Search results for "NERVE"

showing 10 items of 1683 documents

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

2019

Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations of this disorder vary widely. PRRT2 encodes a protein expressed in the central nervous system that is mainly localized in the pre-synaptic neurons and is involved in the modulation of synaptic neurotransmitter release. The anomalous functio…

0301 basic medicineMaleMicrocephalyMutation MissenseCase ReportNerve Tissue ProteinsBioinformaticsRisk AssessmentSeverity of Illness Index03 medical and health sciences0302 clinical medicineRare DiseasesSeizuresmedicineHumansGenetic Predisposition to DiseaseGenetic TestingExome sequencingGenetic Association StudiesBenign familial infantile epilepsyDysmorphic featuresbusiness.industryEpileptic encephalopathylcsh:RJ1-570InfantMembrane Proteinslcsh:PediatricsParoxysmal dyskinesiamedicine.diseaseBody Dysmorphic DisordersPrognosisPRRT2 mutationMagnetic Resonance Imaging030104 developmental biologyDyskinesiaMicrocephalymedicine.symptomPRRT2 mutation Dysmorphic features Microcephaly Epileptic encephalopathybusinessMyoclonus030217 neurology & neurosurgeryPRRT2Benign infantile epilepsy
researchProduct

Oligodendrocytes support axonal transport and maintenance via exosome secretion

2020

Neurons extend long axons that require maintenance and are susceptible to degeneration. Long-term integrity of axons depends on intrinsic mechanisms including axonal transport and extrinsic support from adjacent glial cells. The mechanisms of support provided by myelinating oligodendrocytes to underlying axons are only partly understood. Oligodendrocytes release extracellular vesicles (EVs) with properties of exosomes, which upon delivery to neurons improve neuronal viability in vitro. Here, we show that oligodendroglial exosome secretion is impaired in 2 mouse mutants exhibiting secondary axonal degeneration due to oligodendrocyte-specific gene defects. Wild-type oligodendroglial exosomes …

0301 basic medicineMaleMutantHippocampusCentrifugationExosomesAxonal TransportHippocampusMass SpectrometryAnalytical ChemistryMiceMyelin0302 clinical medicineNerve FibersSpectrum Analysis TechniquesAnimal CellsMedicine and Health SciencesBiology (General)Myelin SheathNeuronsLiquid ChromatographyGeneral NeuroscienceChromatographic TechniquesBrainCell biologyChemistrySeparation ProcessesOligodendrogliamedicine.anatomical_structureCell ProcessesPhysical SciencesFemaleCellular TypesCellular Structures and OrganellesAnatomyGeneral Agricultural and Biological SciencesNeurogliaResearch ArticleSignal TransductionMaintenanceQH301-705.5Liquid Chromatography-Mass SpectrometryBiologyResearch and Analysis MethodsExosomeGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesExtracellular VesiclesmedicineAnimalsHumansSecretionVesiclesGeneral Immunology and MicrobiologyWild typeBiology and Life SciencesCell BiologyIn vitroAxonsMicrovesiclesMice Inbred C57BL030104 developmental biologyHEK293 Cellsnervous systemCellular NeuroscienceAxoplasmic transportNeuronUltracentrifugation030217 neurology & neurosurgeryNeuroscience
researchProduct

Treatment with albumin-hydroxyoleic acid complex restores sensorimotor function in rats with spinal cord injury: Efficacy and gene expression regulat…

2017

Sensorimotor dysfunction following incomplete spinal cord injury (SCI) is often characterized by paralysis, spasticity and pain. Previously, we showed that intrathecal (i.t.) administration of the albumin-oleic acid (A-OA) complex in rats with SCI produced partial improvement of these symptoms and that oral 2-hydroxyoleic acid (HOA, a non-hydrolyzable OA analogue), was efficacious in the modulation and treatment of nociception and pain-related anxiety, respectively. Here we observed that intrathecal treatment with the complex albumin-HOA (A-HOA) every 3 days following T9 spinal contusion injury improved locomotor function assessed with the Rotarod and inhibited TA noxious reflex activity in…

