Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

Schara U., Christen H., Durmus H., Hietala M., Krabetz K., Rodolico C., ...Daha Fazla

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.14, sa.4, ss.326-333, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 4
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1016/j.ejpn.2009.09.009
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.326-333
  • Anahtar Kelimeler: Congenital myasthenic syndromes, Choline acetyltransferase, CHAT, Repetitive stimulation test, Acetylcholinesterase, Inhibitors, CHOLINE-ACETYLTRANSFERASE, EPISODIC APNEA, STRATEGIES
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous inherited disorders of the neuromuscular junction. Mutations in the acetylcholine transferase (CHAT) gene cause a pre-synaptic CMS, typically associated with episodic apnoea and worsening of myasthenic symptoms during crises caused by infections, fever or stress. Between crises symptoms may be mild and variable. Acetylcholinesterase inhibitor therapy is reported to improve clinical symptoms and reduce crises.