Congenital myasthenic syndromes

Neurologist

Volumn 6, Issue 3, 2000, Pages 186-196

  Vedanarayanan, V Venkataraman ^a  

^a UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

Author keywords

Acetylcholinesterase deficiency; Defect in acetylcholine resynthesis or packaging; Myasthenic syndromes; Slow channel syndrome

Indexed keywords

ACETYLCHOLINE; CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; EDROPHONIUM; GUANIDINE; PREDNISONE; PYRIDOSTIGMINE; QUINIDINE;

ARTICLE; CHOLINERGIC SYSTEM; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; EXTRAOCULAR MUSCLE; FACE MUSCLE; FATIGUE; HUMAN; HUMAN TISSUE; MUSCLE WEAKNESS; MYASTHENIA GRAVIS; NERVE STIMULATION; NEUROMUSCULAR SYNAPSE; PRIORITY JOURNAL;

EID: 0034033452     PISSN: 10747931     EISSN: None     Source Type: Journal    
DOI: 10.1097/00127893-200006030-00005     Document Type: Article

References (75)

1. Engel A. Myasthenic syndromes. In: Engel AG, Franzini-Armstrong C, editors. Myology: Basic and clinical. 2nd ed. New York: McGraw-Hill, 1994:1798-835.
2. Engel AG, Ohno K, Wang HL, Milone M, Sine SM. Molecular basis of congenital myasthenic syndromes: Mutations in the acetylcholine receptor. Neuroscientist 1998;4:185-94.
3. Papazian O. Transient neonatal myasthenia gravis. J Child Neurol 1992;7:135-41.
4. Namba T, Brown SB, Grob D. Neonatal myasthenia gravis: Report of 2 cases and review of the literature. Pediatrics 1970;45:488-92.
5. Rothbart HB. Myasthenia gravis. Familial occurrence. JAMA 1937; 108:715-7.
6. Bundey S. A genetic study of infantile and juvenile myasthenia gravis. J Neurol Neurosurg Psychiatry 1972;35:41-51.
7. Lobos EA. Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17. Genomics 1993;17:642-50.
8. Noda M, Furutani Y, Takahashi H, Toyosato M, Tanabe T, Shimizu S, et al. Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor. Nature 1983;305:818-23.
9. Beeson D, Vincent A, Morris A, Brydson M, Jacobson L, Baggi F. cDNA and genomic clones encoding the human muscle acetylcholine receptor. Ann N Y Acad Sci 1993;681:165-7.
10. Beeson D, Brydson M, Betty M, Jeremiah S, Povey S, Vincent A, et al. Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. Eur J Biochem 1993;215:229-38.
11. Milone M, Hutchinson DO, Engel AG. Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate. Muscle Nerve 1994;17:1364-9.
12. Katz B. Nerve muscle and synapse. New York: McGraw Hill, 1966.
13. Engel AG. The Neuromuscular junction. In: Engel AG, Franzini-Armstrong C, editors. Myology: Basic and clinical. 2nd ed. New York: McGraw-Hill, 1994:261-302.
14. Katz B, Miledi R. The binding of acetylcholine to receptors and its removal from the cleft. J Physiol (Lond) 1973;231:549-74.
15. Hall ZW, Lubit BW, Schwartz JH. Cytoplasmic actin in postsynaptic structures at the neuromuscular junction. J Cell Biol 1981;90:789-92.
16. Magleby KL. Neuromuscular transmission. In: Engel AG, Franzini-Armstrong C, editors. Myology: Basic and clinical. 2nd ed. New York: McGraw-Hill, 1994:442-63.
17. McMahan UJ, Sanes JR, Marshall LM. Cholinesterase is associated with the basal lamina at the neuromuscular junction. Nature 1978; 271:172-4.
18. Elmqvist D, Quastel DMJ. Presynaptic action of hemicholinium at the neuromuscular junction. J Physiol (Lond) 1965;177:463.
19. Hubbard JI, Jones SF, Landau EM. On the mechanism by which calcium and magnesium affect the release of transmitter by nerve impulses. J Physiol (Lond) 1968;196:75-86.
20. Smith SJ, Augustine GJ. Calcium ions, active zones and synaptic transmitter release. Trends Neurosci 1988;11:458-64.
21. Llinas RR. Depolarization release coupling: An overview. Ann N Y Acad Sci 1991;635:3-17.
22. Stanley EF, Cox C. Calcium channels in the presynaptic nerve terminal of the chick ciliary ganglion giant synapse. Ann N Y Acad Sci 1991;635:70-9.
23. Kuffler SW, Yoshikami D. The number of transmitter molecules in a quantum: An estimate from iontophoretic application of acetylcholine at the neuromuscular synapse. J Physiol (Lond) 1975;251:465-82.
24. Gage PW. Generation of end-plate potentials. Physiol Rev 1976;56: 177-247.
