2025
Chapter 53 Tourette syndrome
Abdallah S, Fasching L, Brady M, Bloch M, Lombroso P, Vaccarino F, Fernandez T. Chapter 53 Tourette syndrome. 2025, 951-962. DOI: 10.1016/b978-0-443-19176-3.00044-3.Peer-Reviewed Original ResearchTourette syndromeCortico-striatal-thalamo-cortical circuitryStriatal volume lossAdult TS patientsNeuroimaging studiesNeuropsychiatric disordersDopaminergic receptorsVocal ticsStriatal interneuronsClasses of striatal interneuronsBasal gangliaMetabolic hypofunctionEnvironmental risk factorsTS patientsAmeliorate symptomsGenetic contributionMolecular abnormalitiesPharmacological strategiesCircuitryAffecting 1Animal modelsRisk factorsInterneuronal circuitryVolume lossAbnormalities
2022
Cellular and Molecular Pathology in Tourette Syndrome
Fasching L, Brady M, Vaccarino F. Cellular and Molecular Pathology in Tourette Syndrome. 2022, 171-183. DOI: 10.1093/med/9780197543214.003.0012.ChaptersTourette syndromeBasal gangliaAminobutyric acid-ergic interneuronsActive cholinergic interneuronsPathophysiology of TSCholinergic interneuronsPathological findingsMicroglial cellsTic disordersCaudate nucleusCortical hemispherePathogenic mechanismsInterneuronsSyndromeMolecular pathologyGangliaProminent increaseAvailable literatureInflammationPathophysiologyPutamenFindingsPathology
2020
Chapter 40 Tourette syndrome
Fasching L, Brady M, Bloch M, Lombroso P, Vaccarino F. Chapter 40 Tourette syndrome. 2020, 675-686. DOI: 10.1016/b978-0-12-813866-3.00040-0.ChaptersTourette syndromeThalamic-cortical circuitryHuman postmortem brain tissueThalamo-cortical circuitryAdult TS patientsStriatal volume lossPostmortem brain tissueEnvironmental risk factorsStriatal interneuronsDopaminergic receptorsRecurrence rateAmeliorate symptomsBasal gangliaRisk factorsFamilial recurrence ratePharmacological strategiesVocal ticsTS patientsAnimal modelsMetabolic hypofunctionComplex neuropsychiatric disorderBrain tissueMolecular abnormalitiesNeuropsychiatric disordersGenetic alterations
2015
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice
Frullanti E, Amabile S, Lolli MG, Bartolini A, Livide G, Landucci E, Mari F, Vaccarino FM, Ariani F, Massimino L, Renieri A, Meloni I. Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice. European Journal Of Human Genetics 2015, 24: 252-257. PMID: 25966633, PMCID: PMC4717204, DOI: 10.1038/ejhg.2015.79.Peer-Reviewed Original ResearchConceptsBasal gangliaAdult brainParvalbumin-positive GABAergic interneuronsNeonatal brain developmentWild-type littermatesGroup of neuropeptidesHeterozygous mutant miceHippocampal neurogenesisImpaired social interactionCalcium-dependent signalingTotal brainGABAergic interneuronsNeuronal excitabilityControl of movementHippocampal neuronsArginine vasopressinBehavioral impairmentsWhole brainMammalian forebrainHeterozygous miceMutant miceFOXG1 geneBrain developmentBrainAltered expressionChapter 107 Tourette Syndrome
Lennington J, Bloch M, Scahill L, Szuhay G, Lombroso P, Vaccarino F. Chapter 107 Tourette Syndrome. 2015, 1311-1320. DOI: 10.1016/b978-0-12-410529-4.00107-8.ChaptersTourette syndromeThalamic-cortical circuitryChildhood-onset neuropsychiatric disorderBasal ganglia circuitryStriatal interneuronsAmeliorate symptomsBasal gangliaPharmacological strategiesVocal ticsAnimal modelsPostmortem tissueNeuropsychiatric disordersSyndromeContemporary treatmentHeterogeneous disorderLarge genome-wide association studiesRecent screeningDysfunctionPotential target sitesStereotypic behaviorDisordersGenome-wide association studiesAssociation studiesChemical disruptionDopaminergic
2007
Deficiency in Inhibitory Cortical Interneurons Associates with Hyperactivity in Fibroblast Growth Factor Receptor 1 Mutant Mice
Smith K, Fagel DM, Stevens HE, Rabenstein RL, Maragnoli ME, Ohkubo Y, Picciotto MR, Schwartz ML, Vaccarino FM. Deficiency in Inhibitory Cortical Interneurons Associates with Hyperactivity in Fibroblast Growth Factor Receptor 1 Mutant Mice. Biological Psychiatry 2007, 63: 953-962. PMID: 17988653, DOI: 10.1016/j.biopsych.2007.09.020.Peer-Reviewed Original ResearchMeSH KeywordsAmphetamineAnimalsBehavior, AnimalBiogenic MonoaminesCell CountCentral Nervous System StimulantsCerebral CortexDisease Models, AnimalDopamine AgentsExploratory BehaviorFibroblast Growth Factor 1Glutamate DecarboxylaseHyperkinesisLocomotionMaleMethylphenidateMiceMice, KnockoutMotor ActivityNerve Tissue ProteinsNeural InhibitionNeuronsSignal TransductionConceptsInhibitory cortical circuitsCortical pyramidal neuronsD2 receptor antagonistGrowth factor receptor 1Spontaneous locomotor hyperactivityFibroblast growth factor receptor 1Factor receptor 1Inhibitory neuronal subtypesLocomotor hyperactivityDopamine agonistsCerebral cortexPyramidal neuronsBasal gangliaMotor hyperactivityReceptor antagonistInhibitory interneuronsTyrosine hydroxylaseCortical circuitsPsychiatric disordersLocomotor responseNeuronal subtypesReceptor 1Mutant miceDopamine transporterSpatial learning
