L-Histidine Decarboxylase and Tourette's Syndrome

被引:232
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
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
收藏
页码:1901 / 1908
页数:8
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