Search results for "neuron"
showing 10 items of 2611 documents
Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and red…
2008
A 32-year-old female patient, observed for 30 years because of a distinctive phenotype consisting of a dysmorphic face non-progressive deficit of motor control, lack of speech development, reduced sensitivity to pain, with a known, complex interstitial deletion 6q14 within a de novo pericentric inversion 6p11.2;q15, was re-examined at the molecular level. Applying the Infinium HumanHap300 BeadChip array and BAC-based FISH we found two new non-contiguous microdeletions in addition to the one detected previously by high resolution G-band analysis. A 360 kb loss in band 6p12.3, containing the genes RHAG, CRISP1, 2, and 3, and PGK2, a 1.15 Mb loss in 6p12.2-p12.1, containing the genes PKHD1, IL…
Combining tDCS with prismatic adaptation for non-invasive neuromodulation of the motor cortex
2017
Abstract Background Prismatic adaptation (PA) shifts visual field laterally and induces lateralized deviations of spatial attention. Recently, it has been suggested that prismatic goggles are also able to modulate brain excitability, with cognitive after-effects documented even in tasks not necessarily spatial in nature. Objective The aim of the present study was to test whether neuromodulatory effects obtained from tDCS and prismatic goggles could interact and induce homeostatic changes in corticospinal excitability. Methods Thirty-four subjects were submitted to single-pulse transcranial magnetic stimulation (TMS) over the right primary motor cortex to measure Input-Output (IO) curve as a…
Seeing odors in color: Cross-modal associations in children and adults from two cultural environments
2018
International audience; We investigated the occurrence and underlying processes of odor–color associations in French and American 6- to 10-year-old children (n = 386) and adults (n = 137). Nine odorants were chosen according to their familiarity to either cultural group. Participants matched each odor with a color, gave hedonic and familiarity judgments, and identified each odor. By 6 years of age, children displayed culture-specific odor–color associations, but age differences were noted in the type of associations. Children and adults in both cultural groups shared common associations and formed associations that were unique to their environment, underscoring the importance of exposure le…
The Neuronal Ceroid-Lipofuscinoses. Recent Advances
1998
The neuronal ceroid lipofuscinoses (NCLs) represent a group of neurodegenerative disorders characterised by progressive visual failure, neurodegeneration, epilepsy and the accumulation of an autofluorescent lipopigment in neurons and other cells. The main childhood subtypes are infantile (INCL;CLN1), classical late infantile (LINCL;CLN2) and juvenile NCL (J NCL; CLN3), distinguished on the basis of age of onset, clinical course and ultrastructural morphology, and recently genetic analysis. In addition several variant forms of the disease complex have been described as well as a rare adult onset form. Advances in both genetics and biochemistry have led to the identification of the genes for …
Cells expressing markers of immature neurons in the amygdala of adult humans
2012
The polysialylated form of the neuronal cell adhesion molecule (PSA-NCAM) is expressed by immature neurons in the amygdala of adult mammals, including non-human primates. In a recent report we have also described the presence of PSA-NCAM-expressing cells in the amygdala of adult humans. Although many of these cells have been classified as mature interneurons, some of them lacked mature neuronal markers, suggesting the presence of immature neurons. We have studied, using immunohistochemistry, the existence and distribution of these immature neurons using post mortem material. We have also analysed the presence of proliferating cells and the association between immature neurons and specialise…
Human pathology in NCL
2013
AbstractIn childhood the neuronal ceroid lipofuscinoses (NCL) are the most frequent lysosomal diseases and the most frequent neurodegenerative diseases but, in adulthood, they represent a small fraction among the neurodegenerative diseases. Their morphology is marked by: (i) loss of neurons, foremost in the cerebral and cerebellar cortices resulting in cerebral and cerebellar atrophy; (ii) an almost ubiquitous accumulation of lipopigments in nerve cells, but also in extracerebral tissues. Loss of cortical neurons is selective, indiscriminate depletion in early childhood forms occurring only at an advanced stage, whereas loss of neurons in subcortical grey-matter regions has not been quantit…
Cellular composition and cytoarchitecture of the adult human subventricular zone: A niche of neural stem cells
2005
The lateral wall of the lateral ventricle in the human brain contains neural stem cells throughout adult life. We conducted a cytoarchitectural and ultrastructural study in complete postmortem brains (n = 7) and in postmortem (n = 42) and intraoperative tissue (n = 43) samples of the lateral walls of the human lateral ventricles. With varying thickness and cell densities, four layers were observed throughout the lateral ventricular wall: a monolayer of ependymal cells (Layer I), a hypocellular gap (Layer II), a ribbon of cells (Layer III) composed of astrocytes, and a transitional zone (Layer IV) into the brain parenchyma. Unlike rodents and nonhuman primates, adult human glial fibrillary a…
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
2007
Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS.
Selective expression of galanin in neuronal-like cells of the human carotid body
2015
The carotid body is a neural-crest-derived organ devoted to respiratory homeostasis through sensing changes in blood oxygen levels. The sensory units are the glomeruli composed of clusters of neuronal-like (type I) cells surrounded by glial-like (type II) cells. During chronic hypoxia, the carotid body shows growth, with increasing neuronal-like cell numbers. We are interested in the signals involved in the mechanisms that underlie such response, because they are not well understood and described. Considering that, in literature, galanin is involved in neurotrophic or neuroprotective role in cell proliferation and is expressed in animal carotid body, we investigated its expression in human.…
Vasodilatation of human gingiva and neurogenic inflammation
2005
BACKGROUND: Neurogenic Inflammation (NI) is the consequence of amyelinic-sensitive neuron activation. Recent studies on rats proved that NI could be experimentally induced by topical capsaicin application. The aim of this study is to evaluate the effects of topical capsaicin application on human periodontal mucosa and to assess if NI might have a role in the pathogenesis of periodontal diseases. METHODS: 15 patients were examined in our laboratory. NI was experimentally induced in the gingival mucosa close to: (1) the interdental papilla corresponding to the upper central incisors; (2) the interdental papilla corresponding to the lower left lateral incisor and canine after ipsilateral nerve…