Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Brain : a Journal of Neurology
Violeta MihaylovaH Lochmüller

Abstract

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COLQ) cause synaptic basal-lamina associated CMS with end-plate AChE deficiency. Here we present the clinical and molecular genetic findings of 22 COLQ-mutant CMS patients, carrying a total of 20 different COLQ mutations, 11 of them had not previously been reported. Typically, patients with esterase deficiency suffer from a severe, progressive weakness with onset at birth or in early infancy. In addition, patients with a late onset showing a mild course of disease are described. AChE inhibitor therapy, beneficial for other forms of CMS, is of no effect in cases of esterase deficiency. The large cohort of COLQ patients studied here enabled us to define additional clinical presentations associated with COLQ mutations that differ from the 'classical' phenotypes: several patients with disease onset at birth or in early infancy presented an unexpected, mild disease course without significant progression of weakness. Moreover, many patients had clinical features reminiscent of limb-girdle CMS with mutat...Continue Reading

References

Jun 1, 1993·Brain : a Journal of Neurology·D O HutchinsonA G Engel
Sep 5, 1997·The Journal of Biological Chemistry·E KrejciJ Massoulié
Aug 5, 1998·Proceedings of the National Academy of Sciences of the United States of America·K OhnoA G Engel
Feb 9, 2000·Annals of Neurology·K OhnoI Akiguchi
Jan 1, 2003·Muscle & Nerve·Andrew G EngelSteven M Sine
Mar 1, 2003·Neuromuscular Disorders : NMD·Keiko IshigakiDaniel Hantaï
May 3, 2003·Nature Reviews. Neuroscience·Andrew G EngelSteven M Sine
May 24, 2005·Current Opinion in Pharmacology·Andrew G Engel, Steven M Sine
Jul 13, 2005·Neurology·M Bestue-CardielA G Engel
Nov 18, 2005·Chemico-biological Interactions·M GuerraC Legay
Apr 20, 2006·Neuromuscular Disorders : NMD·J ColomerH Lochmüller
Aug 19, 2006·Science·David BeesonYuji Yamanashi
Feb 16, 2007·Neuromuscular Disorders : NMD·Felix SchreinerJoachim Woelfle
Apr 19, 2007·Brain : a Journal of Neurology·Juliane S MüllerHanns Lochmüller
Apr 25, 2007·Brain : a Journal of Neurology·Jacqueline PalaceDavid Beeson
Aug 10, 2007·Expert Reviews in Molecular Medicine·Juliane S MüllerHanns Lochmüller

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Citations

Oct 7, 2011·Journal of Neurology·Velina GuergueltchevaHanns Lochmüller
Oct 15, 2011·Current Neurology and Neuroscience Reports·Andrew G Engel
May 22, 2013·Neuromuscular Disorders : NMD·Anne-Kathrin PeyerDirk Fischer
Nov 21, 2008·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Ulrike Schara, Hanns Lochmüller
Mar 1, 2012·Molecular Therapy : the Journal of the American Society of Gene Therapy·Mikako ItoKinji Ohno
Dec 15, 2010·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Mustafa A SalihThomas M Bosley
May 7, 2013·Annual Review of Neuroscience·Jonathan F RussellLouis J Ptáček
Apr 26, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Haipeng ZhuChristopher M Gomez
Aug 28, 2014·Current Opinion in Neurology·Pedro M Rodríguez CruzDavid Beeson
Apr 13, 2010·Autoimmunity·Jan J G M VerschuurenNils Erik Gilhus
Jul 5, 2012·Pediatric Neurology·Sophelia H S ChanAndrew G Engel
Apr 12, 2012·Pediatric Neurology·Alev GuvenBanu Anlar
Feb 23, 2012·Pediatric Neurology·Paulo José LorenzoniLineu Cesar Werneck
Apr 19, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Nina BarišićHanns Lochmüller
Nov 28, 2009·Journal of Neuroimmunology·Carlo ProvenzanoEmanuela Bartoccioni
Aug 19, 2008·Journal of Neuroimmunology·Jackie Palace, David Beeson
Sep 17, 2015·Animal Genetics·Barbara GandolfiLeslie A Lyons
Jan 3, 2013·Annals of the New York Academy of Sciences·Ricardo A MaselliRobert L Wollmann
Jul 4, 2012·Journal of Neurochemistry·Vladimir FararEric Krejci
Feb 13, 2016·Journal of Neuromuscular Diseases·Teresinha EvangelistaHanns Lochmüller
Aug 25, 2015·Neurology·Pedro M Rodríguez CruzDavid Beeson
Oct 12, 2014·Journal of Neurology·Pedro M Rodríguez CruzDavid Beeson
Apr 12, 2016·Neurology. Genetics·Angela PyleRita Horvath
Jun 2, 2015·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·S de la VaissièreP Castelnau
Mar 21, 2015·Lancet Neurology·Andrew G EngelSteven M Sine
Sep 24, 2011·Neuromuscular Disorders : NMD·Jacqueline PalaceDavid Beeson
Jul 9, 2013·Neuromuscular Disorders : NMD·Andrea KleinStephanie A Robb
Aug 14, 2012·Neuromuscular Disorders : NMD·Ibrahim MahjnehAngela Abicht
Nov 18, 2011·Neuromuscular Disorders : NMD·I WargonT Stojkovic
Nov 23, 2011·Neuromuscular Disorders : NMD·Andrew G Engel
Jan 11, 2012·Neuromuscular Disorders : NMD·Amina ChaouchHanns Lochmüller
Oct 24, 2012·Chemico-biological Interactions·Jennifer KarmouchClaire Legay
Jan 6, 2015·Neuromuscular Disorders : NMD·Yiran GuoXun Xu
Mar 1, 2013·Journal of Neurology, Neurosurgery, and Psychiatry·Sarah FinlaysonDavid Beeson
Jan 13, 2015·Journal of the Neurological Sciences·Marta Zoltowska KatarzynaDavid Beeson
Jul 23, 2009·Arquivos de neuro-psiquiatria·Paulo José LorenzoniLineu César Werneck

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