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Acetylcholinesterase deficiency

MedGen UID:
706161
•Concept ID:
C1283397
•
Disease or Syndrome
Synonyms: Deficiency of acetylcholinesterase; Deficiency of choline esterase I; Deficiency of true cholinesterase
SNOMED CT: Deficiency of true cholinesterase (360586005); Deficiency of acetylcholinesterase (360586005); Deficiency of choline esterase I (360586005)

Professional guidelines

PubMed

Application of Chitosan, Chitooligosaccharide, and Their Derivatives in the Treatment of Alzheimer's Disease.
Ouyang QQ, Zhao S, Li SD, Song C
Mar Drugs 2017 Nov 7;15(11) doi: 10.3390/md15110322. PMID: 29112116Free PMC Article
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article
Cognition enhancers for the treatment of dementia.
Malek N, Greene J
Scott Med J 2015 Feb;60(1):44-9. Epub 2014 Nov 27 doi: 10.1177/0036933014561948. PMID: 25431454

Recent clinical studies

Etiology

True grit and genetics: Predicting academic achievement from personality.
Rimfeld K, Kovas Y, Dale PS, Plomin R
J Pers Soc Psychol 2016 Nov;111(5):780-789. Epub 2016 Feb 11 doi: 10.1037/pspp0000089. PMID: 26867111Free PMC Article
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
Liewluck T, Selcen D, Engel AG
Muscle Nerve 2011 Nov;44(5):789-94. Epub 2011 Sep 23 doi: 10.1002/mus.22176. PMID: 21952943Free PMC Article
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B
Curr Opin Neurol 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. PMID: 15367858
Congenital myasthenic syndromes.
Sieb JP, Kraner S, Steinlein OK
Semin Pediatr Neurol 2002 Jun;9(2):108-19. doi: 10.1053/spen.2002.33803. PMID: 12138995
Congenital myasthenic syndromes.
Shillito P, Vincent A, Newsom-Davis J
Neuromuscul Disord 1993 May;3(3):183-90. doi: 10.1016/0960-8966(93)90057-q. PMID: 8400858

Diagnosis

Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B
Curr Opin Neurol 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. PMID: 15367858
Congenital myasthenic syndromes.
Harper CM
Semin Neurol 2004 Mar;24(1):111-23. doi: 10.1055/s-2004-829592. PMID: 15229798
Congenital myasthenic syndromes.
Sieb JP, Kraner S, Steinlein OK
Semin Pediatr Neurol 2002 Jun;9(2):108-19. doi: 10.1053/spen.2002.33803. PMID: 12138995
The origin of the molecular diversity and functional anchoring of cholinesterases.
Massoulié J
Neurosignals 2002 May-Jun;11(3):130-43. doi: 10.1159/000065054. PMID: 12138250
Myasthenia gravis and myasthenic syndromes.
Engel AG
Ann Neurol 1984 Nov;16(5):519-34. doi: 10.1002/ana.410160502. PMID: 6095730

Therapy

Protein-anchoring therapy to target extracellular matrix proteins to their physiological destinations.
Ito M, Ohno K
Matrix Biol 2018 Aug;68-69:628-636. Epub 2018 Feb 20 doi: 10.1016/j.matbio.2018.02.014. PMID: 29475025
Congenital myasthenic syndromes with acetylcholinesterase deficiency, the pathophysiological mechanisms.
Legay C
Ann N Y Acad Sci 2018 Feb;1413(1):104-110. doi: 10.1111/nyas.13595. PMID: 29405353
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
Liewluck T, Selcen D, Engel AG
Muscle Nerve 2011 Nov;44(5):789-94. Epub 2011 Sep 23 doi: 10.1002/mus.22176. PMID: 21952943Free PMC Article
The origin of the molecular diversity and functional anchoring of cholinesterases.
Massoulié J
Neurosignals 2002 May-Jun;11(3):130-43. doi: 10.1159/000065054. PMID: 12138250
Biochemistry of Alzheimer's dementia.
Marchbanks RM
J Neurochem 1982 Jul;39(1):9-15. doi: 10.1111/j.1471-4159.1982.tb04695.x. PMID: 6806445

Prognosis

True grit and genetics: Predicting academic achievement from personality.
Rimfeld K, Kovas Y, Dale PS, Plomin R
J Pers Soc Psychol 2016 Nov;111(5):780-789. Epub 2016 Feb 11 doi: 10.1037/pspp0000089. PMID: 26867111Free PMC Article
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H
Brain 2008 Mar;131(Pt 3):747-59. Epub 2008 Jan 7 doi: 10.1093/brain/awm325. PMID: 18180250
Congenital myasthenic syndromes.
Hantaï D, Richard P, Koenig J, Eymard B
Curr Opin Neurol 2004 Oct;17(5):539-51. doi: 10.1097/00019052-200410000-00004. PMID: 15367858
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.
Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM, Brengman J, Edwardson S, Matoth I, Engel AG
Neurology 2002 Feb 26;58(4):603-9. doi: 10.1212/wnl.58.4.603. PMID: 11865139
Myasthenia gravis and myasthenic syndromes.
Engel AG
Ann Neurol 1984 Nov;16(5):519-34. doi: 10.1002/ana.410160502. PMID: 6095730

Clinical prediction guides

Congenital myasthenic syndromes with acetylcholinesterase deficiency, the pathophysiological mechanisms.
Legay C
Ann N Y Acad Sci 2018 Feb;1413(1):104-110. doi: 10.1111/nyas.13595. PMID: 29405353
Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
Liewluck T, Selcen D, Engel AG
Muscle Nerve 2011 Nov;44(5):789-94. Epub 2011 Sep 23 doi: 10.1002/mus.22176. PMID: 21952943Free PMC Article
Further observations in congenital myasthenic syndromes.
Engel AG, Shen XM, Selcen D, Sine SM
Ann N Y Acad Sci 2008;1132:104-13. doi: 10.1196/annals.1405.039. PMID: 18567859Free PMC Article
Current understanding of congenital myasthenic syndromes.
Engel AG, Sine SM
Curr Opin Pharmacol 2005 Jun;5(3):308-21. doi: 10.1016/j.coph.2004.12.007. PMID: 15907919
Myasthenia gravis and myasthenic syndromes.
Engel AG
Ann Neurol 1984 Nov;16(5):519-34. doi: 10.1002/ana.410160502. PMID: 6095730

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