neurosciences Neurology
Identifiers
urn:nbn:se:umu:diva-169012 (URN)10.1038/s41380-020-0664-1 (DOI)000512844300001 ()32047264 (PubMedID)
Available from: 2020-03-26 Created: 2020-03-26 Last updated: 2020-03-26Bibliographically approved
Johansson, J., Salami, A., Lundquist, A., Wahlin, A., Andersson, M. & Nyberg, L. (2020). Longitudinal evidence that reduced hemispheric encoding/retrieval asymmetry predicts episodic-memory impairment in aging. Neuropsychologia, 137, Article ID 107329.
Open this publication in new window or tab >>Longitudinal evidence that reduced hemispheric encoding/retrieval asymmetry predicts episodic-memory impairment in aging
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2020 (English)In: Neuropsychologia, ISSN 0028-3932, E-ISSN 1873-3514, Vol. 137, article id 107329Article in journal (Refereed) Published
Abstract [en]

The HERA (Hemispheric Encoding/Retrieval Asymmetry) model captures hemispheric lateralization of prefrontal cortex (PFC) brain activity during memory encoding and retrieval. Reduced HERA has been observed in cross-sectional aging studies, but there is no longitudinal evidence, to our knowledge, on age-related changes in HERA and whether maintained or reduced HERA relates to well-preserved memory functioning. In the present study we set out to explore HERA in a longitudinal neuroimaging sample from the Betula study [3 Waves over 10 years; Wave-1: n = 363, W2: n = 227, W3: n = 101]. We used fMRI data from a face-name paired-associates task to derive a HERA index. In support of the HERA model, the mean HERA index was positive across the three imaging waves. The longitudinal age-HERA relationship was highly significant (p < 10(-11)), with a HERA decline occurring after age 60. The age-related HERA decline was associated with episodic memory decline (p < 0.05). Taken together, the findings provide large-scale support for the HERA model, and suggest that reduced HERA in the PFC reflects pathological memory aging possibly related to impaired ability to bias mnemonic processing according to the appropriate encoding or retrieval state.

Place, publisher, year, edition, pages
Elsevier, 2020
Keywords
Aging, Cognitive control, Episodic memory, Prefrontal cortex, Hemispheric asymmetry, Functional magnetic resonance imaging
National Category
Geriatrics
Identifiers
urn:nbn:se:umu:diva-168119 (URN)10.1016/j.neuropsychologia.2019.107329 (DOI)000509751200024 ()31887310 (PubMedID)
Available from: 2020-02-21 Created: 2020-02-21 Last updated: 2020-03-10Bibliographically approved
Andersson, L., Eriksson, J., Stillesjö, S., Juslin, P., Nyberg, L. & Karlsson Wirebring, L. (2020). Neurocognitive processes underlying heuristic and normative probability judgments. Cognition, 196, 1-7, Article ID 104153.
Open this publication in new window or tab >>Neurocognitive processes underlying heuristic and normative probability judgments
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2020 (English)In: Cognition, ISSN 0010-0277, E-ISSN 1873-7838, Vol. 196, p. 1-7, article id 104153Article in journal (Refereed) Published
Abstract [en]

Judging two events in combination (A&B) as more probable than one of the events (A) is known as a conjunction fallacy. According to dual-process explanations of human judgment and decision making, the fallacy is due to the application of a heuristic, associative cognitive process. Avoiding the fallacy has been suggested to require the recruitment of a separate process that can apply normative rules. We investigated these assumptions using functional magnetic resonance imaging (fMRI) during conjunction tasks. Judgments, whether correct or not, engaged a network of brain regions identical to that engaged during similarity judgments. Avoidance of the conjunction fallacy additionally, and uniquely, involved a fronto-parietal network previously linked to supervisory, analytic control processes. The results lend credibility to the idea that incorrect probability judgments are the result of a representativeness heuristic that requires additional neurocognitive resources to avoid.

