Stiff-man syndrome: From the bedside to the bench

1999; Wiley; Volume: 42; Issue: 7 Linguagem: Inglês

10.1002/1529-0131(199907)42

ISSN

1529-0131

Autores

Simon M. Helfgott,

Tópico(s)

Complement system in diseases

Resumo

Arthritis & RheumatismVolume 42, Issue 7 p. 1312-1320 Special ArticleFree to Read Stiff-man syndrome: From the bedside to the bench Simon M. Helfgott, Corresponding Author Simon M. Helfgott Harvard Medical School, Brigham and Women's and Massachusetts General Hospitals, Boston, MassachusettsBrigham and Women's Hospital, PBBH, B-3, 45 Francis Street, Boston, MA 02115Search for more papers by this author Simon M. Helfgott, Corresponding Author Simon M. Helfgott Harvard Medical School, Brigham and Women's and Massachusetts General Hospitals, Boston, MassachusettsBrigham and Women's Hospital, PBBH, B-3, 45 Francis Street, Boston, MA 02115Search for more papers by this author First published: 26 April 2001 https://doi.org/10.1002/1529-0131(199907)42:7 3.0.CO;2-WCitations: 22AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES 1 Moersch FP, Woltman HW. Progressive fluctuating muscular rigidity and spasm ("stiff-man" syndrome): report of a case and some observations in 13 other cases. Mayo Clin Proc 1956; 31: 421–7. 2 Howard FM Jr. A new and effective drug in the treatment of stiff-man syndrome. Mayo Clin Proc 1963; 38: 203–12. 3 Werk EE Jr, Sholiton LS, Marnell RT. The "stiff-man" syndrome & hyperthyroidism. Am J Med 1961; 31: 647–53. 4 George TM, Nburke JM, Sobotka PA, Greenberg HS, Vinik AI. Resolution of stiff-man syndrome with cortisol replacement in a patient with deficiencies of ACTH, growth hormone and prolactin. N Engl J Med 1984; 310: 1511–3. 5 Lorish TR, Thorsteinsson G, Howard FM Jr. Stiff-man syndrome updated. Mayo Clin Proc 1989; 14: 629–36. 6 Asher R. A woman with the stiff-man syndrome. BMJ 1958; 1: 265–6. 7 Trethowan WH, Allsop JL, Turner B. The stiff-man syndrome: a report of two further cases. Arch Neurol 1960; 3: 448–56. 8 Solimena M, Folli F, Denis-Donini S, Comi GC, Pozza G, DeCarmilli P, et al. Autoantibodies to glutamic acid decarboxylase in a patient with stiff-man syndrome, epilepsy and type I diabetes mellitus. N Engl J Med 1988; 318: 1012–20. 9 Solimena M, Folli F, Aparisi R, Pozza G, DeCamilli P. Autoantibodies to GABA-ergic neurons and pancreatic beta cells in stiff-man syndrome. N Engl J Med 1990; 322: 1555–60. 10 Kissel JT, Elble RJ. Stiff-person syndrome: stiff opposition to a simple explanation. Neurology 1998; 51: 11–4. 11 Daras M, Spiro AJ. "Stiffman syndrome" in an adolescent. Pediatrics 1981; 67: 725–6. 12 Udani VP, Dharnidharka VR, Gajendragadke AR, Udani SV. Sporadic stiffman syndrome in a young girl. Pediatr Neurol 1997; 17: 58–60. 13 McEvoy K. Stiff-man syndrome. In: S Feske, M Samuels, editors. Office practice neurology. New York: Churchill Livingstone; 1996. p. 691–5. 14 Stayer C, Tronnier V, Dressnandt J, Mauch E, Marquardt G, Rieke K, et al. Intrathecal baclofen therapy for stiff-man syndrome and progressive encephalomyelopathy with rigidity and myoclonus. Neurology 1997; 49: 1591–7. 15 Kimura J. Electrodiagnosis in diseases of nerve and muscle: principles and practice. 2nd ed. Philadelphia: FA Davis; 1989. 16 Tinsley JA, Barth EM, Black JL, Williams DE. Psychiatric consultations in stiff-man syndrome. J Clin Psychiatry 1997; 58: 44–9. 