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Volumn 122, Issue 6, 2011, Pages 691-702

P62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

Author keywords

C9orf72; FTLD; MND ALS; p62; TDP43

Indexed keywords

ALPHA INTERNEXIN; ALPHA SYNUCLEIN; FUSED IN SARCOMA PROTEIN; NEUROFILAMENT PROTEIN; PROTEIN; PROTEIN P62; TAR DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

EID: 82355180826     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-011-0911-2     Document Type: Article
Times cited : (407)

References (34)
  • 1
    • 47549094635 scopus 로고    scopus 로고
    • Staging of neurofibrillary pathology in Alzheimer's disease: A study of the BrainNet Europe Consortium
    • 18371174
    • I Alafuzoff T Arzberger S Al-Sarraj, et al. 2008 Staging of neurofibrillary pathology in Alzheimer's disease: a study of the BrainNet Europe Consortium Brain Pathol 18 484 496 18371174
    • (2008) Brain Pathol , vol.18 , pp. 484-496
    • Alafuzoff, I.1    Arzberger, T.2    Al-Sarraj, S.3
  • 3
    • 0031918640 scopus 로고    scopus 로고
    • Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: Correlation between the density of inclusions and IT15 CAG triplet repeat length
    • DOI 10.1006/nbdi.1998.0168
    • MW Becher JA Kotzuk AH Sharp, et al. 1998 Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length Neurobiol Dis 4 387 397 9666478 10.1006/nbdi.1998.0168 1:CAS:528:DyaK1cXjtFSqurs%3D (Pubitemid 28201657)
    • (1998) Neurobiology of Disease , vol.4 , Issue.6 , pp. 387-397
    • Becher, M.W.1    Kotzuk, J.A.2    Sharp, A.H.3    Davies, S.W.4    Bates, G.P.5    Price, D.L.6    Ross, C.A.7
  • 5
    • 78751478222 scopus 로고    scopus 로고
    • Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
    • 20562461 10.1136/jnnp.2009.204081
    • AL Boxer IR Mackenzie BF Boeve, et al. 2010 Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family J Neurol Neurosurg Psychiatry 82 196 203 20562461 10.1136/jnnp.2009.204081
    • (2010) J Neurol Neurosurg Psychiatry , vol.82 , pp. 196-203
    • Boxer, A.L.1    MacKenzie, I.R.2    Boeve, B.F.3
  • 8
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
    • 21944778 10.1016/j.neuron.2011.09.011 1:CAS:528:DC%2BC3MXhtlKrtL%2FP
    • M Dejesus-Hernandez IR Mackenzie BF Boeve, et al. 2011 Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS Neuron 72 245 256 21944778 10.1016/j.neuron.2011.09.011 1:CAS:528:DC%2BC3MXhtlKrtL%2FP
    • (2011) Neuron , vol.72 , pp. 245-256
    • Dejesus-Hernandez, M.1    MacKenzie, I.R.2    Boeve, B.F.3
  • 9
    • 80052580969 scopus 로고    scopus 로고
    • Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
    • 21857683 10.1038/nature10353 1:CAS:528:DC%2BC3MXhtFOlsLnM
    • HX Deng W Chen ST Hong, et al. 2011 Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia Nature 477 211 215 21857683 10.1038/nature10353 1:CAS:528:DC%2BC3MXhtFOlsLnM
    • (2011) Nature , vol.477 , pp. 211-215
    • Deng, H.X.1    Chen, W.2    Hong, S.T.3
  • 11
    • 0030512464 scopus 로고    scopus 로고
    • Motor neurone disease-inclusion dementia
    • DOI 10.1006/neur.1996.0046
    • M Jackson G Lennox J Lowe 1996 Motor neurone disease-inclusion dementia Neurodegeneration 5 339 350 9117546 10.1006/neur.1996.0046 1:STN:280: DyaK2s7nvFGltA%3D%3D (Pubitemid 27077893)
    • (1996) Neurodegeneration , vol.5 , Issue.4 , pp. 339-350
    • Jackson, M.1    Lennox, G.2    Lowe, J.3
  • 12
    • 78649941297 scopus 로고    scopus 로고
    • Exome sequencing reveals VCP mutations as a cause of familial ALS
    • 21145000 10.1016/j.neuron.2010.11.036 1:CAS:528:DC%2BC3cXhsFGhu73J
    • JO Johnson J Mandrioli M Benatar, et al. 2010 Exome sequencing reveals VCP mutations as a cause of familial ALS Neuron 68 857 864 21145000 10.1016/j.neuron.2010.11.036 1:CAS:528:DC%2BC3cXhsFGhu73J
    • (2010) Neuron , vol.68 , pp. 857-864
    • Johnson, J.O.1    Mandrioli, J.2    Benatar, M.3
  • 13
