메뉴 건너뛰기




Volumn 10, Issue 1, 2009, Pages 27-34

Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation

Author keywords

Frontotemporal dementia; Frontotemporal lobar degeneration; Progranulin; TDP 43; Ubiquitin

Indexed keywords

PROGRANULIN; TAR DNA BINDING PROTEIN; UBIQUITIN;

EID: 58649105333     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0155-z     Document Type: Article
Times cited : (13)

References (35)
  • 1
    • 2642584710 scopus 로고    scopus 로고
    • Epidemiology of frontotemporal lobar degeneration
    • doi:10.1159/000077151
    • M Ikeda T Ishikawa H Tanabe 2004 Epidemiology of frontotemporal lobar degeneration Dement Geriatr Cogn Disord 17 265 268 doi:10.1159/000077151
    • (2004) Dement Geriatr Cogn Disord , vol.17 , pp. 265-268
    • Ikeda, M.1    Ishikawa, T.2    Tanabe, H.3
  • 2
  • 3
    • 0031949084 scopus 로고    scopus 로고
    • Frontotemporal dementia and Parkinsonism linked to chromosome 17: A new group of tauopathies
    • MG Spillantini TD Bird B Ghetti 1998 Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies Brain Pathol 8 387 402
    • (1998) Brain Pathol , vol.8 , pp. 387-402
    • Spillantini, M.G.1    Bird, T.D.2    Ghetti, B.3
  • 5
    • 7744220605 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration
    • doi:10.1007/s00401-004-0900-9
    • AM Lipton CL White 3rd EH Bigio 2004 Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration Acta Neuropathol 108 379 385 doi:10.1007/s00401-004- 0900-9
    • (2004) Acta Neuropathol , vol.108 , pp. 379-385
    • Lipton, A.M.1    White III, C.L.2    Bigio, E.H.3
  • 6
    • 33749632259 scopus 로고    scopus 로고
    • Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • doi:10.1126/science.1134108
    • M Neumann DM Sampathu LK Kwong AC Truax MC Micsenyi TT Chou 2006 Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Science 314 130 133 doi:10.1126/science.1134108
    • (2006) Science , vol.314 , pp. 130-133
    • Neumann, M.1    Sampathu, D.M.2    Kwong, L.K.3    Truax, A.C.4    Micsenyi, M.C.5    Chou, T.T.6
  • 9
    • 0041320789 scopus 로고    scopus 로고
    • Frontotemporal dementia in the Netherlands: Patient characteristics and prevalence estimates from a population-based study
    • doi:10.1093/brain/awg204
    • SM Rosso L Donker Kaat T Baks M Joosse I de Koning Y Pijnenburg 2003 Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study Brain 126 2016 2022 doi:10.1093/brain/awg204
    • (2003) Brain , vol.126 , pp. 2016-2022
    • Rosso, S.M.1    Donker Kaat, L.2    Baks, T.3    Joosse, M.4    De Koning, I.5    Pijnenburg, Y.6
  • 10
    • 0032543684 scopus 로고    scopus 로고
    • Association of missense and 5-splice-site mutations in tau with the inherited dementia FTDP-17
    • doi:10.1038/31508
    • M Hutton CL Lendon P Rizzu M Baker S Froelich H Houlden 1998 Association of missense and 5-splice-site mutations in tau with the inherited dementia FTDP-17 Nature 393 702 705 doi:10.1038/31508
    • (1998) Nature , vol.393 , pp. 702-705
    • Hutton, M.1    Lendon, C.L.2    Rizzu, P.3    Baker, M.4    Froelich, S.5    Houlden, H.6
  • 11
    • 14444284106 scopus 로고    scopus 로고
    • Tau is a candidate gene for chromosome 17 frontotemporal dementia
    • doi:10.1002/ana.410430617
    • P Poorkaj TD Bird E Wijsman E Nemens RM Garruto L Anderson 1998 Tau is a candidate gene for chromosome 17 frontotemporal dementia Ann Neurol 43 815 825 doi:10.1002/ana.410430617
