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Volumn APR, Issue , 2012, Pages

Genetics of frontotemporal lobar degeneration

Author keywords

Autosomal dominant; Frontotemporal lobar degeneration; Genetics; Mutation; Risk factor

Indexed keywords


EID: 84865835301     PISSN: None     EISSN: 16642295     Source Type: Journal    
DOI: 10.3389/fneur.2012.00052     Document Type: Article
Times cited : (28)

References (76)
  • 7
    • 0039575094 scopus 로고    scopus 로고
    • Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick's disease
    • Buee, L, and 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
    • Buee, L.1    Delacourte, A.2
  • 9
    • 70350618915 scopus 로고    scopus 로고
    • Progranulin plasma levels as potential bio-marker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic mild cognitive impairment converted to Alzheimer's disease
    • Carecchio, M., Fenoglio, C, De Riz, M., Guidi, I., Comi, C, Cortini, E, Ven-turelli, E., Restelli, I., Cantoni, C, Bresolin, N., Monaco, F., Scarpini, E., and Galimberti, D. (2009). Progranulin plasma levels as potential bio-marker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic mild cognitive impairment converted to Alzheimer's disease. J. Neurol. Sci. 287, 291-293.
    • (2009) J. Neurol. Sci. , vol.287 , pp. 291-293
    • Carecchio, M.1    Fenoglio, C.2    De Riz, M.3    Guidi, I.4    Comi, C.5    Cortini, E.6    Ven-turelli, E.7    Restelli, I.8    Cantoni, C.9    Bresolin, N.10    Monaco, F.11    Scarpini, E.12    Galimberti, D.13
  • 10
    • 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., and Cappa, S. F. (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
    • 0035072923 scopus 로고    scopus 로고
    • Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations
    • Fabre, S. E, Forsell, C, Viitanen, M., Sjogren, M., Wallin, A., Blennow, K., Blomberg, M., Andersen, C, Wahlund, L. O., and Lannfelt, L. (2001). Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations. Exp. Neurol 168, 413-418.
    • (2001) Exp. Neurol , vol.168 , pp. 413-418
    • Fabre, S.E.1    Forsell, C.2    Viitanen, M.3    Sjogren, M.4    Wallin, A.5    Blennow, K.6    Blomberg, M.7    Andersen, C.8    Wahlund, L.O.9    Lannfelt, L.10
  • 21
    • 0031597685 scopus 로고    scopus 로고
    • The apolipoprotein E epsilon4 allele is not a significant risk factor for frontotemporal dementia
    • Geschwind, D., Karrim, I., Nelson, S. E, and Miller, B. (1998). The apolipoprotein E epsilon4 allele is not a significant risk factor for frontotemporal dementia. Ann. Neurol. 44, 134-138.
    • (1998) Ann. Neurol. , vol.44 , pp. 134-138
    • Geschwind, D.1    Karrim, I.2    Nelson, S.E.3    Miller, B.4
  • 22
    • 54449085260 scopus 로고    scopus 로고
    • Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration
    • Ghidoni, R., Benussi, L., Glionna, M., Franzoni, M., and 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
  • 24
    • 11144258263 scopus 로고    scopus 로고
    • Mutations causing neurodegenerative tauopathies
    • Goedert, M., and 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
  • 25
    • 0024745894 scopus 로고
    • Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neu-rofibrillary tangles of Alzheimer's disease
    • Goedert, M., Spillantini, M. G., Jakes, R., Rutherford, D., and Crowther, R. A. (1989). Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neu-rofibrillary 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
  • 30
    • 0242320195 scopus 로고    scopus 로고
    • Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis
    • He, Z., and 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
  • 34
    • 1942440928 scopus 로고    scopus 로고
    • Non-Alzheimer's disease dementias: anatomic, clinical, and molecular correlates
    • Hou, C. E., Carlin, D., and Miller, B. L. (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
