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Volumn 61, Issue 11, 2009, Pages 1285-1291

Clinical, pathological, and genetic characteristics of frontotemporal dementia and Parkinsonism linked to chromosome 17 with mutations in the MAPT and PGRN

Author keywords

Clinical phenotype; Frontotemporal dementia and parkinsonism linked to chromosome 17; Pathology; Progranulin mutation; Tau mutation

Indexed keywords

PROGRANULIN; TAU PROTEIN; UBIQUITIN;

EID: 72049099376     PISSN: 18816096     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (4)

References (38)
  • 1
    • 0030977392 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference
    • DOI 10.1002/ana.410410606
    • Foster NL, Wilhelmsen K, Sima AA, Jones MZ, D'Amato CJ, et al: Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants. Ann Neurol 41: 706-715, 1997 (Pubitemid 27249175)
    • (1997) Annals of Neurology , vol.41 , Issue.6 , pp. 706-715
    • Foster, N.L.1    Wilhelmsen, K.2    Sima, A.A.F.3    Jones, M.Z.4    D'Amato, C.J.5    Gilman, S.6
  • 10
    • 0026775551 scopus 로고
    • Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-pontonigral degeneration
    • Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, et al: Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-pontonigral degeneration. Ann Neurol 32: 312-320, 1992
    • (1992) Ann Neurol , vol.32 , pp. 312-320
    • Wszolek, Z.K.1    Pfeiffer, R.F.2    Bhatt, M.H.3    Schelper, R.L.4    Cordes, M.5
  • 11
    • 0032573083 scopus 로고    scopus 로고
    • Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17
    • Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, et al: Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc Natl Acad Sci U S A 95: 13103-13107, 1998
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 13103-13107
    • Clark, L.N.1    Poorkaj, P.2    Wszolek, Z.3    Geschwind, D.H.4    Nasreddine, Z.S.5
  • 13
    • 0035412946 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): PPND family. A longitudinal videotape demonstration
    • Wszolek ZK, Kardon RH, Wolters EC, Pfeiffer RF: Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): PPND family. A longitudinal videotape demonstration. Mov Disord 16: 756-760, 2001
    • (2001) Mov Disord , vol.16 , pp. 756-760
    • Wszolek, Z.K.1    Kardon, R.H.2    Wolters, E.C.3    Pfeiffer, R.F.4
  • 19
    • 51449089054 scopus 로고    scopus 로고
    • Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
    • van Swieten JC, Heutink P: Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol 7: 965-974, 2008
    • (2008) Lancet Neurol , vol.7 , pp. 965-974
    • Van Swieten, J.C.1    Heutink, P.2
  • 20
    • 60949099072 scopus 로고    scopus 로고
    • Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide
    • Benussi L, Ghidoni R, Pegoiani E, Moretti DV, Zanetti O, et al: Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide. Neurobiol Dis 33: 379-385, 2009
    • (2009) Neurobiol Dis , vol.33 , pp. 379-385
    • Benussi, L.1    Ghidoni, R.2    Pegoiani, E.3    Moretti, D.V.4    Zanetti, O.5
  • 22
    • 42249085980 scopus 로고    scopus 로고
    • Refining frontotemporal dementia with parkinsonism linked to chromosome 17: Introducing FTDP-17 (MAPT) and FTDP-17 (PGRN)
    • Boeve BF, Hutton M: Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). Arch Neurol 65: 460-464, 2008
    • (2008) Arch Neurol , vol.65 , pp. 460-464
    • Boeve, B.F.1    Hutton, M.2
  • 24
    • 33750599059 scopus 로고    scopus 로고
    • Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia
    • DOI 10.1093/brain/awl267
    • Snowden JS, Pickering-Brown SM, Mackenzie IR, Richardson AM, Varma A, et al: Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. Brain 129: 3091-3102, 2006 (Pubitemid 44684528)
    • (2006) Brain , vol.129 , Issue.11 , pp. 3091-3102
    • Snowden, J.S.1    Pickering-Brown, S.M.2    Mackenzie, I.R.3    Richardson, A.M.T.4    Varma, A.5    Neary, D.6    Mann, D.M.A.7
  • 27
    • 34447096691 scopus 로고    scopus 로고
    • Consortium for Frontotemporal Lobar Degeneration: Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration
    • Cairns NJ, Bigio EH, Mackenzie IR, Neumann M, Lee VM, et al; Consortium for Frontotemporal Lobar Degeneration: Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol 114: 5-22, 2007
    • (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
  • 31
    • 34249658365 scopus 로고    scopus 로고
    • A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology
    • Leverenz JB, Yu CE, Montine TJ, Steinbart E, Bekris LM: A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. Brain 130: 1360-1374, 2007
    • (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
  • 33
    • 34447097449 scopus 로고    scopus 로고
    • The neuropathology and clinical phenotype of FTD with progranulin mutations
    • Mackenzie IR: The neuropathology and clinical phenotype of FTD with progranulin mutations. Acta Neuropathol 114: 49-54, 2007
    • (2007) Acta Neuropathol , vol.114 , pp. 49-54
    • Mackenzie, I.R.1
  • 35
    • 0034764622 scopus 로고    scopus 로고
    • Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease
    • Work Group on Frontotemporal Dementia and Pick's Disease
    • McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, et al; Work Group on Frontotemporal Dementia and Pick's Disease: Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol 58: 1803-1809, 2001
    • (2001) Arch Neurol , vol.58 , pp. 1803-1809
    • McKhann, G.M.1    Albert, M.S.2    Grossman, M.3    Miller, B.4    Dickson, D.5
  • 36
    • 0028223015 scopus 로고
    • Clinical and neuropathological criteria for frontotemporal dementia
    • The Lund and Manchester Groups
    • The Lund and Manchester Groups: Clinical and neuropathological criteria for frontotemporal dementia. J Neurol Neurosurg Psychiatry 57: 416-418, 1994
    • (1994) J Neurol Neurosurg Psychiatry , vol.57 , pp. 416-418
  • 37
    • 0023202914 scopus 로고
    • Frontal lobe degeneration of non-Alzheimer type. I. Neuropathology
    • Brun A: Frontal lobe degeneration of non-Alzheimer type. I. Neuropathology. Arch Gerontol Geriatr 6: 193-208, 1987
    • (1987) Arch Gerontol Geriatr , vol.6 , pp. 193-208
    • Brun, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.