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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. Copyright © 2010 Massachusetts Medical Society. All rights reserved.

Original publication

DOI

10.1056/NEJMoa0907006

Type

Journal article

Journal

New England Journal of Medicine

Publication Date

20/05/2010

Volume

362

Pages

1901 - 1908