2017
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome
Huang AY, Yu D, Davis LK, Sul JH, Tsetsos F, Ramensky V, Zelaya I, Ramos EM, Osiecki L, Chen JA, McGrath LM, Illmann C, Sandor P, Barr CL, Grados M, Singer HS, Nöthen MM, Hebebrand J, King RA, Dion Y, Rouleau G, Budman CL, Depienne C, Worbe Y, Hartmann A, Müller-Vahl KR, Stuhrmann M, Aschauer H, Stamenkovic M, Schloegelhofer M, Konstantinidis A, Lyon GJ, McMahon WM, Barta C, Tarnok Z, Nagy P, Batterson JR, Rizzo R, Cath DC, Wolanczyk T, Berlin C, Malaty IA, Okun MS, Woods DW, Rees E, Pato CN, Pato MT, Knowles JA, Posthuma D, Pauls DL, Cox NJ, Neale BM, Freimer NB, Paschou P, Mathews CA, Scharf JM, Coppola G, Genetics T, Bruun R, Chouinard S, Darrow S, Greenberg E, Hirschtritt M, de la Tourette Syndrome GWAS Replication Initiative T, Kurlan R, Leckman J, Robertson M, Smit J. Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. Neuron 2017, 94: 1101-1111.e7. PMID: 28641109, PMCID: PMC5568251, DOI: 10.1016/j.neuron.2017.06.010.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultCalcium-Binding ProteinsCase-Control StudiesCell Adhesion Molecules, NeuronalChildContactinsDNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleNerve Tissue ProteinsNeural Cell Adhesion MoleculesOdds RatioTourette SyndromeWhite PeopleYoung AdultConceptsCopy number variantsRare copy number variantsSignificant lociGenome-wide significant lociWide significant lociRare structural variationAncestry-matched controlsSNP microarray dataGlobal CNV burdenEuropean ancestry samplesGenetic architectureUnderlying genetic causeMicroarray dataNumber variantsTS casesCNV burdenSingleton eventsGenetic causeStructural variationsLociPathogenic copy number variantsAbnormal developmentModel neuropsychiatric disorderTS riskVariants
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
2005
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rašin M, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Šestan N, State MW. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome. Science 2005, 310: 317-320. PMID: 16224024, DOI: 10.1126/science.1116502.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAdolescentAnimalsAttention Deficit Disorder with HyperactivityBrainChildChild, PreschoolChromosome InversionChromosome MappingChromosomes, Human, Pair 13DNADNA Mutational AnalysisFemaleFrameshift MutationHumansIn Situ Hybridization, FluorescenceMaleMembrane ProteinsMiceMutationNerve Tissue ProteinsPedigreeSequence Analysis, DNATourette SyndromeConceptsSequence variantsTourette syndromeChromosomal inversionsFrameshift mutantsCandidate genesExpression patternsControl chromosomesPrimary neuronal culturesFrameshift mutationSLITRK1Independent occurrenceMotor ticsDevelopmental neuropsychiatric disordersChronic vocalNeuronal culturesIdentical variantsUnrelated probandsBrain regionsNeuropsychiatric disordersSyndrome
1995
[123I]beta-CIT SPECT imaging of striatal dopamine transporter binding in Tourette's disorder
Malison RT, McDougle CJ, van Dyck CH, Scahill L, Baldwin RM, Seibyl JP, Price LH, Leckman JF, Innis RB. [123I]beta-CIT SPECT imaging of striatal dopamine transporter binding in Tourette's disorder. American Journal Of Psychiatry 1995, 152: 1359-1361. PMID: 7653693, DOI: 10.1176/ajp.152.9.1359.Peer-Reviewed Original ResearchConceptsTourette's disorderComparison subjectsDisorder patientsGender-matched healthy comparison subjectsStriatal dopamine transporter bindingStriatal dopamine transporter densityCIT SPECT imagingDopamine transporter levelsDopamine transporter densityDopamine transporter bindingPresynaptic dopamine functionTourette's disorder patientsPost-mortem findingsHealthy comparison subjectsSingle photon emissionBeta-carbomethoxy-3 betaAdult patientsCIT bindingPost-mortem resultsTransporter bindingDopamine functionTransporter densityTransporter levelsSPECT imagingDisorders