Emerging treatments in myopathies

European Neurology

Volumn 38, Issue 3, 1997, Pages 222-229

  Antozzi, Carlo ^a   Confalonieri, Paolo ^a   Mantegazza, Renato ^a   Di Donato, Stefano ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Inflammatory myopathies; Metabolic myopathies; Muscular dystrophies; Therapy

Indexed keywords

ION CHANNEL;

AEROBIC METABOLISM; ARTICLE; FATTY ACID OXIDATION; GENE MUTATION; GENE THERAPY; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; MITOCHONDRIAL MYOPATHY; MOLECULAR BIOLOGY; MUSCULAR DYSTROPHY; MYOPATHY; PRIORITY JOURNAL;

ANIMALS; DEFICIENCY DISEASES; DISEASE MODELS, ANIMAL; GENE THERAPY; HUMANS; IMMUNOSUPPRESSIVE AGENTS; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIAL MYOPATHIES; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES; MYOSITIS; TISSUE TRANSPLANTATION; VITAMINS;

EID: 0030921795     PISSN: 00143022     EISSN: 14219913     Source Type: Journal    
DOI: 10.1159/000113377     Document Type: Article

References (66)

1. Moraes CT: Mitochondrial disorders, Curr Opin Neurol 1996:9:369-374.
2. Bresolin N, Bet L, Binda A, Moggio M, Comi G, Nador F, Ferrante C, Carcnzi A, Scarlato G: Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q, Neurology 1988:38:892-899.
3. Ogasahara S, Nishikawa Y, Yorifuji S, Soga F, Nakamura Y, Takahashi M, Hashimoto S, Kono N, Tarui S: Treatment of Keams-Sayrc syndrome with coenzyme Q10. Neurology 1986;36:45-53.
4. 31P NMR spectroscopy and er-gomcter exercise test as evidence for muscle oxidative performance improvement with cocnzymc Q in mitochondrial myopathies, Neurology 1992;2:1203-1208.
5. Matthews PM, Ford B, Dandurand RJ, Eidcl-man DH, OConnor D, Sherwin A, Karpati G, Andermann F, Arnold DL: Coenzyme Q10 and multiple vitamins is generally ineffective in treatment of mitochondrial disease, Neurology 1993:43:884-890.
6. Ihara Y, Namba R, Kuroda S, Sato T, Shirabe T: Mitochondrial cnccphalomyopathy (MELAS): Pathological study and successful therapy with coenzyme Qk and idebenone, J Neurol Sei 1989:90:263-271.
7. 3IP-NMR follow-up study, Ann Neurol 1986:19:598- 602.
8. Bernsen PUA, Gabreels FJM, Ruitenbeek W, Hamburger HL: Treatment of complex 1 defi-ciencv wih riboflavin, J Neurol Sei 1993:118: 181-187.
9. Stacpoolc PW, Wright EC, Baumgartner TG, Bersin RM, Buchaltcr S, Curry SC, Duncan CA, Harman EM, Henderson GN, Jcnkinson S, Lachin JM, Lorenz A, Schneider SH, Siegel JH, Summer WR, Thompson D, Wolfe CL, Zorovich B and the Dichloroacctate-Lactic Acidosis Study Group: A controlled clinical trial of dichloroacetatc for treatment of lactic acidosis in adults, N Engl J Med 1992;327: 1564-1569.
10. DeStefano N, Matthews PM, Ford B, Genge A, Karpati G, Arnold DL: Short-term dichloro-acetale treatment improves indices of cerebral metabolism in patients w ith mitochondrial disorders, Neurology 1995:45:1193-1198.
11. 3IP-MRS in a patient with mitochondrial cytopathv, J Neurol 1995:242:472-477.
12. Scibel P, Trappe J, Villani G, Klopstock T, Papa S, Reichmann H: Transfection of mitochondria: Strategy towards a gene therapy of mitochondrial DNA disorders, Nucl Acid Res 1995:93:10-17
13. DiDonato S: Disorders of lipid metabolism affecting skeletal muscle: Carnitine deficiency syndromes, defects in the catabolic pathway and Chanarin disease: in Engel AG, Franzini-Armstrong C (eds): Myology, cd 2. New York, McGraw Hill, 1994. vol 2. pp 1587-1609.
