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2014 | 10 | 1 |
Tytuł artykułu

Inclusion body myositis – pathomechanism and lessons from genetics

Treść / Zawartość
Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
Inclusion body myositis is a rare, late-onset myopathy. Both inflammatory and myodegenerative features play an important role in their pathogenesis. Overlapping clinicopathological entities are the familial inclusion body myopathies with or without dementia. These myopathies share several clinical and pathological features with the sporadic inflammatory disease. Therefore, better understanding of the genetic basis and pathomechanism of these rare familial cases may advance our knowledge and enable more effective treatment options in sporadic IBM, which is currently considered a relentlessly progressive incurable disease.
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Wydawca

Czasopismo
Rocznik
Tom
10
Numer
1
Opis fizyczny
Daty
otrzymano
2014-02-18
zaakceptowano
2015-01-30
online
2015-02-26
Twórcy
  • Division of Neuropathology,
    Institute of Pathology
  • Institute
    of Internal Medicine, Third Department of Internal Medicine,
    Division of Clinical Immunology
  • Institute
    of Internal Medicine, Third Department of Internal Medicine,
    Division of Clinical Immunology
  • Institute
    of Internal Medicine, Third Department of Internal Medicine,
    Division of Clinical Immunology
  • Division of Neuropathology,
    Institute of Pathology
autor
  • Department of Neurology, University of Debrecen,
    Faculty of Medicine, Debrecen, Hungary
  • Division of Neuropathology,
    Institute of Pathology
  • Institute
    of Internal Medicine, Third Department of Internal Medicine,
    Division of Clinical Immunology
  • University of Debrecen,
    Faculty of Medicine, Institute of Pathology, Division of Neuropathology,
    4032 Debrecen, Nagyerdei krt. 98. Tel.: + 36 52 255-248;
    e-mail: tibor.hortobagyi@kcl.ac.uk
Bibliografia
  • [1] Dalakas, M.C., Sporadic inclusion body myositis – diagnosis,pathogenesis and therapeutic strategies. Nat Clin Pract Neurol,2006. 2: p. 437-447[Crossref]
  • [2] Munshi, S.K., et al., Inclusion body myositis: an underdiagnosedmyopathy of older people. Age Ageing, 2006. 35: p.91-94[Crossref]
  • [3] Bodoki, L., et al., [Inclusion body myositis.] Ideggy Szle, 2015.68: p. 59-67
  • [4] Bodoki, L., et al., Inclusion body myositis – a case basedclinicopathological update. Cent Eur J Med, 2014 9: p. 80-85[WoS]
  • [5] Greenberg, S.A., Inclusion body myositis. Curr Opin Rheumatol,2011. 23: p. 574-578[WoS][Crossref]
  • [6] Needham, M., et al., Genetics of inclusion-body myositis.Muscle Nerve, 2007. 35: p. 549-561[Crossref][WoS]
  • [7] Koffman, B.M., et al., HLA allele distribution distinguishessporadic inclusion body myositis from hereditary inclusionbody myopathies. J Neuroimmunol, 1998. 84: p. 139-142[Crossref]
  • [8] Cai, H., et al., Clinical, pathological, and genetic mutationanalysis of sporadic inclusion body myositis in Japanesepeople. J Neurol, 2012. 259: p. 1913-1922[WoS]
  • [9] Mastaglia, F.L., Sporadic inclusion body myositis: variabilityin prevalence and phenotype and influence of the MHC. ActaMyol, 2009. 28: p. 66-71
  • [10] Rojana-Udomsart, A., et al., Analysis of HLA-DRB3 alleles andsupertypical genotypes in the MHC Class II region in sporadicinclusion body myositis. J Neuroimmunol, 2013. 254: p. 174-177
  • [11] Broccolini, A., et al., Hereditary inclusion-body myopathy withsparing of the quadriceps: the many tiles of an incompletepuzzle. Acta Myol, 2011. 30: p. 91-95
  • [12] Fischer, C., et al., Cell stress molecules in the skeletal muscleof GNE myopathy. BMC Neurol, 2013. 13: p. 24-24[Crossref][WoS]
  • [13] Boyden, S.E., et al., Molecular diagnosis of hereditary inclusionbody myopathy by linkage analysis and identification of a novelsplice site mutation in GNE. BMC Medical Genetics, 2011. 12[WoS][Crossref]
  • [14] Greenberg, S.A., Theories of the pathogenesis of inclusionbody myositis. Curr Rheumatol Rep, 2010. 12: p. 221-228[Crossref]
