2023
Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome
Tsetsos F, Topaloudi A, Jain P, Yang Z, Yu D, Kolovos P, Tumer Z, Rizzo R, Hartmann A, Depienne C, Worbe Y, Müller-Vahl K, Cath D, Boomsma D, Wolanczyk T, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Padmanabhuni S, Buxbaum J, Grice D, Glennon J, Stefansson H, Hengerer B, Yannaki E, Stamatoyannopoulos J, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Mir P, Morer A, Mueller N, Munchau A, Plessen K, Porcelli C, Roessner V, Walitza S, Schrag A, Martino D, Group T, TSAICG T, Barr C, Batterson J, Berlin C, Budman C, Coppola G, Cox N, Darrow S, Dion Y, Freimer N, Grados M, Greenberg E, Hirschtritt M, Huang A, Illmann C, King R, Kurlan R, Leckman J, Lyon G, Malaty I, McMahon W, Neale B, Okun M, Osiecki L, Robertson M, Rouleau G, Sandor P, Singer H, Smit J, Sul J, Initiative T, Androutsos C, Basha E, Farkas L, Fichna J, Janik P, Kapisyzi M, Karagiannidis I, Koumoula A, Nagy P, Puchala J, Szejko N, Szymanska U, Tsironi V, Group T, Apter A, Ball J, Bodmer B, Bognar E, Buse J, Vela M, Fremer C, Garcia-Delgar B, Gulisano M, Hagen A, Hagstrøm J, Madruga-Garrido M, Pellico A, Ruhrman D, Schnell J, Silvestri P, Skov L, Steinberg T, Gloor F, Turner V, Weidinger E, Network T, Alexander J, Aranyi T, Buisman W, Buitelaar J, Driessen N, Drineas P, Fan S, Forde N, Gerasch S, van den Heuvel O, Jespersgaard C, Kanaan A, Möller H, Nawaz M, Nespoli E, Pagliaroli L, Poelmans G, Pouwels P, Rizzo F, Veltman D, van der Werf Y, Widomska J, Zilhäo N, Group T, Brown L, Cheon K, Coffey B, Fernandez T, Gilbert D, Hong H, Ibanez-Gomez L, Kim E, Kim Y, Kim Y, Koh Y, Kook S, Kuperman S, Leventhal B, Maras A, Murphy T, Shin E, Song D, Song J, State M, Visscher F, Wang S, Zinner S, Tischfield J, Heiman G, Willsey A, Dietrich A, Davis L, Crowley J, Mathews C, Scharf J, Georgitsi M, Hoekstra P, Paschou P. Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome. Biological Psychiatry 2023, 96: 114-124. PMID: 36738982, PMCID: PMC10783199, DOI: 10.1016/j.biopsych.2023.01.023.Peer-Reviewed Original ResearchExpression quantitative trait lociGenome-wide significant lociWide association study dataComplex genetic architectureQuantitative trait lociAssociation study dataGenetic architectureTrait lociChromosome 5q15Significant lociSignificant enrichmentLociNovel insightsNeurodevelopmental disordersChildhood-onset neurodevelopmental disorderHistonesRNAsGenesPolygenic riskFuture studiesEnrichment
2022
Neuroimmunoendocrinology of Tourette Syndrome
Martino D, Johnson I, Escobar A, Leckman J. Neuroimmunoendocrinology of Tourette Syndrome. 2022, 257-276. DOI: 10.1093/med/9780197543214.003.0016.Peer-Reviewed Original ResearchTourette syndromeImmune-modulatory interventionsImmune competent cellsGeneration of ticsCortico-subcortical circuitsNormal brain developmentNeuroimmune interactionsKey molecular pathwaysGut dysbiosisAllergic illnessHigh riskImmune pathwaysPostnatal lifeTherapeutic interventionsImmune primingImmune systemRelated disordersNeural circuitsBrain developmentNeurodevelopmental disordersDisordersMolecular pathwaysSyndromeDate summaryMolecular mechanisms
2017
De Novo Coding Variants Are Strongly Associated with Tourette Disorder
Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J, Sanders SJ, Mandell JD, Huang AY, Richer P, Smith L, Dong S, Samocha KE, Genetics T, Abdulkadir M, Bohnenpoll J, Bromberg Y, Brown L, Cheon K, Coffey B, Deng L, Dietrich A, Dong S, Elzerman L, Fernandez T, Fründt O, Garcia-Delgar B, Gedvilaite E, Gilbert D, Grice D, Hagstrøm J, Hedderly T, Heiman G, Heyman I, Hoekstra P, Hong H, Huyser C, Ibanez-Gomez L, Kim Y, Kim Y, King R, Koh Y, Kook S, Kuperman S, Lamerz A, Leventhal B, Ludolph A, da Silva C, Madruga-Garrido M, Mandell J, Maras A, Mir P, Morer A, Münchau A, Murphy T, Nasello C, Openneer T, Plessen K, Richer P, Roessner V, Sanders S, Shin E, Sival D, Smith L, Song D, Song J, State M, Stolte A, Sun N, Tischfield J, Tübing J, Visscher F, Walker M, Wanderer S, Wang S, Willsey A, Woods M, Xing J, Zhang Y, Zhou A, Zinner S, Genetics T, Barr C, Batterson J, Berlin C, Bruun R, Budman C, Cath D, Chouinard S, Coppola G, Cox N, Darrow S, Davis L, Dion Y, Freimer N, Grados M, Hirschtritt M, Huang A, Illmann C, Kurlan R, Leckman J, Lyon G, Malaty I, Mathews C, MaMahon W, Neale B, Okun M, Osiecki L, Pauls D, Posthuma D, Ramensky V, Robertson M, Rouleau G, Sandor P, Scharf J, Singer H, Smit J, Sul J, Yu D, Neale B, Coppola G, Mathews C, Tischfield J, Scharf J, State M, Heiman G. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron 2017, 94: 486-499.e9. PMID: 28472652, PMCID: PMC5769876, DOI: 10.1016/j.neuron.2017.04.024.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingTourette's disorderDamaging variantsLikely gene-disrupting variantsComplex neurodevelopmental disorderClinical casesUnrelated probandsNeurodevelopmental disordersDe novo damaging variantsDisordersRisk genesGenetic cohortsConsistent evidenceCoding variantReplication sampleProbandsInternational ConsortiumCohortVariantsGilles de la Tourette syndrome
Robertson MM, Eapen V, Singer HS, Martino D, Scharf JM, Paschou P, Roessner V, Woods DW, Hariz M, Mathews CA, Črnčec R, Leckman JF. Gilles de la Tourette syndrome. Nature Reviews Disease Primers 2017, 3: 16097. PMID: 28150698, DOI: 10.1038/nrdp.2016.97.Peer-Reviewed Original ResearchConceptsAttention-deficit/hyperactivity disorderFunctional brain anomaliesObsessive-compulsive disorderChildhood-onset neurodevelopmental disorderPathogenesis of GTSHyperactivity disorderMultiple common risk variantsNeurobiological dataConsiderable social stigmaNeural circuit levelTourette syndromeBehavioral methodsGilles deNeurodevelopmental disordersYears of ageFuture researchSocial stigmaBrain anomaliesPhonic ticsNeuropsychiatric disordersTargeted interventionsClinical phenotypeDisordersFunctional neurosurgeryDe novo mutations
2015
Cognitive computer training in children with attention deficit hyperactivity disorder (ADHD) versus no intervention: study protocol for a randomized controlled trial
