메뉴 건너뛰기




Volumn 119, Issue 7, 2012, Pages 851-860

Clinical phenotypes and genetic biomarkers of FTLD

Author keywords

Behavioural variant front temporal dementia; Biomarker; Frontotemporal lobar degeneration; Genetics; Primary progressive aphasia

Indexed keywords

BIOLOGICAL MARKER; C9ORF72 PROTEIN; CHROMATIN MODIFYING 2B; PROGRANULIN; TAR DNA BINDING PROTEIN; TAU PROTEIN; UNCLASSIFIED DRUG; VALOSIN CONTAINING PROTEIN;

EID: 84863461863     PISSN: 03009564     EISSN: 14351463     Source Type: Journal    
DOI: 10.1007/s00702-012-0804-0     Document Type: Review
Times cited : (15)

References (100)
  • 7
    • 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 (2008) Refining frontotemporal dementia with Parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). Arch Neurol 65:460-464
    • (2008) Arch Neurol , vol.65 , pp. 460-464
    • Boeve, B.F.1    Hutton, M.2
  • 9
    • 0039575094 scopus 로고    scopus 로고
    • Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick's disease
    • Buée L, Delacourte A (1999) Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick's disease. Brain Pathol 9:681-693
    • (1999) Brain Pathol , vol.9 , pp. 681-693
    • Buée, L.1    Delacourte, A.2
  • 12
    • 84455193367 scopus 로고    scopus 로고
    • From genotype to phenotype: Two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder
    • Cerami C, Marcone A, Galimberti D, Villa C, Scarpini E, Cappa SF (2011) From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder. J Alzheimers Dis 27:791-797
    • (2011) J Alzheimers Dis , vol.27 , pp. 791-797
    • Cerami, C.1    Marcone, A.2    Galimberti, D.3    Villa, C.4    Scarpini, E.5    Cappa, S.F.6
  • 15
    • 69949101455 scopus 로고    scopus 로고
    • Development of MRI rating scale for multiple brain regions: Comparison with volumetrics and with voxelbased morphometry
    • Davies RR, Scahill VL, Graham A, Williams GB, Graham KS, Hodges JR (2009) Development of MRI rating scale for multiple brain regions: comparison with volumetrics and with voxelbased morphometry. Neuroradiology 51:491-503
    • (2009) Neuroradiology , vol.51 , pp. 491-503
    • Davies, R.R.1    Scahill, V.L.2    Graham, A.3    Williams, G.B.4    Graham, K.S.5    Hodges, J.R.6
  • 25
    • 54449085260 scopus 로고    scopus 로고
    • Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration
    • Ghidoni R, Benussi L, Glionna M, Franzoni M, Binetti G (2008) Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology 71:1235-1239
    • (2008) Neurology , vol.71 , pp. 1235-1239
    • Ghidoni, R.1    Benussi, L.2    Glionna, M.3    Franzoni, M.4    Binetti, G.5
  • 26
    • 11144258263 scopus 로고    scopus 로고
    • Mutations causing neurodegenerative tauopathies
    • Goedert M, Jakes R (2005) Mutations causing neurodegenerative tauopathies. Biochim Biophys Acta 1739:240-250
    • (2005) Biochim Biophys Acta , vol.1739 , pp. 240-250
    • Goedert, M.1    Jakes, R.2
  • 27
    • 0024745894 scopus 로고
    • Multiple isoforms of human microtubule-associated protein tau: Sequences and localization in neurofibrillary tangles of Alzheimer's disease
    • Goedert M, Spillantini MG, Jakes R, Rutherford D, Crowther RA (1989) Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. Neuron 3:519-526
    • (1989) Neuron , vol.3 , pp. 519-526
    • Goedert, M.1    Spillantini, M.G.2    Jakes, R.3    Rutherford, D.4    Crowther, R.A.5
  • 32
    • 0033534519 scopus 로고    scopus 로고
