Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia
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Le résumé fourni par la source
Neuronal heterotopia are ectopic nodules of nerve cells that failed to migrate appropriately during the early development of the fetal brain. Subcortical and periventricular neuronal heterotopia have been described previously in association with agenesis of the corpus callosum (ACC). Most common neuronal migration disorders are related to rare genetic mutations, but in ACC, the genetic basis is unknown in up to 55-70% of cases or is heterogeneous in nature[1]. In this case report, we investigated a neonatal brain with ACC, and neuronal heterotopia (ACC-H) diagnosed on antenatal MR imaging and consistent with band heterotopia on postmortem brain images. Histologically clusters of neurons were seen in both the subcortical and periventricular white matter (PVWM) brain region that coincided with impaired abnormalities in radial glial formation. Immunohistochemistry was performed on paraffin-embedded brain tissue blocks from this case ACC-H and an age-matched control. Using tissue sections from the frontal lobe, we examined the distribution of neuronal cells (HuC/HuD, calretinin, and parvalbumin) growth cone (drebrin) and synaptic proteins (synaptophysin and SNAP-25). Additionally, we investigated how the glia (astroglia; nestin, GFAP, vimentin); oligodendroglia (Olig2) and microglia (Iba-1) differed in ACC-H compared to an age-matched control in the corpus callosum, cortex, lateral ganglionic eminence, and PVWM. As expected in the ACC-H case, we found a lack of callosal radial glia and glutamatergic fibers. We also found a decrease in neurons in the cortical region, disturbances in radial glia and a lack of extracellular matrix components in the ACC-H case. The lateral ganglionic eminence and the PVWM regions in the ACC-H case lacked several cellular components that were identified in the control. Inside the neuronal heterotopia, we found evidence of glutamatergic and GABAergic neurons with apparent synaptic connections. The data presented from this case study provides insight as to the composition of neuronal heterotopia, and how disturbances of important migratory signals may dramatically affect ongoing brain development.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia
- Date Crossref
- 24/05/2019
- Éditeur
- Frontiers Media SA
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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St Thomas' Hospital pays non établi dans la noticeÉtablissement de santé
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University of Miami Department of Neurology pays non établi dans la noticeUniversité ou école supérieure
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King's College London Division of Imaging Sciences and Biomedical Engineering pays non établi dans la noticeUniversité ou école supérieure
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Royal Veterinary College Department of Comparative Biomedical Sciences pays non établi dans la noticeUniversité ou école supérieure
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Guy's and St Thomas' NHS Foundation Trust Department of Cellular Pathology pays non établi dans la noticeÉtablissement de santé
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Guy's Hospital pays non établi dans la noticeÉtablissement de santé
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University of Gothenburg Department of Physiology and Neuroscience - Department of Clinical Sciences pays non établi dans la noticeUniversité ou école supérieure
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Department of Clinical Genetics pays non établi dans la noticeÉtablissement de santé
St Thomas' Hospital, Department of Neurology — University of Miami et Division of Imaging Sciences and Biomedical Engineering — King's College London, avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.