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 riskVariantsDe 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 ConsortiumCohortVariants
2015
Meta-Analysis: Risk of Tics Associated With Psychostimulant Use in Randomized, Placebo-Controlled Trials
Cohen SC, Mulqueen JM, Ferracioli-Oda E, Stuckelman ZD, Coughlin CG, Leckman JF, Bloch MH. Meta-Analysis: Risk of Tics Associated With Psychostimulant Use in Randomized, Placebo-Controlled Trials. Journal Of The American Academy Of Child & Adolescent Psychiatry 2015, 54: 728-736. PMID: 26299294, DOI: 10.1016/j.jaac.2015.06.011.Peer-Reviewed Original ResearchConceptsWorsening of ticsRisk of ticsAttention-deficit/hyperactivity disorderPlacebo-controlled trialNew onsetDuration of treatmentPsychostimulant usePsychostimulant medicationNew-onset ticsType of psychostimulantsParallel-group trialStratified subgroup analysisSide effect dataTreatment of childrenAge of participantsPlacebo groupAdverse eventsCrossover studyPsychostimulant treatmentTic symptomsRisk ratioSubgroup analysisFamily historyGroup trialsPubMed search
2010
Severe psychosocial stress and heavy cigarette smoking during pregnancy: an examination of the pre- and perinatal risk factors associated with ADHD and Tourette syndrome
Motlagh MG, Katsovich L, Thompson N, Lin H, Kim YS, Scahill L, Lombroso PJ, King RA, Peterson BS, Leckman JF. Severe psychosocial stress and heavy cigarette smoking during pregnancy: an examination of the pre- and perinatal risk factors associated with ADHD and Tourette syndrome. European Child & Adolescent Psychiatry 2010, 19: 755-764. PMID: 20532931, PMCID: PMC3932440, DOI: 10.1007/s00787-010-0115-7.Peer-Reviewed Original ResearchConceptsHeavy maternal smokingPerinatal risk factorsAttention-deficit/hyperactivity disorderSevere psychosocial stressRisk factorsMaternal smokingTourette syndromePsychosocial stressUnaffected control childrenControl childrenHeavy cigarette smokingHigh-risk populationStatistical significanceDiagnosis of ADHDComorbid Tourette's syndromeHigh rateMothers of childrenMaternal report dataHeavy smokingPerinatal historyCigarette smokingOdds ratioPsychiatric assessmentSmokingStandardized questionnaire
2008
Neuropsychiatric Disorders Associated With Streptococcal Infection: A Case-Control Study Among Privately Insured Children
Leslie DL, Kozma L, Martin A, Landeros A, Katsovich L, King RA, Leckman JF. Neuropsychiatric Disorders Associated With Streptococcal Infection: A Case-Control Study Among Privately Insured Children. Journal Of The American Academy Of Child & Adolescent Psychiatry 2008, 47: 1166-1172. PMID: 18724258, PMCID: PMC2783578, DOI: 10.1097/chi.0b013e3181825a3d.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAttention Deficit Disorder with HyperactivityCase-Control StudiesChildChild, PreschoolCross-Sectional StudiesDepressive Disorder, MajorFemaleHealth SurveysHumansIncidenceInsurance, HealthMaleMigraine DisordersNeurocognitive DisordersObsessive-Compulsive DisorderOdds RatioOtitis MediaRiskSinusitisStreptococcal InfectionsTic DisordersTourette SyndromeUnited StatesConceptsMajor depressive disorderAttention-deficit/hyperactivity disorderPrior streptococcal infectionStreptococcal infectionObsessive-compulsive disorderTic disordersTourette syndromeNeuropsychiatric disordersConditional logistic regression modelsStreptococcal sore throatDiagnosis of OCDCase-control studyLogistic regression modelsSore throatIncident diagnosisEpidemiologic evidenceDepressive disorderSubsequent diagnosisNoninfectious conditionsScarlet feverChildren ages 4Immune systemInfectious diseasesInfectionDiagnosis
2006
A Controlled Family Study of Attention-Deficit/Hyperactivity Disorder and Tourette's Disorder
STEWART SE, ILLMANN C, GELLER DA, LECKMAN JF, KING R, PAULS DL. A Controlled Family Study of Attention-Deficit/Hyperactivity Disorder and Tourette's Disorder. Journal Of The American Academy Of Child & Adolescent Psychiatry 2006, 45: 1354-1362. PMID: 17075358, DOI: 10.1097/01.chi.0000251211.36868.fe.Peer-Reviewed Original Research
2005
A family study of early‐onset obsessive‐compulsive disorder
do Rosario‐Campos M, Leckman JF, Curi M, Quatrano S, Katsovitch L, Miguel EC, Pauls DL. A family study of early‐onset obsessive‐compulsive disorder. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2005, 136B: 92-97. PMID: 15892140, DOI: 10.1002/ajmg.b.30149.Peer-Reviewed Original ResearchConceptsObsessive-compulsive disorderRecurrence riskChronic ticsFirst-degree family membersChildhood-onset obsessive-compulsive disorderDiagnosis of OCDChronic tic disorderStandardized semi-structured interviewFirst-degree relativesEarly-onset casesOnset obsessive-compulsive disorderDSM-IV criteriaEarly-onset obsessive-compulsive disorderBest-estimate processRandom digit dialingHigh comorbid ratesAge of onsetFamily studiesHigh genetic loadingMean ageSpecialty clinicTic disordersComorbid ratesValid subgroupsCase relatives