View More View Less
  • 1 Batthyány Kázmér Szakkórház Kisbér Iskola u. 11. 2870
  • 2 Országos Reumatológiai és Fizioterápiás Intézet Budapest
  • 3 Semmelweis Egyetem, Általános Orvostudományi Kar I. Belgyógyászati Klinika Budapest
Open access

A stiff-person-szindróma ritka, progresszív, immunpatológiai eltéréseken alapuló, neuromuscularis megbetegedés, amely fájdalmas myoclonusokkal és elsősorban a törzs, illetve a törzs közeli izmok rigiditásával jár. A pontos patomechanizmus még tisztázatlan, de kimutattak a gamma-amino-vajsavhoz kapcsolt gátló szinapszisban szerepet játszó különböző fehérjék ellen termelődő antitesteket. A szerzők a dolgozat első részében az általuk kezelt két beteg esetét ismertetik, majd a stiff-person-szindrómáról, e nagyon ritka betegségről nyújtanak átfogó és aktuális ismereteket. Orv. Hetil., 2013, 154(50), 1984–1990.

If the inline PDF is not rendering correctly, you can download the PDF file here.

  • Pálfi, P., Demeter, J., Poór, Gy., et al.: Stiff person syndrome – a case study. [Stiff-person-szindróma bemutatása egy betegünk kapcsán.] Magyar Reum., 2013, 54, 100–102. [Hungarian]

    Poór Gy. , 'Stiff person syndrome – a case study. [Stiff-person-szindróma bemutatása egy betegünk kapcsán.] ' (2013 ) 54 Magyar Reum. : 100 -102.

    • Search Google Scholar
  • Moersch, F. P., Woltman, H. W.: Progressive fluctuating muscular rigidity and spasm (“stiff-man” syndrome); report of a case and some observations in 13 other cases. Proc. Staff Meet. Mayo Clin., 1956, 31, 421–427.

    Woltman H. W. , 'Progressive fluctuating muscular rigidity and spasm (“stiff-man” syndrome); report of a case and some observations in 13 other cases ' (1956 ) 31 Proc. Staff Meet. Mayo Clin. : 421 -427.

    • Search Google Scholar
  • Hadavi, S., Noyce, A. J., Leslie, R. D., et al.: Stiff person syndrome. Pract. Neurol., 2011, 11, 272–282.

    Leslie R. D. , 'Stiff person syndrome ' (2011 ) 11 Pract. Neurol. : 272 -282.

  • Bekény, G., Szirtes, G.: “Stiff man” syndrome. [Stiff man szindróma.] Orv. Hetil., 1974, 115, 2795–2799. [Hungarian]

    Szirtes G. , '“Stiff man” syndrome. [Stiff man szindróma.] ' (1974 ) 115 Orv. Hetil. : 2795 -2799.

    • Search Google Scholar
  • Kómár, J., Szegvári, M., Varga, D., et al.: Stiff man syndrome. [Stiff man szindróma.] Orv. Hetil., 1980, 121, 2587–2590. [Hungarian]

    Varga D. , 'Stiff man syndrome. [Stiff man szindróma.] ' (1980 ) 121 Orv. Hetil. : 2587 -2590.

    • Search Google Scholar
  • Lengyel, A., Lakos, G., Sipka, S., et al.: Stiff-person syndrome – two Hungarian cases and review of the literature. [Stiff-person szindróma. Két magyar eset bemutatása a szakirodalom áttekintésével.] Ideggyógy. Szle, 2005, 58, 263–267. [Hungarian]

    Sipka S. , 'Stiff-person syndrome – two Hungarian cases and review of the literature. [Stiff-person szindróma. Két magyar eset bemutatása a szakirodalom áttekintésével.] ' (2005 ) 58 Ideggyógy. Szle : 263 -267.

    • Search Google Scholar
  • Fernandes, M., Munhoz, R. P., Carrilho, P. E., et al.: Neurological disorders associated with glutamic acid decarboxylase antibodies: a Brazilian series. Arq. Neuropsiquiatr., 2012, 70, 657–661.

    Carrilho P. E. , 'Neurological disorders associated with glutamic acid decarboxylase antibodies: a Brazilian series ' (2012 ) 70 Arq. Neuropsiquiatr. : 657 -661.

    • Search Google Scholar
  • Seissler, J., Bieg, S., Yassin, N., et al.: Association between antibodies to the MR 67,000 isoform of glutamate decarboxylase (GAD) and type 1 (insulin-dependent) diabetes mellitus with coexisting autoimmune polyendocrine syndrome type II. Autoimmunity, 1994, 19, 231–238.

