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