BRAIN and NERVE－神経研究の進歩70巻4号

2018年04月発行

増大特集 Antibody Update 2018

封入体筋炎と自己抗体

著者： 山下賢¹ 安東由喜雄¹

所属機関： ¹熊本大学大学院生命科学研究部神経内科学

ページ範囲：P.449 - P.457

文献概要

孤発性封入体筋炎は，手指屈筋や大腿四頭筋の筋力低下と筋萎縮を特徴とする筋疾患であるが，原因は不明で治療法は未確立である。本疾患の病態として，炎症と変性機序のクロストークが推測されるが，病態解明の端緒と期待されるのが近年本患者に同定されたサイトゾル5’-ヌクレオチダーゼ1Aに対する自己抗体である。本抗体は特異度の点から診断に有用であるとともに，直接的に筋変性を誘導する可能性が推測される。

参考文献

1)Suzuki N, Aoki M, Mori-Yoshimura M, Hayashi YK, Nonaka I, et al: Increase in number of sporadic inclusion body myositis (sIBM) in Japan. J Neurol 259: 554-556, 2012

2)Griggs RC, Askanas V, DiMauro S, Engel A, Karpati G, et al: Inclusion body myositis and myopathies. Ann Neurol 38: 705-713, 1995

3)Paltiel AD, Ingvarsson E, Lee DK, Leff RL, Nowak RJ, et al: Demographic and clinical features of inclusion body myositis in North America. Muscle Nerve 52: 527-533, 2015

4)Suzuki N, Mori-Yoshimura M, Yamashita S, Nakano S, Murata KY, et al: Multicenter questionnaire survey for sporadic inclusion body myositis in Japan. Orphanet J Rare Dis 11: 146, 2016［doi: 10.1186/s13023-016-0524-x］

5)Benveniste O, Guiguet M, Freebody J, Dubourg O, Squier W, et al: Long-term observational study of sporadic inclusion body myositis. Brain 134: 3176-3184, 2011

6)Cox FM, Titulaer MJ, Sont JK, Wintzen AR, Verschuuren JJ, et al: A 12-year follow-up in sporadic inclusion body myositis: an end stage with major disabilities. Brain 134: 3167-3175, 2011

7)Dabby R, Lange DJ, Trojaborg W, Hays AP, Lovelace RE, et al: Inclusion body myositis mimicking motor neuron disease. Arch Neurol 58: 1253-1256, 2001

8)Cox FM, Reijnierse M, van Rijswijk CS, Wintzen AR, Verschuuren JJ, et al: Magnetic resonance imaging of skeletal muscles in sporadic inclusion body myositis. Rheumatology (Oxford) 50: 1153-1161, 2011

9)Noto Y, Shiga K, Tsuji Y, Kondo M, Tokuda T, et al: Contrasting echogenicity in flexor digitorum profundus-flexor carpi ulnaris: a diagnostic ultrasound pattern in sporadic inclusion body myositis. Muscle Nerve 49: 745-748, 2014

10)Nodera H, Takamatsu N, Matsui N, Mori A, Terasawa Y, et al: Intramuscular dissociation of echogenicity in the triceps surae characterizes sporadic inclusion body myositis. Eur J Neurol 23: 588-596, 2016

11)Salajegheh M, Pinkus JL, Taylor JP, Amato AA, Nazareno R, et al: Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis. Muscle Nerve 40: 19-31, 2009

12)Weihl CC, Temiz P, Miller SE, Watts G, Smith C, et al: TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. J Neurol Neurosurg Psychiatry 79: 1186-1189, 2008

13)Olivé M, Janué A, Moreno D, Gámez J, Torrejón-Escribano B, et al: TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. J Neuropathol Exp Neurol 68: 262-273, 2009

14)Küsters B, van Hoeve BJ, Schelhaas HJ, Ter Laak H, van Engelen BG, et al: TDP-43 accumulation is common in myopathies with rimmed vacuoles. Acta Neuropathol 117: 209-211, 2009

15)D'Agostino C, Nogalska A, Engel WK, Askanas V: In sporadic inclusion body myositis muscle fibres TDP-43-positive inclusions are less frequent and robust than p62 inclusions, and are not associated with paired helical filaments. Neuropathol Appl Neurobiol 37: 315-320, 2011

16)Hiniker A, Daniels BH, Lee HS, Margeta M: Comparative utility of LC3, p62 and TDP-43 immunohistochemistry in differentiation of inclusion body myositis from polymyositis and related inflammatory myopathies. Acta Neuropathol Commun 1: 29, 2013［doi: 10.1186/2051-5960-1-29］

17)Bohan A, Peter JB: Polymyositis and dermatomyositis (first of two parts). N Engl J Med 292: 344-347, 1975

18)Bohan A, Peter JB: Polymyositis and dermatomyositis (second of two parts). N Engl J Med 292: 403-407, 1975

19)Lloyd TE, Mammen AL, Amato AA, Weiss MD, Needham M, et al: Evaluation and construction of diagnostic criteria for inclusion body myositis. Neurology 83: 426-433, 2014

20)Koffman BM, Rugiero M, Dalakas MC: Immune-mediated conditions and antibodies associated with sporadic inclusion body myositis. Muscle Nerve 21: 115-117, 1998