  • 36
    • 56449111307 scopus 로고    scopus 로고
    • VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of aunique disorder
    • Kimonis, V. E., Fulchiero, E., Vesa, J., and Watts, G. (2008). VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of aunique 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
  • 42
    • 77649252528 scopus 로고    scopus 로고
    • Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis
    • Pesiridis, G., Lee, V. M. Y., and Tro-janowski, J. Q. (2009). Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis. Hum. Mol. Genet. 18, R156-R162.
    • (2009) Hum. Mol. Genet. , vol.18
    • Pesiridis, G.1    Lee, V.M.Y.2    Tro-janowski, J.Q.3
  • 43
    • 34447108549 scopus 로고    scopus 로고
    • The complex aetiology of frontotempo-ral lobar degeneration
    • Pickering-Brown, S. M. (2007). The complex aetiology of frontotempo-ral lobar degeneration. Exp. Neurol. 114, 39-47.
    • (2007) Exp. Neurol. , vol.114 , pp. 39-47
    • Pickering-Brown, S.M.1
  • 48
    • 5044235577 scopus 로고    scopus 로고
    • The role of tau (MAPT) in frontotemporal dementia and related tauopathies
    • Rademakers, R., Cruts, M., and 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
  • 56
    • 29144489408 scopus 로고    scopus 로고
    • Progressive, isolated language disturbance: its significance in a 65-year-old-man. A case report with implications for treatment and review of literature
    • Scarpini, E., Galimberti, D., Guidi, I., Bresolin, N., and Scheltens, P. (2006). Progressive, isolated language disturbance: its significance in a 65-year-old-man. A case report with implications for treatment and review of literature. J. Neurol. Sci. 240, 45-51.
    • (2006) J. Neurol. Sci. , vol.240 , pp. 45-51
    • Scarpini, E.1    Galimberti, D.2    Guidi, I.3    Bresolin, N.4    Scheltens, P.5
  • 57
    • 0036219387 scopus 로고    scopus 로고
    • Differences in tau and apolipoprotein E polymorphism frequencies in sporadic frontotemporal lobar degeneration syndromes
    • Short, R. A., Graff-Radford, N. R., Adamson, J., Baker, M., and Hutton, M. (2002). Differences in tau and apolipoprotein E polymorphism frequencies in sporadic frontotemporal lobar degeneration syndromes. Arch. Neurol. 59, 611-615.
    • (2002) Arch. Neurol. , vol.59 , pp. 611-615
    • Short, R.A.1    Graff-Radford, N.R.2    Adamson, J.3    Baker, M.4    Hutton, M.5
  • 59
    • 0036160338 scopus 로고    scopus 로고
    • Frontotemporal dementia. Br.]
    • Snowden, J. S., Neary, D., and Mann, D. M. (2002). Frontotemporal dementia. Br. ]. Psychiatry 180, 140-143.
    • (2002) Psychiatry , vol.180 , pp. 140-143
    • Snowden, J.S.1    Neary, D.2    Mann, D.M.3
  • 60
    • 33750599059 scopus 로고    scopus 로고
    • Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia
    • Snowden, J. S., Pickering-Brown, S. M., Mackenzie, I. R., Richardson, A. M., Varma, A., Neary, D., and Mann, D. M. (2006). Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia. Brain 129, 3091-3102.
    • (2006) Brain , vol.129 , pp. 3091-3102
    • Snowden, J.S.1    Pickering-Brown, S.M.2    Mackenzie, I.R.3    Richardson, A.M.4    Varma, A.5    Neary, D.6    Mann, D.M.7
  • 73
    • 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, G. D., Wymer, J., Kovach, M. J., Mehta, S. G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M. P., and Kimonis, V E. (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
  • 74
    • 0142139311 scopus 로고    scopus 로고
    • Tau protein in familial and sporadic diseases
    • Yancopoulou, D., and Spillantini, M. G. (2003). Tau protein in familial and sporadic diseases. Neuromolec-ularMed. 4, 37-48.
    • (2003) Neuromolec-ularMed. , vol.4 , pp. 37-48
    • Yancopoulou, D.1    Spillantini, M.G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.