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Volumn 60, Issue 3, 2006, Pages 275-277

Frontotemporal dementia, chromosome 17, and progranulin

Author keywords

[No Author keywords available]

Indexed keywords

PROGRANULIN; TAU PROTEIN;

EID: 33749493778     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20962     Document Type: Editorial
Times cited : (6)

References (36)
  • 1
    • 33749499157 scopus 로고    scopus 로고
    • HDDD2 is a familial frontotemporal lobar degeneration with Ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin
    • Mukherjee O, Pastor PN, Cairns NJ, et al. HDDD2 is a familial frontotemporal lobar degeneration with Ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Ann Neurol 2006;60:314-322.
    • (2006) Ann Neurol , vol.60 , pp. 314-322
    • Mukherjee, O.1    Pastor, P.N.2    Cairns, N.J.3
  • 2
    • 33746910649 scopus 로고    scopus 로고
    • Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
    • in press
    • Cruts M, Gijselinck I, van der Zee J, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006 (in press).
    • (2006) Nature
    • Cruts, M.1    Gijselinck, I.2    Van Der Zee, J.3
  • 3
    • 33746919083 scopus 로고    scopus 로고
    • Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
    • in press
    • Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006 (in press).
    • (2006) Nature
    • Baker, M.1    Mackenzie, I.R.2    Pickering-Brown, S.M.3
  • 5
    • 0023202914 scopus 로고
    • Frontal lobe degeneration of non-Alzheimer type. 1. Neuropathology
    • Brun A. Frontal lobe degeneration of non-Alzheimer type. 1. Neuropathology. Arch Gerontol Geriatr 1987;6:193-208.
    • (1987) Arch Gerontol Geriatr , vol.6 , pp. 193-208
    • Brun, A.1
  • 6
    • 15844413737 scopus 로고    scopus 로고
    • Primary lateral sclerosis, hereditary spastic paraplegia, and mutations in the alsin gene: Historical background for the first international conference
    • Rowland LP. Primary lateral sclerosis, hereditary spastic paraplegia, and mutations in the alsin gene: historical background for the first international conference. Amyotroph Lateral Scler Other Motor Neuron Disord 2005;6:67-76.
    • (2005) Amyotroph Lateral Scler Other Motor Neuron Disord , vol.6 , pp. 67-76
    • Rowland, L.P.1
  • 7
    • 0028223015 scopus 로고
    • Clinical and neuropathological criteria for frontotemporal dementia
    • The Lund and Manchester Groups
    • Brun A, Englund B, Gustafson L, et al. Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups. J Neurol Neurosurg Psychiatry 1994;57:416-418.
    • (1994) J Neurol Neurosurg Psychiatry , vol.57 , pp. 416-418
    • Brun, A.1    Englund, B.2    Gustafson, L.3
  • 8
    • 0030512464 scopus 로고    scopus 로고
    • Motor neurone disease-inclusion dementia
    • Jackson M, Lennox G, Lowe J. Motor neurone disease-inclusion dementia. Neurodegeneration 1996;5:339-350.
    • (1996) Neurodegeneration , vol.5 , pp. 339-350
    • Jackson, M.1    Lennox, G.2    Lowe, J.3
  • 9
    • 0028073692 scopus 로고
    • Localization of dis-inhibtion dementia parkinsonism amyotrophy complex to 17q21-22
    • Wilhelmsen KC, Lynch T, Pavlou E, et al. Localization of dis-inhibtion dementia parkinsonism amyotrophy complex to 17q21-22. Am J Hum Genet 1994;55:1159-1165.
    • (1994) Am J Hum Genet , vol.55 , pp. 1159-1165
    • Wilhelmsen, K.C.1    Lynch, T.2    Pavlou, E.3
  • 10
    • 0030977392 scopus 로고    scopus 로고
    • Frontotemporal dementia and parkinsonism linked to chromosome 17; a consensus conference
    • Foster NI, Wilhelmsen K, Sima AA, et al. Frontotemporal dementia and parkinsonism linked to chromosome 17; a consensus conference. Ann Neurol 1997;41:706-715.
    • (1997) Ann Neurol , vol.41 , pp. 706-715
    • Foster, N.I.1    Wilhelmsen, K.2    Sima, A.A.3
  • 11
    • 0032543684 scopus 로고    scopus 로고
    • Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
    • Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705.
    • (1998) Nature , vol.393 , pp. 702-705
    • Hutton, M.1    Lendon, C.L.2    Rizzu, P.3
  • 12
    • 0032897924 scopus 로고    scopus 로고
    • A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
    • Bird TD, Nochin D, Pookaj P, et al. A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L). Brain 1999;122:741-756.
