메뉴 건너뛰기




Volumn 73, Issue 2, 2009, Pages 98-105

Familial aggregation of parkinsonism in progressive supranuclear palsy

Author keywords

[No Author keywords available]

Indexed keywords

TAU PROTEIN; GRN PROTEIN, HUMAN; LRRK2 PROTEIN, HUMAN; MAPT PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; SIGNAL PEPTIDE;

EID: 68149108192     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181a92bcc     Document Type: Article
Times cited : (51)

References (38)
  • 2
    • 8944262347 scopus 로고    scopus 로고
    • Follow-up study of risk factors in progressive supranuclear palsy
    • Golbe LI, Rubin RS, Cody RP, et al. Follow-up study of risk factors in progressive supranuclear palsy. Neurology 1996;47:148-154.
    • (1996) Neurology , vol.47 , pp. 148-154
    • Golbe, L.I.1    Rubin, R.S.2    Cody, R.P.3
  • 3
    • 0032784539 scopus 로고    scopus 로고
    • Clinical genetics of familial progressive supranuclear palsy
    • Rojo A, Pernaute RS, Fontan A, et al. Clinical genetics of familial progressive supranuclear palsy. Brain 1999;122:1233-1245.
    • (1999) Brain , vol.122 , pp. 1233-1245
    • Rojo, A.1    Pernaute, R.S.2    Fontan, A.3
  • 4
    • 0029863598 scopus 로고    scopus 로고
    • Autopsyproven progressive supranuclear palsy in two siblings
    • Tetrud JW, Golbe LI, Forno LS, Farmer PM. Autopsyproven progressive supranuclear palsy in two siblings. Neurology 1996;46:931-934.
    • (1996) Neurology , vol.46 , pp. 931-934
    • Tetrud, J.W.1    Golbe, L.I.2    Forno, L.S.3    Farmer, P.M.4
  • 5
    • 25144500987 scopus 로고    scopus 로고
    • Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy
    • Tuite PJ, Clark HB, Bergeron C, et al. Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy. Arch Neurol 2005;62:1453-1457.
    • (2005) Arch Neurol , vol.62 , pp. 1453-1457
    • Tuite, P.J.1    Clark, H.B.2    Bergeron, C.3
  • 6
    • 20944444262 scopus 로고    scopus 로고
    • Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1
    • Ros R, Gomez Garre P, Hirano M, et al. Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1. Ann Neurol 2005;57:634-641.
    • (2005) Ann Neurol , vol.57 , pp. 634-641
    • Ros, R.1    Gomez Garre, P.2    Hirano, M.3
  • 7
    • 0034093228 scopus 로고    scopus 로고
    • Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: Expansion of the disease phenotype caused by tau gene mutations
    • Stanford PM, Halliday GM, Brooks WS, et al. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 2000;123:880-893.
    • (2000) Brain , vol.123 , pp. 880-893
    • Stanford, P.M.1    Halliday, G.M.2    Brooks, W.S.3
  • 8
    • 0036771837 scopus 로고    scopus 로고
    • An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype
    • Poorkaj P, Muma NA, Zhukareva V, et al. An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. Ann Neurol 2002;52:511-516.
    • (2002) Ann Neurol , vol.52 , pp. 511-516
    • Poorkaj, P.1    Muma, N.A.2    Zhukareva, V.3
  • 9
    • 0036589893 scopus 로고    scopus 로고
    • Further extension of the H1 haplotype associated with progressive supranuclear palsy
    • Pastor P, Ezquerra M, Tolosa E, et al. Further extension of the H1 haplotype associated with progressive supranuclear palsy. Mov Disord 2002;17:550-556.
    • (2002) Mov Disord , vol.17 , pp. 550-556
    • Pastor, P.1    Ezquerra, M.2    Tolosa, E.3
  • 10
    • 33847194237 scopus 로고    scopus 로고
    • Hereditary frontotemporal dementia caused by Tau gene mutations
    • van Swieten J, Spillantini MG. Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathol 2007;17:63-73.
