Neural systems approaches to the neurogenetics of autism spectrum disorders

@article{Piggot2009NeuralSA,
  title={Neural systems approaches to the neurogenetics of autism spectrum disorders},
  author={Judith Piggot and David Shirinyan and Shirag K. Shemmassian and Samra Vazirian and Maricela Alarc{\'o}n},
  journal={Neuroscience},
  year={2009},
  volume={164},
  pages={247-256}
}
Autism is generally accepted as the most genetic of all the developmental neuropsychiatric syndromes. However, despite more than several decades of genetic study, the etiology of autism remains unknown, largely due to the genetic and phenotypic diversity, or heterogeneity, of this disorder, and the lack of biologically based classification systems. At the same time, in the neuroimaging literature, the body of research identifying candidate neural systems underlying aspects of autistic… 
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References

SHOWING 1-10 OF 106 REFERENCES
Autism genetics: strategies, challenges, and opportunities
  • B. O’Roak, M. State
  • Biology, Medicine
    Autism research : official journal of the International Society for Autism Research
  • 2008
TLDR
What is known about the relative contributions of various types of genetic variation to ASD is addressed, the obstacles facing gene discovery in this complex disorder are considered, and the common methodologies employed to address these issues are evaluated.
Examination of association of genes in the serotonin system to autism
TLDR
Variation within genes on the serotonin pathway, particularly HTR3A, may have modest effects on autism risk, and genome-wide linkage scans in autism do not provide strong evidence for linkage to any specific gene within the pathway.
Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes
TLDR
This study demonstrates that selection of informative subphenotypes to define a homogeneous set of ASD families could be very important in detecting the susceptibility loci in autism.
Advances in autism genetics: on the threshold of a new neurobiology
TLDR
Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme.
An autosomal genomic screen for autism.
TLDR
The strongest multipoint results were for regions on chromosomes 13 and 7, and the highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 under the recessive model.
Autism spectrum disorders: developmental disconnection syndromes
TLDR
A potential unifying model in which higher-order association areas of the brain that normally connect to the frontal lobe are partially disconnected during development can accommodate the specific neurobehavioral features observed in autism, their emergence during development, and the heterogeneity of autism etiology, behaviors and cognition.
An autosomal genomic screen for autism. Collaborative linkage study of autism.
TLDR
The first stage of a two-stage genomic screen for autism was carried out on individuals affected with autism from 75 families ascertained through an affected sib-pair, with the strongest multipoint results for regions on chromosomes 13 and 7.
The biological basis of autism
  • J. Piven
  • Biology, Medicine
    Current Opinion in Neurobiology
  • 1997
TLDR
Molecular genetic studies looking for susceptibility genes in this disorder and neuroimaging studies attempting to identify characteristic structural and functional brain abnormalities are under way are likely to have a significant impact on understanding of the pathogenesis of autism.
Examination of AVPR1a as an autism susceptibility gene
TLDR
Though the AVPR1a gene was tested by screening its exons in 125 independent autistic probands and genotyping two promoter polymorphisms in 65 autism affected sibling pair (ASP) families, there was no nonconservative coding sequence changes and evidence of linkage and of linkage disequilibrium was identified.
Developmental deficits in social perception in autism: the role of the amygdala and fusiform face area
  • R. Schultz
  • Psychology, Medicine
    International Journal of Developmental Neuroscience
  • 2005
TLDR
It is argued that the development of face perception and social cognitive skills are supported by the amygdala–fusiform system, and that deficits in this network are instrumental in causing autism.
...
1
2
3
4
5
...