Les études génétiques indiquent que l'induction neurale et la maturation neuronale précoce sont perturbées dans l'autisme

Titre original en anglais : Genetics studies indicate that neural induction and early neuronal maturation are disturbed in autism

Cette publication est incluse dans le projet « Contributions académiques de personnes autistes sur l’autisme ». deux auteur·ices de cette publication sont identifié·es comme autistes dans le projet.

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Casanova, M. & Casanova, M. (2014). Genetics studies indicate that neural induction and early neuronal maturation are disturbed in autism. Frontiers in Cellular Neuroscience, 8, 397-397. https://doi.org/10.3389/fncel.2014.00397

Publication date: 19/11/2014 Ajout dans AutiHub: 14/09/2026 Type: Article Langue de l’article: Anglais
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Auteurs

Auteur·ices des publications
2
Auteur·ices de la publication identifié·es comme autistes
2 / 2 (100,0 %)
  1. Manuel Casanova *
  2. Manuel Casanova *

Résumé

Les études neuropathologiques post-mortem sur l'autisme révèlent de façon constante des types distinctifs de malformations, notamment des dysplasies corticales, des hétérotopies et diverses anomalies neuronomorphométriques. Conformément à ces observations, nous examinons ici le fait que 88 % des gènes à haut risque pour l'autisme influencent l'induction neurale et la maturation précoce du neuroblaste. En outre, 80 % de ces mêmes gènes influencent les stades ultérieurs de la différenciation, y compris le développement des neurites et des synapses, ce qui suggère que ces produits géniques exercent des effets développementaux durables sur le développement cellulaire ainsi que des éléments de redondance dans les processus de prolifération, de croissance et de maturation neurales. Nous abordons également le chevauchement génétique putatif entre l'autisme et des affections telles que l'épilepsie et la schizophrénie, avec des implications pour des étiologies communes et divergentes. Cette revue introduit la nécessité d'un décalage de cadre dans notre compréhension de la base neurodéveloppementale de l'autisme afin d'inclure tous les stades de la maturation neuronale, allant de l'induction neurale à la synaptogenèse.

Postmortem neuropathological studies of autism consistently reveal distinctive types of malformations, including cortical dysplasias, heterotopias, and various neuronomorphometric abnormalities. In keeping with these observations, we review here that 88% of high-risk genes for autism influence neural induction and early maturation of the neuroblast. In addition, 80% of these same genes influence later stages of differentiation, including neurite and synapse development, suggesting that these gene products exhibit long-lasting developmental effects on cell development as well as elements of redundancy in processes of neural proliferation, growth, and maturation. We also address the putative genetic overlap of autism with conditions like epilepsy and schizophrenia, with implications to shared and divergent etiologies. This review imports the necessity of a frameshift in our understanding of the neurodevelopmental basis of autism to include all stages of neuronal maturation, ranging from neural induction to synaptogenesis.

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Références citées
117
Avec un DOI
109
Sans DOI, à partir du texte brut de la bibliographie
8
1 / 117 (0,9 %) références citées comprennent au moins une personne identifiée comme autiste.
Références avec données à compléter
6 / 117 (5,1 %)
Références avec noms d’auteurices détectés
117 / 117 (100,0 %)
Sans nom d’auteurice détecté
0
Sans titre structuré
6
Sans identifiant stable
7
Références avec noms bruts d’auteurices restant à vérifier
0
Références avec problème de récupération des métadonnées externes
1
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Noms d’auteurices détectés dans la bibliographie citée
747
À partir du DOI ou de métadonnées externes
747
À partir du texte brut validé de la bibliographie
0
Noms bruts déjà validés
0
Noms bruts restant à vérifier
0
36 / 747 (4,8 %) noms sont associés à un·e auteurice déjà présent·e dans AutiHub. 711 / 747 (95,2 %) noms ne sont pas encore associés.
Noms associés à une personne identifiée comme autiste
3 / 747 (0,4 %)
Calculé sur l’ensemble des noms d’auteurices détectés dans la bibliographie citée. Parmi les noms associés à un·e auteurice déjà présent·e dans AutiHub : 3 / 36 (8,3 %). Personnes distinctes identifiées comme autistes : 3 / 707 (0,4 %).
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