Skip to main content

Disturbi della giunzione neuromuscolare

  • Chapter
Terapia delle malattie neurologiche
  • 1134 Accesses

Riassunto

I disturbi della giunzione neuromuscolare (GNM) comprendono, in base alla loro eziologia, due gruppi principali di patologie: le forme acquisite, ovvero le canalopatie autoimmuni, e quelle genetiche rappresentate dalle sindromi miasteniche congenite. Le canalopatie autoimmuni sono accomunate, sul piano patogenetico, dalla presenza di autoanticorpi diretti contro differenti canali ionici della terminazione nervosa e comprendono la miastenia grave (MG), la sindrome miasteniforme di Lambert-Eaton (LEMS) e la neuromiotonia acquisita (NM).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 29.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 39.95
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 54.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Bibliografia

  1. Drachman DB. Myasthenia Gravis. N Engl J Med 1994; 330:1797–1810.

    Article  CAS  PubMed  Google Scholar 

  2. Vincent A, Drachman DB. Myasthenia gravis. Adv Neurol 2002; 88:159–188.

    CAS  PubMed  Google Scholar 

  3. Lindstrom JM. Acetylcholine receptors and myasthenia. Muscle & Nerve 2000; 23:453–477.

    Article  CAS  Google Scholar 

  4. Vincent A. Unraveling the pathogenesis of myasthenia gravis. Nat Rev Immunol 2002; 2:797–804.

    Article  CAS  PubMed  Google Scholar 

  5. Hoch W, McConville J, Helms S et al. Auto-antibodies to the receptor tyrosine kinase MUSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nat Med 2001; 7:365–368.

    Article  CAS  PubMed  Google Scholar 

  6. Plested CP, Tang T, Spreadbury I et al. AChR phosphorylation and indirect inhibition of AChR function in seronegative MG. Neurology 2002; 59:1682–1688.

    CAS  PubMed  Google Scholar 

  7. Task Force of the Medical Advisory Board of the Myasthenia Gravis Foundation of America; Jaretzki A, Barohn RJ, Ernstoff RM et al. Myasthenia Gravis. Recommendations for clinical research standards. Neurology 2000; 55:16–23.

    PubMed  Google Scholar 

  8. Evoli A, Tonali P, Padua L et al. Clinical correlates with anti-MUSK antibodies in generalized seronegative myasthenia. Brain 2003; 126:2304–2311.

    Article  PubMed  Google Scholar 

  9. Sghirlanzoni A, Peluchetti D, Mantegazza R et al. Myasthenia gravis:prolonged treatment with steroids. Neurology 1984; 34:170–174.

    CAS  PubMed  Google Scholar 

  10. Mantegazza R, Antozzi C, Peluchetti D et al. Azathioprine as a single drug or in combination with steroids in the treatment of myasthenia gravis. J Neurol 1988; 235:449–453.

    Article  CAS  PubMed  Google Scholar 

  11. Hohlfeld R, Toyka K, Besinger UA et al. Myasthenia gravis:reactivation of clinical disease and of autoimmune factors after discontinuation of long-term azathioprine. Ann Neurol 1985; 17:238–242.

    Article  CAS  PubMed  Google Scholar 

  12. Palace J, Newsom-Davis J. Lecky B and the Myasthenia Gravis Study Group. A randomized doubleblind trial of prednisolone alone or with azathioprine in myasthenia gravis. Neurology 1998; 50:1778–1783.

    Google Scholar 

  13. Tindall RS, Rollins JA, Phillips JT et al. Preliminary results of a double-blind, randomized, placebo-controlled trial of cyclosporine in myasthenia gravis. N Engl J Med 1987; 316:719–724.

    CAS  PubMed  Google Scholar 

  14. Chaudhry V, Cornblath DR, Griffin JW et al. Mycophonolate mofetil:a safe and promising immunosuppressant in neuromuscular diseases. Neurology 2001; 56:94–96.

