Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype
Abstract
Objective To analyze the association of polymorphisms in the tau gene with pathologically confirmed corticobasal degeneration (CBD). Background The authors previously described an extended tau haplotype (H1) that covers the human tau gene and is associated with the development of progressive supranuclear palsy (PSP). The authors now extend this analysis to CBD, a neurodegenerative condition with clinical and neuropathologic similarities to PSP. Like PSP, CBD is associated with accumulation of aggregates containing the 4-repeat isoforms of tau. Because of difficulty in diagnosis of CBD, the authors only analyzed cases with pathologically confirmed CBD. Methods The authors collected 57 unrelated, neuropathologically confirmed cases of CBD. Tau sequencing in these cases failed to show the presence of pathogenic mutations. Polymorphisms that spanned the tau gene were analyzed in all CBD cases and controls. Results Analyzing tau polymorphisms in CBD cases showed that the frequency of H1 and H1/H1 was significantly increased when analyzing all cases and when separating by country of origin. H1 frequency in all CBD cases was 0.921, compared with a control frequency of 0.766 (X(2) = 9.1, p = 0.00255 [1df], OR 3.56 [8.43 > CI 95% > 1.53]). The H1/H1 frequency was also significantly higher at 0.842 compared with 0.596 in age-matched controls (X(2) = 17.42, p = 0.00016, 2df), OR 3.61 [7.05 > CI 95% > 1.85]). Conclusions The CBD tau association described here suggests that PSP and CBD sh…
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Association of CBD with the H1 haplotype was first reported in a series of 18 cases and subsequently confirmed in a larger autopsy series of 57 cases.
“An association of CBD with the H1 haplotype was first reported in a series of 18 cases (16 corticobasal syndrome patients and two autopsy-confirmed CBD cases)15 and subsequently confirmed in a larger autopsy series of 57 cases16.”
From Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy (2015) · cites this paper as [16]
Cites
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., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) · Nature · doi:10.1038/31508 · Cited by 3,498 · see citing works
Self-citationLitvan, I., Agid, Y., Calne, D., Campbell, G., Dubois, B., Duvoisin, R. C., Goetz, C. G., Golbe, L. I., Grafman, J., Growdon, J. H., et al. (1996) · Neurology · doi:10.1212/wnl.47.1.1 · Cited by 2,538 · see citing works
Self-citationGoedert, M., Spillantini, M. G., Jakes, R., Rutherford, D., & Crowther, R. A. (1989) · Neuron · doi:10.1016/0896-6273(89)90210-9 · Cited by 2,492 · see citing works
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
Spillantini, M. G., Murrell, J. R., Goedert, M., Farlow, M. R., Klug, A., & Ghetti, B. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.13.7737 · Cited by 1,474 · see citing works
Tau is a candidate gene for chromosome 17 frontotemporal dementia
Poorkaj, P., Bird, T. D., Wijsman, E., Nemens, E., Garruto, R. M., Anderson, L., Andreadis, A., Wiederholt, W. C., Raskind, M., & Schellenberg, G. D. (1998) · Annals of Neurology · doi:10.1002/ana.410430617 · Cited by 1,374 · see citing works
Mutation-Specific Functional Impairments in Distinct Tau Isoforms of Hereditary FTDP-17
Hong, M. (1998) · Science · doi:10.1126/science.282.5395.1914 · Cited by 1,003 · see citing works
Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear Palsy
Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., Hardy, J., Lynch, T., Bigio, E., & Hutton, M. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.4.711 · Cited by 781 · see citing works
Self-citationTau protein pathology in neurodegenerative diseases