17 Henningsen P, Clement U, Kuchenhoff J, Simon F, Meinck HM. Psychological factors in the diagnosis and pathogenesis of stiff-man syndrome. Neurology 1996; 47: 38–42. 18 Mitsumoto H, Schwartzman MJ, Estes ML, Chou SM, Lafranchise EF, DeCamilli P, et al. Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome. J Neurol 1991; 238: 91–6. 19 Maccario M, Blaugh JR, Mena H. Sudden death in Moersch-Woltman syndrome. Neurology 1984; 34: 407–9. 20 Martinelli P, Pazzaglia P, Montagna P, Coccagna G, Rizzuto N, Simonati S, et al. Stiff-man syndrome associated with nocturnal myoclonus and epilepsy. J Neurol Neurosurg Psychiatry 1978; 41: 458–62. 21 Nakamura N, Fujiya S, Yahara O, Fujioka Y, Kawakami Y. Stiff-man syndrome with spinal cord lesion. Clin Neuropathol 1986; 5: 40–6. 22 Olafson RA, Mulder DW, Howard FM Jr. "Stiff-man" syndrome; a review of the literature, report of three additional cases and discussion of the pathophysiology and therapy. Mayo Clin Proc 1964; 39: 131–44. 23 Soykan I, McCallum RW. Gastrointestinal involvement in neurologic disorders: "stiff-man" and Charcot-Marie-Tooth syndromes. Am J Med Sci 1997; 313: 70–3. 24 Bhutani MS. Dysphagia in stiff-man syndrome. Am J Gastroenterol 1991; 86: 1857–8. 25 Kash SF, Johnson RS, Tecott LH, Neobels JL, Mayfield RD, Hunahan D, et al. Epilepsy in mice deficient in the 65-KDa isoform of glutamic acid decarboxylase. Proc Natl Acad Sci U S A 1997; 94: 14060–5. 26 Nicholas AP, Chatterjee A, Arnold MM, Claussen GC, Zorn GL, Oh SJ. Stiff-person's syndrome associated with thymoma and subsequent myasthenia gravis. Muscle Nerve 1997; 20: 493–8. 27 Piccolo G, Martino G, Moglia A, Arrigo A, Cosi V. Autoimmune myasthenia gravis with thymoma following the spontaneous remission of stiff-man syndrome. Ital J Neurol Sci 1990; 11: 177–80. 28 Aso Y, Sato A, Narimatsu M, Takiguchi Y, Yanaguchi Y, Inukai T. Stiff-man syndrome associated with antecedent myasthenia gravis and organ-specific autoimmunity. Intern Med 1997; 36: 308–11. 29 Martin R, Meinck HM, Schulte-Mattler W, Ricker K, Mertens HG. Borrelia burgdorferi myelitis presenting as a partial stiff-man syndrome. J Neurol 1990; 237: 51–4. 30 Reguena I, Arias M, Pardo J, Portela M, Alvarez JA. Syndromes of continuous muscular activity: report of a central case (stiff-man) and a peripheral case (neuromyotonia) associated with neuroborreliosis. Rev Neurol 1995; 23: 129–33. 31 Armon C, McEvoy KM, Westmoreland BF, McManis PG. Clinical neurophysiologic studies in stiff-man syndrome: use of simultaneous videoelectroencephalographic-surface electromyographic recording. Mayo Clin Proc 1990; 65: 960–7. 32 Meinck HM, Ricker K, Hulser P-J, Schmid E, Pfeiffer J, Solimena M. Stiff-man syndrome: neurophysiological findings in eight patients. J Neurol 1995; 242: 134–42. 33 Matsumoto JY, Caviness JN, McEvoy KM. The acoustic startle reflex in stiff-man syndrome. Neurology 1994; 44: 1952–5. 34 Meinck HM, Conrad B. Neuropharmacological investigations in the stiff-man syndrome. J Neurol 1986; 233: 340–7. 35 Schmierer K, Valdueza JM, Bender A, DeCamilli P, David C, Solimena M, et al. Atypical stiff-person syndrome with spinal MRI findings, amphiphysin autoantibodies and immunosuppression. Neurology 1998; 51: 250–2. 36 Kasperek S, Zebrowski S. Stiff-man syndrome and encephalomyelitis: report of a case. Arch Neurol 1971; 24: 22–30. 