L-histidine decarboxylase and Tourette's syndrome.
N Engl J Med
; 362(20): 1901-8, 2010 May 20.
Article
en En
| MEDLINE
| ID: mdl-20445167
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Tourette
/
Codón sin Sentido
/
Histidina Descarboxilasa
Tipo de estudio:
Prognostic_studies
Límite:
Female
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Humans
/
Male
Idioma:
En
Año:
2010
Tipo del documento:
Article