@article{1720e5e7f0b14ea6afe82ba7590b8dd4,
title = "L-Histidine Decarboxylase and Tourette's Syndrome",
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.",
keywords = "HISTAMINE, MICE, SCHIZOPHRENIA, COGNITION, EFFICACY, GENOME",
author = "Ercan-Sencicek, {A. Gulhan} and Stillman, {Althea A.} and Ghosh, {Ananda K.} and Kaya Bilguvar and O'Roak, {Brian J.} and Mason, {Christopher E.} and Thomas Abbott and Abha Gupta and King, {Robert A.} and Pauls, {David L.} and Tischfield, {Jay A.} and Heiman, {Gary A.} and Singer, {Harvey S.} and Gilbert, {Donald L.} and Hoekstra, {Pieter J.} and Morgan, {Thomas M.} and Erin Loring and Katsuhito Yasuno and Thomas Fernandez and Stephan Sanders and Angeliki Louvi and Cho, {Judy H.} and Shrikant Mane and Colangelo, {Christopher M.} and Thomas Biederer and Lifton, {Richard P.} and Murat Gunel and State, {Matthew W.}",
year = "2010",
month = may,
day = "20",
doi = "10.1056/NEJMoa0907006",
language = "English",
volume = "362",
pages = "1901--1908",
journal = "New England Journal of Medicine",
issn = "0028-4793",
publisher = "MASSACHUSETTS MEDICAL SOC",
number = "20",
}