Familial Neuromyelitis Optica: A Case Report and Literature Review
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Abstract
Neuromyelitis Optica Spectrum Disorder (NMOSD) is an autoimmune rare disorder that involves the endfeet of astrocytes. The role of genetics in the disease is not well known. Rare cases of familial NMOSD were reported worldwide. In this report, first, we presented a young man with myelitis and his cousin who suffered from this disease. Then we reviewed some reports around the world about familial NMO. The prevalence of familial NMO is nearly 3%. First cases are reported from East Asia. Its characteristics are similar to the sporadic type. Recent data suggest genetics play role in NMO.
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6. Chuquilin M, Mullaguri N, Weinshenker B. Pediatric familial neuromyelitis optica in two sisters with long term follow-up. Journal of Clinical Neuroscience. 2016;29:183-4. https://doi. org/10.1016/j.jocn.2016.01.009
7. Matiello M, Kim H, Kim W, Brum D, Barreira A, Kingsbury D, et al. Familial neuromyelitis optica. Neurology. 2010;75(4):310-5. https://doi.org/10.1212/WNL.0b013e3181ea9f15
8. Moutsianas L, Jostins L, Beecham AH, Dilthey AT, Xifara DK, Ban M, et al. Class II HLA interactions modulate genetic risk for multiple sclerosis. Nature genetics. 2015;47(10):1107. https:// doi.org/10.1038/ng.3395
9. Hinson S, Pittock S, Lucchinetti C, Roemer S, Fryer J, Kryzer T, et al. Pathogenic potential of IgG binding to water channel extracellular domain in neuromyelitis optica. Neurology. 2007;69(24):2221- 31. https://doi.org/10.1212/01.WNL.0000289761.64862.ce
10. Wang Q-S, Xiao H-Q, Chen H-X, Liu Y-P, Ding X-D. The single nucleotide polymorphism site of aquaporin-4 gene in pa- tients with neuromyelitis optica. Experimental and therapeu- tic medicine. 2017;14(6):6017-21. https://doi.org/10.3892/ etm.2017.5267
11. Matsushita T, Matsuoka T, Isobe N, Kawano Y, Minohara M, Shi N, et al. 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(2):171-6. https://doi.org/10.1111/ j.1399-0039.2008.01172.x
12. Sellner J, Hemmer B, Mühlau M. The clinical spectrum and immunobiology of parainfectious neuromyelitis optica (Devic) syndromes. Journal of autoimmunity. 2010;34(4):371-9. https://doi.org/10.1016/j.jaut.2009.09.013
13. Pittock SJ, Lennon VA. Aquaporin-4 autoantibodies in a paraneoplastic context. Archives of Neurology. 2008;65(5):629- 32. https://doi.org/10.1001/archneur.65.5.629
2. Wingerchuk DM, Banwell B, Bennett JL, Cabre P, Carroll W, Chitnis T, et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015;85(2):177-89. https://doi.org/10.1212/ WNL.0000000000001729
3. Braley T, Mikol DD. Neuromyelitis optica in a mother and daughter. Archives of neurology. 2007;64(8):1189-92. https:// doi.org/10.1001/archneur.64.8.1189
4. Kavoussi SC, Lesser RL. Genetic Anticipation in Familial Neuromyelitis Optica: Case and Literature Review. Connecticut medicine. 2015;79(4).
5. Yoshimine S, Sakai T, Ogasawara M, Shikishima K, Tsuneoka H, Tanaka K. Anti-aquaporin-4 antibody-positive familial neuromyelitis optica in mother and daughter. Japanese Journal of Ophthalmology. 2011;55(6):647-50. https://doi. org/10.1007/s10384-011-0086-3
6. Chuquilin M, Mullaguri N, Weinshenker B. Pediatric familial neuromyelitis optica in two sisters with long term follow-up. Journal of Clinical Neuroscience. 2016;29:183-4. https://doi. org/10.1016/j.jocn.2016.01.009
7. Matiello M, Kim H, Kim W, Brum D, Barreira A, Kingsbury D, et al. Familial neuromyelitis optica. Neurology. 2010;75(4):310-5. https://doi.org/10.1212/WNL.0b013e3181ea9f15
8. Moutsianas L, Jostins L, Beecham AH, Dilthey AT, Xifara DK, Ban M, et al. Class II HLA interactions modulate genetic risk for multiple sclerosis. Nature genetics. 2015;47(10):1107. https:// doi.org/10.1038/ng.3395
9. Hinson S, Pittock S, Lucchinetti C, Roemer S, Fryer J, Kryzer T, et al. Pathogenic potential of IgG binding to water channel extracellular domain in neuromyelitis optica. Neurology. 2007;69(24):2221- 31. https://doi.org/10.1212/01.WNL.0000289761.64862.ce
10. Wang Q-S, Xiao H-Q, Chen H-X, Liu Y-P, Ding X-D. The single nucleotide polymorphism site of aquaporin-4 gene in pa- tients with neuromyelitis optica. Experimental and therapeu- tic medicine. 2017;14(6):6017-21. https://doi.org/10.3892/ etm.2017.5267
11. Matsushita T, Matsuoka T, Isobe N, Kawano Y, Minohara M, Shi N, et al. 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(2):171-6. https://doi.org/10.1111/ j.1399-0039.2008.01172.x
12. Sellner J, Hemmer B, Mühlau M. The clinical spectrum and immunobiology of parainfectious neuromyelitis optica (Devic) syndromes. Journal of autoimmunity. 2010;34(4):371-9. https://doi.org/10.1016/j.jaut.2009.09.013
13. Pittock SJ, Lennon VA. Aquaporin-4 autoantibodies in a paraneoplastic context. Archives of Neurology. 2008;65(5):629- 32. https://doi.org/10.1001/archneur.65.5.629
| Files | ||
| Issue | Vol 7 No 6 (2022): November-December | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/crcp.v7i6.12276 | |
| Keywords | ||
| NMO Familial myelitis | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
ebadi zahra, Ghadiri F, Asadollahzade E, Naser Moghadasi A. Familial Neuromyelitis Optica: A Case Report and Literature Review. CRCP. 2023;7(6):301-305.