2005
Altered parvalbumin-positive neuron distribution in basal ganglia of individuals with Tourette syndrome
Kalanithi PS, Zheng W, Kataoka Y, DiFiglia M, Grantz H, Saper CB, Schwartz ML, Leckman JF, Vaccarino FM. Altered parvalbumin-positive neuron distribution in basal ganglia of individuals with Tourette syndrome. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 13307-13312. PMID: 16131542, PMCID: PMC1201574, DOI: 10.1073/pnas.0502624102.Peer-Reviewed Original ResearchConceptsTourette syndromeNeuron distributionCalcium-binding protein parvalbuminNeuron numberT subjectsLower neuron numberGlobus pallidus pars externaParvalbumin-positive interneuronsTotal neuron numberUnbiased stereological techniquesChildhood neuropsychiatric disordersBasal ganglia tissueGABAergic neuronsGPi neuronsBasal gangliaCortico-striatoGlobus pallidusProtein parvalbuminThalamic circuitryGanglion tissueVocal ticsNormal controlsPutamen volumePars externaImaging studies
2004
Loss of Glutamatergic Pyramidal Neurons in Frontal and Temporal Cortex Resulting from Attenuation of FGFR1 Signaling Is Associated with Spontaneous Hyperactivity in Mice
Shin DM, Korada S, Raballo R, Shashikant CS, Simeone A, Taylor JR, Vaccarino F. Loss of Glutamatergic Pyramidal Neurons in Frontal and Temporal Cortex Resulting from Attenuation of FGFR1 Signaling Is Associated with Spontaneous Hyperactivity in Mice. Journal Of Neuroscience 2004, 24: 2247-2258. PMID: 14999075, PMCID: PMC6730438, DOI: 10.1523/jneurosci.5285-03.2004.Peer-Reviewed Original ResearchMeSH KeywordsAdrenergic alpha-AgonistsAmphetamineAnimalsCell DifferentiationCell DivisionFrontal LobeGlutamic AcidGuanfacineHumansHyperkinesisMiceMice, TransgenicNervous System MalformationsNeural InhibitionPyramidal CellsReceptor Protein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 1Receptors, Adrenergic, alpha-2Receptors, Fibroblast Growth FactorSignal TransductionStereotypic Movement DisorderTemporal LobeConceptsPyramidal neuronsCortical developmentTemporal areaSubcortical monoaminergic systemsGlutamatergic pyramidal neuronsCajal-Retzius cellsCortical GABAergic interneuronsCerebral cortical developmentAdrenergic receptor agonistEmbryonic neural progenitor cellsTemporal cortical areasReceptor gene productsNeural progenitor cellsEmbryonic brain developmentLocomotor hyperactivityRadial glia fibersCerebral cortexGlutamatergic neuronsBasal gangliaGABAergic interneuronsMonoaminergic systemsCortical plateReceptor agonistSpontaneous hyperactivityCortical areas
2000
Basic Fibroblast Growth Factor (Fgf2) Is Necessary for Cell Proliferation and Neurogenesis in the Developing Cerebral Cortex
Raballo R, Rhee J, Lyn-Cook R, Leckman J, Schwartz M, Vaccarino F. Basic Fibroblast Growth Factor (Fgf2) Is Necessary for Cell Proliferation and Neurogenesis in the Developing Cerebral Cortex. Journal Of Neuroscience 2000, 20: 5012-5023. PMID: 10864959, PMCID: PMC6772267, DOI: 10.1523/jneurosci.20-13-05012.2000.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisCell DivisionCerebral CortexChoroid PlexusEmbryonic and Fetal DevelopmentFibroblast Growth Factor 2Gene Expression Regulation, DevelopmentalGerm-Line MutationGestational AgeMiceMice, KnockoutProsencephalonReceptor Protein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 1Receptors, Fibroblast Growth FactorTelencephalonConceptsFgf2 knockout micePseudostratified ventricular epitheliumKnockout miceCerebral cortexCortical neuronsFrontal cerebral cortexDeep cortical layersBasic fibroblast growth factorEnd of neurogenesisCortical neuron numberNeuronal progenitor cellsNull mutant miceBasic fibroblast growth factor (bFGF) geneFibroblast growth factorDegree of apoptosisLarge neuronsBasal gangliaCortical layersFgf2 knockoutGrowth factor geneMutant miceVentricular epitheliumGermline mutationsNeuron numberNeurogenesis