    Yassin N. , 'Association between antibodies to the MR 67,000 isoform of glutamate decarboxylase (GAD) and type 1 (insulin-dependent) diabetes mellitus with coexisting autoimmune polyendocrine syndrome type II ' (1994 ) 19 Autoimmunity : 231 -238.

    • Search Google Scholar
  • Lancaster, E., Lai, M., Peng, X., et al.: Antibodies to the GABA(B) receptor in limbic encephalitis with seizures: case series and characterisation of the antigen. Lancet Neurol., 2010, 9, 67–76.

    Peng X. , 'Antibodies to the GABA(B) receptor in limbic encephalitis with seizures: case series and characterisation of the antigen ' (2010 ) 9 Lancet Neurol. : 67 -76.

    • Search Google Scholar
  • Saiz, A., Blanco, Y., Sabater, L., et al.: Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association. Brain, 2008, 131, 2553–2563.

    Sabater L. , 'Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association ' (2008 ) 131 Brain : 2553 -2563.

    • Search Google Scholar
  • Oswald, M. J., Kay, G. W., Palmer, D. N.: Changes in GABAergic neuron distribution in situ and in neuron cultures in ovine (OCL6) Batten disease. Eur. J. Paediatr. Neurol., 2001, 5 (Suppl. A), 135–142.

    Palmer D. N. , 'Changes in GABAergic neuron distribution in situ and in neuron cultures in ovine (OCL6) Batten disease ' (2001 ) 5 Eur. J. Paediatr. Neurol. : 135 -142.

    • Search Google Scholar
  • Krishna, V. R., Knievel, K., Ladha, S., et al.: Lower extremity predominant stiff-person syndrome and limbic encephalitis with amphiphysin antibodies in breast cancer. J. Clin. Neuromuscul. Dis., 2012, 14, 72–74.

    Ladha S. , 'Lower extremity predominant stiff-person syndrome and limbic encephalitis with amphiphysin antibodies in breast cancer ' (2012 ) 14 J. Clin. Neuromuscul. Dis. : 72 -74.

    • Search Google Scholar
  • Butler, M. H., Hayashi, A., Ohkoshi, N., et al.: Autoimmunity to gephyrin in Stiff-Man syndrome. Neuron, 2000, 26, 307–312.

    Ohkoshi N. , 'Autoimmunity to gephyrin in Stiff-Man syndrome ' (2000 ) 26 Neuron : 307 -312.

  • Alexopoulos, H., Dalakas, M. C.: A critical update on the immunopathogenesis of stiff person syndrome. Eur. J. Clin. Invest., 2010, 40, 1018–1025.

    Dalakas M. C. , 'A critical update on the immunopathogenesis of stiff person syndrome ' (2010 ) 40 Eur. J. Clin. Invest. : 1018 -1025.

    • Search Google Scholar
  • Meinck, H. M.: Stiff man syndrome. CNS Drugs, 2001, 15, 515–526.

    Meinck H. M. , 'Stiff man syndrome ' (2001 ) 15 CNS Drugs : 515 -526.

  • Gordon, E. E., Januszko, D. M., Kaufman, L.: A critical survey of stiff-man syndrome. Am. J. Med., 1967, 42, 582–599.

    Kaufman L. , 'A critical survey of stiff-man syndrome ' (1967 ) 42 Am. J. Med. : 582 -599.

  • Dalakas, M. C., Fujii, M., Li, M., et al.: The clinical spectrum of anti-GAD antibody-positive patients with stiff-person syndrome. Neurology, 2000, 55, 1531–1535.

    Li M. , 'The clinical spectrum of anti-GAD antibody-positive patients with stiff-person syndrome ' (2000 ) 55 Neurology : 1531 -1535.

    • Search Google Scholar
  • Brown, P., Marsden, C. D.: The stiff man and stiff man plus syndromes. J. Neurol., 1999, 246, 648–652.

    Marsden C. D. , 'The stiff man and stiff man plus syndromes ' (1999 ) 246 J. Neurol. : 648 -652.

    • Search Google Scholar
  • Barker, R. A., Revesz, T., Thom, M., et al.: 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, 1998, 65, 633–640.

    Thom M. , '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 ' (1998 ) 65 J. Neurol. Neurosurg. Psychiatry : 633 -640.

    • Search Google Scholar
  • Solimena, M., Folli, F., Aparisi, R., et al.: Autoantibodies to GABA-ergic neurons and pancreatic beta cells in stiff-man syndrome. N. Engl. J. Med., 1990, 322, 1555–1560.

    Aparisi R. , 'Autoantibodies to GABA-ergic neurons and pancreatic beta cells in stiff-man syndrome ' (1990 ) 322 N. Engl. J. Med. : 1555 -1560.

