Title: Autoimmune and genetic disorders at the neuromuscular junction <i>The 1997 Ronnie Mac Keith Lecture</i>
Abstract: Developmental Medicine & Child NeurologyVolume 40, Issue 3 p. 199-206 Free Access Autoimmune and genetic disorders at the neuromuscular junction The 1997 Ronnie Mac Keith Lecture John Newsom-Davis MD FRCP FRS, John Newsom-Davis MD FRCP FRS Neurosciences Group, Institute of Molecular Medicine, University of Oxford, John Raddiffe Hospital, Oxford OX3 9DS, UKSearch for more papers by this author John Newsom-Davis MD FRCP FRS, John Newsom-Davis MD FRCP FRS Neurosciences Group, Institute of Molecular Medicine, University of Oxford, John Raddiffe Hospital, Oxford OX3 9DS, UKSearch for more papers by this author First published: 12 November 2008 https://doi.org/10.1111/j.1469-8749.1998.tb15448.xCitations: 8AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat References 1 Newsom-Davis J. (1997) Autoantibody-mediated channelopathies at the neuromuscular junction. Neuroscientist 3: 337– 46. 2 Simpson JA. (1960) Myasthenia gravis: a new hypothesis. Scottish Medical Journal 5: 419– 39. 3 Newsom-Davis J, Vincent A, Willcox N. (1993) Autoimmune disorders of the neuromuscular junction. In: PJ Lachmann, DK Peters, FS Rosen, MJ Walport, editors. Clinical Aspects of Immunology Oxford: Blackwell Scientific Publications. p 2091– 111. 4 Scadding GK, Vincent A, Newsom-Davis J, Henry K. (1981) Acetylcholine receptor antibody synthesis by thymic lymphocytes: correlation with thymic histology. Neurology 31: 935– 43. 5 Rodriguez M, Gomez MR, Howard FM, Taylor WF. (1983) Myasthenia gravis in children: long term follow-up. Annals of Neurology 13: 504– 10. 6 Palace J, Newsom-Davis J, Lecky B. Myasthenia Gravis Study Group. 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Journal of Clinical Investigation 98: 2358– 63. 11 Mier AK, Havard CWH. (1985) Diaphragmatic myasthenia in mother and child. Postgraduate Medical Journal 61: 725– 7. 12 Mossman S, Vincent A, Newsom-Davis J. (1986) Myasthenia gravis without acetylcholine receptor antibody: a distinct disease entity. Lancet i: 116– 9. 13 Barrert-Jolley R, Byrne N, Vincent A, Newsom-Davis J. (1994) Plasma from patients with seronegative myasthenia gravis inhibit nAChR responses in TE671/RD muscle cell line. Pflugers Archive 428: 492– 8. 14 Chelmicka-Schorr E, Bernstein LP, Zurbrugg EB, Hurtenlocher PR. (1979) Eaton-Lambert syndrome in a 9-year-old girl. Archives of Neurology 36: 572– 4. 15 O'Neill JH, Murray NM, Newsom-Davis J. (1988) The Lambert-Eaton myasthenic syndrome. A review of 50 cases. Brain 111: 577– 96. 16 Lang B, Newsom-Davis J. (1995) Immunopathology of the Lambert-Eaton myasthenic syndrome. 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Neurology 34: 480– 5. 22 Bain PG, Motomura M, Newsom-Davis J, Misbah SA, Chapel HM, Lee ML, Vincent A, Lang B. (1996) Effects of intravenous immunoglobulin on muscle weakness and calcium-channel autoantibodies in the Lambert-Eaton myasthenic syndrome. Neurology 47: 678– 83. 23 Sinha S, Newsom-Davis J, Mills K, Byrne N, Lang B, Vincent A. (1991) Autoimmune aetiology for acquired neuromyotonia (Isaacs syndrome). Lancet 338: 75– 7. 24 Newsom-Davis J, Mills KR. (1993) Immunological associations of acquired neuromyotonia (Isaacs syndrome): report of 5 cases and literature review. Brain 116: 453– 69. 25 Isaacs H. (1961) A syndrome of continuous muscle-fibre activity. Journal of Neurology Neurosurgery and Psychiatry 24: 319– 25. 26 Shillito P, Molenaar PC, Vincent A, Leys K, Zheng W, van den Berg RJ, Plomp JJ, Van Kempen GThH, Wintzen AR, van Dijk G, Newsom-Davis J. (1995) Acquired neuromyotonia: evidence for autoantibodies directed against K+ channels of peripheral nerves. Annals of Neurology 38: 714– 22. 27 Hart IK, Waters C, Vincent A, Newland C, Beeson D, Pongs O, Morris C, Newsom-Davis J. (1996) Autoantibodies detected to expressed K+ channels are implicated in neuromyotonia. Annals of Neurology 41: 238– 46. 28 Shillito P, Vincent A, Newsom-Davis J. (1993) Congenital myasthenic syndromes. Neuromuscular Disorders 3: 183– 90. 29 Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. (1996) End-plate acetylcholine receptor deficiency due to nonsense mutations in the e-subunit. Annals of Neurology 40: 810– 7. 30 Croxen R, Beeson D, Vincent A, Newsom-Davis J. (1996) Congenital myasthenic syndrome with a single nucleotide deletion at the intron/exon boundary in exon 12 of the gene encoding the acetylcholine receptor e-subunit. Annals of Neurology 40: 513. 31 Palace J, Wiles CM, Newsom-Davis J. (1991) 3,4-diaminopyridine in the treatment of congenital (hereditary) myasthenia. Journal of Neurology Neurosurgery and Psychiatry 54: 1069– 72. 32 Engel AG, Lambert EH, Mulder DM, Torres CF, Sahashi K, Bertorini TE, Whitaker JN. (1982) A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Annals of Neurology 11: 553– 69. 33 Oosterhuis HJ, Newsom-Davis J, Wokke JH, Molenaar PC, Weerden TV, Oen BS, Jennekens FG, Veldman H, Vincent A, Wray DW. (1987) The slow-channel syndrome. Two new cases. Brain 110; 1061– 79. 34 Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG. (1995) Mutation of the acetylcholine receptor α-subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 15: 229– 39. 35 Gomez CM, Maselli R, Gammack J, Lasalde J, Tamamizu S, Cornblath DR, Lehar M, McNamee M, Kuncl RW. (1996) A β-subunit mutation in the acetylcholine recpetor channel gate causes severe slow-channel syndrome. Annals of Neurology 39: 712– 23. 36 Engel AG, Ohno K, Milone M, Wang H-L, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM. (1996) New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Human Molecular Genetics 5: 1217– 27. 37 Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J. (1997) Mutations in different functional domains of the human muscle acetylcholine receptor α-subunit in patients with the slow-channel congenital myasthenic syndrome. Human Molecular Genetics 6: 767– 74. 38 Engel AG, Llambert EH, Gomez MR. (1977) A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Annals of Neurology 1: 315– 30. 39 Camp S, Bon S, Li Y, Getman DK, Engel AG, Massoulie J, Taylor P. (1995) Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic-subunit. Journal of Clinical Investigation 95: 333– 40. 40 Engel AG, Uchitel OD, Walls TJ, Nagel A, Harper CM, Bodensteiner J. (1993) Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel. Annals of Neurology 34: 38– 47. 41 Mora M, Lambert EH, Engel AG. (1987) Synaptic vesicle abnormality in familial infantile myasthenia. Neurology 37: 206– 14. Citing Literature Volume40, Issue3March 1998Pages 199-206 ReferencesRelatedInformation
Publication Year: 1998
Publication Date: 1998-03-01
Language: en
Type: review
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 9
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