21)Larman HB, Salajegheh M, Nazareno R, Lam T, Sauld J, et al: Cytosolic 5'-nucleotidase 1A autoimmunity in sporadic inclusion body myositis. Ann Neurol 73: 408-418, 2013

22)Pluk H, van Hoeve BJ, van Dooren SH, Stammen-Vogelzangs J, van der Heijden A, et al: Autoantibodies to cytosolic 5'-nucleotidase 1A in inclusion body myositis. Ann Neurol 73: 397-407, 2013

23)Greenberg SA: Cytoplasmic 5'-nucleotidase autoantibodies in inclusion body myositis: Isotypes and diagnostic utility. Muscle Nerve 50: 488-492, 2014

24)Salajegheh M, Lam T, Greenberg SA: Autoantibodies against a 43 KDa muscle protein in inclusion body myositis. PLOS ONE 6: e20266, 2011［doi: 10.1371/journal.pone.0020266］

25)Lloyd TE, Christopher-Stine L, Pinal-Fernandez I, Tiniakou E, Petri M, et al: Cytosolic 5'-nucleotidase 1A as a target of circulating autoantibodies in autoimmune diseases. Arthritis Care Res (Hoboken) 68: 66-71, 2016

26)Goyal NA, Cash TM, Alam U, Enam S, Tierney P, et al: Seropositivity for NT5c1A antibody in sporadic inclusion body myositis predicts more severe motor, bulbar and respiratory involvement. J Neurol Neurosurg Psychiatry 87: 373-378, 2016

27)Herbert MK, Pruijn GJ: Novel serology testing for sporadic inclusion body myositis: disease-specificity and diagnostic utility. Curr Opin Rheumatol 27: 595-600, 2015

28)Muro Y, Nakanishi H, Katsuno M, Kono M, Akiyama M: Prevalence of anti-NT5C1A antibodies in Japanese patients with autoimmune rheumatic diseases in comparison with other patient cohorts. Clin Chim Acta 472: 1-4, 2017

29)Tawara N, Yamashita S, Zhang X, Korogi M, Zhang Z, et al: Pathomechanisms of anti-cytosolic 5'-nucleotidase 1A autoantibodies in sporadic inclusion body myositis. Ann Neurol 81: 512-525, 2017

30)Herbert MK, Stammen-Vogelzangs J, Verbeek MM, Rietveld A, Lundberg IE, et al: Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases. Ann Rheum Dis 75: 696-701, 2016

31)Barohn RJ, Amato AA, Sahenk Z, Kissel JT, Mendell JR: Inclusion body myositis: explanation for poor response to immunosuppressive therapy. Neurology 45: 1302-1304, 1995

32)Dalakas MC, Sonies B, Dambrosia J, Sekul E, Cupler E, et al: Treatment of inclusion-body myositis with IVIg: a double-blind, placebo-controlled study. Neurology 48: 712-716, 1997

33)Cherin P, Pelletier S, Teixeira A, Laforet P, Simon A, et al: Intravenous immunoglobulin for dysphagia of inclusion body myositis. Neurology 58: 326, 2002

34)Orimo S, Koga R, Goto K, Nakamura K, Arai M, et al: Immunohistochemical analysis of perforin and granzyme A in inflammatory myopathies. Neuromuscul Disord 4: 219-226, 1994

35)Fyhr IM, Moslemi AR, Lindberg C, Oldfors A: T cell receptor beta-chain repertoire in inclusion body myositis. J Neuroimmunol 91: 129-134, 1998

36)Dimitri D, Benveniste O, Dubourg O, Maisonobe T, Eymard B, et al: Shared blood and muscle CD8+ T-cell expansions in inclusion body myositis. Brain 129: 986-995, 2006

37)Greenberg SA, Pinkus JL, Amato AA, Kristensen T, Dorfman DM: Association of inclusion body myositis with T cell large granular lymphocytic leukaemia. Brain 139: 1348-1360, 2016

38)Dalakas MC, Rakocevic G, Schmidt J, Salajegheh M, McElroy B, et al: Effect of Alemtuzumab (CAMPATH 1-H) in patients with inclusion-body myositis. Brain 132: 1536-1544, 2009

39)Sugarman MC, Kitazawa M, Baker M, Caiozzo VJ, Querfurth HW, et al: Pathogenic accumulation of APP in fast twitch muscle of IBM patients and a transgenic model. Neurobiol Aging 27: 423-432, 2006

40)Sugarman MC, Yamasaki TR, Oddo S, Echegoyen JC, Murphy MP, et al: Inclusion body myositis-like phenotype induced by transgenic overexpression of beta APP in skeletal muscle. Proc Natl Acad Sci U S A 99: 6334-6339, 2002

41)Nagaraju K, Raben N, Loeffler L, Parker T, Rochon PJ, et al: Conditional up-regulation of MHC class I in skeletal muscle leads to self-sustaining autoimmune myositis and myositis-specific autoantibodies. Proc Natl Acad Sci U S A 97: 9209-9214, 2000

42)Weihl CC, Baloh RH, Lee Y, Chou TF, Pittman SK, et al: Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis. Neuromuscul Disord 25: 289-296, 2015

43)Lilleker JB, Rietveld A, Pye SR, Mariampillai K, Benveniste O, et al: Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis. Ann Rheum Dis 76: 862-868, 2017