title: Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.
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.
authors: Department of Neurology, Miguel Servet Hospital, Zaragoza, Spain. m.bestue@able.es
authors: M
authors: M
authors: Bestue-Cardiel
authors: A
authors: A
authors: Sáenz de Cabezón-Alvarez
authors: J L
authors: JL
authors: Capablo-Liesa
authors: J
authors: J
authors: López-Pisón
authors: J L
authors: JL
authors: Peña-Segura
authors: J
authors: J
authors: Martin-Martinez
authors: A G
authors: AG
authors: Engel
mesh_terms: D000110:Acetylcholinesterase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D000293:Adolescent; D018663:Adrenergic Agents / Q000494:pharmacology / Q000627:therapeutic use; D002648:Child; D002800:Cholinesterase Inhibitors; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004576:Electromyography; D004809:Ephedrine / Q000494:pharmacology / Q000627:therapeutic use; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000294:innervation / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D009388:Neostigmine; D009469:Neuromuscular Junction / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D017434:Protein Structure, Tertiary / Q000235:genetics; D009435:Synaptic Transmission / Q000187:drug effects / Q000235:genetics
chemical_list: D018663:Adrenergic Agents; D002800:Cholinesterase Inhibitors; D009388:Neostigmine; D000110:Acetylcholinesterase; D004809:Ephedrine