Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3

Neurology

Volumn 79, Issue 20, 2012, Pages 2050-2055

  Wadman, Renske I ^a   Vrancken, Alexander F J E ^a   Van Den Berg, Leonard H ^a   Van Der Pol, W Ludo ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PYRIDOSTIGMINE; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ABDUCTOR DIGITI MINIMI MUSCLE; ACCESSORY NERVE; ADULT; ARTICLE; CASE CONTROL STUDY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE DURATION; FACIAL NERVE; FEMALE; GENE DELETION; HUMAN; MALE; MUSCLE; NERVE STIMULATION; NEUROMUSCULAR JUNCTION DISORDER; NOSE MUSCLE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SPINAL MUSCULAR ATROPHY; TRAPEZIUS MUSCLE; ULNAR NERVE;

EID: 84871257650     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182749eca     Document Type: Article

References (39)

1. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
2. Munsat TL, Davies KE. International SMA consortium meeting (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 1992;2:423-428.
3. Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy: clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995;52:518-523.
4. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008;371:2120-2133.
5. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22:1027-1049.
6. Swoboda KJ, Scott CB, Crawford TO, et al. SMA CARNIVAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS One 2010;5:e12140.
7. Katirji B, Kaminski HJ, Preston DC, Ruff RL. Neuromuscular Disorders in Clinical Practice. Boston: Butterworth-Heinemann; 2002.
8. Bowerman M, Murray LM, Beauvais A, Pinheiro B, Kothary R. A critical SMN threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology. Neuromuscul Disord 2012;22:262-276.
9. Murray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH. Selective vulnerability of motor neurons and dissociation of pre-and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet 2008; 17:949962.
10. Kariya S, Park GH, Maeno-Hikichi Y, et al. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 2008;17:2552-2569.
11. Kong L,Wang X, Choe DW, et al. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci 2009;29:842-851.
12. Arnold AS, Gueye M, Guettier-Sigrist S, et al. Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients. Lab Invest 2004;84:1271-1278.
13. Braun S, Croizat B, Lagrange MC, Warter JM, Poindron P. Constitutive muscular abnormalities in culture in spinal muscular atrophy. Lancet 1995;345:694-695.
14. AAEM Quality Assurance Committee, American Association of Electrodiagnostic Medicine. Literature review of the usefulness of repetitive nerve stimulation and single fiber EMG in the electrodiagnostic evaluation of patients with suspected myasthenia gravis or Lambert-Eaton myasthenic syndrome. Muscle Nerve 2001;24: 1239-1247.
15. Costa J, Evangelista T, Conceicao I, de CarvalhoM. Repetitive nerve stimulation in myasthenia gravis: relative sensitivity of different muscles. Clin Neurophysiol 2004;115:2776-2782.
16. Kinali M, Beeson D, Pitt MC, et al. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol 2008;201-202:6-12.
17. BenatarM. A systematic review of diagnostic studies in myasthenia gravis. Neuromuscul Disord 2006;16:459-467.
18. Newsom-Davis J. The emerging diversity of neuromuscular junction disorders. Acta Myol 2007;26:5-10.
19. Lefebvre S, Burglen L, Frezal J, Munnich A, Melki J. The role of the SMN gene in proximal spinal muscular atrophy. Hum Mol Genet 1998;7:1531-1536.
20. Zerres K, Rudnik-Schoneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci 1997;146:67-72.
21. Glanzman AM, O'Hagen JM, McDermott MP, et al. Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol 2011;26:1499-1507.
22. Sanders DB. Clinical neurophysiology of disorders of the neuromuscular junction. J Clin Neurophysiol 1993;10:167-180.
23. Oh SJ, Kurokawa K, Claussen GC, Ryan HF Jr. Electrophysiological diagnostic criteria of Lambert-Eaton myasthenic syndrome. Muscle Nerve 2005;32:515-520.
24. Tomaszewicz K, Kang P,Wu BL. Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification. Beijing Da Xue Xue Bao 2005;37:55-57.
25. Conti-Fine BM, Milani M, Kaminski HJ. Myasthenia gravis: past, present, and future. J Clin Invest 2006;116:2843-2854.
26. Keesey JC. Clinical evaluation and management of myasthenia gravis. Muscle Nerve 2004;29:484-505.
27. Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 2005;57:704-712.
28. Henderson R, Baumann F, Hutchinson N, McCombe P. CMAP decrement in ALS.Muscle Nerve 2009;39:555-556.
29. Cifuentes-Diaz C, Nicole S, Velasco ME, et al. Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model. Hum Mol Genet 2002;11:1439-1447.
30. Bernstein LP, Antel JP. Motor neuron disease: decremental responses to repetitive nerve stimulation. Neurology 1981;31:204-207.
31. Maselli RA. Electrodiagnosis of disorders of neuromuscular transmission. Ann NY Acad Sci 1998;841:696-711.
32. Iwanami T, Sonoo M, Hatanaka Y, Hokkoku K, Oishi C, Shimizu T. Decremental responses to repetitive nerve stimulation (RNS) in motor neuron disease. Clin Neurophysiol 2011; 122:2530-2536.
33. Killian JM, Wilfong AA, Burnett L, Appel SH, Boland D. Decremental motor responses to repetitive nerve stimulation in ALS. Muscle Nerve 1994;17:747-754.
34. Kim JY, Park KD, Kim SM, Sunwoo IN. Repetitive nerve stimulation test in amyotrophic lateral sclerosis with predominant oropharyngeal manifestations. J Clin Neurol 2011;7:31-33.
35. Yamashita S, Sakaguchi H, Mori A, et al. Significant CMAP decrement by repetitive nerve stimulation is more frequent in median than ulnar nerves of patients with amyotrophic lateral sclerosis. Muscle Nerve 2012;45:426-428.
36. Wang FC, De Pasqua V, Gerard P, Delwaide PJ. Prognostic value of decremental responses to repetitive nerve stimulation in ALS patients. Neurology 2001;57:897-899.
37. Gurney ME, Pu H, Chiu AY, et al. Motor neuron degeneration in mice that express a human Cu, Zn superoxide dismutase mutation. Science 1994;264:1772-1775.
38. Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997;16:265-269.
39. Schara U, Lochmuller H. Therapeutic strategies in congenital myasthenic syndromes. Neurotherapeutics 2008;5:542-547.