Bikic A, Leckman JF, Lindschou J, Christensen TØ, Dalsgaard S. Cognitive computer training in children with attention deficit hyperactivity disorder (ADHD) versus no intervention: study protocol for a randomized controlled trial. Trials 2015, 16: 480. PMID: 26499057, PMCID: PMC4619562, DOI: 10.1186/s13063-015-0975-8.Peer-Reviewed Original ResearchConceptsAttention deficit hyperactivity disorderDeficit hyperactivity disorderCognitive functionCognitive trainingCognitive dysfunctionHyperactivity disorderComputer trainingSymptoms of inattentionMultiple cognitive functionsCommon neurodevelopmental disorderBackgroundAttention deficit hyperactivity disorderEveryday lifeCognitive skillsADHD symptomsNeurodevelopmental disordersYoung childrenWeeks of trainingPharmacological treatmentTrainingChildrenClinical superiority trialPoor generalizationLong-term effectsControl groupIntervention group
2014
Clinical features of Tourette syndrome and tic disorders
Leckman JF, King RA, Bloch MH. Clinical features of Tourette syndrome and tic disorders. Journal Of Obsessive-Compulsive And Related Disorders 2014, 3: 372-379. PMID: 30197854, PMCID: PMC6124690, DOI: 10.1016/j.jocrd.2014.03.004.Peer-Reviewed Original ResearchTourette syndromeTic disordersLong-term clinical courseLong-term outcomesAge 10 yearsAttention deficit hyperactivity disorderCo-occurring conditionsClinical courseClinical featuresObsessive-compulsive disorderTic symptomsVisual-motor integrationVocal ticsPsychosocial stressMost childrenCourse of monthsLiterature searchRelevant articlesMotor integrationStereotyped movementsHyperactivity disorderEarly adulthoodDisordersNeurodevelopmental disordersSensory stimuli
2011
Involvement of immunologic and biochemical mechanisms in the pathogenesis of Tourette’s syndrome
Landau YE, Steinberg T, Richmand B, Leckman JF, Apter A. Involvement of immunologic and biochemical mechanisms in the pathogenesis of Tourette’s syndrome. Journal Of Neural Transmission 2011, 119: 621-626. PMID: 22139323, PMCID: PMC3936959, DOI: 10.1007/s00702-011-0739-x.Peer-Reviewed Original ResearchConceptsTourette syndrome groupTourette syndromeSyndrome groupHealthy age-matched control subjectsTertiary pediatric medical centerAge-matched control subjectsIgG-4 levelsPediatric medical centerNovel therapeutic modalitiesNon-ceruloplasmin copperQuantitative immunoglobulinsImmunological markersControl subjectsHealthy childrenMedical recordsPhonic ticsMedical CenterTherapeutic modalitiesControl groupBiochemical markersSyndromeDemographic dataBiochemical indicesOxidative stressNeurodevelopmental disorders
2008
Genes Controlling Affiliative Behavior as Candidate Genes for Autism
Yrigollen CM, Han SS, Kochetkova A, Babitz T, Chang JT, Volkmar FR, Leckman JF, Grigorenko EL. Genes Controlling Affiliative Behavior as Candidate Genes for Autism. Biological Psychiatry 2008, 63: 911-916. PMID: 18207134, PMCID: PMC2386897, DOI: 10.1016/j.biopsych.2007.11.015.Peer-Reviewed Original ResearchMeSH KeywordsAnalysis of VarianceAsperger SyndromeAutistic DisorderBehaviorChildDopamine beta-HydroxylaseFamily HealthFemaleGenetic LinkageGenetic Predisposition to DiseaseGenetic VariationGenotypeHumansMaleOrganizational AffiliationOxytocinProlactinProto-Oncogene Proteins c-fosReceptors, OxytocinReceptors, ProlactinConceptsHeterogeneous genetic factorsAllelic associationCandidate genesAssociation analysisGenetic linkageManifestation of ASDGenesGenetic variantsAllelic variantsFBAT softwareGenetic factorsComplex etiologyIndependent replicationNeurodevelopmental disordersOXTR geneAffiliative behaviorMultiple facetsVariantsPRLRPhenotypeHypothesis