Place, publisher, year, edition, pages
ELSEVIER, 2020
Keywords
Decision making, Dual-system, Dual-process, fMRI, Representativeness
National Category
Philosophy
Identifiers
urn:nbn:se:umu:diva-169341 (URN)10.1016/j.cognition.2019.104153 (DOI)000518704700021 ()31838247 (PubMedID)
Available from: 2020-04-15 Created: 2020-04-15 Last updated: 2020-04-15Bibliographically approved
Nyberg, L. & Wåhlin, A. (2020). The many facets of brain aging. eLIFE, 9, Article ID e56640.
Open this publication in new window or tab >>The many facets of brain aging
2020 (English)In: eLIFE, E-ISSN 2050-084X, Vol. 9, article id e56640Article in journal, Editorial material (Other academic) Published
Place, publisher, year, edition, pages
eLife Sciences Publications Ltd, 2020
National Category
Radiology, Nuclear Medicine and Medical Imaging
Identifiers
urn:nbn:se:umu:diva-170507 (URN)10.7554/eLife.56640 (DOI)000527663000001 ()32297862 (PubMedID)
Available from: 2020-05-07 Created: 2020-05-07 Last updated: 2020-05-07Bibliographically approved
Berginström, N., Nordström, P., Nyberg, L. & Nordström, A. (2020). White matter hyperintensities increases with traumatic brain injury severity: associations to neuropsychological performance and fatigue. Brain Injury, 34(3), 415-420
Open this publication in new window or tab >>White matter hyperintensities increases with traumatic brain injury severity: associations to neuropsychological performance and fatigue
2020 (English)In: Brain Injury, ISSN 0269-9052, E-ISSN 1362-301X, Vol. 34, no 3, p. 415-420Article in journal (Refereed) Published
Abstract [en]

Objective: To examine the prevalence of white matter hyperintensities (WMHs) in patients with traumatic brain injury (TBI) as compared to healthy controls, and to investigate whether there is an association between WMH lesion burden and performance on neuropsychological tests in patients with TBI.

Methods: A total of 59 patients with TBI and 27 age- and gender-matched healthy controls underwent thorough neuropsychological testing and magnetic resonance imaging. The quantification of WMH lesions was performed using the fully automated Lesion Segmentation Tool.

Results: WMH lesions were more common in patients with TBI than in healthy controls (p = .032), and increased with higher TBI severity (p = .025). Linear regressions showed that WMH lesions in patients with TBI were not related to performance on any neuropsychological tests (p > .05 for all). However, a negative relationship between number of WMH lesions in patients with TBI and self-assessed fatigue was found (r = - 0.33, p = .026).

Conclusion: WMH lesions are more common in patients with TBI than in healthy controls, and WMH lesions burden increases with TBI severity. These lesions could not explain decreased cognitive functioning in patients with TBI but did relate to decreased self-assessment of fatigue after TBI.

Place, publisher, year, edition, pages
Taylor & Francis, 2020
Keywords
Traumatic Brain Injury, fatigue, magnetic Resonance Imaging, neuropsychology, white matter hyperintensities
National Category
Radiology, Nuclear Medicine and Medical Imaging
Identifiers
urn:nbn:se:umu:diva-168252 (URN)10.1080/02699052.2020.1725124 (DOI)000513366800001 ()32037894 (PubMedID)
Available from: 2020-02-18 Created: 2020-02-18 Last updated: 2020-03-13Bibliographically approved
Friedman, B. B., Suri, S., Solé-Padullés, C., Düzel, S., Drevon, C. A., Baaré, W. F., . . . Budin-Ljøsne, I. (2019). Are People Ready for Personalized Brain Health? Perspectives of Research Participants in the Lifebrain Consortium. The Gerontologist, Article ID gnz155.
Open this publication in new window or tab >>Are People Ready for Personalized Brain Health? Perspectives of Research Participants in the Lifebrain Consortium
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2019 (English)In: The Gerontologist, ISSN 0016-9013, E-ISSN 1758-5341, article id gnz155Article in journal (Refereed) Epub ahead of print
Abstract [en]

BACKGROUND AND OBJECTIVES: A healthy brain is central to physical and mental well-being. In this multi-site, qualitative study, we investigated views and attitudes of adult participants in brain research studies on the brain and personalized brain health as well as interest in maintaining a healthy brain.

DESIGN AND METHODS: We conducted individual interviews with 44 adult participants in brain research cohorts of the Lifebrain consortium in Spain, Norway, Germany, and the United Kingdom. The interviews were audio recorded, transcribed, and coded using a cross-country codebook. The interview data were analyzed using qualitative content analysis.

RESULTS: Most participants did not focus on their own brain health and expressed uncertainty regarding how to maintain it. Those actively focusing on brain health often picked one specific strategy like diet or memory training. The participants were interested in taking brain health tests to learn about their individual risk of developing brain diseases, and were willing to take measures to maintain their brain health if personalized follow-up was provided and the measures had proven impact. The participants were interested in more information on brain health. No differences in responses were identified between age groups, sex, or countries.

DISCUSSION AND IMPLICATIONS: Concise, practical, personalized, and evidence-based information about the brain may promote brain health. Based on our findings, we have launched an ongoing global brain health survey to acquire more extensive, quantitative, and representative data on public perception of personalized brain health.

