315
Views
1
CrossRef citations to date
0
Altmetric
Review Article

Inclusion body myositis. Genetics, biomarkers and muscle biopsy

, &
Pages 1211-1217 | Received 13 Dec 2018, Accepted 17 Mar 2020, Published online: 19 Jul 2023

References

  • Phillips BA, Zilko PJ, Mastaglia FL. Prevalence of sporadic inclusion body myositis in Western Australia. Muscle Nerve. 2000;23(6):970–972.
  • Badrising UA, Maat-Schieman M, van Duinen SG, et al. Epidemiology of inclusion body myositis in the Netherlands: a nationwide study. Neurology. 2000;55(9):1385–1387.
  • Wilson FC, Ytterberg SR, St Sauver JL, et al. Epidemiology of sporadic inclusion body myositis and polymyositis in Olmsted County, Minnesota. J Rheumatol. 2008;35(3):445–447.
  • Chahin N, Engel AG. Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM. Neurology. 2008;70(6):418–424.
  • Amato AA, Gronseth GS, Jackson CE, et al. Inclusion body myositis: clinical and pathological boundaries. Ann Neurol. 1996;40(4):581–586.
  • Barohn RJ, Amato AA. Inclusion body myositis. Curr Treat Options Neurol. 2000;2(1):7–12.
  • Ioannis M, Foivos P, Dimitrios K. A review on the treatment of sporadic inclusion body myositis with Bimagrumab and Alemtuzumab. Int J Neurosci. 2019;129(3):297–302.
  • Lotz BP, Engel AG, Nishino H, et al. Inclusion body myositis. Observations in 40 patients. Brain. 1989;112(3):727–747.
  • Lindberg C, Persson LI, Bjorkander J, et al. Inclusion body myositis: clinical, morphological, physiological and laboratory findings in 18 cases. Acta Neurol Scand. 2009;89(2):123–131.
  • Beyenburg S, Zierz S, Jerusalem F. Inclusion body myositis: clinical and histopathological features of 36 patients. Clin Investig. 1993;71(5):351–361.
  • Sayers ME, Chou SM, Calabrese LH. Inclusion body myositis: analysis of 32 cases. J Rheumatol. 1992; Sep. 19(9):1385–1389.
  • Greenberg SA. Inclusion body myositis. Continuum (Minneap Minn). 2016;22(6, Muscle and Neuromuscular Junction Disorders):1871–1888.
  • Badrising UA, Maat-Schieman ML, van Houwelingen JC, et al. Inclusion body myositis. Clinical features and clinical course of the disease in 64 patients. J Neurol. 2005;252(12):1448–1454. Dec.
  • Needham M, James I, Corbett A, et al. Sporadic inclusion body myositis: phenotypic variability and influence of HLA-DR3 in a cohort of 57 Australian cases. J Neurol Neurosurg Psychiatry. 2008; 79(9):1056–1060.
  • Larue S, Maisonobe T, Benveniste O, et al. Distal muscle involvement in granulomatous myositis can mimic inclusion body myositis. J Neurol Neurosurg Psychiatry. 2011; 82(6):674–677.
  • Brady S, Squier W, Sewry C, et al. A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis. BMJ Open. 2014;4(4):e004552.
  • Mendell JR, Sahenk Z, Gales T, et al. Amyloid filaments in inclusion body myositis. Novel findings provide insight into nature of filaments. Arch Neurol. 1991;48(12):1229–1234.
  • Greenberg SA, Pinkus GS, Amato AA, Pinkus JL. Myeloid dendritic cells in inclusion-body myositis and polymyositis. Muscle Nerve. 2007; 35(1):17–23.
  • van der Meulen MF, Hoogendijk JE, Moons KG, et al. Rimmed vacuoles and the added value of SMI-31 staining in diagnosing sporadic inclusion body myositis. Neuromuscul Disord. 2001; 11(5):447–451.
  • Udd B. Distal myopathies-new genetic entities expand diagnostic challenge. Neuromuscul Disord. 2012;22(1):5–12.
  • Nishino I, Carrillo-Carrasco N, Argov Z. GNE myopathy: current update and future therapy. J Neurol Neurosurg Psychiatry. 2015;86(4):385–392.
  • Guinto JB, Ritson GP, Taylor JP, et al. Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. Acta Neuropathol. 2007;114(1):55–61.
  • Roda RH, Schindler AB, Blackstone C, et al. Laing distal myopathy pathologically resembling inclusion body myositis. Ann Clin Transl Neurol. 2014;1(12):1053–1058.
  • Alhammad RM, Liewluck T. Myopathies featuring non-caseating granulomas: Sarcoidosis, inclusion body myositis and an unfolding overlap. Neuromuscul Disord. 2019;29(1):39–47.
  • Amlani A, Choi MY, Tarnopolsky M, et al. Anti-NT5c1A Autoantibodies as Biomarkers in Inclusion Body Myositis. Front Immunol. 2019; 10:745.
  • Greenberg SA, Pinkus JL, Amato AA, et al. Association of inclusion body myositis with T cell large granular lymphocytic leukaemia. Brain. 2016;139(5):1348–1360.
