2022
Mispatterning and interneuron deficit in Tourette Syndrome basal ganglia organoids
Brady M, Mariani J, Koca Y, Szekely A, King R, Bloch M, Landeros-Weisenberger A, Leckman J, Vaccarino F. Mispatterning and interneuron deficit in Tourette Syndrome basal ganglia organoids. Molecular Psychiatry 2022, 27: 5007-5019. PMID: 36447010, PMCID: PMC9949887, DOI: 10.1038/s41380-022-01880-5.Peer-Reviewed Original ResearchConceptsTourette syndromeInterneuron deficitsGABAergic interneuronsHealthy controlsNeurodevelopmental underpinningsNeuropathological deficitsBG circuitryNeuropsychiatric disordersDecreased differentiationT patientsInterneuronsAltered expressionPotential mechanismsCilia disruptionSonic hedgehogOrganoidsStem cellsTS individualsPluripotent stem cellsGli transcription factorsDeficitsOrganoid differentiationEarly stagesCholinergicPatients
2017
The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family
Sun N, Nasello C, Deng L, Wang N, Zhang Y, Xu Z, Song Z, Kwan K, King R, Pang Z, Xing J, Heiman G, Tischfield J. The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family. Molecular Psychiatry 2017, 23: 1487-1495. PMID: 28894297, PMCID: PMC5847395, DOI: 10.1038/mp.2017.179.Peer-Reviewed Original ResearchConceptsNonsense-mediated mRNA decayNonsense mutationMultiplex familiesPluripotent stem cellsTD phenotypeDeleterious sequence variantsGenetic architectureMRNA decayHouse bioinformatics pipelineDNA sequencesBioinformatics pipelineTD familyWhole-exome sequencingSequence variantsBiochemical assaysMolecular differencesWhole exomeIsoform levelsStem cellsProtein levelsTD etiologyExome sequencingPNKDHeterozygous nonsense mutationGenesGenetic and phenotypic overlap of specific obsessive-compulsive and attention-deficit/hyperactive subtypes with Tourette syndrome
Hirschtritt M, Darrow S, Illmann C, Osiecki L, Grados M, Sandor P, Dion Y, King R, Pauls D, Budman C, Cath D, Greenberg E, Lyon G, Yu D, McGrath L, McMahon W, Lee P, Delucchi K, Scharf J, Mathews C. Genetic and phenotypic overlap of specific obsessive-compulsive and attention-deficit/hyperactive subtypes with Tourette syndrome. Psychological Medicine 2017, 48: 279-293. PMID: 28651666, PMCID: PMC7909616, DOI: 10.1017/s0033291717001672.Peer-Reviewed Original ResearchMeSH KeywordsAttention Deficit Disorder with HyperactivityFamilyHumansObsessive-Compulsive DisorderPhenotypeTourette SyndromeConceptsAttention-deficit/hyperactivity disorderSymmetry/exactnessTourette syndromeLatent class analysisSymptom patternsADHD symptomsHigher psychiatric comorbidity ratesPsychiatric comorbidity ratesExploratory factor analysisHyperactive subtypeComorbidity ratesTS patientsClinical relevanceSpecific subtypesSum scoreUnique phenotypicHyperactivity disorderSymptomsPhenotypic overlapThree-class solutionTraditional diagnostic boundariesAggressive urgesSyndromeSubtypesDiagnostic boundaries
2012
Genome-wide association study of Tourette's syndrome
Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff R, Wagner M, Moessner R, Mirel D, Posthuma D, Sabatti C, Eskin E, Conti D, Knowles J, Ruiz-Linares A, Rouleau G, Purcell S, Heutink P, Oostra B, McMahon W, Freimer N, Cox N, Pauls D. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry 2012, 18: 721-728. PMID: 22889924, PMCID: PMC3605224, DOI: 10.1038/mp.2012.69.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAttention Deficit Disorder with HyperactivityCase-Control StudiesChromosomes, Human, Pair 9FemaleFibrillar CollagensGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansInternational CooperationMaleMeta-Analysis as TopicObsessive-Compulsive DisorderPolymorphism, Single NucleotideTourette SyndromeWhite PeopleYoung AdultConceptsGenome-wide association studiesFirst genome-wide association studyAssociation studiesTop signalsFull genetic architectureAncestry-matched controlsEuropean ancestry samplesGenetic architectureGWAS dataComplex inheritanceEuropean-derived populationsSusceptibility variantsSusceptibility genesEventual identificationEuropean ancestryCosta RicaChromosome 9q32Familial recurrence rateNorth AmericaComplete understandingAmerican populationCentral ValleyNeuropsychiatric diseasesDevelopmental disordersGenes
