L-Histidine Decarboxylase and Tourette's Syndrome

Ercan-Sencicek A. G., Stillman A. A., Ghosh A. K., Bilguvar K., O'Roak B. J., Mason C. E., ...Daha Fazla

NEW ENGLAND JOURNAL OF MEDICINE, cilt.362, sa.20, ss.1901-1908, 2010 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 362 Sayı: 20
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1056/nejmoa0907006
  • Dergi Adı: NEW ENGLAND JOURNAL OF MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1901-1908
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.