    • 67651243804 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration with ubiquitinated tau-negative inclusions and additional alpha-synuclein pathology but also unusual cerebellar ubiquitinated p62-positive, TDP-43-negative inclusions
    • 18715271 10.1111/j.1440-1789.2008.00966.x
    • A King S Al-Sarraj C Shaw 2009 Frontotemporal lobar degeneration with ubiquitinated tau-negative inclusions and additional alpha-synuclein pathology but also unusual cerebellar ubiquitinated p62-positive, TDP-43-negative inclusions Neuropathology 29 466 471 18715271 10.1111/j.1440-1789.2008.00966.x
    • (2009) Neuropathology , vol.29 , pp. 466-471
    • King, A.1    Al-Sarraj, S.2    Shaw, C.3
  • 14
    • 79957562827 scopus 로고    scopus 로고
    • Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43
    • 21118398 10.1111/j.1440-1789.2010.01171.x
    • A King S Maekawa I Bodi, et al. 2011 Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43 Neuropathology 31 239 249 21118398 10.1111/j.1440-1789.2010.01171.x
    • (2011) Neuropathology , vol.31 , pp. 239-249
    • King, A.1    Maekawa, S.2    Bodi, I.3
  • 15
    • 77956876046 scopus 로고    scopus 로고
    • Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: A genome-wide association study
    • 20801718 10.1016/S1474-4422(10)70184-8 1:CAS:528:DC%2BC3cXhtFOntbvE
    • H Laaksovirta T Peuralinna JC Schymick, et al. 2010 Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study Lancet Neurol 9 978 985 20801718 10.1016/S1474-4422(10)70184-8 1:CAS:528: DC%2BC3cXhtFOntbvE
    • (2010) Lancet Neurol , vol.9 , pp. 978-985
    • Laaksovirta, H.1    Peuralinna, T.2    Schymick, J.C.3
  • 16
    • 0023823645 scopus 로고
    • Ubiquitin deposits in anterior horn cells in motor neurone disease
    • 2853844 10.1016/0304-3940(88)90081-X 1:CAS:528:DyaL1MXitFylsA%3D%3D
    • PN Leigh BH Anderton A Dodson, et al. 1988 Ubiquitin deposits in anterior horn cells in motor neurone disease Neurosci Lett 93 197 203 2853844 10.1016/0304-3940(88)90081-X 1:CAS:528:DyaL1MXitFylsA%3D%3D
    • (1988) Neurosci Lett , vol.93 , pp. 197-203
    • Leigh, P.N.1    Anderton, B.H.2    Dodson, A.3
  • 17
    • 0023738162 scopus 로고
    • A filamentous inclusion body within anterior horn neurones in motor neurone disease defined by immunocytochemical localisation of ubiquitin
    • 2853853 10.1016/0304-3940(88)90296-0 1:STN:280:DyaL1M3gtFGhtw%3D%3D
    • J Lowe G Lennox D Jefferson, et al. 1988 A filamentous inclusion body within anterior horn neurones in motor neurone disease defined by immunocytochemical localisation of ubiquitin Neurosci Lett 94 203 210 2853853 10.1016/0304-3940(88)90296-0 1:STN:280:DyaL1M3gtFGhtw%3D%3D
    • (1988) Neurosci Lett , vol.94 , pp. 203-210
    • Lowe, J.1    Lennox, G.2    Jefferson, D.3
  • 18
    • 34447097449 scopus 로고    scopus 로고
    • The neuropathology and clinical phenotype of FTD with progranulin mutations
    • DOI 10.1007/s00401-007-0223-8
    • IR Mackenzie 2007 The neuropathology and clinical phenotype of FTD with progranulin mutations Acta Neuropathol 114 49 54 17458552 10.1007/s00401-007- 0223-8 (Pubitemid 47029059)
    • (2007) Acta Neuropathologica , vol.114 , Issue.1 , pp. 49-54
    • Mackenzie, I.R.A.1
  • 20
    • 77649187519 scopus 로고    scopus 로고
    • Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: An update
    • 19924424 10.1007/s00401-009-0612-2
    • IR Mackenzie M Neumann EH Bigio, et al. 2010 Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update Acta Neuropathol 119 1 4 19924424 10.1007/s00401-009-0612-2
    • (2010) Acta Neuropathol , vol.119 , pp. 1-4
    • MacKenzie, I.R.1    Neumann, M.2    Bigio, E.H.3
  • 21
    • 70449698510 scopus 로고    scopus 로고
    • TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations
    • 19496940 10.1111/j.1440-1789.2009.01029.x
    • S Maekawa PN Leigh A King, et al. 2009 TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations Neuropathology 29 672 683 19496940 10.1111/j.1440-1789. 2009.01029.x
