Free Neuropathol. 2023 May 8;4:4-8. doi: 10.17879/freeneuropathology-2023-4701. eCollection 2023 Jan.
ABSTRACT
Several advances in the field of neurodevelopmental diseases (NDDs) have been reported by 2022. Of course, NDDs comprise a diverse group of disorders, most of which with different aetiologies. However, owing to the development and consolidation of technological approaches, such as proteomics and RNA-sequencing, and to the improvement of brain organoids along with the introduction of artificial intelligence (AI) for biodata analysis, in 2022 new aetiological mechanisms for some NDDs have been proposed. Here, we present hints of some of these findings. For instance, centrioles regulate neuronal migration and could be behind the aetiology of periventricular heterotopia; also, the accumulation of misfolded proteins could explain the neurological effects in COVID-19 patients; and, autism spectrum disorders (ASD) could be the expression of altered cortical arealization. We also cover other interesting aspects as the description of a new NDD characterized by deregulation of genes involved in stress granule (SG) assemblies, or the description of a newly discovered neural progenitor that explains the different phenotypes of tumours and cortical tubers in tuberous sclerosis complex (TSC) disease; and how it is possible to decipher the aetiology of sudden unexplained death in childhood (SUDC) or improve the diagnosis of cortical malformations using formalin-fixed paraffin-embedded samples.
Heliyon. 2024 May 31;10(11):e32251. doi: 10.1016/j.heliyon.2024.e32251. eCollection 2024 Jun 15.ABSTRACTAutism spectrum disorder (ASD) is a behaviorally defined complex neurodevelopmental syndrome characterized by persistent social communication...
Front Nutr. 2024 Jun 12;11:1408327. doi: 10.3389/fnut.2024.1408327. eCollection 2024.ABSTRACTOur core premise is that personalized variations of a ketogenic diet are likely to benefit pediatric patients...
Front Psychol. 2024 Jun 12;15:1244701. doi: 10.3389/fpsyg.2024.1244701. eCollection 2024.ABSTRACTInteroceptive awareness (IA) is crucial to understanding mental health. The Multidimensional Assessment of Interoceptive Awareness (MAIA) scale,...
Front Psychol. 2024 Jun 12;15:1348074. doi: 10.3389/fpsyg.2024.1348074. eCollection 2024.ABSTRACTINTRODUCTION: Central coherence is the normal tendency to process and give meaning to incoming information taking into...
Fundam Res. 2022 Apr 29;3(4):557-569. doi: 10.1016/j.fmre.2022.04.016. eCollection 2023 Jul.ABSTRACTAuditory hair cells (HCs) are the mechanosensory receptors of the cochlea, and HC loss or malfunction...
BMC Biol. 2024 Jun 26;22(1):142. doi: 10.1186/s12915-024-01940-y.ABSTRACTBACKGROUND: The VPS50 protein functions in synaptic and dense core vesicle acidification, and perturbations of VPS50 function produce behavioral...
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