Brainstem, cerebellar and limbic neuroanatomical abnormalities in autism
Abstract
Recent autopsy and/or quantitative magnetic resonance imaging studies of autistic patients have identified agenesis of the superior olive, dysgenesis of the facial nucleus, reduced numbers of Purkinje neurons, hypoplasia of the brainstem and posterior cerebellum, and increased neuron-packing density of the medial, cortical and central nuclei of the amygdala and the medial septum. As neurogenesis occurs for these different neuron types during approximately the fifth week of gestation, the possibility is raised that this may be a 'window of vulnerability' for autism; the likely etiologic heterogeneity of autism suggests that other windows of vulnerability are also possible.
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Post-mortem anatomical studies of autistic brains reveal loss of Purkinje cells in posterior vermis and intermediate cerebellar cortex as the most consistent neuropathology, suggesting a key role of the cerebellum in autism.
“Post-mortem anatomical studies of brains from autistic individuals thus far revealed loss of Purkinje cells in the posterior vermis and intermediate cerebellar cortex as the most consistent neuropathology, suggesting a key role of the cerebellum in autism [213].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [213]
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- Authors
- Courchesne, E.
- Affiliations
- University of California San Diego (US)
- Corresponding author
- Courchesne, Eric
- ORCID
- Courchesne, Eric
- Venue
- Current Opinion in Neurobiology
- Publisher
- Elsevier BV
- Published
- 1997-04
- Volume
- 7
- Issue
- 2
- Pages
- 269-278
- ISSN
- 0959-4388 (ISSN-L)
- OpenAlex
- W2165792108
- Cited by
- 401
- References
- 63
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 7 · 2023: 9 · 2022: 7 · 2021: 10 · 2020: 8 · 2019: 10 · 2018: 4 · 2017: 10 · 2016: 11 · 2015: 17 · 2014: 11 · 2013: 20 · 2012: 20
- FWCI
- 2.04
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Opinion in Neurobiology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Mental Health (R01MH036840, 1-RO1-MH36840)
- National Institute of Neurological Disorders and Stroke (R01NS019855, 2-RO1-NS-19855)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- autism spectrum disorder, brainstem, cerebellum, limbic system, Purkinje cells, brainstem hypoplasia, amygdala, medial septum, neurogenesis, developmental vulnerability, autism etiology
- MeSH terms
- Autistic Disorder, Brain Stem, Cerebellum, Humans, Limbic System
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