Search results for " Cerebellum"

showing 10 items of 18 documents

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma

2018

Recurrent mutations in chromatin modifiers are specifically prevalent in adolescent or adult patients with Sonic hedgehog-associated medulloblastoma (SHH MB). Here, we report that mutations in the acetyltransferase CREBBP have opposing effects during the development of the cerebellum, the primary site of origin of SHH MB. Our data reveal that loss of Crebbp in cerebellar granule neuron progenitors (GNPs) during embryonic development of mice compromises GNP development, in part by downregulation of brain-derived neurotrophic factor (Bdnf). Interestingly, concomitant cerebellar hypoplasia was also observed in patients with Rubinstein-Taybi syndrome, a congenital disorder caused by germline mu…

0301 basic medicineCerebellumCrebbp protein mousemetabolism [Cerebellar Neoplasms]acetyltransferase; cerebellum; CREBBP; development; Rubinstein-Taybi syndrome; SHH medulloblastomagenetics [Hedgehog Proteins]MiceNeurotrophic factorsmetabolism [CREB-Binding Protein]Mice KnockoutNeuronsRubinstein-Taybi Syndromepathology [Rubinstein-Taybi Syndrome]CREBBPCREB-Binding ProteinPhenotypegenetics [CREB-Binding Protein]3. Good healthpathology [Cerebellar Neoplasms]acetyltransferasePhenotypemedicine.anatomical_structuregenetics [Rubinstein-Taybi Syndrome]Femalemetabolism [Hedgehog Proteins]Signal TransductionSHH medulloblastomaAdultcerebellumBiologyGeneral Biochemistry Genetics and Molecular BiologyCREBBP; Rubinstein-Taybi syndrome; SHH medulloblastoma; acetyltransferase; cerebellum; development.03 medical and health sciencesGermline mutationAcetyltransferasesmetabolism [Medulloblastoma]medicineAnimalsHumansgenetics [Cerebellar Neoplasms]Hedgehog Proteinsddc:610Cerebellar NeoplasmsdevelopmentMolecular BiologyMedulloblastomaRubinstein–Taybi syndromegenetics [Medulloblastoma]metabolism [Rubinstein-Taybi Syndrome]pathology [Medulloblastoma]Cell Biologymedicine.disease030104 developmental biologyMutationphysiology [CREB-Binding Protein]Cancer researchSHH protein humanCerebellar hypoplasia (non-human)metabolism [Acetyltransferases]CREBBP protein humanMedulloblastomaDevelopmental BiologyCongenital disorderDevelopmental Cell
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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
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Repetitive TMS of cerebellum interferes with millisecond time processing

2007

Time processing is important in several cognitive and motor functions, but it is still unclear how the human brain perceives time intervals of different durations. Processing of time in millisecond and second intervals may depend on different neural networks and there is now considerable evidence to suggest that these intervals are possibly measured by independent brain mechanisms. Using repetitive transcranial magnetic stimulation (rTMS), we determined that the cerebellum is essential in explicit temporal processing of millisecond time intervals. In the first experiment, subjects' performance in a time reproduction task of short (400-600 ms) and long (1,600-2,400 ms) intervals, were evalua…

AdultMaleCerebellumData InterpretationTime perception; Timing; Transcranial magnetic stimulation; rTMS; Cerebellummedicine.medical_treatmentPrefrontal CortexStimulationTime perception Timing Transcranial magnetic stimulation rTMS CerebellumMagnetic Resonance Imaging; Humans; Adult; Cerebellum; Time Perception; Data Interpretation Statistical; Prefrontal Cortex; Transcranial Magnetic Stimulation; Male; Functional Laterality; FemaleFunctional LateralityNOCerebellum; rTMS; Time perception; Timing; Transcranial magnetic stimulation;CerebellumrTMSmedicineHumansTimingPrefrontal cortexMillisecondNeuroscience (all)Settore M-PSI/02 - Psicobiologia E Psicologia Fisiologicamusculoskeletal neural and ocular physiologyGeneral NeuroscienceMemoriaHuman brainTime perceptionStatisticalMagnetic Resonance ImagingTranscranial Magnetic StimulationTranscranial magnetic stimulationmedicine.anatomical_structurenervous systemData Interpretation StatisticalTime PerceptionFemaleSettore MED/26 - NeurologiaPsychologyNeuroscienceHuman
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Increased facilitation of the primary motor cortex following 1 Hz repetitive transcranial magnetic stimulation of the contralateral cerebellum in nor…

2005

Connections between the cerebellum and the contralateral motor cortex are dense and important, but their physiological significance is difficult to measure in humans. We have studied a group of 10 healthy subjects to test whether a modulation of the excitability of the left cerebellum can affect the excitability of the contralateral motor cortex. We used repetitive transcranial magnetic stimulation (rTMS) at 1 Hz frequency to transiently depress the excitability of the left cerebellar cortex and paired-pulse TMS testing of intracortical inhibition (ICI) and intracortical facilitation (ICF) to probe the excitability of cortico-cortical connections in the right motor cortex. The cortical sile…

