REFERENCES
1. Katsavos S, Anagnostouli M. Biomarkers in multiple sclerosis: an up-to-date overview. Mult Scler Int 2013;2013:340508.
2. Ramagopalan SV, Maugeri NJ, Handunnetthi L, Lincoln MR, Orton SM, Dyment DA, Deluca GC, Herrera BM, Chao MJ, Sadovnick AD, Ebers GC, Knight JC. Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB1*1501 is regulated by vitamin D. PLoS Genet 2009;5:e1000369.
3. Anagnostouli M, Anagnostoulis G, Katsavos S, Panagiotou M, Kararizou E, Davaki P. HLA-DRB1 15:01 and Epstein-Barr virus in a multiple sclerosis patient with psoriasis, nasopharyngeal and breast cancers. Lessons for possible hidden links for autoimmunity and cancer. J Neurol Sci 2014;339:26-31.
4. Kikuchi S, Fukazawa T, Niino M, Yabe I, Miyagishi R, Hamada T, Tashiro K. Estrogen receptor gene polymorphism and multiple sclerosis in Japanese patients: interaction with HLA-DRB1*1501 and disease modulation. J Neuroimmunol 2002;128:77-81.
6. Lennon VA, Wingerchuk DM, Kryzer TJ, Pittock SJ, Lucchinetti CF, Fujihara K, Nakashima I, Weinshenker BG. A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet 2004;364:2106-12.
7. Devic E. Myelite subaigue compliquee de nevrite optique. Bull Med (Paris) 1894;8:1033-4.
8. Wingerchuk DM, Hogancamp WF, O'Brien PC, Weinshenker BG. The clinical course of neuromyelitis optica (Devic's syndrome). Neurology 1999;53:1107-14.
9. Wingerchuk DM, Lennon VA, Pittock SJ, Lucchinetti CF, Weinshenker BG. Revised diagnostic criteria for neuromyelitis optica. Neurology 2006;66:1485-9.
10. Cree BA, Khan O, Bourdette D, Goodin DS, Cohen JA, Marrie RA, Glidden D, Weinstock-Guttman B, Reich D, Patterson N, Haines JL, Pericak-Vance M, DeLoa C, Oksenberg JR, Hauser SL. Clinical characteristics of African Americans vs Caucasian Americans with multiple sclerosis. Neurology 2004;63:2039-45.
11. Cabre P, Heinzlef O, Merle H, Buisson GG, Bera O, Bellance R, Vernant JC, Smadja D. MS and neuromyelitis optica in Martinique (French West Indies). Neurology 2001;56:507-14.
13. Das A, Puvanendran K. A retrospective review of patients with clinically definite multiple sclerosis. Ann Acad Med Singapore 1998;27:204-9.
14. Gangopadhyay G, Das SK, Sarda P, Saha SP, Gangopadhyay PK, Roy TN, Maity B. Clinical profile of multiple sclerosis in Bengal. Neurol India 1999;47:18-21.
15. Papais-Alvarenga RM, Miranda-Santos CM, Puccioni-Sohler M, de Almeida AM, Oliveira S, Basilio De Oliveira CA, Alvarenga H, Poser CM. Optic neuromyelitis syndrome in Brazilian patients. J Neurol Neurosurg Psychiatry 2002;73:429-35.
16. Misu T, Fujihara K, Nakashima I, Miyazawa I, Okita N, Takase S, Itoyama Y. Pure optic-spinal form of multiple sclerosis in Japan. Brain 2002;125:2460-8.
17. de Seze J, Lebrun C, Stojkovic T, Ferriby D, Chatel M, Vermersch P. Is Devic's neuromyelitis optica a separate disease? A comparative study with multiple sclerosis. Mult Scler 2003;9:521-5.
18. Ghezzi A, Bergamaschi R, Martinelli V, Trojano M, Tola MR, Merelli E, Mancardi L, Gallo P, Filippi M, Zaffaroni M, Comi G; Italian Devic's Study Group (IDESG). Clinical characteristics, course and prognosis of relapsing Devic's neuromyelitis optica. J Neurol 2004;251:47-52.
19. Davis R, Thiele E, Barnes P, Riviello JJ, Jr. Neuromyelitis optica in childhood: case report with sequential MRI findings. J Child Neurol 1996;11:164-7.