    • (1999) Brain , vol.122 , pp. 741-756
    • Bird, T.D.1    Nochin, D.2    Pookaj, P.3
  • 13
    • 0032560487 scopus 로고    scopus 로고
    • Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
    • Spillanti MG, Murrell JR, Goedert M, et al. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci U S A 1998;95:7737-7741.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 7737-7741
    • Spillanti, M.G.1    Murrell, J.R.2    Goedert, M.3
  • 14
    • 7344220963 scopus 로고    scopus 로고
    • Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism
    • Dumanchin C, Camuzat A, Campion D, et al. Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. Hum Mol Genet 1998;7:1825-1829.
    • (1998) Hum Mol Genet , vol.7 , pp. 1825-1829
    • Dumanchin, C.1    Camuzat, A.2    Campion, D.3
  • 15
    • 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, 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 1998;95:13103-13107.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 13103-13107
    • Clark, L.N.1    Poorkaj, P.2    Wszolek, Z.3
  • 16
    • 0032920233 scopus 로고    scopus 로고
    • Tau pathology in a family with dementia and a P301L mutation in tau
    • Mirra SS, Murrell JR, Gearing M, et al. Tau pathology in a family with dementia and a P301L mutation in tau. J Neuropathol Exp Neurol 1999;58:335-345.
    • (1999) J Neuropathol Exp Neurol , vol.58 , pp. 335-345
    • Mirra, S.S.1    Murrell, J.R.2    Gearing, M.3
  • 17
    • 27644460461 scopus 로고    scopus 로고
    • Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology
    • Bronner IF, ter Meulen BC, Azmani A, et al. Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology. Brain 2005;128:2645-2653.
    • (2005) Brain , vol.128 , pp. 2645-2653
    • Bronner, I.F.1    Ter Meulen, B.C.2    Azmani, A.3
  • 18
    • 0034764622 scopus 로고    scopus 로고
    • Clinical and pathological diagnosis of frontotemporal dementia. Report of the Work Group on frontotemporal dementia and Pick's disease
    • McKhann GM, Albert MS, Grossman M, et al. Clinical and pathological diagnosis of frontotemporal dementia. Report of the Work Group on frontotemporal dementia and Pick's disease. Arch Neurol 2001;58:1803-1809.
    • (2001) Arch Neurol , vol.58 , pp. 1803-1809
    • McKhann, G.M.1    Albert, M.S.2    Grossman, M.3
  • 19
    • 0034975272 scopus 로고    scopus 로고
    • Frontotemporal dementia (Pick's disease): Clinical features and assessment
    • Hodges JB. Frontotemporal dementia (Pick's disease): clinical features and assessment. Neurology 2001;56(suppl 4):S6-S10.
    • (2001) Neurology , vol.56 , Issue.SUPPL. 4
    • Hodges, J.B.1
  • 20
    • 0034972950 scopus 로고    scopus 로고
    • Pick's disease: A clinical overview
    • Rossor MN. Pick's disease: a clinical overview. Neurology 2001;56(suppl 4):S3-S5.
    • (2001) Neurology , vol.56 , Issue.SUPPL. 4
    • Rossor, M.N.1
  • 21
    • 23644451453 scopus 로고    scopus 로고
    • Frontotemporal dementia, motor neuron disease and tauopathy: Clinical and neuropathological study in a family
    • Martinaud O, Laquerriére A, Guyant-Maréchal L, et al. Frontotemporal dementia, motor neuron disease and tauopathy: clinical and neuropathological study in a family. Acta Neuropathol 2005;110:84-92.
    • (2005) Acta Neuropathol , vol.110 , pp. 84-92
    • Martinaud, O.1    Laquerriére, A.2    Guyant-Maréchal, L.3
  • 22
    • 0034784189 scopus 로고    scopus 로고
    • Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22
    • Rosso SM, Kamphorst W, de Graaf B, et al. Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22. Brain 2001;124:1948-1957.
    • (2001) Brain , vol.124 , pp. 1948-1957
    • Rosso, S.M.1    Kamphorst, W.2    De Graaf, B.3
  • 23
    • 23844441835 scopus 로고    scopus 로고
    • Ubiquitin immunohistochemistry suggests classic motor neuron disease, motor neuron disease with dementia, and frontotemporal dementia of the motor neuron disease type represent a clinicopathologic spectrum
    • Mackenzie IR, Feldman HH. Ubiquitin immunohistochemistry suggests classic motor neuron disease, motor neuron disease with dementia, and frontotemporal dementia of the motor neuron disease type represent a clinicopathologic spectrum. J Neuropathol Exp Neurol 2005;64:730-739.
    • (2005) J Neuropathol Exp Neurol , vol.64 , pp. 730-739
