Advances in the pathogenesis and treatment of patients with stiff person syndrome

Current Neurology and Neuroscience Reports

Volumn 8, Issue 1, 2008, Pages 48-55

  Dalakas, Marinos C ^a,b  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; 4 AMINOBUTYRIC ACID RECEPTOR ASSOCIATED PROTEIN; 4 AMINOBUTYRIC ACID RECEPTOR STIMULATING AGENT; ALPRAZOLAM; ANTICONVULSIVE AGENT; ANXIOLYTIC AGENT; AUTOANTIGEN; AZATHIOPRINE; BACLOFEN; BENZODIAZEPINE DERIVATIVE; BOTULINUM TOXIN A; CLONAZEPAM; CORTICOSTEROID; DANTROLENE; DIAZEPAM; ETIRACETAM; GABAPENTIN; GLUTAMATE DECARBOXYLASE ANTIBODY; IMMUNOSUPPRESSIVE AGENT; LORAZEPAM; METHOTREXATE; PLACEBO; RITUXIMAB; SEDATIVE AGENT; SPASMOLYTIC AGENT; TETRAZEPAM; TIAGABINE; UNCLASSIFIED DRUG; UNINDEXED DRUG; VALPROIC ACID; VIGABATRIN;

ANESTHESIA INDUCTION; CLINICAL FEATURE; CLINICAL TRIAL; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE MARKER; DISEASE SEVERITY; DRUG DOSE ESCALATION; DRUG MECHANISM; GABAERGIC SYSTEM; HUMAN; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PLASMAPHERESIS; PROGNOSIS; PROTEIN TARGETING; REVIEW; RISK FACTOR; STIFF MAN SYNDROME; SYMPTOMATOLOGY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AUTOANTIBODIES; AUTOANTIGENS; CENTRAL NERVOUS SYSTEM; GAMMA-AMINOBUTYRIC ACID; GLUTAMATE DECARBOXYLASE; HUMANS; IMMUNOTHERAPY; MICROTUBULE-ASSOCIATED PROTEINS; PARASYMPATHOLYTICS; SPASM; STIFF-PERSON SYNDROME;

EID: 38649133579     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-008-0009-y     Document Type: Review

References (48)