20. Filley CM, Sternberg PE, Norenberg MD. Neuromyelitis optica in the elderly. Arch Neurol 1984;41:670-2.
21. Matiello M, Kim HJ, Kim W, Brum DG, Barreira AA, Kingsbury DJ, Plant GT, Adoni T, Weinshenker BG. Familial neuromyelitis optica. Neurology 2010;75:310-5.
22. Misu T, Fujihara K, Nakashima I, Sato S, Itoyama Y. Intractable hiccup and nausea with periaqueductal lesions in neuromyelitis optica. Neurology 2005;65:1479-82.
23. Poppe AY, Lapierre Y, Melançon D, Lowden D, Wardell L, Fullerton LM, Bar-Or A. Neuromyelitis optica with hypothalamic involvement. Mult Scler 2005;11:617-21.
24. Maga-a SM, Matiello M, Pittock SJ, McKeon A, Lennon VA, Rabinstein AA, Shuster E, K antarci OH, Lucchinetti CF, Weinshenker BG. Posterior reversible encephalopathy syndrome in neuromyelitis optica spectrum disorders. Neurology 2009;72:712-7.
25. Jarius S, Wildemann B, Paul F. Neuromyelitis optica: clinical features, immunopathogenesis and treatment. Clin Exp Immunol 2014;176:149-64.
26. Graber DJ, Levy M, Kerr D, Wade WF. Neuromyelitis optica pathogenesis and aquaporin 4. J Neuroinflammation 2008;5:22.
27. Asgari N. Epidemiological, clinical and immunological aspects of neuromyelitis optica (NMO). Dan Med J 2013;60:B4730.
28. Alexopoulos H, K ampylafka EI, Chatzi I, Travasarou M, Karageorgiou KE, Dalakas MC, Tzioufas AG. Reactivity to AQP4 epitopes in relapsing-remitting multiple sclerosis. J Neuroimmunol 2013;260:117-20.
29. Mader S, Gredler V, Schanda K, Rostasy K, Dujmovic I, Pfaller K, Lutterotti A, Jarius S, Di Pauli F, Kuenz B, Ehling R, Hegen H, Deisenhammer F, Aboul-Enein F, Storch MK, Koson P, Drulovic J, Kristoferitsch W, Berger T, Reindl M. Complement activating antibodies to myelin oligodendrocyte glycoprotein in neuromyelitis optica and related disorders. J Neuroinflammation 2011;8:184.
30. Iyer A, Elsone L, Appleton R, Jacob A. A review of the current literature and a guide to the early diagnosis of autoimmune disorders associated with neuromyelitis optica. Autoimmunity 2014;47:154-61.
31. Wingerchuk DM, Weinshenker BG. The emerging relationship between neuromyelitis optica and systemic rheumatologic autoimmune disease. Mult Scler 2012;18:5-10.
32. Avidan N, Le Panse R, Berrih-Aknin S, Miller A. Genetic basis of myasthenia gravis - a comprehensive review. J Autoimmun 2013;52:146-53.
33. Schluep M, Willcox N, Vincent A, Dhoot GK, Newsom-Davis J. Acetylcholine receptors in human thymic myoid cells in situ: an immunohistological study. Ann Neurol 1987;22:212-22.
34. Wekerle H, Ketelsen UP. Intrathymic pathogenesis and dual genetic control of myasthenia gravis. Lancet 1977;1:678-80.
35. Leite MI, Jones M, Ströbel P, Marx A, Gold R, Niks E, Verschuuren JJ, Berrih-Aknin S, Scaravilli F, Canelhas A, Morgan BP, Vincent A, Willcox N. Myasthenia gravis thymus: complement vulnerability of epithelial and myoid cells, complement attack on them, and correlations with autoantibody status. Am J Pathol 2007;171:893-905.
36. Giraud M, Taubert R, Vandiedonck C, Ke X, Lévi-Strauss M, Pagani F, Baralle FE, Eymard B, Tranchant C, Gajdos P, Vincent A, Willcox N, Beeson D, Kyewski B, Garchon HJ. An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature 2007;448:934-7.
37. Zéphir H, Fajardy I, Outteryck O, Blanc F, Roger N, Fleury M, Rudolf G, Marignier R, Vukusic S, Confavreux C, Vermersch P, de Seze J. Is neuromyelitis optica associated with human leukocyte antigen? Mult Scler 2009;15:571-9.
