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Massachusetts Medical Society, New England Journal of Medicine, 20(362), p. 1901-1908

DOI: 10.1056/nejmoa0907006

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l-Histidine Decarboxylase and Tourette's Syndrome

Journal article published in 2010 by A. Gulhan Ercan-Sencicek, A. Gulhan Ercan Sencicek, 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 ORCID, Harvey S. Singer, Donald L. Gilbert and other authors.
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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.