1. Dalakas MC, Fujii M, Li M, McElroy B: The clinical spectrum of anti-GAD antibody-positive patients with stiff-person syndrome. Neurology 2000, 55:1531-1535.
2. Levey LM, Dalakas MC, Floeter MK: The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of gamma-aminobutyric acid. Ann Intern Med 1999, 131:522-530.
3. Spay AJ, Chen R: Rigidity and spasms from autoimmune encephalomyelopathies: stiff-person syndrome. Muscle Nerve 2006, 34:677-690.
4. Dalakas MC, Li M, Fujii M, Jacobowitz DM: Stiff-person syndrome: quantification, specificity and intrathecal synthesis of GAD65 antibodies. Neurology 2001, 57:780-785.
5. Ameli R, Snow J, Rakocevic G, Dalakas MC: A neuro-psychological assessment of phobias in patients with stiff person syndrome. Neurology 2005, 64:1961-1963.
6. Vasconcelos OM, Dalakas MC: Therapies for stiff person syndrome. Curr Treat Options Neurol 2003, 5:79-90.
7. Barker RA, 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.
8. Meinck HM, Ricker K, Hulser PJ, Solimena M: Stiff man syndrome: neurophysiological findings in eight patients. J Neurol 1995, 242:134-142.
9. Murinson BB, Butler M, Marfurt K, et al.: Markedly elevated GAD antibodies in SPS: effects of age and illness duration. Neurology 2004, 63:2146-2148.
10. 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.
11. Rakocevic G, Raju R, Semino-Mora C, Dalakas MC: Stiff person syndrome with cerebellar disease and high-titer anti-GAD antibodies. Neurology 2006, 67:1068-1070.
12. Economides JR, Horton JC: Eye movement abnormalities in stiff person syndrome. Neurology 2005, 65:1462-1464.
13. Zivotofsky AZ, Siman-Tov T, Gadoth N, Gordon CR: A rare saccade velocity profile in stiff-person syndrome with cerebellar degeneration. Brain Res 2006, 1093:135-140.
14. Whiteley AM, Swash M, Urich H: Progressive encephalomyelitis with rigidity. Brain 1976, 99:27-42.
15. De Camilli P, Thomas A, Cofiell R, et al.: The synaptic vesicle-associated protein amphiphysin is the 128-kD autoantigen of stiff-man syndrome with breast cancer. J Exp Med 1993, 178:2219-2223.
16. Butler MH, Hayashi A, Ohkoshi N, et al.: Autoimmunity to gephyrin in stiff-man syndrome. Neuron 2000, 26:307-312.
17. Ishida K, Mitoma H, Song SY, et al.: Selective suppression of cerebellar GABAergic transmission by an autoantibody to glutamic acid decarboxylase. Ann Neurol 1999, 46:263-267.
18. Sandbrink F, Syed NA, Fujii MD, et al.: Motor cortex excitability in stiff-person syndrome. Brain 2000, 123(Pt 11):2231-2239.
19. Levy LM, Levy-Reis I, Fujii M, Dalakas MC: Brain gamma-aminobutyric acid changes in stiff-person syndrome. Arch Neurol 2005, 62:970-974.
20. Ellis MT, Atkinson AM: The clinical significance of an autoimmune response against glutamic acid decarboxylase. Nat Med 1996, 2:148-153.
21. 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, 156:818-825.
22. Dalakas MC: The role of IVIg in the treatment of patients with stiff person syndrome and other neurological diseases associated with anti-GAD antibodies. J Neurol 2005, 252 (Suppl 1):I19-125.
23. Peltola J, Kulmala P, Isojarvi J, et al.: Autoantibodies to glutamic acid decarboxylase in patients with therapy-resistant epilepsy. Neurology 2000, 55:46-50.
24. Honnorat J, Saiz A, Giometto B, et al.: Cerebellar ataxia with anti-glutamic acid decarboxylase antibodies: study of 14 patients. Arch Neurol 2001, 58:225-230.
25. Vulliemoz S, Vanini G, Truffert A, et al.: Epilepsy and cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies. J Neurol Neurosurg Psychiatry 2007, 78:187-189.
26. Antozzi C, Frassoni C, Vincent A, et al.: Sequential antibodies to potassium channels and glutamic acid decarboxylase in neuromyotonia. Neurology 2005, 64:1290-1293.
27. Vernino S, Lennon VA: Autoantibody profiles and neurological correlations of thymoma. Clin Cancer Res 2004, 10:7270-7275.
28. Pearce DA, Atkinson M, Tagle DA: Glutamic acid decarboxylase autoimmunity in Batten disease and other disorders. Neurology 2004, 63:2001-2005.
29. Dinkel K, Meinck HM, Jury KM, et al.: Inhibition of gamma-aminobutyric acid synthesis by glutamic acid decarboxylase autoantibodies in stiff-man syndrome. Ann Neurol 1998, 44:194-201.
30. Raju R, Foote J, Banga JP, et al.: Analysis of GAD65 auto-antibodies in stiff-person syndrome patients. J Immunol 2005, 175:7755-7762.
31. Rakocevic G, Raju R, Dalakas MC: Anti-glutamic acid decarboxylase antibodies in the serum and cerebrospinal fluid of patients with stiff-person syndrome: correlation with clinical severity. Arch Neurol 2004, 61:902-904.
32. Burns TM: Carpal tunnel sonography by the rheumatologist versus nerve conduction study by the neurologist. J Rheumatol 2001, 28:62-69.
33. Perani D, Garibotto V, Moresco RM, et al.: PET evidence of central GABAergic changes in stiff-person syndrome. Mov Disord 2007, 22:1030-1033.
34. Raju R, Rakocevic G, Chen Z, et al.: Autoimmunity to GABAA-receptor-associated protein in stiff-person syndrome. Brain 2006, 129(Pt 12):3270-3276.
35. Leil TA, Chen ZW, Chang CS, Olsen RW: GABAA receptor-associated protein traffics GABAA receptors to the plasma membrane in neurons. J Neurosci 2004, 24:11429-11438.
36. Coyle JE, Nikolov DB: GABARAP: lessons for synaptogenesis. Neuroscientist 2003, 9:205-216.
37. Murinson BB, Vincent A: Stiff-person syndrome: autoimmunity and the central nervous system. CNS Spectrum 2001, 6:427-433.
38. Howard FM Jr: A new and effective drug in the treatment of stiff-man syndrome: preliminary report. Proc Mayo Clin 1963, 38:203-212.
39. Sharoqi IA: Improvement of stiff-man syndrome with vigabatrin. Neurology 1998, 50:833-834.
40. Murinson BB, Rizzo M: Improvement of stiff-person syndrome with tiagabine. Neurology 2001, 57:366.
41. Ruegg SJ, Steck AJ, Fuhr P: Levetiracetam improves paroxysmal symptoms in a patient with stiff-person syndrome. Neurology 2004, 62:338.
42. Silbert PL, Matsumoto JY, McManis PG, et al.: Intrathecal baclofen therapy in stiff-man syndrome: a double-blind, placebo-controlled trial. Neurology 1995, 45:1893-1897.
43. Liguori R, Cordivari C, Lugaresi E, et al.: Botulinum toxin A improves muscle spasms and rigidity in stiff-person syndrome. Mov Disord 1997, 12:1060-1063.
44. Dalakas MC, Fujii M, Li M, et al.: High-dose intravenous immunoglobulin for stiff-person Syndrome. N Engl J Med 2001, 345:1870-1876.
45. Baker MR, Das M, Isaacs J, et al.: Treatment of stiff person syndrome with rituximab. J Neurol Neurosurg Psychiatry 2005, 76:999-1001.
46. Bouw J, Leendertse K, Tijssen MA, Dzoljic M: Stiff person syndrome and anesthesia: case report. Anesth Analg 2003, 97:486-487.
47. Ledowski T, Bromilow J, Paech MJ, et al.: Skin conductance monitoring compared with Bispectral Index to assess emergence from total i.v. anaesthesia using propofol and remifentanil. Br J Anaesth 2006, 97:817-821.
48. Elkassabany N, Tetzlaff JE, Argalious M: Anesthetic management of a patient with stiff person syndrome. J Clin Anesth 2006, 18:218-220.