BRAIN and NERVE－神経研究の進歩67巻12号

2015年12月発行

総説

SLONM-MGUS—M蛋白血症を伴う孤発性成人発症型ネマリンミオパチー

著者： 永井太士¹ 砂田芳秀¹

所属機関： ¹川崎医科大学附属病院神経内科

ページ範囲：P.1515 - P.1521

文献概要

孤発性成人発症型ネマリンミオパチーは進行性の筋力低下を呈する稀な疾患であり，血清CK値も正常なことから，運動ニューロン疾患と誤診される可能性がある。中でも意義不明のM蛋白血症を合併する症例は予後不良であり，各種免疫療法の効果は乏しく，患者は数年の経過で呼吸不全から死亡に至ることが多い。近年，本疾患の治療として高用量化学療法に続く自己末梢血幹細胞移植が奏効するとの報告が散見され，注目されている。

参考文献

1) Shy GM, Engel WK, Somers J, Wanko T: Nemaline myopathy: a new congenital myopathy. Brain 86: 793-810, 1963

2) Romero NB, Sandaradura SA, Clarke NF: Recent advances in nemaline myopathy. Curr Opin Neurol 26: 519-526, 2013

3) Engel AG: Late-onset rod myopathy (a new syndrome?): light and electron microscopic observations in two cases. Mayo Clin Proc 41: 713-741, 1966

4) North KN, Laign NG, Wallgren-Pettersson C, The ENMC International Consortium on Nemaline Myopathy: Nemaline myopathy: current concepts. J Med Genet 34: 705-713, 1997

5) Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, et al: Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 50: 312-320, 2001

6) 鈴木ゆめ, 埜中征哉, 秋山千枝子, 黒岩義之: 成人ネマリンミオパチーの臨床的, 筋病理学的検討. 臨床神経38: 791-795, 1998

7) Chahin N, Selcen D, Engel AG: Sporadic late onset nemaline myopathy. Neurology 65: 1158-1164, 2005

8) Feinberg DM, Spiro AJ, Weidenheim KM: Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy. Neurology 50: 529-531, 1998

9) Dalakas MC, Pezeshkpour GH, Flaherty M: Progressive nemaline (rod) myopathy associated with HIV infection. N Engl J Med 317: 1602-1603, 1987

10) Gonzales MF, Olney RK, So YT, Greco CM, McQuinn BA, et al: Subacute structural myopathy associated with human immunodeficiency virus infection. Arch Neurol 45: 585-587, 1988

11) Dwyer BA, Mayer RF, Lee SC: Progressive nemaline (rod) myopathy as a presentation of human immunodeficiency virus infection. Arch Neurol 49: 440, 1992

12) Simpson DM, Bender AN: Human immunodeficiency virus-associated myopathy: analysis of 11 patients. Ann Neurol 24: 79-84, 1988

13) Cabello A, Martinez-Martin P, Gutierrez-Rivas E, Madero S: Myopathy with nemaline structures associated with HIV infection. J Neurol 237: 64-66, 1990

14) Maytal J, Horowitz S, Lipper S, Poiesz B, Wang CY, et al: Progressive nemaline rod myopathy in a woman coinfected with HIV-1 and HTLV-2．Mt Sinai J Med 60: 242-246, 1993

15) Engel WK, Oberc MA: Abundant nuclear rods in adult-onset rod disease. J Neuropathol Exp Neurol 34: 119-132, 1975

16) Seitz RJ, Toyka KV, Wechsler W: Adult-onset mixed myopathy with nemaline rods, minicores, and central cores: a muscle disorder mimicking polymyositis. J Neurol 231: 103-108, 1984

17) Eymard B, Brouet JC, Collin H, Chevallay M, Bussel A, et al: Late-onset rod myopathy associated with monoclonal gammopathy. Neuromuscul Disord 3: 557-560, 1993

18) Deconinck N, Laterre EC, Van den Bergh PYK: Adult-onset nemaline myopathy and monoclonal gammopathy. Acta Neurol Belg 100: 34-40, 2000

19) Benveniste O, Laforet P, Dubourg O, Solly S, Musset L, et al: Stem cell transplantation in a patient with late-onset nemaline myopathy and gammopathy. Neurology 71: 531-532, 2008

20) Voermans NC, Minnema M, Lammens M, Schelhaas HJ, Kooi AV, et al: Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. Neurology 71: 532-534, 2008

21) Voermans NC, Benveniste O, Minnema MC, Lokhorst H, Lammens M, et al: Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT. Neurology 83: 2133-2139, 2014

22) Novy J, Rosselet A, Spertini O, Lobrinus JA, Pabst T, et al: Chemotherapy is successful in sporadic late onset nemaline myopathy (SLONM) with monoclonal gammopathy. Muscle Nerve 41: 286-287, 2010

23) Milone M, Katz A, Amato AA, Soderland CA, Segarceanu M, et al: Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy. Muscle Nerve 41: 272-276, 2010

24) Doppler K, Knop S, Einsele H, Sommer C, Wessig C: Sporadic late onset nemaline myopathy and immunoglobulin deposition disease. Muscle Nerve 48: 983-988, 2013

25) Maeda MH, Ohta H, Izutsu K, Shimizu J, Uesaka Y: Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset. Muscle Nerve 51: 772-774, 2015

26) 埜中征哉: 先天性ミオパチー. 臨床のための筋病理　第3版増補. 日本医事新報社, 東京, 2005, pp92-97

27) Kuwabara S, Misawa S, Kanai K, Kikkawa Y, Nishimura M, et al: Autologous peripheral blood stem cell transplantation for POEMS syndrome. Neurology 66: 105-107, 2006

28) Jaccard A, Moreau P, Leblond V, Leleu X, Benboubker L, et al: High-dose melphalan versus melphalan plus dexamethasone for AL amyloidosis.N Engl J Med 357: 1083-1093, 2007