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L-Histidine Decarboxylase and Tourette's Syndrome

2010; Massachusetts Medical Society; Volume: 362; Issue: 20 Linguagem: Inglês

10.1056/nejmoa0907006

1533-4406

A. Gulhan Ercan‐Sencicek, Althea Stillman, Ananda K. Ghosh, Kaya Bilgüvar, Brian J. O’Roak, Christopher E. Mason, Thomas Abbott, Abha R. 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 Günel, Matthew W. State,

Obsessive-Compulsive Spectrum Disorders

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.