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Syndrome mit gesteigerter neuromuskulärer Erregbarkeit: Stiff-man-Syndrom und Neuromyotonie

  • H.-M. Meinck

Zusammenfassung

Bei oberflächlicher Betrachtung ähneln sich Stiff-man-Syndrom und Neuromyotonie in ihrer klinischen Phänomenologie. Darüber hinaus sind beide Erkrankungen mit der Produktion von Autoantikorpern gegen neuronale Proteine assoziiert Unübersehbar sind jedoch auch die Unterschiede zwischen beiden Erkrankungen: Das Stiff-man-Syndrom ist eine Erkrankung des zentralen, die Neuromyotonie eine Erkrankung des peripheren Nervensystems. Die Autoantikörper gegen neuronale Antigene sind beim Stiff-man-Syndrom vermutlich nicht mehr als ein (relativ spezifisches) Begleitphänomen, bei der primären Neuromyotonie scheinen sie das entscheidende pathogenetische Agens zu sein.

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Literatur

  1. 1.
    Amato AA, Cornman EW, Kissel JT (1994) Treatment of stiff-man syndrome with intravenous immunoglobulin. Neurology 44:1652–1654PubMedGoogle Scholar
  2. 2.
    Asada H, Kawamura Y, Maruyama K, Kume H, Ding R-G, Ji FY, Kanbara N, Kuzume H, Sanbo M, Yagi T, Obata K (1996) Mice lacking the 65 kDa isoform of glutamic acid decarboxylase (GAD65) maintain normal levels of GAD 67 and GABA in their brains but are susceptible to seizures. Biochem Biophys Res Commun 229(3):891–895PubMedCrossRefGoogle Scholar
  3. 3.
    Asada H, Kawamura Y, Maruyama K, Kume H, Ding R-G, Kuzume H, Sanbo M, Yagi T, Obata K (1997) Cleft palate and decreased brain gamma-aminobutyric acid in mice lacking the 67-kDa isoform of glutamic acid decarboxylase. Proc Natl Acad Sci USA 94:6496–6499PubMedCrossRefGoogle Scholar
  4. 4.
    Asher R (1958) A woman with the stiff-man syndrome. Brit Med J(l):265–266Google Scholar
  5. 5.
    Auger RG (1994) Diseases associated with excess motor unit activity. Muscle Nerve 17:1250–1263PubMedCrossRefGoogle Scholar
  6. 6.
    Bady B, Chauplannaz G, Vial C, Savet J-C (1991) Autoimmune etiology for acquired neuromyotonia. Lancet 338:1338CrossRefGoogle Scholar
  7. 7.
    Barker RA, Revesz T, Thorn M, Marsden CD, Brown P (1998) Review of 23 patients affected by the stiff man syndrome: clinical subdivision into stiff trunk (man) syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity. J Neurol Neurosurg Psychiatry 65:633–640PubMedCrossRefGoogle Scholar
  8. 8.
    Brashear HR, Phillips LH (1991) Autoantibodies to GABAergic neurons and response to plasmapheresis in stiff-man syndrome. Neurology 41:1588–1592PubMedGoogle Scholar
  9. 9.
    Brown P, Rothwell JC, Marsden CD (1997) The stiff leg syndrome. J Neurol Neurosurg Psychiatry 62:31–37PubMedCrossRefGoogle Scholar
  10. 10.
    Condie BG, Bain G, Gottlieb DI, Capecci MR (1997) Cleft palate in mice with a targeted mutation in the gamma-aminobutyric acid-producing enzyme glutamic acid decarboxylase 67. Proc Natl Acad Sci USA 94:11451–11455PubMedCrossRefGoogle Scholar
  11. 11.
    Denny-Brown D, Foley JM (1948) Myokymia and the benign fasciculation of muscle cramps. Trans Assoc Am Phy 61:88–96Google Scholar
  12. 12.
    Dinkel K, Meinck HM, Jury KM, Karges W, Richter W (1998) Inhibition of gamma aminobutyric acid synthesis by glutamic acid decarboxylase autoantibodies in stiff-man syndrome. Ann Neurol 44:194–201PubMedCrossRefGoogle Scholar
  13. 13.
    Floeter MK, Valls-Sole J, Toro C, Jacobowitz D, Halle« M (1998) Physiologic studies of spinal inhibitory circuits in patients with stiff-person syndrome. Neurology 51:85–93PubMedGoogle Scholar
  14. 14.
    George TM, Burke JM, Sobotka PA, Greenberg HS, Vinik AI (1984) Resolution of stiff-man syndrome with Cortisol replacement in a patient with deficiencies of ACTH, growth horomone, and prolactin. N Engl J Med 310:1511–1513PubMedCrossRefGoogle Scholar
