Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency

Neurology

Volumn 50, Issue 1, 1998, Pages 54-61

  Sieb, J P ^a   Dorfler P ^a   Tzartos, S ^a   Wewer, U M ^a   Ruegg M A ^a   Meyer, D ^a   Baumann, I ^a   Lindemuth, R ^a   Jakschik, J ^a   Ries, F ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; UTROPHIN;

ADULT; ARTICLE; CASE REPORT; EATON LAMBERT SYNDROME; ENDPLATE POTENTIAL; ENZYME ACTIVITY; EVOKED MUSCLE RESPONSE; FEMALE; HUMAN; IMMUNOREACTIVITY; MALE; MUSCLE WEAKNESS; NERVE CELL PLASTICITY; NERVE STIMULATION; NEUROMUSCULAR SYNAPSE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0345367513     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.50.1.54     Document Type: Article

References (57)

1. Engel AG. Myasthenie syndromes. In: Engel AG, FranziniArmstrong C, eds. Myology: basic and clinical. 2nd ed. New York: McGraw-Hill, 1994:1798-1835.
2. Kaminski HJ, Ruff RL. The myasthénie syndromes. In: Schultz SG, ed. Molecular biology of membrane transport disorders. New York: Plenum, 1996:565-593.
3. Ohno K, Hutchinson DO, Milone M, et al. Congenital myasthénie syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the e subunit. Proc Natl Acad Sci USA 1995;92:758-762.
4. Sine SM, Ohno K, Bouzat G, et al. Mutation of the acetylcholine receptor a subunit causes a slow-channel myasthénie syndrome by enhancing agonist binding affinity. Neuron 1995; 15: 229-239.
5. Gomez CM, Gammack JT. A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. Neurology 1995;45:982-985.
6. Engel AG, Ohno K, Milone M, et al. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthénie syndrome. Hum Mol Genet 1996;5:1217-1227.
7. Ohno K, Wang H-L, Milone M, et al. Congenital myasthénie syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor e subunit. Neuron 1996:17:157-170.
8. Gomez CM, Maselli R, Gammack J, et al. A ß-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. Ann Neurol 1996;39:712-723.
9. Beeson D, Newland C, Croxen R, Newsom-Davis J. Mutations in the muscle acetylcholine receptor a subunit gene in slowchannel congenital myasthénie syndrome [abstract]. Ann Neurol 1996;40:487-488.
10. Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. End-plate acetylcholine receptor deficiency due to nonsense mutations in the e subunit. Ann Neurol 1996;40:810-817.
11. Ohno K, Quiram PA, Milone M, et al. Congenital myasthénie syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor e subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet 1997;6:753-766.
12. Mora M, Lambert EH, Engel AG. Synaptic vesicle abnormality in familial infantile myasthenia. Neurology 1987;37: 206-214.
13. Walls TJ, Engel AG, Nagel AS, Harper CM, Trastek VF. Congenital myasthénie syndrome associated with paucity of synaptic vesicles and reduced quantal release. Ann N Y Acad Sci 1993;681:461-468.
14. Hutchinson DO, Walls TJ, Nakano S, et al. Congenital end-plate acetylcholinesterase deficiency. Brain 1993;116:633653.
15. Camp S, Bon S, Li Y, et al. Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits. J Clin Invest 1995;95:333-340.
16. Deconinck AE, Potter AC, Tinsley JM, et al. Postsynaptic abnormalities at the neuromuscular junctions of utrophindeficient mice. J Cell Biol 1997;136:883-894.
17. Grady RM, Merlie JP, Sanes JR. Subtle neuromuscular defects in utrophin-deficient mice. J Cell Biol 1997;136:871-882.
