Connecting Genes to Brain in the Autism Spectrum Disorders
Open accessAbstract
The autism spectrum disorders (ASDs) are a complex group of neuropsychiatric conditions involving language, social communication, and mental flexibility. Here, we attempt to place recent genetic advances within a developmental and anatomical context. Recent progress in identifying ASD candidate genes supports involvement of multiple brain regions, including the frontal lobes, anterior temporal lobes, caudate, and cerebellum. Understanding genetic data within an anatomical context will be critical to explain how individual risk factors operate to shape phenotypic presentation in patients.
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The majority of single-gene disorders associated with AD also feature cerebellar pathology, suggesting that linking cerebellar structural abnormalities to core neurobehavioral features may provide insights into AD etiology.
“The majority of single-gene disorders associated with AD also are characterized by cerebellar pathology, suggesting that linking cerebellar structural abnormalities to core neurobehavioral features in AD may provide important insights into the etiology of these disorder(s) [190].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [190]
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- Authors
- Abrahams, B. S., & Geschwind, D. H.
- Affiliations
- University of California, Los Angeles (US)
- ORCID
- Geschwind, Daniel H.
- Venue
- Archives of Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2010-04-01
- Volume
- 67
- Issue
- 4
- Pages
- 395-9
- ISSN
- 0003-9942 (ISSN-L)
- PMC
- PMC3645845
- OpenAlex
- W1981492377
- Cited by
- 193
- References
- 50
- Citations by year
- 2025: 1 · 2024: 4 · 2023: 5 · 2022: 7 · 2021: 16 · 2020: 8 · 2019: 4 · 2018: 10 · 2017: 6 · 2016: 11 · 2015: 22 · 2014: 20 · 2013: 18 · 2012: 33
- FWCI
- 1.81
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Archives of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Autism Speaks (AS7458)
- National Institute of Mental Health (R01MH64547, R37 MH60233, R37MH060233, U54MH68172, U54MH068172, R01MH064547)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD055784)
- 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 › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- autism spectrum disorder, genetic risk factors, candidate genes, brain development, frontal lobe, anterior temporal lobe, caudate nucleus, cerebellum, neuropsychiatric disorders, social communication
- MeSH terms
- Animals, Brain, Brain Chemistry, Child, Child Development Disorders, Pervasive, Disease Models, Animal, Humans, Nervous System Malformations, Phenotype, Social Behavior Disorders, Gene Expression Regulation, Developmental, Genetic Predisposition to Disease, Genome-Wide Association Study
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