25. Miledi R, Molenaar PC, Polak RL. Electrophysiological and chemical determination of acetylcholine release at the frog neuromuscular junction. J Physiol (Lond) 1983;334:245-54.
26. Engel AG, Lambert EH. Congenital myasthenic syndromes. Electroencephalogr Clin Neurophysiol 1987;39(Suppl):91-102.
27. Engel AG. Congenital myasthenic syndromes. In: Lisak RP, ed. Handbook of myasthenia gravis and myasthenic syndromes. New York: Marcel Dekker, 1994:33-62.
28. Conomy JP, Levisohn M, Fanaroff A. Familial infantile myasthenia gravis: A cause of sudden death in young children. J Pediatr 1975;87: 428-30.
29. Gieron MA, Korthals JK. Familial infantile myasthenia gravis: Report of three cases with follow-up into adult life. Arch Neurol 1985;42: 143-4.
30. Mora M, Lambert EH, Engel AG. Synaptic vesicle abnormality in familial infantile myasthenia. Neurology 1987;37:206-14.
31. Engel AG, Lambert EH, Gomez MR. A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann Neurol 1977;1:315-30.
32. McQuillen MP. Familial limb-girdle myasthenia. Brain 1966;89:121-32.
33. Engel AG, Lambert EH, Mulder DM, Torres CF, Sahashi K, Bertoroni TE, et al. A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann Neurol 1982;11:553-69.
34. Kimura J. Techniques of repetitive stimulation. In: Electrodiagnosis in diseases of nerve and muscle: Principles and practice. 2nd ed. Philadelphia: FA Davis Company, 1989;194-8.
35. Stalberg E, Tronelj J. Single fiber electromyography. Old Woking, Surrey, UK: The Miraville Press, 1979.
36. Engel AG. The investigation of congenital myasthenic syndromes. Ann N Y Acad Sci 1993;681:425-34.
37. Andrews PI, Massey JM, Sanders DB. Acetylcholine receptor antibodies in juvenile myasthenia gravis. Neurology 1993;43:977-82.
38. Drachman DB. Myasthenia gravis. N Engl J Med 1994;330:1797-807.
39. Lindstrom JM, Seybold ME, Lennon VA, Whittingham S, Duane DD. Antibody to acetylcholine receptor in myasthenia gravis. Neurology 1976;26:1054-9.
40. Miller RG, Milner-Brown HS, Dau PC. Antibody-negative acquired myasthenia gravis: Successful therapy with plasma exchange. Muscle Nerve 1981;4:255.
41. Engel AG, Santa T. Histometric analysis of the ultrastructure of the neuromuscular junction in myasthenia gravis and in the myasthenic syndrome. Ann N Y Acad Sci 1971;183:46-63.
42. Fertuck HC, Salpeter MM. Quantitation of junctional and extrajunctional acetylcholine receptors by electron microscope autoradiography after bungarotoxin binding at mouse neuromuscular junctions. J Cell Biol 1976;69:144-58.
43. Robertson WC, Chun RWM, Kornguth SE. Familial infantile myasthenia. Arch Neurol 1980;37:117-9.
44. Jones SF, Kwanbunbumpen S. Some effects of nerve stimulation and hemicholinium on quantal transmitter release at the mammalian neuromuscular junction. J Physiol (Lond) 1970;207:51-61.
45. Hart Z, Sahashi K, Lambert EH, Engel AG, Lindstrom J. A congenital, familial, myasthenic syndrome caused by a presynaptic defect of transmitter resynthesis of mobilization [abstract]. Neurology 1979;29:559.
46. Engel AG, Walls TJ, Nagel A, Uchitel O. Newly recognized congenital myasthenic syndromes: I. Congenital paucity of synaptic vesicles and reduced quantal release. II. High-conductance fast-channel syndrome. III. Abnormal acetylcholine receptor (AChR) interaction with acetylcholine. IV. AChR deficiency and short channel-open time. Prog Brain Res 1990;84:125-37.
47. Walls TJ, Engel AG, Nagel AS, Harper CM, Trastek VF. Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release. Ann N Y Acad Sci 1993;681:461-8.
48. Whittaker VB. The structure and function of cholinergic synaptic vesicles. The Third Thudichum Lecture. Biochem Soc Trans 1984: 12:561-76.
49. Sudhof TC, Jahn R. Proteins of synaptic vesicles involved in exocytosis and membrane recycling. Neuron 1991;6:665-77.
50. Hutchinson DO, Walls TJ, Nakano S, Camp S, Taylor P, Harper CM, et al. Congenital endplate acetylcholinesterase deficiency. Brain 1993;116:633-53.
51. Jennekens FG, Hesselmans LF, Veldman H, Jansen EN, Spaans F, Molenaar PC. Deficiency of acetylcholine receptors in a case of end-plate acetylcholinesterase deficiency: A histochemical investigation. Muscle Nerve 1992;15:63-72.