  • Buzkova J, Nikkanen J, Ahola S, et al. Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers. EMBO Mol Med. 2018;10(12):29.
  • Dahlbom K, Geijer M, Oldfors A, et al. Association between muscle strength, histopathology, and magnetic resonance imaging in sporadic inclusion body myositis. Acta Neurol Scand. 2019;139(2):177–182.
  • Tasca G, Monforte M, De Fino C, et al. Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis. Muscle Nerve. 2015;52(6):956–962. Dec
  • Maetzler W, Reimold M, Schittenhelm J, et al. Increased [11C]PIB-PET levels in inclusion body myositis are indicative of amyloid beta deposition. J Neurol Neurosurg Psychiatry. 2011;82(9):1060–1062. Sep
  • Lilleker JB, Hodgson R, Roberts M, et al. [18F]Florbetapir positron emission tomography: identification of muscle amyloid in inclusion body myositis and differentiation from polymyositis. Ann Rheum Dis. 2019;78(5):657–662.
  • Rothwell S, Cooper RG, Lundberg IE, et al. Dense genotyping of immunerelated loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. Ann Rheum Dis. 2016;75(8):1558–1566.
  • Raychaudhuri S, Sandor C, Stahl EA, et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Genet. 2012;44(3):291–296.
  • Goyette P, Boucher G, Mallon D, et al. High-density mapping of the MHC identifies a shared role for HLA-DRB1∗01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis. Nat Genet. 2015;47(2):172–179.
  • Gang Q, Bettencourt C, Machado P, et al. Sporadic inclusion body myositis: the genetic contributions to the pathogenesis. Orphanet J Rare Dis. 2014;9(1):88.
  • Larman HB, Salajegheh M, Nazareno R, et al. Cytosolic 5′-nucleotidase 1A autoimmunity in sporadic inclusion body myositis. Ann Neurol. 2013;73(3):408–418.
  • Weihl CC, Baloh RH, Lee Y, et al. Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis. Neuromuscul Disord. 2015;25(4):289–296.
  • Gang Q, Bettencourt C, Machado PM, et al. Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiol Aging. 2016; 47:218.e1–218–218.e9. e9.
  • Güttsches AK, Brady S, Krause K, et al. Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis. Ann Neurol. 2017;81(2):227–239.
  • Johari M, Arumilli M, Palmio J, et al. Association study reveals novel risk loci for sporadic inclusion body myositis. Eur J Neurol. 2017;24(4):572–577.
  • Ahmed M, Machado PM, Miller A, et al. Targeting protein homeostasis in sporadic inclusion body myositis. Sci Transl Med. 2016;8(331):331ra41–331ra41.
  • Rygiel KA, Miller J, Grady JP, et al. Mitochondrial and inflammatory changes in sporadic inclusion body myositis. Neuropathol Appl Neurobiol. 2015;41(3):288–303.
  • Lindgren U, Roos S, Hedberg Oldfors C, et al. Mitochondrial pathology in inclusion body myositis. Neuromuscul Disord. 2015;25(4):281–288.
  • Oldfors A, Larsson NG, Lindberg C, et al. Mitochondrial DNA deletions in inclusion body myositis. Brain. 1993;116(2):325–336.
  • Moslemi A-R, Lindberg C, Oldfors A. Analysis of multiple mitochondrial DNA deletions in inclusion body myositis. Hum Mutat. 1997;10(5):381–386.
  • Rygiel KA, Tuppen HA, Grady JP, et al. Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis. Nucleic Acids Res. 2016;44(11):5313–5329.
  • Catalán-García M, Garrabou G, Morén C, et al. Mitochondrial DNA disturbances and deregulated expression of oxidative phosphorylation and mitochondrial fusion proteins in sporadic inclusion body myositis. Clin Sci. 2016;130(19):1741–1751.
  • Cherin P, Pelletier S, Teixeira A, et al. Intravenous immunoglobulin for dysphagia of inclusion body myositis. Neurology. 2002;58(2):326–326.
  • Rutkove SB, Parker RA, Nardin RA, et al. A pilot randomized trial of oxandrolone in inclusion body myositis. Neurology. 2002;58(7):1081–1087.
  • Amato AA, Sivakumar K, Goyal N, et al. Treatment of sporadic inclusion body myositis with bimagrumab. Neurology. 2014;83(24):2239–2246.
  • Lloyd TE, Mammen AL, Amato AA, et al. Evaluation and construction of diagnostic criteria for inclusion body myositis. Neurology. 2014;83(5):426–433.
  • Rose MR, 188th ENMC International Workshop. Inclusion body myositis, 2–4 December 2011, Naarden, The Netherlands. Neuromuscular Disord, 2013;23(12), 1044–1055.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.