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.
Original language | English (US) |
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Pages (from-to) | 1901-1908 |
Number of pages | 8 |
Journal | New England Journal of Medicine |
Volume | 362 |
Issue number | 20 |
DOIs | |
State | Published - May 20 2010 |
ASJC Scopus subject areas
- Medicine(all)