18. Dubowitz V. Histological and histochemical stains and reactions. In: Muscle biopsy: a practical approach. 2nd ed. London: Balliere Tindall, 1985:19-40.
19. Alderson K, Pestronk A, Yee W-C, Drachman DB. Silver cholinesterase immunocytochemistry: a new neuromuscular junction stain. Muscle Nerve 1989;12:9-14.
20. Tzartos SJ, Rand DE, Einarson BE, Lindstrom JM. Mapping of surface structures of electrophorus acetylcholine receptor using monoclonal antibodies. J Biol Chem 1981;256:86358645.
21. Tzartos S, Langeberg L, Hochschwender S, Lindstrom J. Demonstration of a main immunogenic region of acetylcholine receptors from human muscle using monoclonal antibodies to human receptor. FEES Lett 1983;158:116-118.
22. Sargent PB, Hedges BE, Tsavaler L, Clemmons S, Tzartos S, Lindstrom J. Structure and transmembrane nature of the acetylcholine receptor in amphibian skeletal muscle as revealed by crossreacting monoclonal antibodies. J Cell Biol 1984;98: 609-618.
23. Saedi MS, Arnand R, Conroy WG, Lindstrom J. Determination of amino acids critical to the main immunogenic region of intact acetylcholine receptors by in vitro mutagenesis. FEBS Lett 1990;267:55-59.
24. Tzartos S, Langeberg L, Hochschwender S, Swanson LW, Lindstrom J. Characteristics of monoclonal antibodies to denaturated Torpedo and to native calf acetylcholine receptors: species, subunit and region specificity. J Neuroimmunol 1986; 10:235-253.
25. Lanier LL, Testi R, Bindl J, Phillips JH. Identity of Leu-19 (CD56) leukocyte differentiation antigen and neural cell adhesion molecule. J Exp Med 1989;169:2233-2238.
26. Nawrotzki R, Starzinski-Powitz A, Weber F, Schröder R. Cross-reactivity of monoclonal antibody Leu-19 with some neuroectodermal and other non-immune tissues. Acta Neuropathol 1990;79:520-527.
27. Wewer UM, Thornell L-E, Loechel F, et al. An extrasynaptic localization of laminin ß2 chain in developing an adult human skeletal muscle. Am J Pathol 1997;151:621-631.
28. Engvall E, Earwicker D, Haaparanta T, Ruoslahti E, Sanes JR. Distribution and isolation of four laminin variants: tissue restricted distribution of heterotrimers assembled from five different subunits. Cell Regul 1990;1:731-740.
29. Gesemann M, Denzer AJ, Ruegg MA. Acetylcholine receptoraggregating activity of agrin isoforms and mapping of the active site. J Cell Biol 1995; 128:625-636.
30. Engel AG. Locating motor end plates for electron microscopy. Mayo Clin Proc 1970;45:450-454.
31. Cruz-Orive L-M, Weibel ER. Sampling designs for stereology. J Microsc 1981;122:235-257.
32. Engel AG, Santa T. Histometric analysis of the ultrastructure of the neuromuscular junction in myasthenia gravis and in the myasthénie syndrome. Ann NY Acad Sci 1971;183:46-63.
33. Elmqvist D, Quastel DMJ. A quantitative study of end-plate potentials in isolated human muscle. J Physiol (Lond) 1965; 178:505-529.
34. Sieb JP, Milone M, Engel AG. Effects of the quinoline derivatives quinine, quinidine, and chloroquine on neuromuscular transmission. Brain Res 1996;712:179-189.
35. Cull-Candy S, Miledi R, Trautmann A. End-plate currents and acetylcholine noise in normal and myasthénie human end-plates. J Physiol (Lond) 1979;287:247-265.
36. DelCastillo J, Katz B. Quantal components of the end-plate potential. J Physiol (Lond) 1954;124:560-573.
37. Wokke JHJ, Jennekens FGI, Molenaar PC, VanDenOord CJM, Oen BS, Busch HFM. Congenital paucity of secondary synaptic clefts (CPSC) syndrome in 2 adult sibs. Neurology 1989;39:648-654.
38. Smit LME, Hageman G, Veldman H, Molenaar PC, Oen BS, Jennekens FGI. A myasthénie syndrome with congenital paucity of secondary synaptic clefts: CPSC syndrome. Muscle Nerve 1988;ll:337-348.
39. Patterson PH. Neuron-target interactions. In: Hall ZW, ed. An introduction to molecular neurobiology. Sunderland, MA: Sinauer, 1992:428-459.
40. Fidzianska A. Human ontogenesis. II. Development of the human neuromuscular junction. J Neuropathol Exp Neurol 1980;39:606-615.
41. Denzer AJ, Gesemann M, Ruegg MA. Diverse functions of extracellular matrix molecule agrin. Sem Neurosci 1996;8: 357-366.
42. Ruegg MA. Agrin, laminin ß2 (s-laminin) and ARIA: their role in neuromuscular development. Curr Opin Neurobiol 1996;6: 97-103.
43. Noakes PG, Gautam M, Mudd J, Sanes JR, Merlie JP. Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin ß2. Nature 1995;374:258-262.
44. Gautam M, Noakes PG, Mudd J, et al. Failure of postsynpatic specialization to develop at neuromuscular junctions of rapsyn-deficient mice. Nature 1995;377:232-236.
45. Tinsley LM, Blake DJ, Roche A, et al. Primary structure of dystrophin-related protein. Nature 1992;360:591-593.
46. Campanelli JT, Roberds SL, Campbell KP, Scheller RH. A role for dystrophin-associated glycoproteins and utrophin in agrininduced AChR clustering. Cell 1994;77:663-674.
47. Bewick GS, Young C, Slater CR. Spatial relationships of utrophin, dystrophin, ß-dystroglycan and ß-spectrin to acetylcholine receptor clusters during postnatal maturation of the rat neuromuscular junction. J Neurocytol 1996;25:367-379.
48. Apel ED, Merlie JP. Assembly of the postsynaptic apparatus. Curr Opin Neurobiol 1995;5:62-67.
49. Vincent A, Newland C, Croxen R, Beeson D. Genes at the junction: candidates for congenital myasthénie syndromes. Trends Neurosci 1997;20:15-22.
50. Ito H, Yoshimura T, Satoh A, Takino H, Tsujihata M, Nagataki S. Immunohistochemical study of utrophin and dystrophin at the motor end-plate in myasthenia gravis. Acta Neuropathol 1996;92:14-18.
51. Flucher BE, Daniels MP. Distribution of Na+ channels and ankyrin in neuromuscular junctions is complementary to that of acetylcholine receptors and the 43 kd protein. Neuron 1989; 3:163-175.
52. Boudier J-L, LeTreut T, Jover E. Autoradiographic localization of voltage-sensitive channels on the mouse neuromuscular junction using 125I-a scorpion toxin. II. Sodium channel distribution on postsynaptic membranes. J Neurosci 1992;12: 454-466.
53. Vautrin J, Mambrini J. Synaptic current between neuromuscular junction folds. J Theor Biol 1989;140:479-498.
54. Martin AR. Amplification of neuromuscular transmission by postjunctional folds. Proc R Soc Lond B 1994;258:321-326.
55. Naka T. Simulation analysis of. the effects of the junctional folds on spontaneous generation of the miniature endplate current at neuromuscular junction. In: Troch I, Breitenecker F, eds. Proceedings of the IMACS Symposium on Mathematical Modelling, ARGESIM Report No. 11, Vienna, Austria: 1997;943-948.
56. Wood SJ, Slater CR. The contribution of postsynaptic folds to the safety factor for neuromuscular transmission in rat fastand slow-twitch muscles. J Physiol (Lond) 1997;500:165-176.
57. Ito Y, Miledi R, Vincent A, Newsom-Davis J. Acetylcholine receptors and end-plate electrophysiology in myasthenia gravis. Brain 1978;101:345-368.