Cited by 415Williams Syndrome ResearchGenetics and Neurodevelopmental DisordersNeuroendocrine regulation and behavior

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Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour

Meyer-Lindenberg, Andreas, Mervis, Carolyn B., Faith Berman, Karen·2006·Nature Reviews Neuroscience

DOI 10.1038/nrn1906

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Abstract

Williams syndrome, a rare disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, has long intrigued neuroscientists with its unique combination of striking behavioural abnormalities, such as hypersociability, and characteristic neurocognitive profile. Williams syndrome, therefore, raises fundamental questions about the neural mechanisms of social behaviour, the modularity of mind and brain development, and provides a privileged setting to understand genetic influences on complex brain functions in a 'bottom-up' way. We review recent advances in uncovering the functional and structural neural substrates of Williams syndrome that provide an emerging understanding of how these are related to dissociable genetic contributions characterized both in special participant populations and animal models.

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Genetic Contributions to Human Gyrification: Sulcal Morphometry in Williams Syndrome
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Hippocampal and visuospatial learning defects in mice with a deletion of frizzled 9, a gene in the Williams syndrome deletion interval
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A study of relative clauses in Williams syndrome
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Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on Chromosome 7q11.23
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Music and Language Skills of Children with Williams Syndrome
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Evidence for superior parietal impairment in Williams syndrome
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Genetic Control of Cortical Convolutions
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Analysis of Cerebral Shape in Williams Syndrome
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Expression Analysis and Protein Localization of the Human HPC-1/Syntaxin 1A, a Gene Deleted in Williams Syndrome
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Divergent network connectivity changes in behavioural variant frontotemporal dementia and Alzheimer’s disease
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Pober, B. R. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0903074 · Cited by 848
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Kennedy, D. P., & Adolphs, R. (2012) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2012.09.006 · Cited by 846
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“Patients with Williams syndrome show high sociability and empathy (Meyer-Lindenberg et al., 2006), whereas autistic people show impaired social functioning (Hill and Frith, 2003).”
Background

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Authors: Meyer-Lindenberg, A., Mervis, C. B., & Faith Berman, K.
Venue: Nature Reviews Neuroscience
Publisher: Springer Science and Business Media LLC
Published: 2006-05
Volume: 7
Issue: 5
Pages: 380-393
ISSN: 1471-003X (ISSN-L)
1471-0048
DOI: 10.1038/nrn1906
OpenAlex: W2074408785
Cited by: 411
References: 184
Citations by year: 2026: 3 · 2025: 5 · 2024: 10 · 2023: 11 · 2022: 10 · 2021: 36 · 2020: 11 · 2019: 12 · 2018: 22 · 2017: 22 · 2016: 16 · 2015: 17 · 2014: 21 · 2013: 21 · 2012: 35
FWCI: 2.23
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature reviews. Neuroscience (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health
National Institute of Neurological Disorders and Stroke (R01NS035102)
Topics: Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Neuroendocrine regulation and behavior
Keywords: Williams syndrome, chromosome 7q11.23 microdeletion, neurodevelopmental disorders, hypersociability, social behavior, cognitive profile, neural correlates, brain structure, animal models, modularity of mind, brain development
MeSH terms: Animals, Behavior, Brain, Cognition, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Social Behavior, Williams Syndrome

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Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour

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