AdultMaleCerebellumTMS Cerebellum Motor cortex Motor evoked potentialsmedicine.medical_treatmentbehavioral disciplines and activitiesSynaptic TransmissionMotor evoked potentialsFunctional LateralityNOCerebellar CortexPurkinje CellsCerebellum; Motor cortex; Motor evoked potentials; TMS;Reference ValuesCerebellumNeural PathwaysmedicineReaction TimeHumansEvoked PotentialsSettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicamusculoskeletal neural and ocular physiologyGeneral NeuroscienceInterstimulus intervalMotor CortexNeural InhibitionEvoked Potentials MotorTranscranial Magnetic StimulationElectric StimulationTranscranial magnetic stimulationElectrophysiologyReference Values; Humans; Cerebellum; Neural Inhibition; Electric Stimulation; Cerebellar Cortex; Purkinje Cells; Motor Cortex; Evoked Potentials Motor; Adult; Neural Pathways; Transcranial Magnetic Stimulation; Synaptic Transmission; Female; Functional Laterality; Male; Reaction Time; Cerebellar Nucleimedicine.anatomical_structurenervous systemMotorCerebellar NucleiTMSCerebellar cortexSilent periodSettore MED/26 - NeurologiaFemalePrimary motor cortexPsychologyNeurosciencepsychological phenomena and processesMotor cortexNeuroscience letters
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The what and how of observational learning

2007

Abstract Neuroimaging evidence increasingly supports the hypothesis that the same neural structures subserve the execution, imagination, and observation of actions. We used repetitive transcranial magnetic stimulation (rTMS) to investigate the specific roles of cerebellum and dorsolateral prefrontal cortex (DLPFC) in observational learning of a visuomotor task. Subjects observed an actor detecting a hidden sequence in a matrix and then performed the task detecting either the previously observed sequence or a new one. rTMS applied over the cerebellum before the observational training interfered with performance of the new sequence, whereas rTMS applied over the DLPFC interfered with performa…

AdultMaleCognitive Neurosciencemedicine.medical_treatmentrTMS cerebellum DLPFCPrefrontal CortexExperimental and Cognitive PsychologyCognitive neurosciencecerebellum; frontal cortex; observational learning; tmsbehavioral disciplines and activitiesTask (project management)NOBehavioral NeuroscienceMental ProcessesNeuroimagingtmsReference ValuesCerebellummental disordersmedicineBiological neural networkHumansObservational learningReference Values; Analysis of Variance; Humans; Cerebellum; Neural Inhibition; Prefrontal Cortex; Motor Skills; Imitative Behavior; Problem Solving; Social Perception; Imagination; Mental Processes; Adult; Transcranial Magnetic Stimulation; Female; MaleProblem SolvingAnalysis of VarianceSettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicafrontal cortexNeural InhibitionCognitionImitative BehaviorTranscranial Magnetic StimulationDorsolateral prefrontal cortexTranscranial magnetic stimulationobservational learningmedicine.anatomical_structureSocial Perceptionnervous systemMotor SkillsImaginationSettore MED/26 - NeurologiaFemalePsychologyNeurosciencepsychological phenomena and processesCognitive psychology
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Hypo-excitability of cortical areas in patients affected by Friedreich ataxia: A TMS study

2005

The aim of the study was to explore excitability of a motor and a non-motor (visual) area in patients affected by Friedreich ataxia and to correlate neurophysiological data with clinical parameters. Seven patients (3M/4F) and ten healthy controls (5M/5F) participated in the study. The hot-spot for activation of right abductor pollicis brevis was checked by means of a figure-of-eight coil and the motor threshold (MT) on this point was recorded. The phosphene threshold (PT) was measured by means of a focal coil over the occipital cortex as the lower intensity of magnetic stimulation able to induce the perception of phosphenes. The patients showed a significantly higher mean PT (p<.03) and MT …

AdultMalemedicine.medical_specialtyCerebellumAtaxiaAdolescentPhosphenesCentral nervous system diseaseMagneticsCortical excitability TMS Cerebellum Friedreich ataxia Visual cortex Motor cortex Hypo-excitabilityInternal medicineSensory thresholdCortex (anatomy)medicineHumansVisual CortexBrain MappingMotor Cortexmedicine.diseaseElectric StimulationSurgerymedicine.anatomical_structurePhospheneVisual cortexNeurologyFriedreich AtaxiaSensory ThresholdsCardiologyFemaleNeurology (clinical)medicine.symptomTrinucleotide Repeat ExpansionPsychologyMotor cortexJournal of the Neurological Sciences
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Cerebellar Contribution to Mental Rotation: a cTBS Study

2013

A cerebellar role in spatial information processing has been advanced even in the absence of physical manipulation, as occurring in mental rotation. The present study was aimed at investigating the specific involvement of left and right cerebellar hemispheres in two tasks of mental rotation. We used continuous theta burst stimulation to downregulate cerebellar hemisphere excitability in healthy adult subjects performing two mental rotation tasks: an Embodied Mental Rotation (EMR) task, entailing an egocentric strategy, and an Abstract Mental Rotation (AMR) task entailing an allocentric strategy. Following downregulation of left cerebellar hemisphere, reaction times were slower in comparison…