    • Mackenzie, I.R.1    Feldman, H.H.2
  • 24
    • 33645089933 scopus 로고    scopus 로고
    • A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD
    • Van der Zee J, Radermakers R, Engelborghs S, et al. A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. Brain 2006;129:841-852.
    • (2006) Brain , vol.129 , pp. 841-852
    • Van Der Zee, J.1    Radermakers, R.2    Engelborghs, S.3
  • 25
    • 12144288280 scopus 로고    scopus 로고
    • 17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without Tau mutations with tau and α-synuclein inclusions
    • Wilhelmsen KC, Forman MS, Rosen HJ, et al. 17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without Tau mutations with tau and α-synuclein inclusions. Arch Neurol 2004;61:398-406.
    • (2004) Arch Neurol , vol.61 , pp. 398-406
    • Wilhelmsen, K.C.1    Forman, M.S.2    Rosen, H.J.3
  • 27
    • 23844445158 scopus 로고    scopus 로고
    • Clinicopathological features of the tauopathies
    • Murray B, Lynch T, Farrell M. Clinicopathological features of the tauopathies. Biochem Soc Trans 2005;33:595-599.
    • (2005) Biochem Soc Trans , vol.33 , pp. 595-599
    • Murray, B.1    Lynch, T.2    Farrell, M.3
  • 28
    • 11144258263 scopus 로고    scopus 로고
    • Mutations causing neurodegenerative tauopathies
    • Godert M, Jakes R. Mutations causing neurodegenerative tauopathies. Biochem Biophys Acta 2005;1739:240-250.
    • (2005) Biochem Biophys Acta , vol.1739 , pp. 240-250
    • Godert, M.1    Jakes, R.2
  • 29
    • 33744781515 scopus 로고    scopus 로고
    • Frontotemporal dementia: Clinicopathological correlations
    • Forman MS, Farmer J, Johnson JK, et al. Frontotemporal dementia: clinicopathological correlations. Ann Neurol 2006;59:952-962.
    • (2006) Ann Neurol , vol.59 , pp. 952-962
    • Forman, M.S.1    Farmer, J.2    Johnson, J.K.3
  • 30
    • 23044471011 scopus 로고    scopus 로고
    • Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
    • Kibinski G, Parkinson NJ, Brown JM, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005;37:806-808.
    • (2005) Nat Genet , vol.37 , pp. 806-808
    • Kibinski, G.1    Parkinson, N.J.2    Brown, J.M.3
  • 31
    • 33646000253 scopus 로고    scopus 로고
    • CHMP2B mutations are not a common cause of frontotemporal lobar degeneration
    • Cannon A, Baker M, Boeve B, et al. CHMP2B mutations are not a common cause of frontotemporal lobar degeneration. Neurosci Lett 2006;398:83-84.
    • (2006) Neurosci Lett , vol.398 , pp. 83-84
    • Cannon, A.1    Baker, M.2    Boeve, B.3
  • 32
    • 27644549440 scopus 로고    scopus 로고
    • DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex
    • Annesi G, Savertieri G, Pugliese P, et al. DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. Ann Neurol 2005;58:803-807.
    • (2005) Ann Neurol , vol.58 , pp. 803-807
    • Annesi, G.1    Savertieri, G.2    Pugliese, P.3
  • 33
    • 33746693220 scopus 로고    scopus 로고
    • Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutation
    • Forman MS, Mackkenzie IR, Cairns NJ, et al. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutation. J Neuropathol Exp Neurol 2006;65:571-581.
    • (2006) J Neuropathol Exp Neurol , vol.65 , pp. 571-581
    • Forman, M.S.1    Mackkenzie, I.R.2    Cairns, N.J.3
  • 34
    • 11144357241 scopus 로고    scopus 로고
    • A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques
    • Dermaut B, Kumar-Singh S, Engelborghs S, et al. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol 2004;55:617-626.
    • (2004) Ann Neurol , vol.55 , pp. 617-626
    • Dermaut, B.1    Kumar-Singh, S.2    Engelborghs, S.3
  • 35
    • 28644447668 scopus 로고    scopus 로고
    • Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia
    • Li X, Rowland LP, Mitsumoto H, et al. Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. Ann Neurol 2005;58:858-864.
    • (2005) Ann Neurol , vol.58 , pp. 858-864
    • Li, X.1    Rowland, L.P.2    Mitsumoto, H.3
  • 36
    • 0034605478 scopus 로고    scopus 로고
    • Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
    • Hosler BA, Siddique T, Sapp PC, et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA 2000;284:1664-1669.
    • (2000) JAMA , vol.284 , pp. 1664-1669
    • Hosler, B.A.1    Siddique, T.2    Sapp, P.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.