Endplate acetylcholinesterase deficiency

Common Name(s)

Endplate acetylcholinesterase deficiency

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. Endplate acetylcholinesterase deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction (NMJ). Mutations in COLQ result in a deficiency of acetylcholinesterase (AChE), which causes prolonged synaptic currents and action potentials due to extended residence of acetylcholine in the synaptic space. Treatment with ephedrine may be beneficial; AChE inhibitors and amifampridine should be avoided (summary by {4:Engel et al., 2015}). For a discussion of genetic heterogeneity of CMS, see CMS1A ({601462}).
 

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Condition Specific Organizations

Following organizations serve the condition "Endplate acetylcholinesterase deficiency" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Endplate acetylcholinesterase deficiency" returned 4 free, full-text research articles on human participants. First 3 results:

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
 

Author(s): Juan Arredondo, Marian Lara, Fiona Ng, Danielle A Gochez, Diana C Lee, Stephanie P Logia, Joanna Nguyen, Ricardo A Maselli

Journal: Hum. Genet.. 2014 May;133(5):599-616.

 

Collagen Q (ColQ) is a key multidomain functional protein of the neuromuscular junction (NMJ), crucial for anchoring acetylcholinesterase (AChE) to the basal lamina (BL) and accumulating AChE at the NMJ. The attachment of AChE to the BL is primarily accomplished by the binding of ...

Last Updated: 14 Apr 2014

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Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
 

Author(s): Teerin Liewluck, Duygu Selcen, Andrew G Engel

Journal: Muscle Nerve. 2011 Nov;44(5):789-94.

 

Congenital myasthenic syndromes (CMS) are disabling but treatable disorders. Anticholinesterase therapy is effective in most of them, but is contraindicated in endplate (EP) acetylcholinesterase (AChE) deficiency, the slow-channel syndrome, Dok-7 myasthenia, and β(2) -laminin deficiency, ...

Last Updated: 18 Oct 2011

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Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.
 

Author(s): Morgane Stum, Emmanuelle Girard, Marie Bangratz, Véronique Bernard, Marc Herbin, Alban Vignaud, Arnaud Ferry, Claire-Sophie Davoine, Andoni Echaniz-Laguna, Frédérique René, Christophe Marcel, Jordi Molgó, Bertrand Fontaine, Eric Krejci, Sophie Nicole

Journal: Hum. Mol. Genet.. 2008 Oct;17(20):3166-79.

 

Schwartz-Jampel syndrome (SJS) is a recessive neuromyotonia with chondrodysplasia. It results from hypomorphic mutations of the gene encoding perlecan, leading to a decrease in the levels of this heparan sulphate proteoglycan in basement membranes (BMs). It has been suggested that ...

Last Updated: 2 Oct 2008

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Reviews from the PubMed Database

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