2013
Chapter Six Genetic Susceptibility and Neurotransmitters in Tourette Syndrome
Paschou P, Fernandez TV, Sharp F, Heiman GA, Hoekstra PJ. Chapter Six Genetic Susceptibility and Neurotransmitters in Tourette Syndrome. International Review Of Neurobiology 2013, 112: 155-177. PMID: 24295621, PMCID: PMC4471172, DOI: 10.1016/b978-0-12-411546-0.00006-8.ChaptersConceptsGene expression findingsExpression findingsEtiology of TSGenetic workTwo-generation pedigreeTs phenotypeMolecular baseGenetic contributionTourette syndromeLikely interactionsMultifactorial inheritanceSegregation studiesNeurotransmitter systemsAutosomal dominant disorderGenetic factorsDynamic interplayGenetic susceptibilityNew treatment optionsExtracellular dopamine levelsGamma-aminobutyric acidDominant disorderGenesTreatment optionsCortico-striatoDopamine levels
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