    • Search Google Scholar
  • Ishizava, K., Komori, T., Okayama, K.: Large motor neuron involvement in stiff-man syndrome: a qualitative and quantitative study. Acta Neuropathol., 1999, 97, 63–70.

    Okayama K. , 'Large motor neuron involvement in stiff-man syndrome: a qualitative and quantitative study ' (1999 ) 97 Acta Neuropathol. : 63 -70.

    • Search Google Scholar
  • Howard, F. M. Jr.: A new and effective drug in the treatment of the stiff-man syndrome: preliminary riport. Proc. Staff Meet Mayo Clin., 1963, 38, 203–212.

    Howard F. M. , 'A new and effective drug in the treatment of the stiff-man syndrome: preliminary riport ' (1963 ) 38 Proc. Staff Meet Mayo Clin. : 203 -212.

    • Search Google Scholar
  • Silbert, P. L., Matsumoto, J. Y., Mcmanis, P. G., et al.: Intrathecal baclofen therapy in stiff-man syndrome: a double-blind, placebo-controlled trial. Neurology, 1995, 45, 1893–1897.

    Mcmanis P. G. , 'Intrathecal baclofen therapy in stiff-man syndrome: a double-blind, placebo-controlled trial ' (1995 ) 45 Neurology : 1893 -1897.

    • Search Google Scholar
  • Bardutzky, J., Tronnier, V., Schwab, S.: Intrathecal baclofen for stiff-person syndrome: life threatening intermittent catheter leakage. Neurology, 2003, 60, 1976–1978.

    Schwab S. , 'Intrathecal baclofen for stiff-person syndrome: life threatening intermittent catheter leakage ' (2003 ) 60 Neurology : 1976 -1978.

    • Search Google Scholar
  • Sechi, G. P., Barrocu, M., Piluzza, M. G.: Levetiracetam in stiff-person syndrome. J. Neurol., 2008, 255, 1721–1725.

    Piluzza M. G. , 'Levetiracetam in stiff-person syndrome ' (2008 ) 255 J. Neurol. : 1721 -1725.

    • Search Google Scholar
  • Vernino, S., McEvoy, K.: Propofol for stiff-person syndrome: learning new tricks from an old dog. Neurology, 2008, 70, 1584–1585.

    McEvoy K. , 'Propofol for stiff-person syndrome: learning new tricks from an old dog ' (2008 ) 70 Neurology : 1584 -1585.

    • Search Google Scholar
  • Davis, D., Jabbari, B.: Significant improvement of stiff-person syndrome after paraspinal injection of botulinum toxin A. Mov. Disord., 1993, 8, 371–373.

    Jabbari B. , 'Significant improvement of stiff-person syndrome after paraspinal injection of botulinum toxin A ' (1993 ) 8 Mov. Disord. : 371 -373.

    • Search Google Scholar
  • Dalakas, M. C., Fujii, M., Li, M.: High-dose intravenous immune globulin for stiff-person syndrome. N. Engl. J. Med., 2001, 345, 1870–1876.

    Li M. , 'High-dose intravenous immune globulin for stiff-person syndrome ' (2001 ) 345 N. Engl. J. Med. : 1870 -1876.

    • Search Google Scholar
  • Elovaara, I., Apostolski, S., van Doorn, P., et al.: EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases: EFNS task force on the use of intravenous immunoglobulin in treatment of neurological diseases. Eur. J. Neurol., 2008, 15, 893–908.

    Doorn P. , 'EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases: EFNS task force on the use of intravenous immunoglobulin in treatment of neurological diseases ' (2008 ) 15 Eur. J. Neurol. : 893 -908.

    • Search Google Scholar
  • Baker, M. R., Das, M., Isaacs, J., et al.: Treatment of stiff person syndrome with rituximab. J. Neurol. Neurosurg. Psychiatry, 2005, 76, 999–1001.

    Isaacs J. , 'Treatment of stiff person syndrome with rituximab ' (2005 ) 76 J. Neurol. Neurosurg. Psychiatry : 999 -1001.

    • Search Google Scholar
  • Sevy, A., Franques, J., Chiche, L., et al.: Successful treatment with rituximab in a refractory Stiff-person syndrome. Rev. Neurol. (Paris), 2012, 168, 375–378.

    Chiche L. , 'Successful treatment with rituximab in a refractory Stiff-person syndrome ' (2012 ) 168 Rev. Neurol. (Paris) : 375 -378.

    • Search Google Scholar
  • Mitsumoto, H., Schwartzman, M. J., Estes, M. L.: Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome. J. Neurol., 1991, 238, 91–96.

    Estes M. L. , 'Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome ' (1991 ) 238 J. Neurol. : 91 -96.

    • Search Google Scholar