  15. 15.
    Gordon EE, Januszko DM, Kaufman L (1966) A critical survey of stiff-man syndrome. Amer J Med 42:582–599CrossRefGoogle Scholar
  16. 16.
    Hao W, Davis C, Hirsch IB, Eng LJ, Daniels T, Walsh D, Lernmark A (1999) Plasmapheresis and immunosuppression in stiff-man syndrome with type 1 diabetes: a 2-year study. J Neurol 246:731–735PubMedCrossRefGoogle Scholar
  17. 17.
    Harding AE, Thompson PD, Kocen RS, Batchelor JR, Davey N, Marsden CD (1989) Plasma exchange and immunosuppression in the stiff-man syndrome. Lancet 2(8668):915PubMedCrossRefGoogle Scholar
  18. 18.
    Hummel M, Durinivic-Bello I, Bonifacio E, Lampasona V, Endl J, Fessele S, Then Bergh F, Trenkwalder C, Standi E, Ziegler AG (1998) Humoral and cellular immune parameters before and during immunosuppressive therapy of a patient with stiff-man syndrome and insulin dependent diabetes mellitus. J Neurol Neurosurg Psychiatry 65:204–208PubMedCrossRefGoogle Scholar
  19. 19.
    Isaacs (1961) A syndrome of continuous muscle-fibre activity. J Neurol Neurosurg Psychiatry 24:319–325PubMedCrossRefGoogle Scholar
  20. 20.
    Jusic A, Dogan S, Stojanovic V (1972) Hereditary persistent distal cramps. J Neurol Neurosurg Psychiatry 35:379–384PubMedCrossRefGoogle Scholar
  21. 21.
    Khanlou H, Elger G (1999) Long-term remission of refractory stiff-man syndrome after treatment with intravenous immunoglobulin. Mayo Clin Proc 74:1231–1232PubMedCrossRefGoogle Scholar
  22. 22.
    Khasi S, Johnsson RS, Tecott LH, Noebels JL, Mayfield RD, Hanahan D, Baekkes-kov S (1997) Epilepsy in mice deficientin the 65-kDa isoform of glutamic acid decarboxylase. Proc Natl Acad Sci USA 94:14060–14065CrossRefGoogle Scholar
  23. 23.
    Koerner C, Dinkel K, Felgenhauer K, Richter, Meinck H-M (1999) eingereichtGoogle Scholar
  24. 24.
    Lorish TR, Thorsteinsson G, Howard FM (1989) Stiff-man syndrome updated. Mayo Clin Proc 64:629–636PubMedGoogle Scholar
  25. 25.
    Meinck H-M (1999) Neuromyotonie. In: Deuschel G, Hopf HC, Diener HC, Reichmann H (Hrsg) Neurologie in Praxis und Klinik, Bd 2. Thieme, Stuttgart, S 574–576Google Scholar
  26. 26.
    Meinck H-M (1999) Stiff-Man-Syndrom. In: Deuschel G, Hopf HC, Diener HC, Reichmann H (Hrsg) Neurologie in Praxis und Klinik, Bd 2. Thieme, Stuttgart, S 667–670Google Scholar
  27. 27.
    Meinck H-M (2000) Das Stiff-Man-Syndrom aus neurologischer Sicht. Internist 41:455–459PubMedCrossRefGoogle Scholar
  28. 28.
    Meinck H-M (2000) Immunomodulation in the stiff-man syndrome (abstract). Movement Disorders 15(suppl. 3):252Google Scholar
  29. 29.
    Meinck HM, Ricker K, Hülser PJ, Schmid E, Peiffer I, Solimena M (1994) Stiff-man syndrome: clinical and laboratory findings in eight patients. J Neurol 241: 157–166PubMedCrossRefGoogle Scholar
  30. 30.
    Meinck HM, Ricker K, Hülser PJ, Solimena M (1995) Stiff man syndrome: neuro-physiological findings in eight patients. J Neurol 242:134–142PubMedCrossRefGoogle Scholar
  31. 31.
    Meinck H-M, Thompson PD (2000) The stiff-man syndrome and related conditions. Movement Disorders, im DruckGoogle Scholar
  32. 32.
    Mertens HG, Zschocke S (1965) Neuromyotonie. Klin Wschr 43:917–925CrossRefGoogle Scholar
  33. 33.
    Moersch FP, Woltman H (1956) Progressive fluctuating muscular rigidity and spasms („stiff-man“ syndrome): report of a case and some observations in 13 other cases. Mayo Clin Proc 31:421–427Google Scholar
  34. 34.
    Morgenthaler NG, Seissler J, Achenbach P, Glawe D, Payton M, Meinck HM, Christie MR, Scherbaum WA (1997) Antibodies to the tyrosine phosphatase-like protein IA-2 are highly associated with IDDM, but not with Autoimmune Endocrine Diseases or Stiff Man Syndrome. Autoimmunity 25:203–211PubMedCrossRefGoogle Scholar
  35. 35.