0301 basic medicineMaleNociceptionCritical Care and Emergency Medicinelcsh:MedicineGene ExpressionOleic AcidsPharmacologyProstaglandin E synthaseImmune ReceptorsBiochemistry0302 clinical medicineCell SignalingMedicine and Health SciencesMembrane Receptor Signalinglcsh:ScienceSpinal Cord InjurySpinal cord injuryToll-like ReceptorsTrauma MedicineInjections SpinalProstaglandin-E SynthasesExtracellular Matrix ProteinsMultidisciplinaryImmune System ProteinsbiologyTenascin CTenascinComplement ReceptorsImmune Receptor SignalingNociceptionTreatment OutcomeNeurologySpinal CordPhospholipasesmedicine.symptomTraumatic InjuryLocomotionResearch ArticleSignal TransductionTransmembrane ReceptorsImmunologyPainInflammationNerve Tissue ProteinsGrowth Differentiation Factor 10Drug Administration Schedule03 medical and health sciencesAlbuminsmedicineGeneticsAnimalsParalysisSpasticityRats WistarSpinal Cord Injuriesbusiness.industrylcsh:RBiology and Life SciencesProteinsCell BiologyRecovery of Functionmedicine.diseaseNeuroregenerationRats030104 developmental biologyGene Expression RegulationGDF10Rotarod Performance Testbiology.proteinlcsh:QbusinessNeurotrauma030217 neurology & neurosurgeryPLoS ONE
researchProduct

Proteomic Analysis of Brain Region and Sex-Specific Synaptic Protein Expression in the Adult Mouse Brain

2020

Genetic disruption of synaptic proteins results in a whole variety of human neuropsychiatric disorders including intellectual disability, schizophrenia or autism spectrum disorder (ASD). In a wide range of these so-called synaptopathies a sex bias in prevalence and clinical course has been reported. Using an unbiased proteomic approach, we analyzed the proteome at the interaction site of the pre- and postsynaptic compartment, in the prefrontal cortex, hippocampus, striatum and cerebellum of male and female adult C57BL/6J mice. We were able to reveal a specific repertoire of synaptic proteins in different brain areas as it has been implied before. Additionally, we found a region-specific set…

0301 basic medicineMaleProteomicsCerebellumAgingcerebellumProteomehippocampusstriatumHippocampusNerve Tissue ProteinsBiologyArticleSynapse03 medical and health sciences0302 clinical medicinePostsynaptic potentialsynapsemedicinesexAnimalsPrefrontal cortexlcsh:QH301-705.5prefrontal cortexSex CharacteristicsBrainGeneral Medicinemedicine.diseaseMice Inbred C57BL030104 developmental biologymedicine.anatomical_structureGene Ontologylcsh:Biology (General)Autism spectrum disorderSchizophreniaProteomeSynapsesmass spectrometry-based proteomicsautism spectrum disorder (ASD)DDX3XFemaleNeuroscienceSET030217 neurology & neurosurgerySET ; cerebellum ; DDX3X ; striatum ; autism spectrum disorder (ASD) ; hippocampus ; synapse ; sex ; prefrontal cortexCells
researchProduct

Neuroprotective potential of antihyperglycemic drug metformin in streptozocin-induced rat model of sporadic Alzheimer's disease.

2020

Abstract The earliest hallmarks of sporadic Alzheimer's disease (sAD) are impaired glucose metabolism, chronic neuroinflammation, diminished synaptic plasticity and subsequent cognitive decline. The safest antidiabetic drug metformin has shown both glucose metabolism-improving and cognition-enhancing action in type 2 diabetes patients and diabetic model animals. However, metformin has not been previously studied in intracerebroventricular streptozocin (STZ)-induced model of sAD. Therefore, our aim was to assess the preventive action of metformin in sAD model-rats. Firstly, the actions of metformin (75 and 100 mg/kg) on cognitive functions and sociability were examined. Secondly, we wanted t…

0301 basic medicineMaleendocrine system diseasesNerve Tissue ProteinsType 2 diabetesPharmacologyGPI-Linked ProteinsNeuroprotectionStreptozocin03 medical and health sciencesGlycogen Synthase Kinase 30302 clinical medicineCognitionAlzheimer DiseaseMorris Water Maze TestMedicineAnimalsHypoglycemic AgentsCognitive declineRats WistarSocial BehaviorNeuroinflammationInjections IntraventricularPharmacologyGlucose Transporter Type 1Behavior AnimalGlucose Transporter Type 3business.industrydigestive oral and skin physiologyGlucose transporternutritional and metabolic diseasesBrainmedicine.diseaseMetforminMetforminAstrogliosisDisease Models Animal030104 developmental biologyGlucoseNeuroprotective AgentsSynaptic plasticityAcetylcholinesterasebusinessNeuroglia030217 neurology & neurosurgerymedicine.drugEuropean journal of pharmacology
researchProduct

Sex hormones modulate pathogenic processes in experimental traumatic brain injury.

