L-histidine decarboxylase and Tourette's syndrome

A. Gulhan Ercan-Sencicek; Althea A. Stillman; Ananda K. Ghosh; Kaya Bilguvar; Brian J. 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 Sanders; Angeliki Louvi; Judy H. Cho; Shrikant Mane; Christopher M. Colangelo; Thomas Biederer; Richard P. Lifton; Murat Gunel; Matthew W. State

doi:10.1056/NEJMoa0907006

L-histidine decarboxylase and Tourette's syndrome

A. Gulhan Ercan-Sencicek, Althea A. Stillman, Ananda K. Ghosh, Kaya Bilguvar, Brian J. 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

Johns Hopkins Hospital

Research output: Contribution to journal › Article › peer-review

223 Scopus citations

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 language	English (US)
Pages (from-to)	1901-1908
Number of pages	8
Journal	New England Journal of Medicine
Volume	362
Issue number	20
DOIs	https://doi.org/10.1056/NEJMoa0907006
State	Published - May 20 2010

ASJC Scopus subject areas

Medicine(all)

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10.1056/NEJMoa0907006

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Ercan-Sencicek, A. G., Stillman, A. A., Ghosh, A. K., Bilguvar, K., O'Roak, B. J., Mason, C. E., Abbott, T., Gupta, A., King, R. A., Pauls, D. L., Tischfield, J. A., Heiman, G. A., Singer, H. S., Gilbert, D. L., Hoekstra, P. J., Morgan, T. M., Loring, E., Yasuno, K., Fernandez, T., ... 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

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 2010, 'L-histidine decarboxylase and Tourette's syndrome', New England Journal of Medicine, vol. 362, no. 20, pp. 1901-1908. https://doi.org/10.1056/NEJMoa0907006

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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.",

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AU - Ercan-Sencicek, A. Gulhan

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AU - Ghosh, Ananda K.

AU - Bilguvar, Kaya

AU - O'Roak, Brian J.

AU - Mason, Christopher E.

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AU - Gupta, Abha

AU - King, Robert A.

AU - Pauls, David L.

AU - Tischfield, Jay A.

AU - Heiman, Gary A.

AU - Singer, Harvey S.

AU - Gilbert, Donald L.

AU - Hoekstra, Pieter J.

AU - Morgan, Thomas M.

AU - Loring, Erin

AU - Yasuno, Katsuhito

AU - Fernandez, Thomas

AU - Sanders, Stephan

AU - Louvi, Angeliki

AU - Cho, Judy H.

AU - Mane, Shrikant

AU - Colangelo, Christopher M.

AU - Biederer, Thomas

AU - Lifton, Richard P.

AU - Gunel, Murat

AU - State, Matthew W.

PY - 2010/5/20

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AB - 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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L-histidine decarboxylase and Tourette's syndrome

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