Abnormal cell patterning at the cortical gray–white matter boundary in autism spectrum disorders

Avino, Thomas A.; Hutsler, Jeffrey J.

doi:10.1016/j.brainres.2010.08.091

Cited by 114 publications

(111 citation statements)

References 54 publications

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“…The subplate layer and its neurons have been implicated in several neurodevelopmental pathologies (15), among them autism and schizophrenia. Increased numbers of SP remnants have been reported in postmortem histological specimens from schizophrenia patients (21)(22)(23) and an indistinct boundary between white and gray matter, possibly indicating supernumerary SP neurons, has been reported for brains of patients with autism spectrum disorders (24). On the other hand, decreases in cell number of peptidergic SP remnants have been reported in postmortem histological specimens of Alzheimer's disease patients (25).…”

Section: Resultsmentioning

confidence: 99%

Expression profiling of mouse subplate reveals a dynamic gene network and disease association with autism and schizophrenia

Hoerder‐Suabedissen

Oeschger

Krishnan

et al. 2013

Proc. Natl. Acad. Sci. U.S.A.

111

139

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The subplate zone is a highly dynamic transient sector of the developing cerebral cortex that contains some of the earliest generated neurons and the first functional synapses of the cerebral cortex. Subplate cells have important functions in early establishment and maturation of thalamocortical connections, as well as in the development of inhibitory cortical circuits in sensory areas. So far no role has been identified for cells in the subplate in the mature brain and disease association of the subplate-specific genes has not been analyzed systematically. Here we present gene expression evidence for distinct roles of the mouse subplate across development as well as unique molecular markers to extend the repertoire of subplate labels. Performing systematic comparisons between different ages (embryonic days 15 and 18, postnatal day 8, and adult), we reveal the dynamic and constant features of the markers labeling subplate cells during embryonic and early postnatal development and in the adult. This can be visualized using the online database of subplate gene expression at https://molnar.dpag.ox.ac.uk/subplate/. We also identify embryonic similarities in gene expression between the ventricular zones, intermediate zone, and subplate, and distinct postnatal similarities between subplate, layer 5, and layers 2/3. The genes expressed in a subplate-specific manner at some point during development show a statistically significant enrichment for association with autism spectrum disorders and schizophrenia. Our report emphasizes the importance of the study of transient features of the developing brain to better understand neurodevelopmental disorders.RNAseq | microarray | Nxph4 | Tpd52l1 | interstitial white matter cells

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Section: Resultsmentioning

confidence: 99%

Expression profiling of mouse subplate reveals a dynamic gene network and disease association with autism and schizophrenia

Hoerder‐Suabedissen

Oeschger

Krishnan

et al. 2013

Proc. Natl. Acad. Sci. U.S.A.

111

139

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“…Heterotopias, including some in the white matter, were found in child and adult cases 137 . MRI of brains of patients with autism spectrum disorders revealed an indistinct boundary between grey and white matter, possibly also indicating supernumerary subplate neurons 136,138,139 . However, it should be noted that epilepsy is a common co-morbidity of autism, and some overlap between the underlying brain malformations may be expected.…”

Section: Autismmentioning

confidence: 99%

Development, evolution and pathology of neocortical subplate neurons

2015

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Subplate neurons have an essential role in cortical circuit formation. They are among the earliest formed neurons of the cerebral cortex, are located at the junction of white and grey matter, and are necessary for correct thalamocortical axon ingrowth. Recent transcriptomic studies have provided opportunities for monitoring and modulating selected subpopulations of these cells. Analyses of mouse lines expressing reporter genes have demonstrated novel, extracortical subplate neurogenesis and have shown how subplate cells are integrated under the influence of sensory activity into cortical and extracortical circuits. Recent studies have revealed that the subplate is involved in neurosecretion and modification of the extracellular milieu.

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“…Adapted from Valk et al (2015) and Di Martino et al (2014) with permission frontal cortex in 3/6 of cases (Bailey et al 1998). Another study observed laminar rearrangement together with a poorly defined gray and white matter interface in some specimens (Avino and Hutsler 2010). Such cortical interface blurring is generally considered a common sign of atypical migration and aberrant organization, emerging in prenatal developmental stages.…”

Section: Probing Regional Morphologymentioning

confidence: 99%

Neuroimaging-Based Phenotyping of the Autism Spectrum

Bernhardt

Martino

Valk

et al. 2016

Social Behavior From Rodents to Humans

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Recent advances in neuroimaging have offered a rich array of structural and functional markers to probe the organization of regional and large-scale brain networks. The current chapter provides a brief introduction into these techniques and overviews their contribution to the understanding of autism spectrum disorder (ASD), a neurodevelopmental condition associated with atypical social cognition, language function, and repetitive behaviors/interests. While it is generally recognized that ASD relates to structural and functional network anomalies, the extent and overall pattern of reported findings have been rather heterogeneous. Indeed, while several attempts have been made to label the main neuroimaging phenotype of ASD (e.g., 'early brain overgrowth hypothesis', 'amygdala theory', 'disconnectivity hypothesis'), none of these frameworks has been without controversy. Methodological sources of inconsistent results may include differences in subject inclusion criteria, variability in image processing, and analysis methodology. However, inconsistencies may also relate to high heterogeneity across the autism spectrum itself. It, therefore, remains to be investigated whether a consistent imaging phenotype that adequately describes the entire autism spectrum can, in fact, be established. On the other hand, as previous findings clearly emphasize the value of neuroimaging in identifying atypical brain morphology, function, and connectivity, they ultimately support its high potential to identify biologically and clinically relevant endophenotypes.

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Abnormal cell patterning at the cortical gray–white matter boundary in autism spectrum disorders

Cited by 114 publications

References 54 publications

Expression profiling of mouse subplate reveals a dynamic gene network and disease association with autism and schizophrenia

Expression profiling of mouse subplate reveals a dynamic gene network and disease association with autism and schizophrenia

Development, evolution and pathology of neocortical subplate neurons

Neuroimaging-Based Phenotyping of the Autism Spectrum

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