14. Garavaglia B, Uzici G, Dworzak F, Carrara F, DiDonato S: Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation, Neurology 1991:41:1691-1693.
15. DiDonato S, Gellcra C, Peluchetti D, Uzici G, Antonclli A, Lus G, Rimoldi M: Normalization of short-chain acylcoenzymc A dehydrogenase alter riboflavin treatment in a girl with multiple acylcoenzymc A dehydrogenase deficient myopathy, Ann Neurol 1989;25:479-484.
16. Peluchetti D, Antozzi C, Roi S, DiDonato S, Comelio F: Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency: Functional evaluation of recovery after high dose vitamin supplementation, J Neurol Sei 1991:105: 93-98.
17. Antozzi C, Garavaglia B, Mora M, Rimoldi M, Morandi L, Ursino E, DiDonato S: Late-onsct riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency, Neurology 1994:44:2153-2158.
18. Dalakas MC: Current treatment of the inflammatory myopathies, Curr Opin Rheumatol 1994:6:595-601.
19. Engel AG, Hohlfeld R, Banker BQ: Inflammatory myopathies: in Engel AG, Franzini-Arm-strong C (eds): Myology, ed 2. New York, McGraw Hill, 1994 vol 2. pp 1335-1384.
20. Askanas A, Engel KW: New advances in inclu-sion-body myositis, Curr Opin Rheumatol 1993;5:732-741.
21. Mantegazza R, Andrectta F, Bemasconi P, Baggi F, Oksenbcrg JR, Simoncini O, Mora M, Comelio F, Steinman L: Analysis of T cell receptor repertoire of muscle-infiltrating T lymphocytes in polymyositis, Restricted V a/b rearrangements may indicate antigen-driven selection, J Clin Invest 1993:91:2880-2886.
22. Barohn RI, Amato AA, Sahenk Z, Kissel JT, Mendell JR: Inclusion body myositis: Explanation for poor response to immunosuppressive therapy, Neurology 1995;45:1302-1304.
23. Sinoway PA, Callen JP: Chlorambucil, an effective corticosteroid-sparing agent for patients with recalcitrant dermatomyositis, Arthritis Rheum 1993:36:319-324.
24. Lueck CJ, Trend P, Swash M: Cyclosporin in the management of polymyositis and dcrmato-myosilis, J Neurol Neurosurg Psychiatry 1991; 54:1007-1008.
25. Miller FW, Lcitman SF, Cronin ME, Hicks JE, Lel TRL, Wesley R, Fraser DD, Dalakas M, Plotz PH: Controlled trial of plasma exchange and leukaphercsis in polymyositis and derma-tomvositis, N Engl J Med 1992:326:1380- 1384.
26. Dalakas MC, Ilia I, Dambrosia JM, Soueidan SA, Stein DP, Otero C, Dinsmore ST, McCros-ky S: A controlled trial of high-dose intravenous immunoglobulin infusions as treatment for dermatomyositis, N Engl J Med 1993:329: 1993-2000
27. Souedain SA, Dalakas MC: Treatment of inclu-sion-bodv myositis with high-dose intravenous immunoglobulin, Neurology 1993:43:876- 879.
28. Amato AA, Barohn RJ, Jackson CE, Pappert EJ, Sahenk Z, Kissel JT: Inclusion body myositis: Treatment with intravenous immunoglobulin, Neurology 1994:44:1516-1518.
29. Lanzavccchia A: Identifying strategics for immune intervention, Science 1993:260:937- 944.
30. Campbell KP: Three muscular dystrophies: loss of cytoskeleton-cxtracellular matrix linkage, Cell 1995:80:675-679.
31. Ozawa E, Yoshida M, Suzuki A, Mizuno Y, Hagiwara Y, Noguchi S: Dystrophin-associated proteins in muscular dystrophy, Hum Mol Genet 1995:4:1711-1716.
32. Law PK, Goodwin TG, Wang MG: Normal myoblast injections provide genetic treatment for murine dystrophy, Muscle Nerve 1988:11: 525-533.
33. Partridge TA, Morgan JE, Coulton GR, Hoffman EP, Kunkel LM: Conversion of mdx mvofibers from dvstrophin-negativc to -positive by injection of normal myoblasts, Nature 1989;337:176-179.
34. Karpati G, Pouliot Y, Zubrzyvcka-Gaarn E, Carpenter S, Rav PN, Worton RG, Holland P: Dystrophin is expressed in mdx skeletal muscle fibers after normal myoblast implantation, Am J Pathol 1989;135:27-32.
35. Gussoni E, Pavlath G, Lanctot AM, Sharma KR, Miller RG, Steinman L, Blau HM: Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation, Nature 1992:356:435-438.
36. Karpati G, Ajdukovic D, Arnold D, Glcdhill RB, Guttmann R, Holland P, Koch PA, Shoub-ridge E, Spence D, Vanasse M, Watters GV, Abrahamowicz M, Duff C, WortonRG: Myoblast transfer in Duchenne muscular dystrophy, Ann Neurol 1993;34:8-17.
37. Huard J, Bouchard JP, Rov R, Malouin F, Dansercau G, Labrecque C, Albert N, Richards CL, Lemicux B, Tremblay JP: Human myoblast transplantation: Preliminary results of 4 cases, Muscle Nerve 1992;15:550-560.
38. Tremblay JP, Malouin F, Roy R, Huard J, Bouchard JP, Satoh A, Richards CL: Results of a triple blind clinical study of myoblast transplantations without immunosuppressive treatment in young boys with Duchenne muscular dystrophy, Cell Transplant 1993:2:99-112.
39. Law PK, Goodwin TG, Fang Q, Duggirala V, Larkin C, Florendo JA, Kirby DS, Dcering MB, Li HJ, Chen M: Feasibility, safety, and efficacy of myoblast transfer therapy on Du-chcnne muscular dystrophy boys, Cell Transplant 1992:1:1235-1244.
40. Morandi L, Bernasconi P, Gebbia M, Mora M, Crosti F, Mantegazza R and Comelio F: Lack of niRNA and dystrophin expression in DMD patients three months after myoblast transfer, Ncuromuscul Disord 1995:5:291-295.
41. Mendell JR, Kissel JT, Amato AA, King W, Signore L, Prior TW, Sahcnk Z, Benson S, McAndrew PH, Rice R, Nagaraja H, Stephens R, Lantry L, Morris GE, Burghes AHM: Myoblast transfer in the treatment of Duchcnne's muscular dystrophy, N Engl J Med 1995:333: 832-838.
42. Thompson L: Researchers call fora timeout on ccll-transplant research, Science 1992;257: 738.
43. Labrecquc C, Roy R, Tremblay JP: Immune reactions after myoblast transplantation in mouse muscles, Transplant Proc 1992:24: 2889-2892.
44. Hohlfcld R, Engel AG: Induction of HLA-DR expression on human myoblasts with interfer-on-gantma, AntJ Pathol 1990:136:503-508.
45. Mantegazza R, Gebbia M, Mora M, Barrcsi R, Bernasconi P, Baggi F, Cornelio F: Major histocompatibility complex class 11 molecule expression on muscle cells is regulated by differentiation: Implications for the immunopathogenesis of muscle autoimmune diseases, J Ncuroimm-nol 1996:68:53-60.
46. McDouall RM, Dunn MJ, Dubowitz V: Nature of the mononuclear infiltrate and the mechanisms of muscle damage in juvenile dermato-myositis and Duchcnne muscular dystrophy, J Neurol Sci 1990;99:199-217.
47. Arahata K, Engel AG: Monoclonal antibody analysis of mononuclear cells in myopathies, T Quantitation of subsets according to diagnosis and sites of accumulation and demonstration and counts of muscle cells invaded by T cells, Ann Neurol 1984:16:193-208.
48. Mantegazza R, Andreetta F, Bernasconi P, Baggi F, Oksenberg JR, Simoncini O, Mora M, Cornelio F, Steinman L: Analysis of T cell receptor repertoire of muscle-infiltrating T lymphocytes in polymyositis, J Clin Invest 1993;91:2880-2886.
49. Gussoni E, Pavlath GK, Miller RG, Panzara MA, Powell M, Blau HM, Steinman L: Specific T cell receptor rearrangements at the site of muscle degeneration in Duchenne muscular dystrophy, J Immunol 1994:153:4798-4805.
