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
Mispatterning and interneuron deficit in Tourette Syndrome basal ganglia organoids
Brady M, Mariani J, Koca Y, Szekely A, King R, Bloch M, Landeros-Weisenberger A, Leckman J, Vaccarino F. Mispatterning and interneuron deficit in Tourette Syndrome basal ganglia organoids. Molecular Psychiatry 2022, 27: 5007-5019. PMID: 36447010, PMCID: PMC9949887, DOI: 10.1038/s41380-022-01880-5.Peer-Reviewed Original ResearchConceptsTourette syndromeInterneuron deficitsGABAergic interneuronsHealthy controlsNeurodevelopmental underpinningsNeuropathological deficitsBG circuitryNeuropsychiatric disordersDecreased differentiationT patientsInterneuronsAltered expressionPotential mechanismsCilia disruptionSonic hedgehogOrganoidsStem cellsTS individualsPluripotent stem cellsGli transcription factorsDeficitsOrganoid differentiationEarly stagesCholinergicPatientsCellular 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
Targeted ablation of cholinergic interneurons in the dorsolateral striatum produces behavioral manifestations of Tourette syndrome
Xu M, Kobets A, Du JC, Lennington J, Li L, Banasr M, Duman RS, Vaccarino FM, DiLeone RJ, Pittenger C. Targeted ablation of cholinergic interneurons in the dorsolateral striatum produces behavioral manifestations of Tourette syndrome. Proceedings Of The National Academy Of Sciences Of The United States Of America 2015, 112: 893-898. PMID: 25561540, PMCID: PMC4311862, DOI: 10.1073/pnas.1419533112.Peer-Reviewed Original ResearchConceptsTourette syndromeCholinergic interneuronsDorsolateral striatumSensorimotor gatingD-amphetamine challengeLarge cholinergic interneuronsSpecific cell ablationInterneuron deficitsStriatal interneuronsAcute administrationGABAergic markersDopaminergic drugsAvailable treatmentsPostmortem studiesPrepulse inhibitionTic disordersSevere diseaseHuman putamenMotor coordinationInterneuronsTargeted ablationSevere endStriatumAcute stressGilles deChapter 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
2013
Cellular and Molecular Pathology in Tourette Syndrome
Vaccarino F, Kataoka-Sasaki Y, Lennington J. Cellular and Molecular Pathology in Tourette Syndrome. 2013, 205-220. DOI: 10.1093/med/9780199796267.003.0010.Chapters
2009
Decreased number of parvalbumin and cholinergic interneurons in the striatum of individuals with Tourette syndrome
Kataoka Y, Kalanithi PS, Grantz H, Schwartz ML, Saper C, Leckman JF, Vaccarino FM. Decreased number of parvalbumin and cholinergic interneurons in the striatum of individuals with Tourette syndrome. The Journal Of Comparative Neurology 2009, 518: 277-291. PMID: 19941350, PMCID: PMC2846837, DOI: 10.1002/cne.22206.Peer-Reviewed Original ResearchConceptsMedium spiny neuronsCholinergic interneuronsTourette syndromeNormal controlsCholinergic striatal interneuronsNumber of parvalbuminBrains of patientsCaudate nucleus volumeUnbiased stereological analysisStriatal interneuronsOngoing motor behaviorCholinergic cellsTotal neuronsCholine acetyltransferaseSpiny neuronsLimbic regionsStriatum of individualsTS patientsPostmortem brainsThalamic controlSensorimotor regionsInterneuronsCellular abnormalitiesNeuron firingTS subjects
2006
Annotation: Tourette syndrome: a relentless drumbeat – driven by misguided brain oscillations
Leckman JF, Vaccarino FM, Kalanithi PS, Rothenberger A. Annotation: Tourette syndrome: a relentless drumbeat – driven by misguided brain oscillations. Journal Of Child Psychology And Psychiatry 2006, 47: 537-550. PMID: 16712630, DOI: 10.1111/j.1469-7610.2006.01620.x.Peer-Reviewed Original ResearchConceptsTourette syndromeNormal central nervous system functionCentral nervous system functionNeural oscillationsAberrant neural oscillationsSuccessful behavioral treatmentNervous system functionMotor actionsSurgical interventionThalamocortical rhythmsElectrophysiological effectsElectrophysiological findingsSensorimotor gatingSensory urgeSynaptic plasticityTic suppressionAmeliorative effectBehavioral treatmentMotor responsePrefrontal cortexAberrant oscillationsCoherent network activityEffective modulatorPrefrontal regionsRecent evidence
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