Spillantini, M. G., & Goedert, M. (1998) · Trends in Neurosciences · doi:10.1016/s0166-2236(98)01337-x · Cited by 683 · see citing works
Corticodentatonigral Degeneration With Neuronal Achromasia
Rebeiz, J. J., Kolodny, E. H., & Richardson, E. P. (1968) · Archives of Neurology · doi:10.1001/archneur.1968.00470310034003 · Cited by 627 · see citing works
Structure and novel exons of the human .tau. gene
Andreadis, A., Brown, W. M., & Kosik, K. S. (1992) · Biochemistry · doi:10.1021/bi00158a027 · Cited by 625 · see citing works
Clark, L. N., Poorkaj, P., Wszolek, Z., Geschwind, D., Nasreddine, Z. S., Miller, B. L., Li, D., Payami, H., Awert, F., Markopoulou, K., et al. (1998) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.95.22.13103 · Cited by 488 · see citing works
Neuropathologic differentiation of progressive supranuclear palsy and corticobasal degeneration
Dickson, D. W. (1999) · Journal of Neurology · doi:10.1007/bf03161076 · Cited by 424 · see citing works
Self-citationCorticobasal degeneration: A clinical study of 36 cases
Rinne, J. O., Lee, M. S., Thompson, P. D., & MARSDEN, C. D. (1994) · Brain · doi:10.1093/brain/117.5.1183 · Cited by 407 · see citing works
Genetic evidence for the involvement of τ in progressive supranuclear palsy
Conrad, C., Andreadis, A., Trojanowski, J. Q., Dickson, D. W., Kang, D. E., Chen, X., Wiederholt, W. C., Hansen, L., Masliah, E., Thal, L. J., et al. (1997) · Annals of Neurology · doi:10.1002/ana.410410222 · Cited by 388 · see citing works
Self-citationAccuracy of the Clinical Diagnosis of Corticobasal Degeneration
Litvan, I., Agid, Y., Goetz, C. G., Jankovic, J. J., Wenning, G. K., Brandel, J., Lai, E. C., Verny, M., Chaudhuri, К. R., McKee, A. C., et al. (1997) · Neurology · doi:10.1212/wnl.48.1.119 · Cited by 377 · see citing works
Self-citationKomori, T. (1999) · Brain Pathology · doi:10.1111/j.1750-3639.1999.tb00549.x · Cited by 277 · see citing works
Eye movements in parkinsonian syndromes
Vidailhet, M., Rivaud-Péchoux, S., Gouider‐Khouja, N., Pillon, B., Bonnet, A., Gaymard, B. M., Agid, Y., & Pierrot‐Deseilligny, C. (1994) · Annals of Neurology · doi:10.1002/ana.410350408 · Cited by 274 · see citing works
Tau gene mutation in familial progressive subcortical gliosis
Goedert, M., Spillantini, M. G., Crowther, R. A., Chen, S. G., Parchi, P., Tabaton, M., Lanska, D. J., Markesbery, W. R., Wilhelmsen, K. C., Dickson, D. W., et al. (1999) · Nature Medicine · doi:10.1038/7454 · Cited by 187 · see citing works
Self-citationLitvan, I., Grimes, D. A., Lang, A. E., Jankovic, J. J., McKee, A. C., Verny, M., Jellinger, K. A., Chaudhuri, К. R., & Pearce, R. K. B. (1999) · Journal of Neurology · doi:10.1007/bf03161075 · Cited by 133 · see citing works
Self-citationMorris, H. R., Janssen, J. C., Bandmann, O., Daniel, S. E., Rossor, M. N., Lees, A. J., & Wood, N. W. (1999) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.66.5.665 · Cited by 107 · see citing works
Self-citationMathuranath, P. S. (2000) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.68.3.304 · Cited by 107 · see citing works
Higgins, J. J., Litvan, I., Pho, L. T., Li, W., & Nee, L. E. (1998) · Neurology · doi:10.1212/wnl.50.1.270 · Cited by 89 · see citing works
Self-citationDirect genetic evidence for involvement of tau in progressive supranuclear palsy
Bennett, P., Bonifati, V., Bonuccelli, U., Colosimo, C., Mari, M. D., Fabbrini, G., Marconi, R., Meco, G., Nicholl, D. J., Stocchi, F., et al. (1998) · Neurology · doi:10.1212/wnl.51.4.982 · Cited by 86 · see citing works
Oliva, R., TOLOSA, E. S., Ezquerra, M., Molinuevo, J. L., Valldeoriola, F., Burguera, J. A., Calopa, M., Villa, M., & Ballesta, F. (1998) · Archives of Neurology · doi:10.1001/archneur.55.8.1122 · Cited by 70 · see citing works
Phenotypes and prognosis: clinicopathologic studies of corticobasal degeneration.