    Newsom-Davis J, Mills KR (1993) Immunological associations of acquired neuro-myotonia (Isaacs’ syndrome). Report of five cases and literature review. Brain: 453–469Google Scholar
  36. 36.
    Piccolo G, Cosi V, Zandrini C, Moglia A (1988) Steroid-responsive and dependent stiff-man syndrome: a clinical and electrophysiological study of two cases. Ital J Neurol Sci 9(6):559–566PubMedCrossRefGoogle Scholar
  37. 37.
    Rosin L, De Camilli P, Butler M, Solimena M, Schmitt HP, Morgenthaler N, Meinck HM. (1998) Stiff-man syndrome in a woman with breast cancer: an uncommon central nervous system paraneoplastic syndrome. Neurology 50(l):94–98PubMedGoogle Scholar
  38. 38.
    Saiz A, Graus F, Valldeoriola F, Valls-Sole J, Tolosa E (1998) Stiff-leg syndrome: a focal form of stiff-man syndrome. Ann Neurol 43:400–430PubMedCrossRefGoogle Scholar
  39. 39.
    Seissler J, Morgenthaler NG, Achenbach P, Lampeter EF, Glawe D, Payton M, Christie M, Scherbaum WA (1996) Combined screening for autoantibodies to IA-2 and antibodies to glutamic acid decarboxylase in first degree relatives of patients with IDDM. Diabetologia 39:1351–1356PubMedCrossRefGoogle Scholar
  40. 40.
    Seissler J, Scherbaum WA (2000) Das Stiff-Man-Syndrom aus internistischer und immunologischer Sicht. Internist 41:460–466PubMedCrossRefGoogle Scholar
  41. 41.
    Sevrin C, Moulin T, Tatu L, Monnier G, Rumbach L, Sevrin P (1998) „Stiff-man“ Syndrome treated with intravenous immunoglobulins. Rev Neurol (Paris) 154:431Google Scholar
  42. 42.
    Shillito P, Molenaar PC, Vincent A, Leys K, Zheng W, van den Berg RJ, Plomp JJ, van Kempen GT, WA Chauplannaz G et al (1995) Acquired neuromyotonia: evidence for autoantibodies directed against K+ channels of peripheral nerves. Ann Neurol 38:714–722PubMedCrossRefGoogle Scholar
  43. 43.
    Sinha S, Newsom-Davis J, Mills K, Byrne N, Lang B, Vincent A (1991) Autoimmune etiology for acquired neuromyotonia (Isaacs’ syndrome). Lancet 338:75–77PubMedCrossRefGoogle Scholar
  44. 44.
    Solimena M, De Camilli P (1991) Autoimmunity to glutamic acid decarboxylase in Stiff-man syndrome and insulin-dependent diabetes mellitus. Trends Neurosci 14:452–457PubMedCrossRefGoogle Scholar
  45. 45.
    Solimena M, Folli F, Aparisi R, Pozza G, De Camilli P (1990) Autoantibodies to GABAergic neurons and pancreatic beta cells in stiff-man syndrome. N Engl J Med 322:1555–1560PubMedCrossRefGoogle Scholar
  46. 46.
    Stayer C, Meinck H-M (1998) Stiff-man syndrome: an overview. Neurologia 13:83–88PubMedGoogle Scholar
  47. 47.
    Stayer C, Tronnier V, Dressnandt J, Mauch E, Marquardt G, Rieke K, Miiller-Schwefe G, Schumm F, Meinck HM (1997) Intrathecal baclofen therapy for stiff-man syndrome and progressive encephalomyelopathy with rigidity and myoclonus. Neurology 49:1519–1597Google Scholar
  48. 48.
    Tuite PJ, Navarette C, Bril V, Lang AE (1996) Idiopathic generalized myokymia (Isaacs’ syndrome) with hand posturing resembling dytonia. Movement Disorders 11:448PubMedCrossRefGoogle Scholar
  49. 49.
    Vicari AM, Folli F, Pozza G et al (1989) Plasmapheresis in the treatment of stiff-man syndrome. N Engl J Med 320:1499–1499PubMedGoogle Scholar
  50. 50.
    Vincent A (2000) Understanding neuromyotonia. Muscle Nerve 23:655–657PubMedCrossRefGoogle Scholar
  51. 51.
    Vincent A, Lily O, Palace J (1999) Pathogenic autoantibodies to neuronal proteins in neurological disorders. J Neuroimmunol 100:169–180PubMedCrossRefGoogle Scholar
  52. 52.
    Zielasek J, Martini R, Suter U, Toyka KV (2000) Neuromyotonia in mice with hereditary myelinopathies. Muscle Nerve 23:696–701PubMedCrossRefGoogle Scholar

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© Steinkopff Verlag Darmstadt 2001

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  • H.-M. Meinck

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