52. Getman DK, Eubanks JH, Camp S, Evans GA, Taylor P. The human gene encoding acetylcholinesterase is located on the long arm of chromosome 7. Am J Hum Genet 1992;51:170-7.
53. Ohno K, Brengman J, Tsujino A, Engel AG. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Proc Natl Acad Sci 1998;95:9654-9.
54. Oosterhuis HJ, Newsom-Davis J, Wokke JH, Molenaar PC, Weerden TV, Oen BS, et al. The slow channel syndrome: Two new cases. Brain 1987;110:1061-79.
55. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: Experiments of nature. J Physiol Paris 1998;92:113-7.
56. Engel AG, Ohno K, Milone M, Sine SM. Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies. Ann N Y Acad Sci 1998;841:140-56.
57. Hutchinson DO, Nakano S, Sieb JP, Engel AG. Patch-clamp analysis of the slow channel myasthenic syndrome. Neurology 1993; 43(Suppl):A180.
58. Jackson MJ, Jones DA, Edwards RH. Experimental skeletal muscle damage: The role of calcium activated degenerative processes. Eur J Clin Invest 1984;14:369-74.
59. Leonard JP, Salpeter MM. Calcium-mediated myopathy at neuromuscular junctions of normal and dystrophic muscle. Exp Neurol 1982;76:121-38.
60. Milone M, Ohno K, Wang H-L, Fukudome T, Pruitt JN. Novel slow-channel syndrome due to mutation in the acetylcholine receptor alpha subunit with increased conductance, nanomolar affinity for acetylcholine, and prolonged open durations of the AChR channel. Ann Neurol 1996;40:956.
61. 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;45:982-5.
62. Gomez CM, Maseilli R, Gammack J, Lasadale J, Tamamizu S, Comblath DR et al. A beta-subunit mutation in the acetylcholine receptor gate causes severe slow-channel syndrome. Ann Neurol 1996;39:712-23.
63. Uchitel O, Engel AG, Walls TJ, Nagel A, Atassi MZ, Bril V. Congenital myasthenic syndromes. II. A syndrome attributed to abnormal interaction of acetylcholine with its receptor. Muscle Nerve 1993;16: 1293-301.
64. Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, et al. Mutation of the acetylcholine receptor subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron 1995;15:229-39.
65. Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, et al. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet 1996;5:1217-27.
66. Harper CM, Engel AG. Quinidine sulfate in the treatment of the slow channel congenital myasthenic syndrome. Ann Neurol 1998;4:185-94.
67. Ohno K, Brengman JM, Hutchinson DO, Griggs RC, Engel AG. A congenital myasthenic syndrome with two distinct nonsense mutations in the epsilon subunit of the acetylcholine receptor. Muscle Nerve 1994;17(Suppl 1):S226.
68. Engel AG, Hutchinson DO, Nakano S, Murphy L, Griggs RC, Guy R, et al. Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor. Ann N Y Acad Sci 1993;681:496-508.
69. Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Brengman JM, et al. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor subunit. Neuron 1996;17:157-70.
70. Ohno K, Engel AG, Milone M, Brengman JM, Sieb J. A Congenital myasthenic syndrome with severe acetylcholine receptor deficiency caused by heteroallelic frameshifting mutations in the epsilon subunit [abstract]. Neurology 1995;45(Suppl 4):A283.
71. Milone M, Ohno K, Pruitt JN, Brengman JM, Sine SM, Engel AG. Congenital myasthenic syndrome due to frameshifting acetylcholine receptor epsilon subunit mutation [abstract]. Soc Neurosci Abstr 1996;22:1942.
72. Bady B, Chauplannaz G, Carrier H. Congenital Lambert-Eaton myasthenic syndrome. J Neurol Neurosurg Psychiatry 1987;50:476-8.
73. Smith LME, Hageman G, Veldman H, Molenaar PC, Oen BS, Jenneken FGI. A myasthenic syndrome with congenital paucity of secondary synaptic clefts: CPSC syndrome. Muscle Nerve 1988;11: 337-48.
74. Wokke JH, Jennekens FG, Molenaar PC, Van den Oord CJ, Oen BS. Congenital paucity of secondary synaptic clefts (CPSC) syndrome in 2 adult sibs. Neurology 1989;39:648-54.
75. Goldhammer Y, Blatt I, Sadeh M, Goodman RM. Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. Brain 1990;113:1291-306.