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
2010
Elevated expression of MCP-1, IL-2 and PTPR-N in basal ganglia of Tourette syndrome cases
Morer A, Chae W, Henegariu O, Bothwell AL, Leckman JF, Kawikova I. Elevated expression of MCP-1, IL-2 and PTPR-N in basal ganglia of Tourette syndrome cases. Brain Behavior And Immunity 2010, 24: 1069-1073. PMID: 20193755, DOI: 10.1016/j.bbi.2010.02.007.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAutopsyBasal GangliaChemokine CCL2FemaleHumansInterferon-gammaInterleukin-1betaInterleukin-2Leukocyte Common AntigensMaleMiddle AgedPolymerase Chain ReactionReceptor-Like Protein Tyrosine Phosphatases, Class 2Receptor-Like Protein Tyrosine Phosphatases, Class 8RecoverinRNATourette SyndromeConceptsMCP-1IL-2Tourette syndromePost-mortem specimenBasal gangliaElevated expressionPost-infectious autoimmunityAdult TS patientsChronic inflammatory processEvidence of inflammationBasal ganglia areaInterleukin-1 βCentral nervous systemChemotactic factor-1TS casesReverse transcription-polymerase chain reaction analysisTranscription-polymerase chain reaction analysisReal-time reverse transcription-polymerase chain reaction analysisBrain tissue sectionsInflammatory factorsControl subjectsGanglia areaInflammatory processInterleukin-2TS patients