| L-histidine decarboxylase and Tourette's syndrome. | |
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MedLine Citation:
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PMID: 20445167 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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; Harvey S Singer; Donald L Gilbert; Pieter J Hoekstra; Thomas M Morgan; Erin Loring; Katsuhito Yasuno; Thomas Fernandez; Stephan Sanders; Angeliki Louvi; Judy H Cho; Shrikant Mane; Christopher M Colangelo; Thomas Biederer; Richard P Lifton; Murat Gunel; Matthew W State |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2010-05-05 |
Journal Detail:
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Title: The New England journal of medicine Volume: 362 ISSN: 1533-4406 ISO Abbreviation: N. Engl. J. Med. Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-05-20 Completed Date: 2010-05-27 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 0255562 Medline TA: N Engl J Med Country: United States |
Other Details:
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Languages: eng Pagination: 1901-8 Citation Subset: AIM; IM |
Copyright Information:
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2010 Massachusetts Medical Society |
Affiliation:
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Yale University School of Medicine, New Haven, CT 06520, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Mapping Codon, Nonsense* Female Genes, Dominant Genetic Linkage Genetic Predisposition to Disease Haplotypes Histidine Decarboxylase / genetics*, metabolism Humans Male Microsatellite Repeats Pedigree Polymerase Chain Reaction Tourette Syndrome / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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NS016648/NS/NINDS NIH HHS; NS040024/NS/NINDS NIH HHS; R01 NS016648-29/NS/NINDS NIH HHS; R01 NS043520-05/NS/NINDS NIH HHS; R01 NS43520/NS/NINDS NIH HHS; U01 NS040024-08/NS/NINDS NIH HHS; U24 MH068457/MH/NIMH NIH HHS; U24 MH068457-07/MH/NIMH NIH HHS; U24 NS051869-02S1/NS/NINDS NIH HHS; U24 NS051869-02S1/NS/NINDS NIH HHS; UL1 RR024139/RR/NCRR NIH HHS; UL1 RR024139-04/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Codon, Nonsense; EC 4.1.1.22/Histidine Decarboxylase |
| Comments/Corrections | |
Comment In:
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Clin Genet. 2010 Oct;78(4):349-50
[PMID:
20718796
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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