L-histidine decarboxylase and Tourette's syndrome

A. Gulhan Ercan-Sencicek, Althea A. Stillman, Ananda K. Ghosh, Kaya Bilguvar, Brian O'Roak, Christopher E. Mason, Thomas Abbott, Abha Gupta, Robert A. King, David L. Pauls, Jay A. Tischfield, Gary A. Heiman, Harvey S. Singer, Donald L. Gilbert, Pieter J. Hoekstra, Thomas M. Morgan, Erin Loring, Katsuhito Yasuno, Thomas Fernandez, Stephan SandersAngeliki Louvi, Judy H. Cho, Shrikant Mane, Christopher M. Colangelo, Thomas Biederer, Richard P. Lifton, Murat Gunel, Matthew W. State

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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.

Original languageEnglish (US)
Pages (from-to)1901-1908
Number of pages8
JournalNew England Journal of Medicine
Volume362
Issue number20
DOIs
Publication statusPublished - May 20 2010
Externally publishedYes

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Ercan-Sencicek, A. G., Stillman, A. A., Ghosh, A. K., Bilguvar, K., O'Roak, B., Mason, C. E., ... State, M. W. (2010). L-histidine decarboxylase and Tourette's syndrome. New England Journal of Medicine, 362(20), 1901-1908. https://doi.org/10.1056/NEJMoa0907006