AdultMalemedicine.medical_specialtyCerebellumNeurologyRotationmedicine.medical_treatmentCTBSStimulationctbsStimulus (physiology)behavioral disciplines and activitiesFunctional LateralityMental rotationNOYoung AdultMental ProcessesMENTAL ROTATIONCerebellumCerebellar hemisphereReaction TimemedicineHumansAnalysis of VarianceSettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicaallocentric-egocentric strategy; mental rotation; ctbs; cerebellumTranscranial Magnetic StimulationTranscranial magnetic stimulationmedicine.anatomical_structureallocentric-egocentric strategyNeurologyTMSFemaleNeurology (clinical)PsychologyNeurosciencePsychomotor PerformanceCognitive psychologyThe Cerebellum
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Shaping pseudoneglect with transcranial cerebellar direct current stimulation and music listening

2015

Non-invasive brain stimulation modulates cortical excitability depending on the initial activation state of the structure being stimulated. Combination of cognitive with neurophysiological stimulations has been successfully employed to modulate responses of specific brain regions. The present research combined a neurophysiological pre-conditioning with a cognitive conditioning stimulation to modulate behavior. We applied this new state-dependency approach to investigate the cerebellar role in musical and spatial information processing, given that a link between musical perception and visuo-spatial abilities and a clear cerebellar involvement in music perception and visuo-spatial tasks have …

Attentional shiftCerebellumtcDCScerebellumStimulationbehavioral disciplines and activitieslcsh:RC321-571state dependencyBehavioral NeuroscienceCerebellar hemispheremedicineActive listeninglcsh:Neurosciences. Biological psychiatry. NeuropsychiatryBiological PsychiatryOriginal ResearchCerebellum; Music listening; Pseudoneglect; State dependency; tcDCS; Psychiatry and Mental Health; Neurology; Biological Psychiatry; Behavioral Neuroscience; Neuropsychology and Physiological PsychologySettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicacerebellum; music listening; pseudoneglect; state dependency; tcDCSCognitionNeurophysiologyhumanitiesPsychiatry and Mental healthNeuropsychology and Physiological Psychologymedicine.anatomical_structureNeurologyBrain stimulationSettore MED/26 - Neurologiamusic listeningPsychologyNeurosciencestate dependency; cerebellum; music listening; tcDCS; pseudoneglectNeurosciencepseudoneglect
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Cerebellum and Prematurity: A Complex Interplay Between Disruptive and Dysmaturational Events.

2021

The cerebellum plays a critical regulatory role in motor coordination, cognition, behavior, language, memory, and learning, hence overseeing a multiplicity of functions. Cerebellar development begins during early embryonic development, lasting until the first postnatal years. Particularly, the greatest increase of its volume occurs during the third trimester of pregnancy, which represents a critical period for cerebellar maturation. Preterm birth and all the related prenatal and perinatal contingencies may determine both dysmaturative and lesional events, potentially involving the developing cerebellum, and contributing to the constellation of the neuropsychiatric outcomes with several impl…

CerebellumCognitive NeuroscienceNeuroscience (miscellaneous)Neurosciences. Biological psychiatry. NeuropsychiatryReviewThird trimestercerebellar underdevelopment03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineDevelopmental Neuroscience030225 pediatricsmedicinecerebellar hemorrhage; cerebellar infarction; cerebellar underdevelopment; cerebellum and neurodevelopment; early intervention; prematurityCerebellar infarctionPregnancybusiness.industryprematurityCognitionDeveloping cerebellummedicine.diseasecerebellar hemorrhageMotor coordinationcerebellum and neurodevelopmentearly interventionmedicine.anatomical_structurenervous systemCerebellar hemorrhagebusinessNeurosciencecerebellar infarction030217 neurology & neurosurgeryNeuroscienceRC321-571
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The role of transcranial magnetic stimulation in the study of cerebellar cognitive function.

2007

Transcranial magnetic stimulation (TMS) allows non-invasive stimulation of brain structures. This technique can be used either for stimulating the motor cortex, recording motor evoked potentials from peripheral muscles, or for modulating the excitability of other non-motor areas in order to establish their necessity for a given task. TMS of the cerebellum can give interesting insights on the cerebellar functions. Paired-TMS techniques, delivering stimuli over the cerebellum followed at various interstimulus intervals by stimuli over the motor cortex, allow studying the pattern of connectivity between the cerebellum and the contralateral motor cortex in physiological as well as in pathologic…

CerebellumElementary cognitive taskAnimals; Humans; Cerebellum; Transcranial Magnetic Stimulation; Cognitionmedicine.medical_treatmentCerebellum; Cognitive functions; TMS;Muscle memorybehavioral disciplines and activitiesProcedural memoryNOCognitionCerebellummedicineAnimalsHumanscerebellum; cognitive functions; tmsWorking memoryCognitionTranscranial Magnetic StimulationCognitive functionsTranscranial magnetic stimulationmedicine.anatomical_structurenervous systemNeurologyTMSSettore MED/26 - NeurologiaNeurology (clinical)PsychologyNeuroscienceMotor cortexCerebellum (London, England)
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