Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2
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Children who carry one variant of a brain protein associated with autism exhibit fewer long-range connections between the prefrontal cortex and more posterior brain regions.
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CNTNAP2 is an ASD risk gene affecting primarily frontal lobe connectivity.
“CNTNAP2 has been identified as an ASD risk gene affecting primarily frontal lobe connectivity (Arking et al. 2008; Scott-Van Zeeland et al. 2010).”
From Dysfunctional Autism Risk Genes Cause Circuit-Specific Connectivity Deficits With Distinct Developmental Trajectories (2018) · cites this paper as Scott-Van Zeeland et al. 2010
These findings support the "developmental disconnection model" of the DMN in ASD.
“These findings support the “developmental disconnection model” of the DMN in ASD, which could be related to the reduced number of GABAergic interneurons in these same regions (Scott-Van Zeeland et al. 2010)”
From Dysfunctional Autism Risk Genes Cause Circuit-Specific Connectivity Deficits With Distinct Developmental Trajectories (2018) · cites this paper as Scott-Van Zeeland et al. 2010
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- Authors
- Scott-Van Zeeland, A. A., Abrahams, B. S., Alvarez-Retuerto, A. I., Sonnenblick, L. I., Rudie, J. D., Ghahremani, D., Mumford, J. A., Poldrack, R. A., Dapretto, M., Geschwind, D. H., & Bookheimer, S. Y.
- Affiliations
- Center for Cognitive Neuroscience, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
- University of California, Los Angeles (US)
- Corresponding author
- Abrahams, Brett S.
- Geschwind, Daniel H.
- Bookheimer, Susan Y.
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2010-11-03
- Volume
- 2
- Issue
- 56
- Pages
- 56ra80-56ra80
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC3065863
- OpenAlex
- W2127753140
- Cited by
- 252
- References
- 41
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 4 · 2023: 12 · 2022: 16 · 2021: 11 · 2020: 13 · 2019: 14 · 2018: 12 · 2017: 23 · 2016: 24 · 2015: 19 · 2014: 10 · 2013: 29 · 2012: 31
- FWCI
- 16.82
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Autism Speaks (AS1626)
- National Institute of Mental Health (F31MH079645, R01MH081754, T32MH073526)
- National Center for Research Resources (P41RR013642, RR 13642, RR00865, M01RR000865, UL1RR025774, C06RR012169)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD035470, P50-HD055784-03S1, P50HD055784, R01HD065280)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Functional Brain Connectivity Studies
- Keywords
- CNTNAP2, autism spectrum disorder, functional connectivity, genotype-phenotype correlation, neurexin, common genetic variants, neurodevelopmental disorders, specific language impairment, human brain imaging
- MeSH terms
- Autistic Disorder, Frontal Lobe, Humans, Magnetic Resonance Imaging, Membrane Proteins, Nerve Tissue Proteins, Neural Pathways, Risk Factors, Genetic Predisposition to Disease
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