    • Increased tau in the cerebrospinal fluid of patients with frontotemporal dementia and Alzheimer's disease
    • Green AJE, Harvey RJ, Thompson EJ, Rossor MN (1999) Increased tau in the cerebrospinal fluid of patients with frontotemporal dementia and Alzheimer's disease. Neurosci Lett 259:133-135
    • (1999) Neurosci Lett , vol.259 , pp. 133-135
    • Green, A.J.E.1    Harvey, R.J.2    Thompson, E.J.3    Rossor, M.N.4
  • 34
    • 0242320195 scopus 로고    scopus 로고
    • Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis
    • He Z, Bateman A (2003) Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis. J Mol Med 81:600-612
    • (2003) J Mol Med , vol.81 , pp. 600-612
    • He, Z.1    Bateman, A.2
  • 37
    • 1942440928 scopus 로고    scopus 로고
    • Non-Alzheimer's disease dementias: Anatomic, clinical, and molecular correlates
    • Hou CE, Carlin D, Miller BL (2004) Non-Alzheimer's disease dementias: anatomic, clinical, and molecular correlates. Can J Psychiatry 49:164-171
    • (2004) Can J Psychiatry , vol.49 , pp. 164-171
    • Hou, C.E.1    Carlin, D.2    Miller, B.L.3
  • 40
    • 0036892302 scopus 로고    scopus 로고
    • Tau gene mutations: Dissecting the pathogenesis of FTDP-17
    • Ingram EM, Spillantini MG (2002) Tau gene mutations: dissecting the pathogenesis of FTDP-17. Trends Mol Med 8:555-562
    • (2002) Trends Mol Med , vol.8 , pp. 555-562
    • Ingram, E.M.1    Spillantini, M.G.2
  • 44
    • 56449111307 scopus 로고    scopus 로고
    • VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder
    • Kimonis VE, Fulchiero E, Vesa J, Watts G (2008) VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. Biochim Biophys Acta 1782:744-748
    • (2008) Biochim Biophys Acta , vol.1782 , pp. 744-748
    • Kimonis, V.E.1    Fulchiero, E.2    Vesa, J.3    Watts, G.4
  • 45
    • 71549115516 scopus 로고    scopus 로고
    • Combined magnetic resonance imaging and positron emission tomography brain imaging in behavioural variant frontotemporal degeneration: Refining the clinical phenotype
    • Kipps CM, Hodges JR, Fryer TD, Nestor PJ (2009) Combined magnetic resonance imaging and positron emission tomography brain imaging in behavioural variant frontotemporal degeneration: refining the clinical phenotype. Brain 132:2566-2578
    • (2009) Brain , vol.132 , pp. 2566-2578
    • Kipps, C.M.1    Hodges, J.R.2    Fryer, T.D.3    Nestor, P.J.4
  • 46
    • 84860389481 scopus 로고    scopus 로고
    • Progranulin and TDP-43: Mechanistic links and future directions
    • Kumar-Singh S (2011) Progranulin and TDP-43: mechanistic links and future directions. J Mol Neurosci 45(3):561-573
    • (2011) J Mol Neurosci , vol.45 , Issue.3 , pp. 561-573
    • Kumar-Singh, S.1
  • 58
    • 33746156427 scopus 로고    scopus 로고
    • Relationship between antisocial behaviour and regional cerebral blood flow in frontotemporal dementia
    • Nakano S, Asada T, Yamashita F, Kitamura N, Matsuda H, Hirai S, Yamada T (2006) Relationship between antisocial behaviour and regional cerebral blood flow in frontotemporal dementia. Neuroimage 32:301-306
    • (2006) Neuroimage , vol.32 , pp. 301-306
    • Nakano, S.1    Asada, T.2    Yamashita, F.3    Kitamura, N.4    Matsuda, H.5    Hirai, S.6    Yamada, T.7
  • 62
    • 77649252528 scopus 로고    scopus 로고
    • Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis
    • Pesiridis G, Lee VMY, Trojanowski JQ (2009) Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis. Hum Mol Gen 18:R156-R162
    • (2009) Hum Mol Gen , vol.18