  • [15] Askanas, V., et al., Sporadic inclusion-body myositis:conformational multifactorial ageing-related degenerativemuscle disease associated with proteasomal and lysosomalinhibition, endoplasmic reticulum stress, and accumulation ofamyloid-β42 oligomers and phosphorylated tau. Presse Med,2011. 40: p. 219-235
  • [16] Weihl, C.C., et al., Sporadic inclusion body myositis: possiblepathogenesis inferred from biomarkers. Curr Opin Neurol,2010. 23: p. 482-488[WoS][Crossref]
  • [17] Yamashita, S., et al., Optineurin is potentially associated withTDP-43 and involved in the pathogenesis of inclusion bodymyositis. Neuropathol Appl Neurobiol, 2013. 39: p. 406-416[WoS][Crossref]
  • [18] Hortobagyi, T., et al., Optineurin inclusions occur in aminority of TDP-43 positive ALS and FTLD-TDP cases and arerarely observed in other neurodegenerative disorders. ActaNeuropathol, 2011. 121: p. 519-527[Crossref][WoS]
  • [19] Ivanidze, J., et al., Inclusion body myositis: lasermicrodissection reveals differential up-regulation of IFN-γsignaling cascade in attacked versus nonattacked myofibers.Am J Pathol, 2011. 179: p. 1347-1359[WoS]
  • [20] Salajegheh, M., et al., Autoantibodies against a 43 KDa muscleprotein in inclusion body myositis. PLoS One, 2011. 6[WoS]
  • [21] Quick, A., et al., Mechanisms of action of intravenous immunoglobulinin inflammatory muscle disease. Curr Rheumatol Rep,2011. 13: p. 192-198[WoS][Crossref]
  • [22] Kierdaszuk, B., et al., Inclusion body myositis: therapeuticapproaches. A case report. Neurol Neurochir Pol, 2011. 45: p.68-73
  • [23] Lloyd, T.E., Novel therapeutic approaches for inclusion bodymyositis. Curr Opin Rheumatol, 2010. 22: p. 658-664[Crossref][WoS]
  • [24] Barca, E., et al., ANT1 is reduced in sporadic inclusion bodymyositis. Neurol Sci, 2013. 34: p. 217-224[Crossref]
  • [25] Dalakas, M.C., et al., Effect of Alemtuzumab (CAMPATH 1-H)in patients with inclusion-body myositis. Brain, 2009. 132: p.1536-1544[WoS]
  • [26] Benveniste, O., et al., International Workshop on InclusionBody Myositis held at the Institute of Myology, Paris, on 29 May2009. Neuromuscular Disorders, 2010. 20: p. 414-421
  • [27] Sancricca, C., et al., Pilot trial of simvastatin in the treatment ofsporadic inclusion-body myositis. Neurological Sciences, 2011.32: p. 841-847[Crossref][WoS]
  • [28] Alexanderson, H., Exercise in inflammatory myopathies,including inclusion body myositis. Curr Rheumatol Rep, 2012.14: p. 244-251[Crossref][WoS]
  • [29] Cox, F.M., et al., A 12-year follow-up in sporadic inclusion bodymyositis: an end stage with major disabilities. Brain, 2011. 134:p. 3167-3175[WoS]
  • [30] Fanganiello, R.D., et al., A Brazilian family with hereditaryinclusion body myopathy associated with Paget disease ofbone and frontotemporal dementia. Braz J Med Biol Res, 2011.44: p. 374-380[Crossref][WoS]
  • [31] Greenberg, S.A., et al., Nuclear localization of valosincontainingprotein in normal muscle and muscle affected byinclusion-body myositis. Muscle Nerve, 2007. 36: p. 447-454[Crossref]
  • [32] Kimonis, V.E., et al., VCP disease associated with myopathy,Paget disease of bone and frontotemporal dementia: reviewof a unique disorder. Biochim Biophys Acta, 2008. 1782: p.744-748[WoS]
  • [33] Weihl, C.C., et al., Valosin-containing protein disease: inclusionbody myopathy with Paget’s disease of the bone and frontotemporaldementia. Neuromuscul Disord, 2009. 19: p. 308-315[Crossref]
  • [34] Kimonis, V.E., et al., Clinical studies in familial VCP myopathyassociated with Paget disease of bone and frontotemporaldementia. Am J Med Genet A, 2008. 146A: p. 745-757[WoS]
  • [35] Mackenzie, I.R.A., et al., Nomenclature and nosologyfor neuropathologic subtypes of frontotemporal lobardegeneration: an update. Acta Neuropathol, 2010. 119: p. 1-4[WoS][Crossref]
  • [36] Strong, M., et al., Amyotrophic lateral sclerosis, Primary lateralsclerosis and Spinal muscular atrophy, in Neurodegeneration:The molecular pathology of dementia and movement disorders,Dickson DW, et al., Editors. 2011, Wiley-Blackwell.
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.-psjd-doi-10_1515_med-2015-0030
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