Search results for "Cerebral cortex"
showing 10 items of 529 documents
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
2018
The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB. Ten individuals harbored overlapping microdeletions of the chromosomal 9p23-p22.2 region, ranging in size from 225 kb to 4.3 Mb. Five additional subjects had point sequence variations c…
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
2021
Abstract Background Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. Case presentation We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both PCDH11Y and NLGN4Y genes. To our knowledge no study has ever reported the occurrence of the lack of bot…
Brain BDNF levels are dependent on cerebrovascular endothelium-derived nitric oxide
2016
International audience; Scientific evidence continues to demonstrate a link between endothelial function and cognition. Besides, several studies have identified a complex interplay between nitric oxide (NO) and brain-derived neurotrophic factor (BDNF), a neurotrophin largely involved in cognition. Therefore, this study investigated the link between cerebral endothelium-derived NO and BDNF signaling. For this purpose, levels of BDNF and the phosphorylated form of endothelial NO synthase at serine 1177 (p-eNOS) were simultaneously measured in the cortex and hippocampus of rats subjected to either bilateral common carotid occlusion (n=6), physical exercise (n=6) or a combination of both (n=6) …
RS1 (Rsc1A1) deficiency limits cerebral SGLT1 expression and delays brain damage after experimental traumatic brain injury
2018
Acute cerebral lesions are associated with dysregulation of brain glucose homeostasis. Previous studies showed that knockdown of Na+ -D-glucose cotransporter SGLT1 impaired outcome after middle cerebral artery occlusion and that widely expressed intracellular RS1 (RSC1A1) is involved in transcriptional and post-translational down-regulation of SGLT1. In the present study, we investigated whether SGLT1 is up-regulated during traumatic brain injury (TBI) and whether removal of RS1 in mice (RS1-KO) influences SGLT1 expression and outcome. Unexpectedly, brain SGLT1 mRNA in RS1-KO was similar to wild-type whereas it was increased in small intestine and decreased in kidney. One day after TBI, SGL…
The polymodal sensory cortex is crucial for controlling lateral postural stability: evidence from stroke patients.
2000
International audience; In modern literature, internal models are considered as a general neural process for resolving sensory ambiguities, synthesising information from disparate sensory modalities, and combining efferent and afferent information. The polymodal sensory cortex, especially the temporoparietal junction (TPJ), is thought to be a nodal point of the network underlying these properties. According to this view, a pronounced disruption of the TPJ functioning should dramatically impair body balance. Surprisingly, little attention has been paid to this possible relationship, which was the subject of investigation in this study. Twenty-two brain-damaged patients and 14 healthy subject…
Cerebral metabolism after transient ischemic attack. A 1H MR spectroscopy study
1999
International audience; Abstract: Metabolic changes induced by cerebral infarction or by stenosis and occlusion of the internal carotid artery have been previously described in 1H Magnetic Resonance Spectroscopy (1H MRS). These changes are essentially characterized by decreased N-acetyl-aspartate (NAA) and increased lactate concentration. Little is known about the metabolic changes observed in the three days following a transient ischemic attack (TIA) in the absence of stenosis or occlusion of the internal carotid artery, and without visible infarction on Magnetic Resonance imaging (MRI). We studied five patients with a TIA lasting between 30 min and 3 h, affecting the sensory and motor fun…
Impaired semantic processing during sentence reading in children with dyslexia: combined fMRI and ERP evidence
2008
Developmental dyslexia is a specific disorder of reading acquisition characterized by a phonological core deficit. Sentence reading is also impaired in dyslexic readers, but whether semantic processing deficits contribute is unclear. Combining spatially and temporally sensitive neuroimaging techniques to focus on semantic processing can provide a more comprehensive characterization of sentence reading in dyslexia. We recorded brain activity from 52 children (16 with dyslexia, 31 controls) with functional magnetic resonance imaging (fMRI) and event-related potentials (ERP) in two separate counterbalanced sessions. The children silently read and occasionally judged simple sentences with seman…
Lung injury does not aggravate mechanical ventilation-induced early cerebral inflammation or apoptosis in an animal model.
2018
INTRODUCTION:The acute respiratory distress syndrome is not only associated with a high mortality, but also goes along with cognitive impairment in survivors. The cause for this cognitive impairment is still not clear. One possible mechanism could be cerebral inflammation as result of a "lung-brain-crosstalk". Even mechanical ventilation itself can induce cerebral inflammation. We hypothesized, that an acute lung injury aggravates the cerebral inflammation induced by mechanical ventilation itself and leads to neuronal damage. METHODS:After approval of the institutional and state animal care committee 20 pigs were randomized to one of three groups: lung injury by central venous injection of …
N-Acetylaspartate/Creatine and Choline/Creatine Ratios in the Thalami, Insular Cortex and White Matter as Markers of Hypertension and Cognitive Impai…
2008
International audience; Abstract: Our objective was to investigate the influence of hypertension on N-acetylaspartate (NAA) and choline (Cho) ratios in brain tissues in a community-dwelling elderly population. Brain flexibility was also evaluated with regard to the same metabolite ratios. Proton magnetic resonance spectroscopy (MRS) and the Trail Making Test (TMT) were performed in 80 subjects (75.7 +/- 4 years old) from the Three-City Study. Fifty-eight participants had hypertension. The NAA/creatine (Cr) and Cho/Cr ratios were obtained in the insular cortex, the thalami and the deep periventricular white matter. In addition, the B-A score of the TMT was evaluated. Uniand multi-variate ana…
Long-term effects on cortical glutamate release induced by prenatal exposure to the cannabinoid receptor agonist (r)-(+)-[2,3-dihydro-5-methyl-3-(4-m…
2003
The aim of the present in vivo microdialysis study was to investigate whether prenatal exposure to the CB1 receptor agonist WIN55,212-2 mesylate (WIN; (R)-()-(2,3- dihydro-5-methyl-3-(4-morpholinyl-methyl)pyrrolo(1,2,3-de)- 1,4-benzoxazin-6-yl)-1-naphthalenylmethanone), at a dose of 0.5 mg/kg (s.c. from the fifth to the 20th day of gestation), that causes neither malformations nor overt signs of toxicity, influences cortical glutamate extracellular levels in adult (90- day old) rats. Dam weight gain, pregnancy length and litter size at birth were not significantly affected by prenatal treatment with WIN. Basal and K-evoked dialysate glutamate levels were lower in the cerebral cortex of adul…