Search results for "NeuroD"
showing 10 items of 604 documents
Análisis fenotípico y genotípico de los pacientes con trastornos del neurodesarrollo en los que se ha detectado alteraciones patogénicas en el estudi…
2022
La Neuropediatría es el área de la Pediatría que estudia y trata a los pacientes con patología neurológica de menos de 18 años. Entre la patología neurológica en la infancia, se encuentran los trastornos del neurodesarrollo (TND), incluyendo discapacidad intelectual y trastornos del espectro autista, pero también la epilepsia, los trastornos del movimiento, los cuadros polimalformativos, o las enfermedades neurometabólicas, entre otras. La anamnesis y la exploración neurológica son la base para establecer el diagnóstico clínico en Neuropediatría. Hasta hace relativamente poco tiempo, una gran proporción de estos pacientes no llegaban a tener un diagnóstico etiológico. La incorporación de di…
Development and evolution of inner ear sensory epithelia and their innervation
2002
The development and evolution of the inner ear sensory patches and their innervation is reviewed. Recent molecular developmental data suggest that development of these sensory patches is a developmental recapitulation of the evolutionary history. These data suggest that the ear generates multiple, functionally diverse sensory epithelia by dividing a single sensory primordium. Those epithelia will establish distinct identities through the overlapping expression of genes of which only a few are currently known. One of these distinctions is the unique pattern of hair cell polarity. A hypothesis is presented on how the hair cell polarity may relate to the progressive segregation of the six sens…
Changes in visual function and retinal structure in the progression of Alzheimer's disease
2019
Background Alzheimer's Disease (AD) can cause degeneration in the retina and optic nerve either directly, as a result of amyloid beta deposits, or secondarily, as a result of the degradation of the visual cortex. These effects raise the possibility that tracking ophthalmologic changes in the retina can be used to assess neurodegeneration in AD. This study aimed to detect retinal changes and associated functional changes in three groups of patients consisting of AD patients with mild disease, AD patients with moderate disease and healthy controls by using non-invasive psychophysical ophthalmological tests and optical coherence tomography (OCT). Methods We included 39 patients with mild AD, 2…
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
2022
Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features can be inconclusive in mild and unusual WDSTS presentations with variable ID (mild to severe), facies (typical or not) and other associated malformations (bone, cerebral, renal, cardiac and ophthalmological anomalies). Interpretation and classification of rare KMT2A variants can be challenging. A genome-wide DNA methylation episignature for KMT2A-related syndrome could allow functional classification of variants and provide insights into the pathoph…
Explicit Oral Narrative Intervention for Students with Williams Syndrome
2018
Narrative skills play a crucial role in organizing experience, facilitating social interaction and building academic discourse and literacy. They are at the interface of cognitive, social, and linguistic abilities related to school engagement. Despite their relative strengths in social and grammatical skills, students with Williams syndrome (WS) do not show parallel cognitive and pragmatic performance in narrative generation tasks. The aim of the present study was to assess retelling of a TV cartoon tale and the effect of an individualized explicit instruction of the narrative structure. Participants included eight students with WS who attended different special education levels. Narratives…
Hydrolysed proteins in infant formula and child neurodevelopment: The French ELFE study
2021
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
2017
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with ZBTB18 mutations and seven with HNRNPU mutations, an…
Microglia and α-synuclein implication in Parkinson's disease
2011
Age-related neurodegenerative disorders like Parkinson’s disease take an enormous toll on individuals and on society. Despite extensive efforts, Parkinson’s disease remains incurable and only very limited treatments exist. Indeed, Parkinson’s pathogenesis is still not clear and research on its molecular mechanisms is ongoing. In this study, we focused our interest on two abnormal events occurring in Parkinson’s patients, namely α-synuclein aggregation and microglial activation. We first investigated α-synuclein and its abnormal polymerisation. For this purpose, we developed novel methods, which allowed the in vitro production of different types of α-synuclein oligomers. Using highly sensiti…
Assessment of Adult Mouse Brain Neuroanatomical Phenotypes Using Quantitative and Precision Histology
2022
Modelling human neurodevelopmental disorders is important in biomedical research since the brain cannot be easily accessed in humans. In this chapter, we describe a series of standardized procedures for the reliable analysis of neuroanatomical phenotypes (NAPs) of the adult mouse brain using quantitative 2D histological practices. Our goal is to provide the reader an experimental pipeline, ranging from experimental work through to data analysis, which can be performed in any academic research setting with or without access to a histology platform. Depending on the type of sections studied, parasagittal or coronal, the assessment of brain neuroanatomy is performed at stereotaxic sections, at…
Characterization of variations responsible for neurodevelopmental disorders in the PTBP1 and PTBP2 genes
2022
Heterogeneous nuclear ribonucleoproteins (hnRNPs) polypyrimidine tract-binding protein 1 and 2 (PTBP1 and PTBP2) are splicing regulators, shuttling between nucleus and cytoplasm thanks to the action of partially overlapping nuclear localization and export signals (NLS and NES respectively). These two paralog proteins share similar RNA binding properties although they exhibit different expression levels and kinetics, post-translational modifications and cofactor interactions across tissues and cell types, thus regulating RNA metabolism in a cell- specific manner. Despite their fundamental role as alternative splicing factors implicated in cell growth, neuronal cell differentiation, and immun…