2001
Antibodies against neural, nuclear, cytoskeletal, and streptococcal epitopes in children and adults with Tourette’s syndrome, Sydenham’s chorea, and autoimmune disorders
Morshed S, Parveen S, Leckman J, Mercadante M, Kiss M, Miguel E, Arman A, Yazgan Y, Fujii T, Paul S, Peterson B, Zhang H, King R, Scahill L, Lombroso P. Antibodies against neural, nuclear, cytoskeletal, and streptococcal epitopes in children and adults with Tourette’s syndrome, Sydenham’s chorea, and autoimmune disorders. Biological Psychiatry 2001, 50: 566-577. PMID: 11690591, DOI: 10.1016/s0006-3223(01)01096-4.Peer-Reviewed Original ResearchConceptsTotal antinuclear antibodiesAntinuclear antibodiesAutoimmune disordersTourette syndromeAnticytoskeletal antibodiesAntineural antibodiesStreptococcal infectionT patientsTS patientsBeta-hemolytic streptococcal infectionPrior streptococcal infectionHemolytic streptococcal infectionAntistreptolysin O titerIndirect immunofluorescent assayLevels of immunoreactivityWestern blot techniqueMean rankClinical characteristicsSydenham's choreaO titerPatient groupSC patientsIgG antibodiesIgG classNormal controlsEmotional and behavioral difficulties associated with Tourette syndrome.
King R, Scahill L. Emotional and behavioral difficulties associated with Tourette syndrome. Advances In Neurology 2001, 85: 79-88. PMID: 11530448.Peer-Reviewed Original Research
1995
Risperidone Treatment of Children and Adolescents with Chronic Tic Disorders: A Preliminary Report
LOMBROSO P, SCAHILL L, KING R, LYNCH K, CHAPPELL P, PETERSON B, McDOUGLE C, LECKMAN J. Risperidone Treatment of Children and Adolescents with Chronic Tic Disorders: A Preliminary Report. Journal Of The American Academy Of Child & Adolescent Psychiatry 1995, 34: 1147-1152. PMID: 7559308, DOI: 10.1097/00004583-199509000-00011.Peer-Reviewed Original ResearchConceptsChronic tic disorderTic disordersObsessive-compulsive disorderChronic motor tic disorderYale Global Tic Severity ScaleDopamine-blocking propertiesOpen-label trialFrequent side effectsEfficacy of risperidoneMotor tic disorderShort-term safetyTic Severity ScaleComorbid obsessive-compulsive disorderYale-Brown Obsessive Compulsive ScaleObsessive Compulsive ScaleClinical responseRisperidone treatmentMean ageTic scoreSeverity ScaleSide effectsTourette syndromeComorbid diagnosesTic frequencyWeight gain
1994
Steroid Hormones and Tourette's Syndrome
PETERSON B, LECKMAN J, SCAHILL L, NAFTOLIN F, KEEFE D, CHAREST N, KING R, HARDIN M, COHEN D. Steroid Hormones and Tourette's Syndrome. Journal Of Clinical Psychopharmacology 1994, 14: 131-135. PMID: 8195454, DOI: 10.1097/00004714-199404000-00008.Peer-Reviewed Original Research
1990
Fluoxetine Treatment of Children and Adolescents with Tourette's and Obsessive Compulsive Disorders: Preliminary Clinical Experience
RIDDLE M, HARDIN M, KING R, SCAHILL L, WOOLSTON J. Fluoxetine Treatment of Children and Adolescents with Tourette's and Obsessive Compulsive Disorders: Preliminary Clinical Experience. Journal Of The American Academy Of Child & Adolescent Psychiatry 1990, 29: 45-48. PMID: 2295577, DOI: 10.1097/00004583-199001000-00008.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAkathisia, Drug-InducedChildFemaleFluoxetineHumansMaleObsessive-Compulsive DisorderTourette SyndromeConceptsObsessive-compulsive disorderPreliminary clinical experiencePrimary obsessive-compulsive disorderTourette syndromeClinical experienceSelective serotonin uptake inhibitorMild gastrointestinal symptomsSerotonin uptake inhibitorEfficacy of fluoxetineCompulsive disorderFluoxetine administrationGastrointestinal symptomsFluoxetine treatmentResponder rateUptake inhibitorFluoxetineObsessive-compulsive symptomsPatientsAdverse effectsFluoxetine hydrochlorideSyndromeChildrenSymptomsOCD groupAdolescents