    • (1998) Ann Neurol , vol.43 , pp. 815-825
    • Poorkaj, P.1    Bird, T.D.2    Wijsman, E.3    Nemens, E.4    Garruto, R.M.5    Anderson, L.6
  • 12
    • 0032560487 scopus 로고    scopus 로고
    • Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
    • doi:10.1073/pnas.95.13.7737
    • MG Spillantini JR Murrell M Goedert MR Farlow A Klug B Ghetti 1998 Mutation in the tau gene in familial multiple system tauopathy with presenile dementia Proc Natl Acad Sci U S A 95 7737 7741 doi:10.1073/pnas.95.13.7737
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 7737-7741
    • Spillantini, M.G.1    Murrell, J.R.2    Goedert, M.3    Farlow, M.R.4    Klug, A.5    Ghetti, B.6
  • 13
    • 0030983011 scopus 로고    scopus 로고
    • Chromosome 17 and hereditary dementia: Linkage studies in three non-Alzheimer families and kindreds with late-onset FAD
    • TD Bird EM Wijsman D Nochlin M Leehey SM Sumi H Payami 1997 Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD Neurology 48 949 954
    • (1997) Neurology , vol.48 , pp. 949-954
    • Bird, T.D.1    Wijsman, E.M.2    Nochlin, D.3    Leehey, M.4    Sumi, S.M.5    Payami, H.6
  • 14
    • 0030757803 scopus 로고    scopus 로고
    • Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21
    • S Froelich H Basun C Forsell L Lilius K Axelman A Andreadis 1997 Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21 Am J Med Genet 74 380 385
    • (1997) Am J Med Genet , vol.74 , pp. 380-385
    • Froelich, S.1    Basun, H.2    Forsell, C.3    Lilius, L.4    Axelman, K.5    Andreadis, A.6
  • 15
  • 17
    • 0034784189 scopus 로고    scopus 로고
    • Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22
    • doi:10.1093/brain/124.10.1948
    • SM Rosso W Kamphorst B de Graaf R Willemsen R Ravid MF Niermeijer 2001 Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22 Brain 124 1948 1957 doi:10.1093/brain/124.10.1948
    • (2001) Brain , vol.124 , pp. 1948-1957
    • Rosso, S.M.1    Kamphorst, W.2    De Graaf, B.3    Willemsen, R.4    Ravid, R.5    Niermeijer, M.F.6
  • 18
    • 12244259054 scopus 로고    scopus 로고
    • Tau negative frontal lobe dementia at 17q21: Significant finemapping of the candidate region to a 4.8 cM interval
    • doi:10.1038/sj.mp.4001198
    • R Rademakers M Cruts B Dermaut K Sleegers SM Rosso M Van den Broeck 2002 Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval Mol Psychiatry 7 1064 1074 doi:10.1038/sj.mp.4001198
    • (2002) Mol Psychiatry , vol.7 , pp. 1064-1074
    • Rademakers, R.1    Cruts, M.2    Dermaut, B.3    Sleegers, K.4    Rosso, S.M.5    Van Den Broeck, M.6
  • 19
    • 33645072728 scopus 로고    scopus 로고
    • A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17
    • doi:10.1093/brain/awh724
    • IR Mackenzie M Baker G West J Woulfe N Qadi J Gass 2006 A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17 Brain 129 853 867 doi:10.1093/brain/awh724
    • (2006) Brain , vol.129 , pp. 853-867
    • MacKenzie, I.R.1    Baker, M.2    West, G.3    Woulfe, J.4    Qadi, N.5    Gass, J.6
  • 20
    • 33645089933 scopus 로고    scopus 로고
    • A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD
    • doi:10.1093/brain/awl029
    • J van der Zee R Rademakers S Engelborghs I Gijselinck V Bogaerts R Vandenberghe 2006 A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD Brain 129 841 852 doi:10.1093/brain/awl029
    • (2006) Brain , vol.129 , pp. 841-852
