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NEUROLOGY 2005;65:144-146
© 2005 American Academy of Neurology
Brief Communications

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine

M. Bestue-Cardiel, MD, A. Sáenz de Cabezón-Alvarez, MD, J. L. Capablo-Liesa, MD, J. López-Pisón, MD, J. L. Peña-Segura, MD, J. Martin-Martinez, MD and A. G. Engel, MD

From the Departments of Neurology (Drs. Bestue-Cardiel, Capablo-Liesa, and Martin-Martinez), Neuropediatrics (Drs. Lopez-Pisón and Peña-Segura), and Neurophysiology (Dr. Sáenz de Cabezón-Alvarez), Miguel Servet Hospital, Zaragoza, Spain; and Department of Neurology and Neuromuscular Research Laboratory (Dr. Engel), Mayo Clinic, Rochester, MN.

Address correspondence and reprints requests to Dr. Maria Bestue Cardiel, Avda/Maria Zambrano 21, Portal 1, 7° B. Zaragoza, 50018 Spain; e-mail: m.bestue{at}able.es

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.

Supported by NIH grant NS6277 and a research grant from the Muscular Dystrophy Association.

Received February 25, 2005. Accepted in final form April 6, 2005.




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