L-histidine decarboxylase and Tourette's syndrome Academic Article uri icon

Overview

MeSH Major

  • Codon, Nonsense
  • Histidine Decarboxylase
  • Tourette Syndrome

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.

publication date

  • May 20, 2010

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC2894694

Digital Object Identifier (DOI)

  • 10.1056/NEJMoa0907006

PubMed ID

  • 20445167

Additional Document Info

start page

  • 1901

end page

  • 8

volume

  • 362

number

  • 20