Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.
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.
Bestue-Cardiel
M
M
Department of Neurology, Miguel Servet Hospital, Zaragoza, Spain. m.bestue@able.es
Sáenz de Cabezón-Alvarez
A
A
Capablo-Liesa
J L
JL
López-Pisón
J
J
Peña-Segura
J L
JL
Martin-Martinez
J
J
Engel
A G
AG
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
D018663:Adrenergic Agents; D002800:Cholinesterase Inhibitors; D009388:Neostigmine; D000110:Acetylcholinesterase; D004809:Ephedrine