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N Engl J Med. 2010 May 20;362(20):1901-8. doi: 10.1056/NEJMoa0907006. Epub 2010 May 5.

L-histidine decarboxylase and Tourette's syndrome.

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  • 1Yale University School of Medicine, New Haven, CT 06520, USA.

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.

2010 Massachusetts Medical Society

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PMID:
20445167
[PubMed - indexed for MEDLINE]
PMCID:
PMC2894694
Free PMC Article

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