2013
Brain Human Monoclonal Autoantibody from Sydenham Chorea Targets Dopaminergic Neurons in Transgenic Mice and Signals Dopamine D2 Receptor: Implications in Human Disease
Cox CJ, Sharma M, Leckman JF, Zuccolo J, Zuccolo A, Kovoor A, Swedo SE, Cunningham MW. Brain Human Monoclonal Autoantibody from Sydenham Chorea Targets Dopaminergic Neurons in Transgenic Mice and Signals Dopamine D2 Receptor: Implications in Human Disease. The Journal Of Immunology 2013, 191: 5524-5541. PMID: 24184556, PMCID: PMC3848617, DOI: 10.4049/jimmunol.1102592.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntigens, BacterialAutoantibodiesBasal GangliaChildChoreaCross ReactionsDopamineDopaminergic NeuronsG(M1) GangliosideHEK293 CellsHumansImmunoglobulin GMiceMice, Inbred C57BLMice, TransgenicReceptors, Dopamine D2Recombinant Fusion ProteinsRheumatic FeverSignal TransductionStreptococcal InfectionsTransgenesConceptsSydenham's choreaDopamine D2 receptorsDopaminergic neuronsD2 receptorsTransgenic micePediatric autoimmune neuropsychiatric disordersDose-dependent inhibitoryMain neurologic manifestationsAutoimmune neuropsychiatric disordersBehavioral disordersHuman monoclonal autoantibodiesBrain AgsNeurologic manifestationsRheumatic feverChoreiform movementsTg miceBasal gangliaHuman dopamine D2 receptorAb reactivityTyrosine hydroxylaseAutoantibodiesB cellsMonoclonal autoantibodiesNeuropsychiatric disordersD2R
2007
Frontal dopaminergic abnormality in Tourette syndrome: A postmortem analysis
Yoon DY, Gause CD, Leckman JF, Singer HS. Frontal dopaminergic abnormality in Tourette syndrome: A postmortem analysis. Journal Of The Neurological Sciences 2007, 255: 50-56. PMID: 17337006, DOI: 10.1016/j.jns.2007.01.069.Peer-Reviewed Original ResearchConceptsTourette syndromeDopamine transporterReceptor densityPathophysiology of TSAlpha-adrenergic receptorsSex-matched controlsD2 receptor densityPostmortem brain tissueFrontal regionsDopaminergic dysfunctionNeurochemical abnormalitiesDopaminergic abnormalitiesNeurochemical markersTS patientsFrontal cortexSemiquantitative immunoblottingFrontal lobeBrain tissueTS subjectsTerminal markersOccipital regionAbnormalitiesVesicular dockingPathophysiologySyndrome
1996
Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test.
Grice DE, Leckman JF, Pauls DL, Kurlan R, Kidd KK, Pakstis AJ, Chang FM, Buxbaum JD, Cohen DJ, Gelernter J. Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test. American Journal Of Human Genetics 1996, 59: 644-52. PMID: 8751866, PMCID: PMC1914894.Peer-Reviewed Original ResearchConceptsTourette syndromeChronic multiple ticsMultiple ticsTransmission disequilibrium test (TDT) methodsDopaminergic abnormalitiesFamily triosTransmission disequilibrium testReceptor locusSyndromeDopamine D4 receptor locusFunctional mutationsFunctional studiesCommon allelesAllelesPathogenesisParticular allelesDifferent binding propertiesAbnormalities
1994
D2 Dopamine Receptor Alleles Do Not Influence Severity of Tourette's Syndrome: Results From Four Large Kindreds
Gelernter J, Pauls DL, Leckman J, Kidd KK, Kurlan R. D2 Dopamine Receptor Alleles Do Not Influence Severity of Tourette's Syndrome: Results From Four Large Kindreds. JAMA Neurology 1994, 51: 397-400. PMID: 8155017, DOI: 10.1001/archneur.1994.00540160099012.Peer-Reviewed Original ResearchMeSH KeywordsAllelesGenetic LinkageHeterozygoteHomozygoteHumansReceptors, Dopamine D2Severity of Illness IndexTourette Syndrome