38. Fukazawa T, Yamasaki K, Ito H, Kikuchi S, Minohara M, Horiuchi I, Tsukishima E, Sasaki H, Hamada T, Nishimura Y, Tashiro K, Kira J. Both the HLA-CPB1 and -DRB1 alleles correlate with risk for multiple sclerosis in Japanese: clinical phenotypes and gender as important factors. Tissue Antigens 2000;55:199-205.
39. Isobe N, Matsushita T, Yamasaki R, Ramagopalan SV, Kawano Y, Nishimura Y, Ebers GC, Kira J. Influence of HLA-DRB1 alleles on the susceptibility and resistance to multiple sclerosis in Japanese patients with respect to anti-aquaporin 4 antibody status. Mult Scler 2010;16:147-55.
40. Yoshimura S, Isobe N, Matsushita T, Yonekawa T, Masaki K, Sato S, Kawano Y, Kira J; South Japan Multiple Sclerosis Genetics Consortium. Distinct genetic and infectious profiles in Japanese neuromyelitis optica patients according to anti-aquaporin 4 antibody status. J Neurol Neurosurg Psychiatry 2013;84:29-34.
41. Wang H, Dai Y, Qiu W, Zhong X, Wu A, Wang Y, Lu Z, Bao J, Hu X. HLA-DPB1*0501 is associated with susceptibility to anti-aquaporin-4 antibodies positive neuromyelitis optica in southern Han Chinese. J Neuroimmunol 2011;233:181-4.
42. Matsushita T, Matsuoka T, Isobe N, Kawano Y, Minohara M, Shi N, Nishimura Y, Ochi H, Kira J. Association of the HLA-DPB1*0501 allele with anti-aquaporin-4 antibody positivity in Japanese patients with idiopathic central nervous system demyelinating disorders. Tissue Antigens 2009;73:171-6.
43. Kira J. Neuromyelitis optica and opticospinal multiple sclerosis: mechanisms and pathogenesis. Pathophysiology 2011;18:69-79.
44. Fukazawa T, Kikuchi S, Miyagishi R, Miyazaki Y, Yabe I, Hamada T, Sasaki H. HLA-dPB1*0501 is not uniquely associated with opticospinal multiple sclerosis in Japanese patients. Important role of DPB1 * 0301. Mult Scler 2006;12:19-23.
45. Ito H, Yamasaki K, Kawano Y, Horiuchi I, Yun C, Nishimura Y, Kira J. HLA-DP-associated susceptibility to the optico-spinal form of multiple sclerosis in the Japanese. Tissue Antigens 1998;52:179-82.
46. Yamasaki K, Horiuchi I, Minohara M, Kawano Y, Ohyagi Y, Yamada T, Mihara F, Ito H, Nishimura Y, Kira J. HLA-DPB1 * 0501-associated opticospinal multiple sclerosis: clinical, neuroimaging and immunogenetic studies. Brain 1999;122:1689-96.
47. Ramagopalan SV, Morris AP, Dyment DA, Herrera BM, DeLuca GC, Lincoln MR, Orton SM, Chao MJ, Sadovnick AD, Ebers GC. The inheritance of resistance alleles in multiple sclerosis. PLoS Genet 2007;3:1607-13.
48. DeLuca GC, Ramagopalan SV, Herrera BM, Dyment DA, Lincoln MR, Montpetit A, Pugliatti M, Barnardo MC, Risch NJ, Sadovnick AD, Chao M, Sotgiu S, Hudson TJ, Ebers GC. An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus. Proc Natl Acad Sci U S A 2007;104:20896-901.
49. Mochida A, Kinouchi Y, Negoro K, Takahashi S, Takagi S, Nomura E, Kakuta Y, Tosa M, Shimosegawa T. Butyrophilin-like 2 gene is associated with ulcerative colitis in the Japanese under strong linkage disequilibrium with HLA-DRB1*1502. Tissue Antigens 2007;70:128-35.
50. Movahedi M, Moin M, Gharagozlou M, Aghamohammadi A, Dianat S, Moradi B, Nicknam MH, Nikbin B, Amirzargar A. Association of HLA class II alleles with childhood asthma and Total IgE levels. Iran J Allergy Asthma Immunol 2008;7:215-20.
