Congenital endplate acetylcholinesterase deficiency responsive to ephedrine

Maria Bestue-Cardiel, A. Saenz De Cabezon-Alvarez, J. L. Capablo-Liesa, J. López-Pisón, J. L. Peña-Segura, J. Martin-Martinez, A. G. Engel

Research output: Contribution to journalArticlepeer-review

57 Scopus citations

Abstract

The authors describe two patients with congenital myasthenic syndrome (CMS) with end plate acetylcholinesterase (AChE) deficiency caused by mutations in the collagenic tail (ColQ) of AChE: a homozygous C-terminal Y230S mutation in Patient 1 and Y430S and a C-terminal splice-site mutation in Patient 2. In Patient 1, a Prostigmin (neostigmine bromide) test failed to distinguish between AChE deficiency and a slow-channel CMS. Both patients responded dramatically to ephedrine therapy.

Original languageEnglish (US)
Pages (from-to)144-146
Number of pages3
JournalNeurology
Volume65
Issue number1
DOIs
StatePublished - Jul 12 2005

ASJC Scopus subject areas

  • Clinical Neurology

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