    • Van Der Zee, J.1    Rademakers, R.2    Engelborghs, S.3    Gijselinck, I.4    Bogaerts, V.5    Vandenberghe, R.6
  • 21
    • 34447096691 scopus 로고    scopus 로고
    • Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: Consensus of the Consortium for Frontotemporal Lobar Degeneration
    • doi:10.1007/s00401-007-0237-2
    • NJ Cairns EH Bigio IR Mackenzie M Neumann VM Lee KJ Hatanpaa 2007 Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration Acta Neuropathol 114 5 22 doi:10.1007/s00401-007-0237-2
    • (2007) Acta Neuropathol , vol.114 , pp. 5-22
    • Cairns, N.J.1    Bigio, E.H.2    MacKenzie, I.R.3    Neumann, M.4    Lee, V.M.5    Hatanpaa, K.J.6
  • 22
    • 33746919083 scopus 로고    scopus 로고
    • Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
    • doi:10.1038/nature05016
    • M Baker IR Mackenzie SM Pickering-Brown J Gass R Rademakers C Lindholm 2006 Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 Nature 442 916 919 doi:10.1038/nature05016
    • (2006) Nature , vol.442 , pp. 916-919
    • Baker, M.1    MacKenzie, I.R.2    Pickering-Brown, S.M.3    Gass, J.4    Rademakers, R.5    Lindholm, C.6
  • 23
    • 33746910649 scopus 로고    scopus 로고
    • Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
    • doi:10.1038/nature05017
    • M Cruts I Gijselinck J van der Zee S Engelborghs H Wils D Pirici 2006 Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 Nature 442 920 924 doi:10.1038/nature05017
    • (2006) Nature , vol.442 , pp. 920-924
    • Cruts, M.1    Gijselinck, I.2    Van Der Zee, J.3    Engelborghs, S.4    Wils, H.5    Pirici, D.6
  • 24
    • 0026580016 scopus 로고
    • Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains
    • doi:10.1073/pnas.89.5.1715
    • V Bhandari RG Palfree A Bateman 1992 Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains Proc Natl Acad Sci U S A 89 1715 1719 doi:10.1073/pnas.89.5. 1715
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 1715-1719
    • Bhandari, V.1    Palfree, R.G.2    Bateman, A.3
  • 25
    • 0242320195 scopus 로고    scopus 로고
    • Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis
    • doi:10.1007/s00109-003-0474-3
    • Z He A Bateman 2003 Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis J Mol Med 81 600 612 doi:10.1007/s00109-003-0474-3
    • (2003) J Mol Med , vol.81 , pp. 600-612
    • He, Z.1    Bateman, A.2
  • 26
    • 42049087853 scopus 로고    scopus 로고
    • Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival
    • doi:10.1083/jcb.200712039
    • P Van Damme A Van Hoecke D Lambrechts P Vanacker E Bogaert J van Swieten 2008 Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival J Cell Biol 181 37 41 doi:10.1083/jcb.200712039
    • (2008) J Cell Biol , vol.181 , pp. 37-41
    • Van Damme, P.1    Van Hoecke, A.2    Lambrechts, D.3    Vanacker, P.4    Bogaert, E.5    Van Swieten, J.6
  • 27
    • 17344379687 scopus 로고    scopus 로고
    • Clinical characteristics of a chromosome 17-linked rapidly progressive familial frontotemporal dementia
    • H Basun O Almkvist K Axelman A Brun TA Campbell J Collinge 1997 Clinical characteristics of a chromosome 17-linked rapidly progressive familial frontotemporal dementia Arch Neurol 54 539 544
    • (1997) Arch Neurol , vol.54 , pp. 539-544
    • Basun, H.1    Almkvist, O.2    Axelman, K.3    Brun, A.4    Campbell, T.A.5    Collinge, J.6
  • 28
    • 42249085980 scopus 로고    scopus 로고