37 Lhermitte F, Chain F, Escourolle R, Chedru F, Guilleminault C, Francoual M. Un nouveau cas de contracture tetaniforme distinct du "stiff-man syndrome". Rev Neurol (Paris) 1973; 128: 3–21. 38 Bateman DE, Weller RO, Kennedy P. Stiff-man syndrome: a rare paraneoplastic disorder? J Neurol Neurosurg Psychiatry 1990; 53: 695–6. 39 Roobol TH, Kazzaz BA, Vecht CJ. Segmental rigidity and spinal myoclonus as a paraneoplastic syndrome. J Neurol Neurosurg Psychiatry 1987; 50: 628–31. 40 Masson C, Prier S, Benoit C, Henin D, Masson M, Cambier J. Amnesie, syndrome de l'homme raide. Ann Med Interne (Paris) 1987; 138: 502–5. 41 Pugliese A, Solimeno M, Awdeh ZL, Alper CA, Gugawan T, Erlich HA, et al. Association of HLA-DQB1*0201 with stiff-man syndrome. J Clin Endocrinol Metab 1993; 77: 1550–3. 42 Pugliese A, Gianani R, Eisenbarth GS, DeCamilli P, Solimeno M. Genetics of susceptibility and resistance to insulin-dependent diabetes in stiff-man syndrome. Lancet 1994; 334: 1027–8. 43 Gianani R, Pugliese A, Bonne-Weir S, Shiffrin AJ, Soeldner JS, Erlich H, et al. Prognostically significant heterogeneity of cytoplasmic islet cell antibodies in relatives of patients with type I diabetes. Diabetes 1992; 41: 347–53. 44 McEvoy KM. Stiff-man syndrome. Mayo Clin Proc 1990; 66: 300–4. 45 Bosi E, Vicari A, Comi G, Comola M, Canal N, Pozza G. Association of stiff-man syndrome and type I diabetes with islet cell and other autoantibodies. Arch Neurol 1988; 45: 246–7. 46 Oertel WH, Schmechel DE, Mugnaini E, Tappaz ML, Kopin IJ. Immunocytochemical localization of glutamate decarboxylase in cat cerebellum with a new antiserum. Neuroscience 1981; 6: 2715–45. 47 Mugnaini E, Oertel WH. An atlas of the distribution of GABAergic neurons and terminals in the rat central nervous system as revealed by GAD immunohistochemistry. In: A Björkland, T Hökfelt, editors. Handbook of chemical neuroanatomy. Vol. 4. GABA and neuropeptides in the central nervous system. Part I. Amsterdam: Elsevier; 1984. p. 436–608. 48 Vincent SR, Hökfelt T, Wu J-Y, Elde RP, Morgan LM, Kimmel JR. Immunohistochemical studies of the GABA system in the pancreas. Neuroendocrinology 1983; 367: 197–204. 49 Grimaldi LME, Martino G, Braghi S, Quattrini A, Furlan R, Bosi E, et al. Heterogeneity of autoantibodies in stiff-man syndrome. Ann Neurol 1993; 34: 57–64. 50 Harrison LC, Honeyman MC, DeAizpurun HJ, Schmidli RS, Colman PG, Tait BD, et al. Inverse relation between humeral and cellular immunity to glutamic acid decarboxylase in subjects at risk of insulin-dependent diabetes. Lancet 1993; 341: 1365–9. 51 Folli F, Solimena M, Cofiell R, Austoni M, Tallini G, Fassetta G, et al. Autoantibodies to a 128-kd synaptic protein in three women with stiff-man syndrome and breast cancer. N Engl J Med 1993; 328: 546–51. 52 DeCamilli P, Thomas A, Cofiell R, Folli F, Lichte B, Picolo G, et al. The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of stiff-man syndrome with breast cancer. J Exp Med 1993; 178: 2219–23. 53 Dropcho EJ. Antiamphiphysin antibodies with small-cell lung carcinoma and paraneoplastic encephalomyelitis. Ann Neurol 1996; 39: 659–67. 54 Ellis TM, Atkinson MA. The clinical significance of an autoimmune response against glutamic and decarboxylase. Nat Med 1996; 2: 148–53. 55 Tuomilehto J, Zimmet P, Mackay IR, Koskela P, Vidgren G, Toivanen L, et al. Antibodies to glutamic acid decarboxylase as predictors of insulin-dependent diabetes mellitus before clinical onset of disease. Lancet 1994; 343: 1383–5. 