    CAS  PubMed  Google Scholar 

  15. Ciafaloni E, Massey JM, Tucker-Lipscomb B et al. Mycophenale mofetil for myasthenia gravis. Neurology 2001; 56:97–99.

    CAS  PubMed  Google Scholar 

  16. Sanders DB, Hart IK, Mantegazza R et al. An international, phase III, randomized controlled study of mycophenolate mofetil in myasthenia gravis. Neurology, in corso di stampa.

    Google Scholar 

  17. Antozzi C, Gemma M, Regi B et al. A short plasma exchange protocol is effective in severe myasthenia gravis. J Neurol 1991; 238:103–107.

    Article  CAS  PubMed  Google Scholar 

  18. Gajdos P, Chevret S, Toyka K. Plasma exchange for myasthenia gravis. Cochrane Database Syst Rev 2002; 4:CD002–275.

    Google Scholar 

  19. Antozzi C, Berta E, Confalonieri P et al. Protein-A immunoadsorption in immunosuppression resistant myasthenia gravis. Lancet 1994; 383:124.

    Article  Google Scholar 

  20. Berta E, Confalonieri P, Simoncini O et al. Removal of antiacetylcholine receptor antibodies by protein A immunoadsorption in myasthenia gravis. Int J Artif Organs 1994; 11:603–608.

    Google Scholar 

  21. Howard JF. Intravenous immunoglobulins for the treatment of acquired myasthenia gravis. Neurology 1998; 51 (Suppl 5):S30–S36.

    PubMed  Google Scholar 

  22. Ferrero B, Durelli L. High-dose intravenous immunoglo bulin G treatment of myasthenia gravis. Neurol Sci 2002; 23 (Suppl 1):S9–24.

    Article  PubMed  Google Scholar 

  23. Gajdos P, Chevret S, Clair B et al. for the Myasthenia Gravis Clinical Study Group. Clinical trial of plasma exchange and high-dose intravenous immunoglobulin in myasthenia gravis. Ann Neurol 1997; 41:789–796.

    Article  CAS  PubMed  Google Scholar 

  24. Stricker RB, Kwiatkowska BJ, Habis JA et al. Myasthenia gravis:response to plasmapheresis following failure of intravenous immunoglobulins. Arch Neurol 1993; 50:837–840.

    CAS  PubMed  Google Scholar 

  25. Marx A, Muller-Hermelink HK. From basic immunobiology to the upcoming WHO-Classification of tumors of the thymus. Pathol Res Pract 1999; 195:515–533.

    CAS  PubMed  Google Scholar 

  26. Jaretski A III. Thymectomy for myasthenia gravis. Analysis of the controversies regarding technique and results. Neurology 1997; 48 (Suppl 5):S52–S63.

    Google Scholar 

  27. Gronseth GS, Barohn RJ. Practice parameter: thymectomy for autoimmune myasthenia gravis (an evidence based review). Report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 2000; 55:7–15.

    CAS  PubMed  Google Scholar 

  28. Mantegazza R, Baggi F, Bernasconi P et al. Video-assisted thoracoscopic extended thymectomy and extended transternal thymectomy (T-3b) in non-thymomatous myasthenia gravis patients:remission after 6 years of follow-up. J Neurol Sci 2003; 212:31–36.

    Article  PubMed  Google Scholar 

  29. Sanders DB. Lambert-Eaton myasthenic syndrome: clinical diagnosis, immune-mediated mechanisms, and update on therapies. Ann Neurol 1995; 37 (Suppl 1):S63–73.

    Article  PubMed  Google Scholar 

  30. Sanders DB. The Lambert-Eaton myasthenic syndrome. Adv Neurol 2002; 88:189–201.

    PubMed  Google Scholar 

  31. Fukuda T, Motomura M, Nakao Yet al. Reduction of P/Q-type calcium channels in the postmortem cerebellum of paraneoplastic cerebellar degeneration with Lambert-Eaton myasthenic syndrome. Ann Neurol 2003; 53:21–28.