    • Refining frontotemporal dementia with parkinsonism linked to chromosome 17: Introducing FTDP-17 (MAPT) and FTDP-17 (PGRN)
    • doi:10.1001/archneur.65.4.460
    • BF Boeve M Hutton 2008 Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN) Arch Neurol 65 460 464 doi:10.1001/archneur.65.4.460
    • (2008) Arch Neurol , vol.65 , pp. 460-464
    • Boeve, B.F.1    Hutton, M.2
  • 29
    • 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 TT Chou M Micsenyi A Truax 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 doi:10.2353/ajpath.2006. 060438
    • (2006) Am J Pathol , vol.169 , pp. 1343-1352
    • Sampathu, D.M.1    Neumann, M.2    Kwong, L.K.3    Chou, T.T.4    Micsenyi, M.5    Truax, A.6
  • 30
    • 33749668518 scopus 로고    scopus 로고
    • Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: Classification and relation to clinical phenotype
    • doi:10.1007/s00401-006-0138-9
    • IR Mackenzie A Baborie S Pickering-Brown D Du Plessis E Jaros RH Perry 2006 Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype Acta Neuropathol 112 539 549 doi:10.1007/s00401-006-0138-9
    • (2006) Acta Neuropathol , vol.112 , pp. 539-549
    • MacKenzie, I.R.1    Baborie, A.2    Pickering-Brown, S.3    Du Plessis, D.4    Jaros, E.5    Perry, R.H.6
  • 31
    • 41249089087 scopus 로고    scopus 로고
    • Loss of progranulin function in frontotemporal lobar degeneration
    • Cruts M, Van Broeckhoven C (2008) Loss of progranulin function in frontotemporal lobar degeneration. Trends Genet 24:186-194
    • (2008) Trends Genet , vol.24 , pp. 186-194
    • Cruts, M.1    Van Broeckhoven, C.2
  • 32
    • 34249658365 scopus 로고    scopus 로고
    • A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology
    • doi:10.1093/brain/awm069
    • JB Leverenz CE Yu TJ Montine E Steinbart LM Bekris C Zabetian 2007 A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology Brain 130 1360 1374 doi:10.1093/brain/awm069
    • (2007) Brain , vol.130 , pp. 1360-1374
    • Leverenz, J.B.1    Yu, C.E.2    Montine, T.J.3    Steinbart, E.4    Bekris, L.M.5    Zabetian, C.6
  • 33
    • 33746224027 scopus 로고    scopus 로고
    • Applying nonsense-mediated mRNA decay research to the clinic: Progress and challenges
    • doi:10.1016/j.molmed.2006.05.005
    • HA Kuzmiak LE Maquat 2006 Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges Trends Mol Med 12 306 316 doi:10.1016/j.molmed.2006.05.005
    • (2006) Trends Mol Med , vol.12 , pp. 306-316
    • Kuzmiak, H.A.1    Maquat, L.E.2
  • 34
    • 33749568019 scopus 로고    scopus 로고
    • Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
    • doi:10.1093/hmg/ddl241
    • J Gass A Cannon IR Mackenzie B Boeve M Baker J Adamson 2006 Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration Hum Mol Genet 15 2988 3001 doi:10.1093/hmg/ddl241
    • (2006) Hum Mol Genet , vol.15 , pp. 2988-3001
    • Gass, J.1    Cannon, A.2    MacKenzie, I.R.3    Boeve, B.4    Baker, M.5    Adamson, J.6
  • 35
    • 39749141572 scopus 로고    scopus 로고
    • A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series
    • doi:10.1093/brain/awm320
    • J Beck JD Rohrer T Campbell A Isaacs KE Morrison EF Goodall 2008 A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series Brain 131 706 720 doi:10.1093/brain/awm320
    • (2008) Brain , vol.131 , pp. 706-720
    • Beck, J.1    Rohrer, J.D.2    Campbell, T.3    Isaacs, A.4    Morrison, K.E.5    Goodall, E.F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.