50. Bernasconi P, Torchiana E, Confalonieri P, Brugnoni R, Barrcsi R, Mora M, Comelio F, Morandi L, Mantegazza R: Expession of TGF-51 in dystrophic patient muscles correlates with fibrosis, J Clin Invest 1995:96:1137- 1144.
51. D’Amore PA, Brown RII, Ku PT, Hoffman EP, Watanabe H, Arahata K, Ishihara T, Folk-man J: Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy, Ann Neurol 1994:35:362-365.
52. Bartoccioni E, Michaelis D, Hohlfeld R: Constitutive and cytokine-induced production of interleukin-6 by human myoblasts, Immunol Lett 1994:42:135-138.
53. Neumcyer AM, DiGregorio DM, Brown RH: Arterial delivery of myoblasts to skeletal muscle, Neurology 1992;42:2258-2262.
54. Partridge TA, Davies KE: Myoblast-based gene therapies, Br Med Bull 1995:51:123-137.
55. WolIT JA, Malone RW, Williams P, Chong W, Acsadi G, Jani A, Feigner PL: Direct gene transfer into mouse skeletal muscle in vivo, Science 1990:247:1465-1468.
56. Acsadi G, Dickson G, Love DR, Jani A, Walsh FS, Ciurusinghe A, WolIT JA, Davies KE: Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs Nature 1991;352:815-818.
57. Stardford-Pcmcaudct LD, Makeh I, Perricau-det M, Briande P: Widespread long-term gene transfer to mouse skeletal muscles and heart, J Clin Invest 1992:90:626-630.
58. Dunklev MG, Love DR, Davies KE, WWalsh FS, Morris GE, Dickson G: Rctroviral-mc-diated transfer of a dystrophin minigcnc into mdx mouse myoblasts in vitro, FEBS Lett 1992;2:717-723.
59. Brooke MH, Fcnichcl GM, Criggs RC, Mendell JR, Moxley RT, Miller JP, Kaiser K, Florence JM, Pandya S, Signore L, King W, Robison J, Head RA, Province MA, Seyfried W, Mandel S: Clinical investigation of Duchenne muscular dystrophy, Interesting results in a trial with prednisone, Arch Neurol 1987;44:812-817.
60. DeSilva S, Drachntan DB, Mellilis D, Kuncl RW: Prednisone treatment in Duchenne muscular dystrophy, Long-term benefit, Arch Neurol 1987;44:818-822.
61. Mendell JR, Moxley RT, Criggs RC, Brooke MH, Fcnichcl GM, Miller JP, King W, Signore L, Pandya S, Florence J, Schierbcckcr J, Robison J, Kaiser K, Mandel S, Arfken C, Gilder B: Randomized, double-blind six months trial of prednisone in Duchcnne’s muscular dvstrophv, N Engl J Med 1989:320:1592-1597. ‘
62. Fenichel GM, Florence JM, Pestronk A, Mendell JR, Moxley RT, Criggs RC, Brooke MH, Miller JP, Robison J, King W, Signore L, Pandya S, Schierbecker J, Wilson B: Long-term benefit from prednisone therapy in Duchenne muscular dystrophy, Neurology 1991:41:1874-1877.
63. Criggs RC, Moxley RT, Mendell JR, Fenichel GM, Brooke MH, Pestronk A, Miller JP, Cwik VA, Pandya S, Robison J, King W, Signore L, Schierbcckcr J, Florence J, Mathcson-Burdcn N, Wilson B: Duchenne dystrophy: Randomized, controlled study of prednisone 18 months and azathioprine (12 months), Neurology 1993;43:520-527.
64. Sharma KR, Mynhicr MA, Miller RG: Cyclosporin increases muscular force generation in Duchenne muscular dystrophy, Neurology 1993;43:527-532.
65. Kissel JT, Lynn DJ, Rammohan KW, Klein JP, Criggs RC, Moxley RT, Cwik VA, Brooke MH, Mendell JR: Mononuclear cell analysis of muscle biopsies in prednisone- and azathioprine-treated Duchenne muscular dystrophy, Neurology 1993:43:532-536.
66. Hardiman O, Sklar RM, Brown RH: Melhyl-prednisolone selectively affects dystrophin expression in human muscle cultures, Neurology 1993;43:342-345