    • (2007) Brain Pathol , vol.17 , pp. 63-73
    • van Swieten, J.1    Spillantini, M.G.2
  • 11
    • 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 2008;7:965-974.
    • (2008) Lancet Neurol , vol.7 , pp. 965-974
    • van Swieten, J.C.1    Heutink, P.2
  • 12
    • 50049104725 scopus 로고    scopus 로고
    • Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: A case-control study
    • Healy DG, Falchi M, O'Sullivan SS, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 2008;7:583-590.
    • (2008) Lancet Neurol , vol.7 , pp. 583-590
    • Healy, D.G.1    Falchi, M.2    O'Sullivan, S.S.3
  • 13
    • 27744488802 scopus 로고    scopus 로고
    • High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy
    • Rademakers R, Melquist S, Cruts M, et al. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet 2005;14:3281-3292.
    • (2005) Hum Mol Genet , vol.14 , pp. 3281-3292
    • Rademakers, R.1    Melquist, S.2    Cruts, M.3
  • 14
    • 34548140123 scopus 로고    scopus 로고
    • Donker Kaat L, Boon AJ, Kamphorst W, et al. Frontal presentation in progressive supranuclear palsy. Neurology 2007;69:723-729.
    • Donker Kaat L, Boon AJ, Kamphorst W, et al. Frontal presentation in progressive supranuclear palsy. Neurology 2007;69:723-729.
  • 15
    • 8944226575 scopus 로고    scopus 로고
    • Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): Report of the NINDSSPSP international workshop
    • Litvan I, Agid Y, Calne D, et al. Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDSSPSP international workshop. Neurology 1996;47:1-9.
    • (1996) Neurology , vol.47 , pp. 1-9
    • Litvan, I.1    Agid, Y.2    Calne, D.3
  • 16
    • 10744222014 scopus 로고    scopus 로고
    • Accuracy of family history data on Parkinson's disease
    • Marder K, Levy G, Louis ED, et al. Accuracy of family history data on Parkinson's disease. Neurology 2003;61:18-23.
    • (2003) Neurology , vol.61 , pp. 18-23
    • Marder, K.1    Levy, G.2    Louis, E.D.3
  • 17
    • 36148941777 scopus 로고    scopus 로고
    • The Rotterdam Study: Objectives and design update
    • Hofman A, Breteler MM, van Duijn CM, et al. The Rotterdam Study: objectives and design update. Eur J Epidemiol 2007;22:819-829.
    • (2007) Eur J Epidemiol , vol.22 , pp. 819-829
    • Hofman, A.1    Breteler, M.M.2    van Duijn, C.M.3
  • 18
    • 33847183187 scopus 로고    scopus 로고
    • Progranulin mutations in Dutch familial frontotemporal lobar degeneration
    • Bronner IF, Rizzu P, Seelaar H, et al. Progranulin mutations in Dutch familial frontotemporal lobar degeneration. Eur J Hum Genet 2007;15:369-374.
    • (2007) Eur J Hum Genet , vol.15 , pp. 369-374
    • Bronner, I.F.1    Rizzu, P.2    Seelaar, H.3
  • 19
    • 28344457936 scopus 로고    scopus 로고
    • Lrrk2 pathogenic substitutions in Parkinson's disease
    • Mata IF, Kachergus JM, Taylor JP, et al. Lrrk2 pathogenic substitutions in Parkinson's disease. Neurogenetics 2005;6:171-177.
    • (2005) Neurogenetics , vol.6 , pp. 171-177
    • Mata, I.F.1    Kachergus, J.M.2    Taylor, J.P.3
  • 20
    • 0033070197 scopus 로고    scopus 로고
    • High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands
    • Rizzu P, Van Swieten JC, Joosse M, et al. High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet 1999;64:414-421.
    • (1999) Am J Hum Genet , vol.64 , pp. 414-421
    • Rizzu, P.1    Van Swieten, J.C.2    Joosse, M.3
  • 21
    • 0038170494 scopus 로고    scopus 로고
    • Pathological inclusion bodies in tauopathies contain distinct complements of tau with three or four microtubule-binding repeat domains as demonstrated by new specific monoclonal antibodies
    • de Silva R, Lashley T, Gibb G, et al. Pathological inclusion bodies in tauopathies contain distinct complements of tau with three or four microtubule-binding repeat domains as demonstrated by new specific monoclonal antibodies. Neuropathol Appl Neurobiol 2003;29:288-302.
    • (2003) Neuropathol Appl Neurobiol , vol.29 , pp. 288-302
    • de Silva, R.1    Lashley, T.2    Gibb, G.3
  • 22
    • 13344269690 scopus 로고    scopus 로고
    • Validity and reliability of the preliminary NINDS neuropathologic criteria for progressive supranuclear palsy and related disorders
    • Litvan I, Hauw JJ, Bartko JJ, et al. Validity and reliability of the preliminary NINDS neuropathologic criteria for progressive supranuclear palsy and related disorders. J Neuropathol Exp Neurol 1996;55:97-105.
    • (1996) J Neuropathol Exp Neurol , vol.55 , pp. 97-105
    • Litvan, I.1    Hauw, J.J.2    Bartko, J.J.3
  • 23
    • 34250865548 scopus 로고    scopus 로고
    • Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome
    • Williams DR, Holton JL, Strand C, et al. Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome. Brain 2007;130:1566-1576.
    • (2007) Brain , vol.130 , pp. 1566-1576
    • Williams, D.R.1    Holton, J.L.2    Strand, C.3
  • 24
    • 0032880430 scopus 로고    scopus 로고
    • Phenotypic variation in hereditary frontotemporal dementia with tau mutations
    • van Swieten JC, Stevens M, Rosso SM, et al. Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Ann Neurol 1999;46:617-626.
    • (1999) Ann Neurol , vol.46 , pp. 617-626
    • van Swieten, J.C.1    Stevens, M.2    Rosso, S.M.3
  • 25
    • 33645078169 scopus 로고    scopus 로고
    • Comparison of family histories in FTLD subtypes and related tauopathies
    • Goldman JS, Farmer JM, Wood EM, et al. Comparison of family histories in FTLD subtypes and related tauopathies. Neurology 2005;65:1817-1819.
    • (2005) Neurology , vol.65 , pp. 1817-1819
    • Goldman, J.S.1    Farmer, J.M.2    Wood, E.M.3
  • 26
    • 10044274396 scopus 로고    scopus 로고
    • APOE genotype, family history of dementia, and Alzheimer disease risk: A 6-year follow-up study
    • Huang W, Qiu C, von Strauss E, et al. APOE genotype, family history of dementia, and Alzheimer disease risk: a 6-year follow-up study. Arch Neurol 2004;61:1930-1934.
    • (2004) Arch Neurol , vol.61 , pp. 1930-1934
    • Huang, W.1    Qiu, C.2    von Strauss, E.3
  • 27
    • 33846446384 scopus 로고    scopus 로고
    • Associations between family history of Parkinson's disease and dementia and risk of dementia in Parkinson's disease: A community-based, longitudinal study
    • Kurz MW, Larsen JP, Kvaloy JT, Aarsland D. Associations between family history of Parkinson's disease and dementia and risk of dementia in Parkinson's disease: a community-based, longitudinal study. Mov Disord 2006;21:2170-2174.
    • (2006) Mov Disord , vol.21 , pp. 2170-2174
    • Kurz, M.W.1    Larsen, J.P.2    Kvaloy, J.T.3    Aarsland, D.4
  • 29
    • 84936613596 scopus 로고
    • History of dementia and Parkinson's disease in 1st-degree relatives of patients with Alzheimer's disease
    • Hofman A, Schulte W, Tanja TA, et al. History of dementia and Parkinson's disease in 1st-degree relatives of patients with Alzheimer's disease. Neurology 1989;39:1589-1592.
    • (1989) Neurology , vol.39 , pp. 1589-1592
    • Hofman, A.1    Schulte, W.2    Tanja, T.A.3
  • 30
    • 0033541156 scopus 로고    scopus 로고
    • Risk of Alzheimer's disease in relatives of Parkinson's disease patients with and without dementia
    • Marder K, Tang MX, Alfaro B, et al. Risk of Alzheimer's disease in relatives of Parkinson's disease patients with and without dementia. Neurology 1999;52:719-724.
    • (1999) Neurology , vol.52 , pp. 719-724
    • Marder, K.1    Tang, M.X.2    Alfaro, B.3
  • 31
    • 3142682400 scopus 로고    scopus 로고
    • Lack of familial aggregation of Parkinson disease and Alzheimer disease
    • Levy G, Louis ED, Mejia-Santana H, et al. Lack of familial aggregation of Parkinson disease and Alzheimer disease. Arch Neurol 2004;61:1033-1039.
    • (2004) Arch Neurol , vol.61 , pp. 1033-1039
    • Levy, G.1    Louis, E.D.2    Mejia-Santana, H.3
  • 32
    • 0029967196 scopus 로고    scopus 로고
    • Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: A clinicopathological study
    • Litvan I, Mangone CA, McKee A, et al. Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: a clinicopathological study. J Neurol Neurosurg Psychiatry 1996;60:615-620.
    • (1996) J Neurol Neurosurg Psychiatry , vol.60 , pp. 615-620
    • Litvan, I.1    Mangone, C.A.2    McKee, A.3
  • 33
    • 20444436764 scopus 로고    scopus 로고
    • Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism
    • Williams DR, de Silva R, Paviour DC, et al. Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism. Brain 2005;128:1247-1258.
    • (2005) Brain , vol.128 , pp. 1247-1258
    • Williams, D.R.1    de Silva, R.2    Paviour, D.C.3
  • 34
    • 18444388562 scopus 로고    scopus 로고
    • Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17
    • Kobayashi T, Mori H, Okuma Y, et al. Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17. J Neurol 2002;249:669-675.
    • (2002) J Neurol , vol.249 , pp. 669-675
    • Kobayashi, T.1    Mori, H.2    Okuma, Y.3
  • 35
    • 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, Nochlin D, Poorkaj P, et al. A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L). Brain 1999;122(Pt 4):741-756.
    • (1999) Brain , vol.122 , Issue.PART 4 , pp. 741-756
    • Bird, T.D.1    Nochlin, D.2    Poorkaj, P.3
  • 36
    • 21044450499 scopus 로고    scopus 로고
    • The effect of tau genotype on clinical features in FTDP-17
    • Baba Y, Tsuboi Y, Baker MC, et al. The effect of tau genotype on clinical features in FTDP-17. Parkinsonism Relat Disord 2005;11:205-208.
    • (2005) Parkinsonism Relat Disord , vol.11 , pp. 205-208
    • Baba, Y.1    Tsuboi, Y.2    Baker, M.C.3
  • 37
    • 32544454004 scopus 로고    scopus 로고
    • The relationship between histopathological features of progressive supranuclear palsy and disease duration
    • Josephs KA, Mandrekar JN, Dickson DW. The relationship between histopathological features of progressive supranuclear palsy and disease duration. Parkinsonism Relat Disord 2006;12:109-112.
    • (2006) Parkinsonism Relat Disord , vol.12 , pp. 109-112
    • Josephs, K.A.1    Mandrekar, J.N.2    Dickson, D.W.3
  • 38
    • 33744974990 scopus 로고    scopus 로고
    • Lewy bodies in progressive supranuclear palsy represent an independent disease process
    • Uchikado H, DelleDonne A, Ahmed Z, Dickson DW. Lewy bodies in progressive supranuclear palsy represent an independent disease process. J Neuropathol Exp Neurol 2006;65:387-395.
    • (2006) J Neuropathol Exp Neurol , vol.65 , pp. 387-395
    • Uchikado, H.1    DelleDonne, A.2    Ahmed, Z.3    Dickson, D.W.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.