L-histidine decarboxylase and Tourette's syndrome
Ercan-Sencicek AG., Stillman AA., Ghosh AK., Bilguvar K., O'Roak BJ., Mason CE., Abbott T., Gupta A., King RA., Pauls DL., Tischfield JA., Heiman GA., Singer HS., Gilbert DL., Hoekstra PJ., Morgan TM., Loring E., Yasuno K., Fernandez T., Sanders S., Louvi A., Cho JH., Mane S., Colangelo CM., Biederer T., Lifton RP., Gunel M., State MW.
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. Copyright © 2010 Massachusetts Medical Society. All rights reserved.