    Article  CAS  PubMed  Google Scholar 

  32. Newsom-Davis J, Murray NMF. Plasmaexchange and immunosuppressive drug treatment in the Lambert-Eaton myasthenic syndrome. Neurology 1984; 34:480–485.

    CAS  PubMed  Google Scholar 

  33. Bain PG, Motomura M, Newsom-Davis J et al. Effects of intravenous immunoglobulin on muscle weakness and calcium-channel autoantibodies in the Lambert-Eaton myasthenic syndrome. Neurology 1996; 47:678–683.

    CAS  PubMed  Google Scholar 

  34. Newsom-Davis J, Mills KR. Immunological associations of acquired neuromyotonia (Isaacs’ syndrome). Report of five cases and literary review. Brain 1993; 116:453–469.

    Article  PubMed  Google Scholar 

  35. Liguori R, Vincent A, Clover L et al. Morvan’s syndrome: peripheral and central nervous system and cardiac involvement with antibodies to voltage-gated potassium channels. Brain 2001; 124:2417–2426.

    Article  CAS  PubMed  Google Scholar 

  36. Hart IK, Waters C, Vincent A et al. Autoantibodies detected to expressed K+ channels are implicated in neuromyotonia. Ann Neurol 1997; 41:238–246.

    Article  CAS  PubMed  Google Scholar 

  37. Vincent A. Understanding neuromyotonia. Muscle Nerve 2000; 23:655–657.

    Article  CAS  PubMed  Google Scholar 

  38. Hart IK, Maddison P, Newsom-Davis J et al. Phenotypic variants of autoimmune peripheral nerve hyperexcitability. Brain 2002; 125:1887–1895.

    Article  PubMed  Google Scholar 

  39. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes:progress over the past decade. Muscle & Nerve 2003; 27:4–25.

    Article  Google Scholar 

  40. Congenital myasthenic syndromes:gene mutations. Neuromuscular Disorders 2003; 13:446–448.

    Google Scholar 

  41. Goonetilleke A, Harris JB. Clostridial neurotoxins. Journal of Neurology Neurosurgery Psychiatry 2004; 75(Suppl.III):35–39.

    Google Scholar 

  42. Pellizzari R, Rossetto O, Schiavo G et al. Tetanus and botulinum neurotoxins:mechanisms of action and therapeutic uses. Phil Trans R Soc Lond 1999; 354:359–368.

    Google Scholar 

  43. Cherington M. The clinical spectrum of botulism. Muscle & Nerve 1998; 21:701–710.

    Article  CAS  Google Scholar 

  44. Lindstrom M, Korkeala H. Laboratory diagnostics of botulism. Clinical Microbiology Reviews 2006; 19:298–314.

    Article  CAS  PubMed  Google Scholar 

  45. Bossi P, Tegnell A, Baka A et al. Bichat guidelines for the clinical management of botulism and bioterrorism-related botulism. Euro Surveill 2004; 9 (12) — E13–14. http://www.eurosurveillance.org.

    PubMed  Google Scholar 

  46. F Farrar JJ, Yen LM, Cook T et al. Tetanus. J Neurol Neurosurg Psychiatry 2000; 69:292–301.

    Article  CAS  PubMed  Google Scholar 

  47. G Cook TM, Protheroe RT, Handel JM. Tetanus: a review of the literature. British Journal of Anesthesia 2001; 87:477–487.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2009 Springer-Verlag Italia

About this chapter

Cite this chapter

Antozzi, C. (2009). Disturbi della giunzione neuromuscolare. In: Terapia delle malattie neurologiche. Springer, Milano. https://doi.org/10.1007/978-88-470-1120-5_39

Download citation

  • DOI: https://doi.org/10.1007/978-88-470-1120-5_39

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-1119-9

  • Online ISBN: 978-88-470-1120-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics