메뉴 건너뛰기




Volumn 19, Issue 1, 2013, Pages 15-20

Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS

(20)  Ogaki, Kotaro a   Li, Yuanzhe a   Takanashi, Masashi a   Ishikawa, Kei Ichi a   Kobayashi, Tomonori b   Nonaka, Takashi c   Hasegawa, Masato c   Kishi, Masahiko d   Yoshino, Hiroyo a   Funayama, Manabu a   Tsukamoto, Tetsuro e   Shioya, Keiichi f   Yokochi, Masayuki g   Imai, Hisamasa a   Sasaki, Ryogen h   Kokubo, Yasumasa h   Kuzuhara, Shigeki i   Motoi, Yumiko a   Tomiyama, Hiroyuki a   Hattori, Nobutaka a  


Author keywords

Abnormal eye movements; C9orf72; De novo; MAPT; PGRN

Indexed keywords

PROGRANULIN; TAU PROTEIN;

EID: 84871512745     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2012.06.019     Document Type: Article
Times cited : (82)

References (31)
  • 1
    • 0032543684 scopus 로고    scopus 로고
    • Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
    • Hutton M., Lendon C.L., Rizzu P., Baker M., Froelich S., Houlden H., 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    Baker, M.4    Froelich, S.5    Houlden, H.6
  • 2
    • 33746919083 scopus 로고    scopus 로고
    • Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
    • Baker M., Mackenzie I.R., Pickering-Brown S.M., Gass J., Rademakers R., Lindholm C., et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006, 442:916-919.
    • (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
  • 3
    • 33746910649 scopus 로고    scopus 로고
    • Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
    • Cruts M., Gijselinck I., van der Zee J., Engelborghs S., Wils H., Pirici D., et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006, 442:920-924.
    • (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
  • 4
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • Dejesus-Hernandez M., Mackenzie I.R., Boeve B.F., Boxer A.L., Baker M., Rutherford N.J., et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72:245-256.
    • (2011) Neuron , vol.72 , pp. 245-256
    • Dejesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3    Boxer, A.L.4    Baker, M.5    Rutherford, N.J.6
  • 5
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-Linked ALS-FTD
    • Renton A.E., Majounie E., Waite A., Simon-Sanchez J., Rollinson S., Gibbs J.R., et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-Linked ALS-FTD. Neuron 2011, 72:257-268.
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3    Simon-Sanchez, J.4    Rollinson, S.5    Gibbs, J.R.6
  • 6
    • 42249085980 scopus 로고    scopus 로고
    • Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN)
    • Boeve B.F., Hutton M. Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). Arch Neurol 2008, 65:460-464.
    • (2008) Arch Neurol , vol.65 , pp. 460-464
    • Boeve, B.F.1    Hutton, M.2
  • 7
    • 82355180849 scopus 로고    scopus 로고
    • Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
    • Murray M.E., Dejesus-Hernandez M., Rutherford N.J., Baker M., Duara R., Graff-Radford N.R., et al. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 2011, 122:673-690.
    • (2011) Acta Neuropathol , vol.122 , pp. 673-690
    • Murray, M.E.1    Dejesus-Hernandez, M.2    Rutherford, N.J.3    Baker, M.4    Duara, R.5    Graff-Radford, N.R.6
  • 8
    • 84874021626 scopus 로고    scopus 로고
    • Corticobasal and ataxia syndromes widen the spectrumof C9ORF72 hexanucleotide expansion disease
    • [Epub ahead of print]
    • Lindquist S., Duno M., Batbayli M., Puschmann A., Braendgaard H., Mardosiene S., et al. Corticobasal and ataxia syndromes widen the spectrumof C9ORF72 hexanucleotide expansion disease. Clin Genetics 2012 May 31, [Epub ahead of print].
    • (2012) Clin Genetics
    • Lindquist, S.1    Duno, M.2    Batbayli, M.3    Puschmann, A.4    Braendgaard, H.5    Mardosiene, S.6
  • 9
    • 0031672540 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria
    • Neary D., Snowden J.S., Gustafson L., Passant U., Stuss D., Black S., et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998, 51:1546-1554.
    • (1998) Neurology , vol.51 , pp. 1546-1554
    • Neary, D.1    Snowden, J.S.2    Gustafson, L.3    Passant, U.4    Stuss, D.5    Black, S.6
  • 10
    • 0020037788 scopus 로고
    • Slowly progressive aphasia without generalized dementia
    • Mesulam M.M. Slowly progressive aphasia without generalized dementia. Ann Neurol 1982, 11:592-598.
    • (1982) Ann Neurol , vol.11 , pp. 592-598
    • Mesulam, M.M.1
  • 11
    • 8944226575 scopus 로고    scopus 로고
    • Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop
    • Litvan I., Agid Y., Calne D., Campbell G., Dubois B., Duvoisin R.C., et al. Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop. Neurology 1996, 47:1-9.
    • (1996) Neurology , vol.47 , pp. 1-9
    • Litvan, I.1    Agid, Y.2    Calne, D.3    Campbell, G.4    Dubois, B.5    Duvoisin, R.C.6
  • 12
    • 0037933407 scopus 로고    scopus 로고
    • Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia
    • Boeve B.F., Lang A.E., Litvan I. Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia. Ann Neurol 2003, 54(Suppl. 5):S15-S19.
    • (2003) Ann Neurol , vol.54 , Issue.SUPPL. 5
    • Boeve, B.F.1    Lang, A.E.2    Litvan, I.3
  • 13
    • 15444356436 scopus 로고    scopus 로고
    • Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22
    • Baker M., Kwok J.B., Kucera S., Crook R., Farrer M., Houlden H., et al. Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22. Ann Neurol 1997, 42:794-798.
    • (1997) Ann Neurol , vol.42 , pp. 794-798
    • Baker, M.1    Kwok, J.B.2    Kucera, S.3    Crook, R.4    Farrer, M.5    Houlden, H.6
  • 14
    • 77954660828 scopus 로고    scopus 로고
    • Analysis of exon dosage using MLPA in South African Parkinson's disease patients
    • Keyser R.J., Lombard D., Veikondis R., Carr J., Bardien S. Analysis of exon dosage using MLPA in South African Parkinson's disease patients. Neurogenetics 2010, 11:305-312.
    • (2010) Neurogenetics , vol.11 , pp. 305-312
    • Keyser, R.J.1    Lombard, D.2    Veikondis, R.3    Carr, J.4    Bardien, S.5
  • 15
    • 0033529304 scopus 로고    scopus 로고
    • Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17
    • Varani L., Hasegawa M., Spillantini M.G., Smith M.J., Murrell J.R., Ghetti B., et al. Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc Natl Acad Sci U S A 1999, 96:8229-8234.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 8229-8234
    • Varani, L.1    Hasegawa, M.2    Spillantini, M.G.3    Smith, M.J.4    Murrell, J.R.5    Ghetti, B.6
  • 16
    • 0037234278 scopus 로고    scopus 로고
    • A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology
    • Kobayashi T., Ota S., Tanaka K., Ito Y., Hasegawa M., Umeda Y., et al. A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. Ann Neurol 2003, 53:133-137.
    • (2003) Ann Neurol , vol.53 , pp. 133-137
    • Kobayashi, T.1    Ota, S.2    Tanaka, K.3    Ito, Y.4    Hasegawa, M.5    Umeda, Y.6
  • 17
    • 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 L.N., Poorkaj P., Wszolek Z., Geschwind D.H., Nasreddine Z.S., Miller B., 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    Geschwind, D.H.4    Nasreddine, Z.S.5    Miller, B.6
  • 18
    • 0033663879 scopus 로고    scopus 로고
    • A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies
    • Spillantini M.G., Yoshida H., Rizzini C., Lantos P.L., Khan N., Rossor M.N., et al. A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies. Ann Neurol 2000, 48:939-943.
    • (2000) Ann Neurol , vol.48 , pp. 939-943
    • Spillantini, M.G.1    Yoshida, H.2    Rizzini, C.3    Lantos, P.L.4    Khan, N.5    Rossor, M.N.6
  • 19
    • 79953281343 scopus 로고    scopus 로고
    • Visual grasping in frontotemporal dementia and parkinsonism linked to chromosome 17 (microtubule-associated with protein tau): a comparison of N-Isopropyl-p-[(123)I]-iodoamphetamine brain perfusion single photon emission computed tomography analysis with progressive supranuclear palsy
    • Ogaki K., Motoi Y., Li Y., Tomiyama H., Shimizu N., Takanashi M., et al. Visual grasping in frontotemporal dementia and parkinsonism linked to chromosome 17 (microtubule-associated with protein tau): a comparison of N-Isopropyl-p-[(123)I]-iodoamphetamine brain perfusion single photon emission computed tomography analysis with progressive supranuclear palsy. Mov Disord 2011, 26:561-563.
    • (2011) Mov Disord , vol.26 , pp. 561-563
    • Ogaki, K.1    Motoi, Y.2    Li, Y.3    Tomiyama, H.4    Shimizu, N.5    Takanashi, M.6
  • 20
    • 0028902360 scopus 로고
    • Environment-driven responses in progressive supranuclear palsy
    • Ghika J., Tennis M., Growdon J., Hoffman E., Johnson K. Environment-driven responses in progressive supranuclear palsy. J Neurol Sci 1995, 130:104-111.
    • (1995) J Neurol Sci , vol.130 , pp. 104-111
    • Ghika, J.1    Tennis, M.2    Growdon, J.3    Hoffman, E.4    Johnson, K.5
  • 21
    • 84871505937 scopus 로고    scopus 로고
    • Analysis of C9orf72 repeat expansion in 563 Japanese patients with ALS
    • [Epub ahead of print]
    • Ogaki K., Li Y., Atsuta N., Tomiyama H., Funayama M., Watanabe H., et al. Analysis of C9orf72 repeat expansion in 563 Japanese patients with ALS. Neurobiol Aging 2012 June 21, [Epub ahead of print].
    • (2012) Neurobiol Aging
    • Ogaki, K.1    Li, Y.2    Atsuta, N.3    Tomiyama, H.4    Funayama, M.5    Watanabe, H.6
  • 22
    • 0023907038 scopus 로고
    • Acquired ocular motor apraxia due to bilateral frontoparietal infarcts
    • Pierrot-Deseilligny C., Gautier J.C., Loron P. Acquired ocular motor apraxia due to bilateral frontoparietal infarcts. Ann Neurol 1988, 23:199-202.
    • (1988) Ann Neurol , vol.23 , pp. 199-202
    • Pierrot-Deseilligny, C.1    Gautier, J.C.2    Loron, P.3
  • 23
    • 0004153542 scopus 로고    scopus 로고
    • Oxford University Press, New York, 512-21
    • Leigh R.J.Z.D. The neurology of eye movements 2006, Oxford University Press, New York, p. 512-21, 638-45. 4 ed.
    • (2006) The neurology of eye movements , pp. 638-45
    • Leigh, R.J.Z.D.1
  • 24
    • 79953301545 scopus 로고    scopus 로고
    • Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome
    • Rohrer J.D., Paviour D., Vandrovcova J., Hodges J., de Silva R., Rossor M.N. Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome. Neurodegener Dis 2011, 8:149-152.
    • (2011) Neurodegener Dis , vol.8 , pp. 149-152
    • Rohrer, J.D.1    Paviour, D.2    Vandrovcova, J.3    Hodges, J.4    de Silva, R.5    Rossor, M.N.6
  • 25
    • 34249052182 scopus 로고    scopus 로고
    • Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy
    • Williams D.R., Pittman A.M., Revesz T., Lees A.J., de Silva R. Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy. Mov Disord 2007, 22:895-897.
    • (2007) Mov Disord , vol.22 , pp. 895-897
    • Williams, D.R.1    Pittman, A.M.2    Revesz, T.3    Lees, A.J.4    de Silva, R.5
  • 26
    • 0038353463 scopus 로고    scopus 로고
    • Tau exon 10 + 16 mutation FTDP-17 presenting clinically as sporadic young onset PSP
    • Morris H.R., Osaki Y., Holton J., Lees A.J., Wood N.W., Revesz T., et al. Tau exon 10 + 16 mutation FTDP-17 presenting clinically as sporadic young onset PSP. Neurology 2003, 61:102-104.
    • (2003) Neurology , vol.61 , pp. 102-104
    • Morris, H.R.1    Osaki, Y.2    Holton, J.3    Lees, A.J.4    Wood, N.W.5    Revesz, T.6
  • 27
    • 10744228528 scopus 로고    scopus 로고
    • Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene
    • Rossi G., Gasparoli E., Pasquali C., Di Fede G., Testa D., Albanese A., et al. Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. Ann Neurol 2004, 55:448.
    • (2004) Ann Neurol , vol.55 , pp. 448
    • Rossi, G.1    Gasparoli, E.2    Pasquali, C.3    Di Fede, G.4    Testa, D.5    Albanese, A.6
  • 28
    • 25144460507 scopus 로고    scopus 로고
    • A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy
    • Ros R., Thobois S., Streichenberger N., Kopp N., Sanchez M.P., Perez M., et al. A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy. Arch Neurol 2005, 62:1444-1450.
    • (2005) Arch Neurol , vol.62 , pp. 1444-1450
    • Ros, R.1    Thobois, S.2    Streichenberger, N.3    Kopp, N.4    Sanchez, M.P.5    Perez, M.6
  • 30
    • 0141988823 scopus 로고    scopus 로고
    • Primary progressive aphasia-a language-based dementia
    • Mesulam M.M. Primary progressive aphasia-a language-based dementia. N Engl J Med 2003, 349:1535-1542.
    • (2003) N Engl J Med , vol.349 , pp. 1535-1542
    • Mesulam, M.M.1
  • 31
    • 18644366492 scopus 로고
    • The revised hasegawa's dementia scale (HDS-R) - evaluation of its usefulness as a screening test for dementia
    • Imai Y., Hasegawa K. The revised hasegawa's dementia scale (HDS-R) - evaluation of its usefulness as a screening test for dementia. J Hong Kong Coll Psychiatr 1994, 4:20-24.
    • (1994) J Hong Kong Coll Psychiatr , vol.4 , pp. 20-24
    • Imai, Y.1    Hasegawa, K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.