    • Pesiridis, G.1    Lee, V.M.Y.2    Trojanowski, J.Q.3
  • 64
    • 34447108549 scopus 로고    scopus 로고
    • The complex aetiology of frontotemporal lobar degeneration
    • Pickering-Brown SM (2007) The complex aetiology of frontotemporal lobar degeneration. Exp Neurol 114:39-47
    • (2007) Exp Neurol , vol.114 , pp. 39-47
    • Pickering-Brown, S.M.1
  • 69
    • 5044235577 scopus 로고    scopus 로고
    • The role of tau (MAPT) in frontotemporal dementia and related tauopathies
    • Rademakers R, Cruts M, van Broeckhoven C (2004) The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum Mutat 24:277-295
    • (2004) Hum Mutat , vol.24 , pp. 277-295
    • Rademakers, R.1    Cruts, M.2    Van Broeckhoven, C.3
  • 71
    • 15044355712 scopus 로고    scopus 로고
    • Patterns of cognitive and emotional empathy in frontotemporal lobar degeneration
    • Rankin KP, Kramer JH, Miller BL (2005) Patterns of cognitive and emotional empathy in frontotemporal lobar degeneration. Cogn Behav Neurol 18:28-36
    • (2005) Cogn Behav Neurol , vol.18 , pp. 28-36
    • Rankin, K.P.1    Kramer, J.H.2    Miller, B.L.3
  • 80
    • 0042922481 scopus 로고    scopus 로고
    • Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301 and G272 tau mutations
    • Rosso SM, van Herpen E, Pijnenburg YA, Schoonenboom NS, Scheltens P, Heutink P, van Swieten JC (2003) Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301 and G272 tau mutations. Arch Neurol 60:1209-1213
    • (2003) Arch Neurol , vol.60 , pp. 1209-1213
    • Rosso, S.M.1    Van Herpen, E.2    Pijnenburg, Y.A.3    Schoonenboom, N.S.4    Scheltens, P.5    Heutink, P.6    Van Swieten, J.C.7
  • 90
    • 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 (2008) Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurol 7:965-974
    • (2008) Lancet Neurol , vol.7 , pp. 965-974
    • Van Swieten, J.C.1    Heutink, P.2
  • 91
    • 33847194237 scopus 로고    scopus 로고
    • Hereditary frontotemporal dementia caused by Tau gene mutations
    • van Swieten J, Spillantini MG (2007) Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathol 17: 63-73
    • (2007) Brain Pathol , vol.17 , pp. 63-73
    • Van Swieten, J.1    Spillantini, M.G.2
  • 94
    • 1842483843 scopus 로고    scopus 로고
    • Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin containing protein
    • Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE (2004) Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin containing protein. Nat Genet 36:377-381
    • (2004) Nat Genet , vol.36 , pp. 377-381
    • Watts, G.D.1    Wymer, J.2    Kovach, M.J.3    Mehta, S.G.4    Mumm, S.5    Darvish, D.6    Pestronk, A.7    Whyte, M.P.8    Kimonis, V.E.9
  • 98
    • 33750313480 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration with ubiquitin pathology: An autopsy case presenting with semantic dementia and upper motor neuron signs with a clinical course of 19 years
    • Yokota O, Tsuchiya K, Itoh Y, Ishizu H, Akiyama H, Ikeda M, Kuzuhara S, Otomo E (2006) Frontotemporal lobar degeneration with ubiquitin pathology: an autopsy case presenting with semantic dementia and upper motor neuron signs with a clinical course of 19 years. Acta Neuropathol 112(6):739-749
    • (2006) Acta Neuropathol , vol.112 , Issue.6 , pp. 739-749
    • Yokota, O.1    Tsuchiya, K.2    Itoh, Y.3    Ishizu, H.4    Akiyama, H.5    Ikeda, M.6    Kuzuhara, S.7    Otomo, E.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.