title: L-histidine decarboxylase and Tourette's syndrome.
abstract: Tourette's syndrome is a common developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Despite a strong genetic contribution, inheritance is complex, and risk alleles have proven difficult to identify. Here, we describe an analysis of linkage in a two-generation pedigree leading to the identification of a rare functional mutation in the HDC gene encoding L-histidine decarboxylase, the rate-limiting enzyme in histamine biosynthesis. Our findings, together with previously published data from model systems, point to a role for histaminergic neurotransmission in the mechanism and modulation of Tourette's syndrome and tics.
authors.affiliation: Yale University School of Medicine, New Haven, CT 06520, USA.
authors.forename: A Gulhan
authors.initials: AG
authors.lastname: Ercan-Sencicek
authors.forename: Althea A
authors.initials: AA
authors.lastname: Stillman
authors.forename: Ananda K
authors.initials: AK
authors.lastname: Ghosh
authors.forename: Kaya
authors.initials: K
authors.lastname: Bilguvar
authors.forename: Brian J
authors.initials: BJ
authors.lastname: O'Roak
authors.forename: Christopher E
authors.initials: CE
authors.lastname: Mason
authors.forename: Thomas
authors.initials: T
authors.lastname: Abbott
authors.forename: Abha
authors.initials: A
authors.lastname: Gupta
authors.forename: Robert A
authors.initials: RA
authors.lastname: King
authors.forename: David L
authors.initials: DL
authors.lastname: Pauls
authors.forename: Jay A
authors.initials: JA
authors.lastname: Tischfield
authors.forename: Gary A
authors.initials: GA
authors.lastname: Heiman
authors.forename: Harvey S
authors.initials: HS
authors.lastname: Singer
authors.forename: Donald L
authors.initials: DL
authors.lastname: Gilbert
authors.forename: Pieter J
authors.initials: PJ
authors.lastname: Hoekstra
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Morgan
authors.forename: Erin
authors.initials: E
authors.lastname: Loring
authors.forename: Katsuhito
authors.initials: K
authors.lastname: Yasuno
authors.forename: Thomas
authors.initials: T
authors.lastname: Fernandez
authors.forename: Stephan
authors.initials: S
authors.lastname: Sanders
authors.forename: Angeliki
authors.initials: A
authors.lastname: Louvi
authors.forename: Judy H
authors.initials: JH
authors.lastname: Cho
authors.forename: Shrikant
authors.initials: S
authors.lastname: Mane
authors.forename: Christopher M
authors.initials: CM
authors.lastname: Colangelo
authors.forename: Thomas
authors.initials: T
authors.lastname: Biederer
authors.forename: Richard P
authors.initials: RP
authors.lastname: Lifton
authors.forename: Murat
authors.initials: M
authors.lastname: Gunel
authors.forename: Matthew W
authors.initials: MW
authors.lastname: State
mesh_terms: D002874:Chromosome Mapping; D018389:Codon, Nonsense; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006640:Histidine Decarboxylase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D016133:Polymerase Chain Reaction; D005879:Tourette Syndrome / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D006640:Histidine Decarboxylase
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