2018

Clinical and animal studies have revealed sex-specific differences in histopathological and neurological outcome after traumatic brain injury (TBI). The impact of perioperative administration of sex steroid inhibitors on TBI is still elusive. Here, we subjected male and female C57Bl/6N mice to the controlled cortical impact (CCI) model of TBI and applied pharmacological inhibitors of steroid hormone synthesis, that is, letrozole (LET, inhibiting estradiol synthesis by aromatase) and finasteride (FIN, inhibiting dihydrotestosterone synthesis by 5α-reductase), respectively, starting 72 h prior CCI, and continuing for a further 48 h after CCI. Initial gene expression analyses showed that andro…

0301 basic medicineMalemedicine.medical_specialtyanimal structuresmedicine.drug_classmedicine.medical_treatmentTropomyosin receptor kinase BTropomyosin receptor kinase ABiochemistryNeuroprotection03 medical and health sciencesCellular and Molecular NeuroscienceMice0302 clinical medicineInternal medicineBrain Injuries TraumaticmedicineAnimalsNerve Growth FactorsSex CharacteristicsbiologyEstradiolbusiness.industryEstrogen AntagonistsBrainDihydrotestosteroneAndrogennervous system diseasesMice Inbred C57BLSteroid hormoneDisease Models Animal030104 developmental biologyEndocrinologynervous systemSex steroidDihydrotestosteronebiology.proteinFemalebusiness030217 neurology & neurosurgeryNeurotrophinmedicine.drugJournal of neurochemistry
researchProduct

Formin 2 links neuropsychiatric phenotypes at young age to an increased risk for dementia

2017

Age-associated memory decline is due to variable combinations of genetic and environmental risk factors. How these risk factors interact to drive disease onset is currently unknown. Here we begin to elucidate the mechanisms by which post-traumatic stress disorder (PTSD) at a young age contributes to an increased risk to develop dementia at old age. We show that the actin nucleator Formin 2 (Fmn2) is deregulated in PTSD and in Alzheimer's disease (AD) patients. Young mice lacking the Fmn2 gene exhibit PTSD-like phenotypes and corresponding impairments of synaptic plasticity, while the consolidation of new memories is unaffected. However, Fmn2 mutant mice develop accelerated age-associated me…

0301 basic medicineMalememoriaAginggenetics [Stress Disorders Post-Traumatic]Diseasegenetics [Neuronal Plasticity]BioinformaticsdemenciaStress Disorders Post-TraumaticMice0302 clinical medicineRisk FactorsNews & ViewsAge of OnsetMice KnockoutNeuronal PlasticitybiologyGeneral NeuroscienceMicrofilament ProteinsNuclear Proteinsgenetics [Nuclear Proteins]FearadultoMiddle AgedAlzheimer's diseasephysiology [Aging]Phenotype3. Good healthPhenotypemiedoFormin 2Forminsgenetics [Aging]estres postraumaticoepidemiology [Stress Disorders Post-Traumatic]AdultHDAC inhibidorpsychology [Dementia]alzheimerForminsNerve Tissue Proteinsepidemiology [Dementia]Affect (psychology)General Biochemistry Genetics and Molecular Biology03 medical and health sciencesHDAC inhibitorMemorygenetics [Dementia]ddc:570medicineDementiaAnimalsHumansenvejecimientoMolecular Biologyphysiology [Memory]General Immunology and MicrobiologyPost-traumatic stress disordermedicine.diseaseYoung age030104 developmental biologyformin 2 protein mouseCase-Control StudiesSynaptic plasticitybiology.proteinDementiagenetics [Microfilament Proteins]complications [Stress Disorders Post-Traumatic]030217 neurology & neurosurgeryHomeostasis
researchProduct

Spinal plasticity with motor imagery practice.