Place, publisher, year, edition, pages
Oxford University Press, 2019
Keywords
Cognition, Lifebrain, Lifestyle, Mental health, Qualitative research
National Category
Neurosciences
Identifiers
urn:nbn:se:umu:diva-169596 (URN)10.1093/geront/gnz155 (DOI)31682729 (PubMedID)
Available from: 2020-04-08 Created: 2020-04-08 Last updated: 2020-04-09
Wåhlin, A. & Nyberg, L. (2019). At the Heart of Cognitive Functioning in Aging. Trends in cognitive sciences, 23(9), 717-720
Open this publication in new window or tab >>At the Heart of Cognitive Functioning in Aging
2019 (English)In: Trends in cognitive sciences, ISSN 1364-6613, E-ISSN 1879-307X, Vol. 23, no 9, p. 717-720Article in journal, Editorial material (Other academic) Published
Abstract [en]

Several neural and non-neural factors contribute to individual differences in cognitive performance. Here we outline a sequence of vascular events where excessive transfer of arterial-pressure pulsatility damages hippocampal capillaries. We argue that the vascular alterations decrease the ability to sustain neural activity and thereby contribute to episodic-memory impairment in aging.

Place, publisher, year, edition, pages
Elsevier, 2019
Keywords
episodic memory, brain maintenance, vascular, blood–brain barrier, arteries, neurovascular coupling, hippocampus
National Category
Neurosciences Psychology Cardiac and Cardiovascular Systems
Identifiers
urn:nbn:se:umu:diva-162831 (URN)10.1016/j.tics.2019.06.004 (DOI)000480652500003 ()31303538 (PubMedID)
Available from: 2019-09-16 Created: 2019-09-16 Last updated: 2019-09-16Bibliographically approved
Papenberg, G., Karalija, N., Salami, A., Rieckmann, A., Andersson, M., Axelsson, J., . . . Bäckman, L. (2019). Balance between Transmitter Availability and Dopamine D2 Receptors in Prefrontal Cortex Influences Memory Functioning. Cerebral Cortex, Article ID bhz142.
Open this publication in new window or tab >>Balance between Transmitter Availability and Dopamine D2 Receptors in Prefrontal Cortex Influences Memory Functioning
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2019 (English)In: Cerebral Cortex, ISSN 1047-3211, E-ISSN 1460-2199, article id bhz142Article in journal (Refereed) Epub ahead of print
Abstract [en]

Insufficient or excessive dopaminergic tone impairs cognitive performance. We examine whether the balance between transmitter availability and dopamine (DA) D2 receptors (D2DRs) is important for successful memory performance in a large sample of adults (n = 175, 64-68 years). The Catechol-O-Methyltransferase polymorphism served as genetic proxy for endogenous prefrontal DA availability, and D2DRs in dorsolateral prefrontal cortex (dlPFC) were measured with [11C]raclopride-PET. Individuals for whom D2DR status matched DA availability showed higher levels of episodic and working-memory performance than individuals with insufficient or excessive DA availability relative to the number of receptors. A similar pattern restricted to episodic memory was observed for D2DRs in caudate. Functional magnetic resonance imaging data acquired during working-memory performance confirmed the importance of a balanced DA system for load-dependent brain activity in dlPFC. Our data suggest that the inverted-U-shaped function relating DA signaling to cognition is modulated by a dynamic association between DA availability and receptor status.

Keywords
catechol-O-methyltransferase, [11C] raclopride, dopamine D2 receptors, episodic memory, working memory
National Category
Neurology
Identifiers
urn:nbn:se:umu:diva-169317 (URN)10.1093/cercor/bhz142 (DOI)31504282 (PubMedID)
Funder
Swedish Research CouncilKnut and Alice Wallenberg FoundationTorsten Söderbergs stiftelseRagnar Söderbergs stiftelseThe Swedish Brain FoundationVästerbotten County CouncilMax Planck Society
Available from: 2020-03-31 Created: 2020-03-31 Last updated: 2020-03-31
Projects
Ansökan från Adam Savine inom programmet Nordic Research Opportunity [2011-02321_VR]; Umeå UniversityCognition, brain, and aging (COBRA): A longitudinal multimodal imaging study [2012-00648_VR]; Umeå UniversityTHE MPRESS STUDY: AN INTERDISCIPLINARY RESEARCH PROGRAM ON MENTAL AND PHYSICAL HEALTH, BRAIN FUNCTIONING, SCHOOL PERFORMANCE, AND PARENTING IN MODERATELY PRETERM BORN CHILDREN AT 10-12 YRS OF AGE [2012-47_Formas]; Umeå UniversityInfrastructure for research on aging and age-related diseases: The Betula database [2014-06381_VR]; Umeå UniversityMethods for non-ignorable missingness in longitudinal brain imaging studies. [P16-0628:1_RJ]; Umeå University
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0002-3367-1746

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