56 Atkinson MA, Kaufman DL, Campbell L, Gibbs KA, Shah SC, Bu DF, et al. Response of peripheral blood mononuclear cells to glutamate decarboxylase in insulin-dependent diabetes. Lancet 1992; 339: 458–9. 57 Castano L, Eisenbarth GS. Type-I diabetes: a chronic autoimmune disease of human, mouse and rat. Annu Rev Immunol 1990; 8: 647–79. 58 Kaufman DL, Clare-Salzler M, Tian J, Forsthuber T, Ting GSP, Robinson P, et al. Spontaneous loss of T-cell tolerance to glutamic acid decarboxylase in murine insulin-dependent diabetes. J Immunol 1993; 336: 69–72. 59 Tisch R, Yang XD, Singer SM, Liblau RS, Fugger L, McDevitt HO. Immune response to glutamic acid decarboxylase correlates with insulitis in non-obese diabetic mice. Nature 1993; 366: 72–5. 60 Baekkleskov S, Nielsen JH, Marner B, Bilde T, Wduigsson J, Lernmark A. Autoantibodies in newly diagnosed diabetic children immunoprecipitate human pancreatic islet cell proteins. Nature 1982; 298: 167–9. 61 Atkinson MA, Maclaren NK, Scharp DW, Lacy PE, Riley WJ. 64,000 MW autoantibodies are predictive of insulin dependent diabetes. Lancet 1990; 335: 1357–60. 62 Kaufman DL, Erlander MG, Clare-Salzler M, Atkinson MA, MacLaren NK, Tobin AJ. Autoimmunity to two forms of glutamate decarboxylase in insulin-dependent diabetes mellitus. J Clin Invest 1992; 89: 283–92. 63 Tian J, Lehmann PV, Kaufman DL. T cell cross-reactivity between coxsackie virus and glutamate decarboxylase is associated with a murine diabetes susceptibility allele. J Exp Med 1994; 180: 1979–84. 64 Jones DB, Armstrong NW. Coxsackie virus and diabetes revisited. Nat Med 1995; 1: 284. 65 Schmidli RS, Colman PG, Cui L, Yu WP, Kewming K, Jankulovski C, et al. Antibodies to the protein tyrosine phosphatases IAR and IA-2 are associated with progression to insulin-dependent diabetes (IDDM) in first-degree relatives at-risk for IDDM. Autoimmunity 1998; 28: 15–23. 66 Lan MS, Wasserfall C, Maclaren NK, Notkins AL. IA-2, a transmembrane protein of the protein tyrosine phosphatase family, is a major autoantigen in insulin-dependent diabetes mellitus. Proc Natl Acad Sci U S A 1996; 93: 6367–70. 67 Ujihara N, Daw K, Gianani R, Boel E, Yu L, Powers AC. Identification of glutamic acid decarboxylase autoantibody heterogeneity and epitope regions in type I diabetes. Diabetes 1994; 43: 968–75. 68 Morganthaler NG, Seissler J, Achenbach P, Glawe D, Payton M, Meinck HM, et al. 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 1997; 25: 203–11. 69 Kim J, Namchuk M, Bugawan T, Fu Q, Jaffe M, Shi Y, et al. Higher autoantibody levels and recognition of a linear NH2-terminal epitope in the autoantigen GAD65, distinguish stiff-man syndrome from insulin-dependent diabetes mellitus. J Exp Med 1994; 180: 595–606. 70 Daw K, Ujihara N, Atkinson M, Powers AC. Glutamic acid decarboxylase autoantibodies in stiff-man syndrome and insulin-dependent diabetes mellitus exhibit similarities and differences in epitope recognition. J Immunol 1996; 156: 818–25. 71 Butler MH, Solimena M, Dirkx R, Hayday A, DeCamilli P. Identification of a dominant epitope of glutamic acid decarboxylase (GAD-65) recognized by autoantibodies in stiff-man syndrome. J Exp Med 1993; 178: 2097–106. 