2025
Chapter 53 Tourette syndrome
Abdallah S, Fasching L, Brady M, Bloch M, Lombroso P, Vaccarino F, Fernandez T. Chapter 53 Tourette syndrome. 2025, 951-962. DOI: 10.1016/b978-0-443-19176-3.00044-3.Peer-Reviewed Original ResearchTourette syndromeCortico-striatal-thalamo-cortical circuitryStriatal volume lossAdult TS patientsNeuroimaging studiesNeuropsychiatric disordersDopaminergic receptorsVocal ticsStriatal interneuronsClasses of striatal interneuronsBasal gangliaMetabolic hypofunctionEnvironmental risk factorsTS patientsAmeliorate symptomsGenetic contributionMolecular abnormalitiesPharmacological strategiesCircuitryAffecting 1Animal modelsRisk factorsInterneuronal circuitryVolume lossAbnormalities
2020
Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling
Heiman GA, Rispoli J, Seymour C, Leckman JF, King RA, Fernandez TV. Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling. Frontiers In Neurology 2020, 11: 770. PMID: 32849224, PMCID: PMC7432137, DOI: 10.3389/fneur.2020.00770.Peer-Reviewed Original ResearchChronic tic disorderRecurrence risk estimatesTic disordersRecurrence riskTourette's disorderRisk estimatesNeuropsychiatric disordersPopulation-based family studyGenetic counselingFirst-degree relativesQuality of lifeFamily studiesVocal ticsPopulation prevalenceFamilial recurrence riskSuch counselingGenetic testingDisordersRiskCounselingEmpiric recurrence riskGenetic variantsRange of risksHeterogeneous genetic architectureComorbidities
2018
Chapter 23 Tourette disorder and other tic disorders
Fernandez TV, State MW, Pittenger C. Chapter 23 Tourette disorder and other tic disorders. Handbook Of Clinical Neurology 2018, 147: 343-354. PMID: 29325623, DOI: 10.1016/b978-0-444-63233-3.00023-3.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsAssociation studiesLarge-effect variantsCandidate gene association studiesGene association studiesGenomewide association studiesSubstantial genetic contributionMultiple genesDevelopmental neuropsychiatric conditionsComplex neuropsychiatric disorderGenetic variantsGenetic contributionRare mutationsTic disordersGenomewide significanceTourette's disorderGenesEnvironmental factorsAccumulated evidenceLarge patient cohortPatient cohortMotor ticsInadequate sample sizePositive findingsNeuropsychiatric conditionsNeuropsychiatric disorders
2015
Tourette Syndrome: Bridging the Gap between Genetics and Biology
Richer P, Fernandez TV. Tourette Syndrome: Bridging the Gap between Genetics and Biology. Complex Psychiatry 2015, 1: 156-164. PMID: 26509143, PMCID: PMC4617782, DOI: 10.1159/000439085.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsGenetic studiesNeuropsychiatric disordersGenetic complexityInvolvement of dopaminergicPrecise therapeutic targetsChildhood neuropsychiatric disordersAttention deficit hyperactivity disorderGenetic overlapGenetic alterationsBiologyDeficit hyperactivity disorderHistaminergic pathwayObsessive-compulsive disorderHigh comorbidityVocal ticsCurrent treatmentTherapeutic targetTourette syndromePhenotypeHyperactivity disorderImproved treatmentDisordersDiseaseTreatmentGeneticsGenetics of Tourette Syndrome
Lennington J, Coppola G, Fernandez T. Genetics of Tourette Syndrome. 2015, 169-189. DOI: 10.1007/978-3-319-17223-1_9.ChaptersGene networksBiological pathwaysGenetic variantsStructural genetic variantsTranscriptomic variationReplication of associationBioinformatics analysisRecent profilingSubstantial genetic contributionMultiple genesCandidate genesGene expressionComplex neuropsychiatric disorderGenesGenetic contributionRare mutationsGenetic etiologyStructural variationsPathwayRare sequencesEnvironmental factorsNeuropsychiatric disordersDevelopmental neuropsychiatric disordersTS casesGenetics
2014
The inheritance of Tourette Disorder: A review
Pauls DL, Fernandez TV, Mathews CA, State MW, Scharf JM. The inheritance of Tourette Disorder: A review. Journal Of Obsessive-Compulsive And Related Disorders 2014, 3: 380-385. PMID: 25506544, PMCID: PMC4260404, DOI: 10.1016/j.jocrd.2014.06.003.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsGenetic variationGenome-wide associationGenetic mechanismsBiological pathwaysCausative genesCase-control sampleNumber variantsCommon variantsMultigenerational familiesGenetic factorsRecent studiesFamilyBroad spectrumGenesVariantsFamilial clusteringInheritanceNeuropsychiatric disordersNumerous studiesPathwayVariationGeorges Gilles deCytogenetic abnormalitiesNuclear families
2010
L-Histidine Decarboxylase and Tourette's Syndrome
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-Histidine Decarboxylase and Tourette's Syndrome. New England Journal Of Medicine 2010, 362: 1901-1908. PMID: 20445167, PMCID: PMC2894694, DOI: 10.1056/nejmoa0907006.Peer-Reviewed Original ResearchConceptsRare functional mutationsL-histidine decarboxylaseRate-limiting enzymeHDC geneTwo-generation pedigreeFunctional mutationsStrong genetic contributionHistamine biosynthesisAnalysis of linkageGenetic contributionModel systemRisk allelesDevelopmental neuropsychiatric disordersDecarboxylaseBiosynthesisGenesTourette syndromeMutationsAllelesEnzymeInheritanceNeuropsychiatric disordersPedigree