51. Chen J, Tan Z, Li J, Xiong P. Association of HLA-DRB1, DQB1 alleles with chronic urticaria. J Huazhong Univ Sci Technolog Med Sci 2005;25:354-6.
52. Boehncke WH, Loeliger C, Kuehnl P, Kalbacher H, Böhm BO, Gall H. Identification of HLA-DR and -DQ alleles conferring susceptibility to pollen allergy and pollen associated food allergy. Clin Exp Allergy 1998;28:434-41.
53. Asgari N, Nielsen C, Stenager E, Kyvik KO, Lillevang ST. HLA, PTPN22 and PD-1 associations as markers of autoimmunity in neuromyelitis optica. Mult Scler 2012;18:23-30.
54. Matiello M, Schaefer-Klein J, Brum DG, Atkinson EJ, Kantarci OH, Weinshenker BG; NMO genetics collaborators. HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica. Mult Scler 2010;16:981-4.
55. Arellano B, Hussain R, Zacharias T, Yoon J, David C, Zein S, Steinman L, Forsthuber T, Greenberg BM, Lambracht-Washington D, Ritchie AM, Bennett JL, Stüve O. Human aquaporin 4281-300 is the immunodominant linear determinant in the context of HLA-DRB1*03:01: relevance for diagnosing and monitoring patients with neuromyelitis optica. Arch Neurol 2012;69:1125-31.
56. Brum DG, Barreira AA, dos Santos AC, Kaimen-Maciel DR, Matiello M, Costa RM, Deghaide NH, Costa LS, Louzada-Junior P, Diniz PR, Comini-Frota ER, Mendes-Junior CT, Donadi EA. HLA-DRB association in neuromyelitis optica is different from that observed in multiple sclerosis. Mult Scler 2010;16:21-9.
57. Cree BA, Reich DE, Khan O, De Jager PL, Nakashima I, Takahashi T, Bar-Or A, Tong C, Hauser SL, Oksenberg JR. Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLA. Arch Neurol 2009;66:226-33.
58. Deschamps R, Paturel L, Jeannin S, Chausson N, Olindo S, Béra O, Bellance R, Smadja D, Césaire D, Cabre P. Different HLA class II (DRB1 and DQB1) alleles determine either susceptibility or resistance to NMO and multiple sclerosis among the French Afro-Caribbean population. Mult Scler 2011;17:24-31.
59. Kim JY, Cheong HS, Kim HJ, Kim LH, Namgoong S, Shin HD. Association analysis of IL7R polymorphisms with inflammatory demyelinating diseases. Mol Med Rep 2014;9:737-43.
60. Ainiding G, Kawano Y, Sato S, Isobe N, Matsushita T, Yoshimura S, Yonekawa T, Yamasaki R, Murai H, Kira J, South Japan Multiple Sclerosis Genetics Consortium. Interleukin 2 receptor α chain gene polymorphisms and risks of multiple sclerosis and neuromyelitis optica in southern Japanese. J Neurol Sci 2014;337:147-50.
61. Park TJ, Kim HJ, Kim JH, Bae JS, Cheong HS, Park BL, Shin HD. Associations of CD6, TNFRSF1A and IRF8 polymorphisms with risk of inflammatory demyelinating diseases. Neuropathol Appl Neurobiol 2013;39:519-30.
62. Zhao GX, Liu Y, Li ZX, Lv CZ, Traboulsee A, Sadovnick AD, Wu ZY. Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population. Neurosci Bull 2013;29:525-30.
63. Kim HJ, Park HY, Kim E, Lee KS, Kim KK, Choi BO, Kim SM, Bae JS, Lee SO, Chun JY, Park TJ, Cheong HS, Jo I, Shin HD. Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica. Neurobiol Dis 2010;37:349-55.
64. Matiello M, Schaefer-Klein JL, Hebrink DD, Kingsbury DJ, Atkinson EJ, Weinshenker BG; NMO Genetics Collaborators. Genetic analysis of aquaporin-4 in neuromyelitis optica. Neurology 2011;77:1149-55.
65. Buck D, Cepok S, Hoffmann S, Grummel V, Jochim A, Berthele A, Hartung HP, Wassmuth R, Hemmer B. Influence of the HLA-DRB1 genotype on antibody development to interferon beta in multiple sclerosis. Arch Neurol 2011;68:480-7.