72 Lehman PV, Forsthuber T, Miller A, Sercarz EE. Spreading of T-cell autoimmunity to cryptic determinants of an autoantigen. Nature 1992; 358: 155–7. 73 Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene to chromosome 5q by linkage analysis. Ann Neurol 1992; 31: 663–8. 74 Meinck HM, Ricker K, Hulser PJ, Schmid E, Pfeiffer J, Solimena M. Stiffman syndrome: clinical and laboratory findings in eight patients. J Neurol 1994; 241: 157–66. 75 Sagasta A, Casamitjana R, Zarranz JJ, Tolosa E, Gravs F. Autoantibodies to glutamic acid decarboxylase in three patients with cerebellar ataxis, late-onset insulin-dependent diabetes mellitus and polyendocrine autoimmunity. Neurology 1997; 49: 1026–30. 76 Silbert PL, Matsumoto JY, McManis PG, Stolp-Smith KA, Elliott BA, McEvoy KM. Intrathecal baclofen therapy in stiff-man syndrome: a double-blind, placebo-controlled trial. Neurology 1995; 45: 1893–7. 77 Stayer C, Tronnier V, Dressnandt J, Mauch E, Marguardt G, Rieke K, et al. Intrathecal baclofen therapy for stiff-man syndrome and progressive encephalomyelopathy with rigidity and myoclonus. Neurology 1997; 49: 1591–7. 78 Penn RD, Margieri EA. Stiff-man syndrome treated with intrathecal baclofen [letter]. Neurology 1993; 43: 2412. 79 Seitz RJ, Blank B, Kiwit JC, Benecke R. Stiff-person syndrome with anti-glutamic acid decarboxylase autoantibodies: complete remission of symptoms after intrathecal baclofen administration. J Neurol 1995; 242: 618–22. 80 Spehlmann R, Norcross K, Rusmus SC, Schlapeter NL. Improvement of stiff-man syndrome with sodium valproate. Neurology 1981; 31: 1162–3. 81 Prevett MC, Brown P, Duncan JS. Improvement of stiff-man syndrome with vigabatrin. Neurology 1997; 48: 1133–4. 82 Voci JM, al-Hakim M, Dokko Y, Katirji MB. Intravenous methocarbamol in the treatment of stiff-man syndrome. Muscle Nerve 1993; 16: 434–5. 83 Davis D, Jabbari B. Significant improvement of stiff-person syndrome after paraspinal injection of botulinum toxin A. Mov Disord 1993; 371–3. 84 Liguori R, Cordivari C, Lugaresi E, Montagna P. Botulinum toxin A improves muscle spasms and rigidity in stiff-person syndrome. Mov Disord 1997; 12: 1060–3. 85 Piccolo G, Cosi V, Zandrini C, Moglia A. Steroid-responsive and dependent stiff-man syndrome: a chemical and electrophysiological study of two cases. Ital J Neurol Sci 1988; 9: 559–66. 86 Vicari AM, Folli F, Pozza G, Cowi GC, Comola M, Canal N, et al. Plasmapheresis in the treatment of stiff-man syndrome [letter]. N Engl J Med 1989; 320: 1499. 87 Brashear HR, Phillips LH II. Autoantibodies to GABAergic neurons and response to plasmapheresis in stiff-man syndrome. Neurology 1991; 41: 1588–92. 88 Karlson EW, Sudarsky L, Ruderman E, Pierson S, Scott M, Helfgott SM. Treatment of stiff-man syndrome with intravenous immune globulin. Arthritis Rheum 1994; 37: 915–8. 89 Amato AA, Cornman EW, Kissel JT. Treatment of stiff-man syndrome with intravenous immunoglobulin. Neurology 1994; 44: 1652–4. 90 Baker RA, Marsden CD. Successful treatment of stiff-man syndrome with intravenous immunoglobulin. J Neurol Neurosurg Psychiatry 1997; 62: 426–7. 91 Ma S-W, Zhao D-L, Yin Z-Q, Mukherjee R, Singh B, Qin H-Y, et al. Transgenic plants expressing autoantigens fed to mice to induce oral immune tolerance. Nat Med 1997; 3: 793–6. Citing Literature Volume42, Issue7July 1999Pages 1312-1320 ReferencesRelatedInformation

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