2019

KEY POINTS: While a consensus has now been reached on the effect of motor imagery (MI) – the mental simulation of an action – on motor cortical areas, less is known about its impact on spinal structures. The current study, using H‐reflex conditioning paradigms, examined the effect of a 20 min MI practice on several spinal mechanisms of the plantar flexor muscles. We observed modulations of spinal presynaptic circuitry while imagining, which was even more pronounced following an acute session of MI practice. We suggested that the small cortical output generated during MI may reach specific spinal circuits and that repeating MI may increase the sensitivity of the spinal cord to its effects. T…

0301 basic medicineMalemental-imageryPhysiologypathwaysStimulationIsometric exerciseD1 presynaptic inhibitionSynaptic TransmissionH-Reflex0302 clinical medicineNeuronal PlasticityMotor Cortexmodulationmedicine.anatomical_structureSpinal Cordtriceps surae[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]FemaleFemoral NerveMuscle ContractionAdultia afferentsheteronymous Ia facilitationMovementSensory systemfacilitation03 medical and health sciencesMotor imageryexcitabilityNeuroplasticitymedicineHumansNeurons AfferentMuscle Skeletalsoleusinterneuronsbusiness.industryPeroneal NerveNeural Inhibitionpresynaptic inhibitionSpinal cordElectric StimulationSpine030104 developmental biologyactivationH-reflexbusinessNeuroscience030217 neurology & neurosurgeryCommon peroneal nerveNeuroscienceThe Journal of physiology
researchProduct

Brain circuit-gene expression relationships and neuroplasticity of multisensory cortices in blind children.

2017

Sensory deprivation reorganizes neurocircuits in the human brain. The biological basis of such neuroplastic adaptations remains elusive. In this study, we applied two complementary graph theory-based functional connectivity analyses, one to evaluate whole-brain functional connectivity relationships and the second to specifically delineate distributed network connectivity profiles downstream of primary sensory cortices, to investigate neural reorganization in blind children compared with sighted controls. We also examined the relationship between connectivity changes and neuroplasticity-related gene expression profiles in the cerebral cortex. We observed that multisensory integration areas e…

0301 basic medicineMaleneuroplasticitySensory systemNerve Tissue ProteinsCREBBlindness03 medical and health sciences0302 clinical medicinechildrenNeuroplasticitymedicineGene familyHumansSensory deprivationChildMultidisciplinaryNeuronal Plasticitybiologyfunctional connectivityMultisensory integrationHuman brainSomatosensory CortexBiological Sciences030104 developmental biologymedicine.anatomical_structureGene Expression RegulationCerebral cortexbiology.proteinCREB familyFemaleNerve NetPsychologyNeuroscience030217 neurology & neurosurgery
researchProduct

Studying nerve transfers: Searching for a consensus in nerve axons count

2021

Axonal count is the base for efficient nerve transfer; despite its capital importance, few studies have been published on human material, most research approaches being performed on experimental animal models of nerve injury. Thus, standard analysis methods are still lacking. Quantitative data obtained have to be reproducible and comparable with published data by other research groups. To share results with the scientific community, the standardization of quantitative analysis is a fundamental step. For this purpose, the experiences of the Italian, Austrian, German, Greek, and Iberian-Latin American groups have been compared with each other and with the existing literature to reach a consen…

0301 basic medicineMicrosurgeryNerve injurymedicine.medical_specialtyConsensusFuture studiesResearch groupsStandardizationSettore MED/19 - Chirurgia PlasticaCell Count03 medical and health sciences0302 clinical medicineAnimalsHumansMedicineAutograftsNerve TransferProtocol (science)Fiber countStaining and LabelingNerve transfersbusiness.industryHistological TechniquesExperimental Animal ModelsNerve injuryData scienceAxonsSurgeryEuropeLatin America030104 developmental biologyQuantitative analysis (finance)Fiber count; Microsurgery; Nerve injury; Nerve transfersNerve TransferSurgerymedicine.symptombusiness030217 neurology & neurosurgeryJournal of Plastic, Reconstructive & Aesthetic Surgery
researchProduct