2. Academic Validation
  3. L-histidine decarboxylase and Tourette's syndrome

L-histidine decarboxylase and Tourette's syndrome

  • N Engl J Med. 2010 May 20;362(20):1901-8. doi: 10.1056/NEJMoa0907006.
A Gulhan Ercan-Sencicek 1,  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
Affiliations

Affiliation

  • 1 Yale University School of Medicine, New Haven, CT 06520, USA.
PMID: 20445167 DOI: 10.1056/NEJMoa0907006
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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