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L-Histidine Decarboxylase and Tourette's SyndromeBrief Report

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

in Chromosomes / Families & family life / Genetic testing / Haplotypes / Health risk assessment / Mental disorders / Mutation / Neuroses / Obsessive compulsive disorder / Proteins / Risk factors / Tourette syndrome

2010

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2010

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2010

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Journal Article

L-Histidine Decarboxylase and Tourette's SyndromeBrief Report

Gilbert, Donald L,

Mane, Shrikant,

Pauls, David L,

Abbott, Thomas,

Fernandez, Thomas,

State, Matthew W,

Biederer, Thomas,

Gupta, Abha,

Cho, Judy H,

Yasuno, Katsuhito,

King, Robert A,

Singer, Harvey S,

O'Roak, Brian J,

Tischfield, Jay A,

Hoekstra, Pieter J,

Lifton, Richard P,

Morgan, Thomas M,

Sanders, Stephan,

Stillman, Althea A,

Loring, Erin,

Louvi, Angeliki,

Colangelo, Christopher M,

Bilguvar, Kaya,

Ercan-Sencicek, A Gulhan,

Gunel, Murat,

Ghosh, Ananda K,

Mason, Christopher E,

Heiman, Gary A

2010

Overview

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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Publisher

Massachusetts Medical Society

Subject

Chromosomes

/ Families & family life

/ Genetic testing

/ Haplotypes

/ Health risk assessment

/ Mental disorders

/ Mutation