    • (2009) Neuropathology , vol.29 , pp. 672-683
    • Maekawa, S.1    Leigh, P.N.2    King, A.3
  • 22
    • 77952419246 scopus 로고    scopus 로고
    • Mutations of optineurin in amyotrophic lateral sclerosis
    • 20428114 10.1038/nature08971 1:CAS:528:DC%2BC3cXltlWmtr8%3D
    • H Maruyama H Morino H Ito, et al. 2010 Mutations of optineurin in amyotrophic lateral sclerosis Nature 465 223 226 20428114 10.1038/nature08971 1:CAS:528:DC%2BC3cXltlWmtr8%3D
    • (2010) Nature , vol.465 , pp. 223-226
    • Maruyama, H.1    Morino, H.2    Ito, H.3
  • 26
    • 41949141411 scopus 로고    scopus 로고
    • Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry
    • DOI 10.1097/NEN.0b013e31816a1da2, PII 0000507220080400000003
    • M Pikkarainen P Hartikainen I Alafuzoff 2008 Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry J Neuropathol Exp Neurol 67 280 298 18379439 10.1097/NEN.0b013e31816a1da2 (Pubitemid 351507484)
    • (2008) Journal of Neuropathology and Experimental Neurology , vol.67 , Issue.4 , pp. 280-298
    • Pikkarainen, M.1    Hartikainen, P.2    Alafuzoff, I.3
  • 27
    • 80054837386 scopus 로고    scopus 로고
    • A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
    • 21944779 10.1016/j.neuron.2011.09.010 1:CAS:528:DC%2BC3MXhtlKrtL%2FI
    • AE Renton E Majounie A Waite, et al. 2011 A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD Neuron 72 257 268 21944779 10.1016/j.neuron.2011.09.010 1:CAS:528:DC%2BC3MXhtlKrtL%2FI
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3
  • 28
    • 33846076379 scopus 로고    scopus 로고
    • Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies
    • DOI 10.2353/ajpath.2006.060438
    • DM Sampathu M Neumann LK Kwong, et al. 2006 Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies Am J Pathol 169 1343 1352 17003490 10.2353/ajpath.2006.060438 1:CAS:528:DC%2BD28XhtFeitLbJ (Pubitemid 351194368)
    • (2006) American Journal of Pathology , vol.169 , Issue.4 , pp. 1343-1352
    • Sampathu, D.M.1    Neumann, M.2    Kwong, L.K.3    Chou, T.T.4    Micsenyi, M.5    Truax, A.6    Bruce, J.7    Grossman, M.8    Trojanowski, J.Q.9    Lee, V.M.-Y.10
  • 29
    • 77956877621 scopus 로고    scopus 로고
    • Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: A genome-wide association study
    • 20801717 10.1016/S1474-4422(10)70197-6 1:CAS:528:DC%2BC3cXhtFOntbjM
    • A Shatunov K Mok S Newhouse, et al. 2010 Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study Lancet Neurol 9 986 994 20801717 10.1016/S1474-4422(10)70197- 6 1:CAS:528:DC%2BC3cXhtFOntbjM
    • (2010) Lancet Neurol , vol.9 , pp. 986-994
    • Shatunov, A.1    Mok, K.2    Newhouse, S.3
  • 31
    • 77950529265 scopus 로고    scopus 로고
    • RNA-mediated neurodegeneration in repeat expansion disorders
    • 20373340 10.1001/archneurol.2010.3 1:CAS:528:DC%2BC3cXlsFSlt7w%3D
    • PK Todd HL Paulson 2010 RNA-mediated neurodegeneration in repeat expansion disorders Ann Neurol 67 291 300 20373340 10.1001/archneurol.2010.3 1:CAS:528:DC%2BC3cXlsFSlt7w%3D
    • (2010) Ann Neurol , vol.67 , pp. 291-300
    • Todd, P.K.1    Paulson, H.L.2
  • 32
    • 77649136250 scopus 로고    scopus 로고
    • Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
    • 20154673 10.1038/ng.536
    • VM Van Deerlin PM Sleiman M Martinez-Lage, et al. 2010 Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions Nat Genet 42 234 239 20154673 10.1038/ng.536
    • (2010) Nat Genet , vol.42 , pp. 234-239
    • Van Deerlin, V.M.1    Sleiman, P.M.2    Martinez-Lage, M.3
  • 33
    • 33645069660 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3
    • 16495328 10.1093/brain/awl030
    • C Vance A Al-Chalabi D Ruddy, et al. 2006 Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3 Brain 129 868 876 16495328 10.1093/brain/awl030
    • (2006) Brain , vol.129 , pp. 868-876
    • Vance, C.1    Al-Chalabi, A.2    Ruddy, D.3


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