L-histidine decarboxylase and Tourette's syndrome.
paper
Cited
Public
- Authors
- Ercan-Sencicek, A Gulhan; Stillman, Althea A; Ghosh, Ananda K; Bilguvar, Kaya; O'Roak, Brian J; Mason, Christopher E; Abbott, Thomas; Gupta, Abha; King, Robert A; Pauls, David L; Tischfield, Jay A; Heiman, Gary A; Singer, Harvey S; Gilbert, Donald L; Hoekstra, Pieter J; Morgan, Thomas M; Loring, Erin; Yasuno, Katsuhito; Fernandez, Thomas; Sanders, Stephan; Louvi, Angeliki; Cho, Judy H; Mane, Shrikant; Colangelo, Christopher M; Biederer, Thomas; Lifton, Richard P; Gunel, Murat; State, Matthew W
- Year
- 2010
- Journal
- The New England journal of medicine
- PMID
- 20445167
- DOI
- 10.1056/NEJMoa0907006
- PMCID
- PMC2894694
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.
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