L-Histidine Decarboxylase and Tourette's Syndrome

被引：228

作者：

Ercan-Sencicek, A. Gulhan

Stillman, Althea A.

Ghosh, Ananda K. ^{[2
]}

Bilguvar, Kaya

O'Roak, Brian J. ^{[3
]}

Mason, Christopher E. ^{[2
]}

Abbott, Thomas

Gupta, Abha

King, Robert A.

Pauls, David L. ^{[4
]}

Tischfield, Jay A. ^{[5
,6
]}

Heiman, Gary A. ^{[5
,6
]}

Singer, Harvey S. ^{[7
]}

Gilbert, Donald L. ^{[8
,9
]}

Hoekstra, Pieter J. ^{[10
]}

Morgan, Thomas M. ^{[11
]}

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. ^{[1
]}

机构：

[1] Yale Univ, Sch Med, Program Neurogenet, Dept Child Psychiat, New Haven, CT 06520 USA

[2] Cornell Univ, Weill Med Coll, New York, NY 10021 USA

[3] Univ Washington, Seattle, WA 98195 USA

[4] Harvard Univ, Boston, MA 02115 USA

[5] New Jersey Ctr Tourette Syndrome & Associated Dis, Somerville, NJ USA

[6] Rutgers State Univ, Piscataway, NJ USA

[7] Johns Hopkins Univ, Baltimore, MD USA

[8] Univ Cincinnati, Sch Med, Cincinnati, OH USA

[9] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH USA

[10] Univ Groningen, Univ Med Ctr Groningen, Groningen, Netherlands

[11] Vanderbilt Univ, Med Ctr, Nashville, TN USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2010年 / 362卷 / 20期

基金：

美国国家卫生研究院;

关键词：

HISTAMINE; MICE; SCHIZOPHRENIA; COGNITION; EFFICACY; GENOME;

D O I：

10.1056/NEJMoa0907006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1901 / 1908

页数：8

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