Litvan, I., Grimes, D. A., & Lang, A. E. (2000) · PubMed · Cited by 65 · see citing works
Self-citationClinical and pathological features of corticobasal degeneration.
Wr, G., Luthert, P. J., & Cd, M. (1990) · PubMed · Cited by 27 · see citing works
Corticobasal degeneration look-alikes.
Bhatia, K. P., Lee, M. S., Rinne, J. O., Révész, T., Scaravilli, F., Davies, L. W., & MARSDEN, C. D. (2000) · PubMed · Cited by 27 · see citing works
Self-citationBrown, J., Lantos, P. L., & Rossor, M. N. (1998) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.65.4.600 · Cited by 19 · see citing works
Self-citationPCR-based apolipoprotein E genotype analysis from archival fixed brain
Gioia, L., Vogt, L. J., Freeman, W. M., Flood, A., Vogt, B. A., & Vrana, K. E. (1998) · Journal of Neuroscience Methods · doi:10.1016/s0165-0270(98)00002-8 · Cited by 15 · see citing works
Cann, S. A. H., Netten, J. P. V., & Netten, C. V. (2000) · Pure Amsterdam UMC · doi:10.1002/1531-8249(200003)47:3
Parchi, P., Giese, A., Capellari, S., Brown, P., Schulz-Schaeffer, W., Windl, O., Zerr, I., Budka, H., Kopp, N., Piccardo, P., et al. (1999) · Annals of Neurology · doi:10.1002/1531-8249(199908)46:2
Self-citation
Flagged first, then by citations
1 of the 32 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Tau pathology and neurodegeneration
Spillantini, M. G., & Goedert, M. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70090-5 · Cited by 1,133 · see citing works
SIC Task Force appraisal of clinical diagnostic criteria for parkinsonian disorders
Litvan, I., Bhatia, K. P., Burn, D. J., Goetz, C. G., Lang, A. E., McKeith, I. G., Quinn, N. P., Sethi, K. D., Shults, C. W., & Wenning, G. K. (2003) · Movement Disorders · doi:10.1002/mds.10459 · Cited by 1,006 · see citing works
Self-citationRole of tau protein in both physiological and pathological conditions
AVILA, J., LUCAS, J. J., PÉREZ, M., & HERNÁNDEZ, F. (2004) · Physiological Reviews · doi:10.1152/physrev.00024.2003 · Cited by 1,005 · see citing works
Office of Rare Diseases Neuropathologic Criteria for Corticobasal Degeneration
Dickson, D. W., Bergeron, C., Chin, S. S., Duyckaerts, C., Horoupian, D., Ikeda, K., Jellinger, K., Lantos, P. L., Lippa, C. F., Mirra, S. S., et al. (2002) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/61.11.935 · Cited by 724 · see citing works
Self-citationPropagation of Tau aggregates and neurodegeneration
Goedert, M., Eisenberg, D. S., & Crowther, R. A. (2017) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-072116-031153 · Cited by 632 · see citing works
Arendt, T., Stieler, J. T., & Holzer, M. (2016) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2016.08.018 · Cited by 609 · see citing works
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
PSP Genetics Study Group, Höglinger, G. U., Melhem, N. M., Dickson, D. W., Sleiman, P. M. A., Wang, L.-S., Klei, L., Rademakers, R., de Silva, R., Litvan, I., et al. (2011) · Nature Genetics · doi:10.1038/ng.859 · Cited by 603 · see citing works
Self-citationNovel tau filament fold in corticobasal degeneration
Zhang, W., Tarutani, A., Newell, K. L., Murzin, A. G., Matsubara, T., Falcon, B., Vidal, R., Garringer, H. J., Shi, Y., Ikeuchi, T., et al. (2020) · Nature · doi:10.1038/s41586-020-2043-0 · Cited by 546 · see citing works
Neary, D., Snowden, J. S., & Mann, D. M. A. (2005) · The Lancet Neurology · doi:10.1016/s1474-4422(05)70223-4 · Cited by 539 · see citing works
Self-citationBoeve, B. F., Lang, A. E., & Litvan, I. (2003) · Annals of Neurology · doi:10.1002/ana.10570 · Cited by 526 · see citing works
Self-citationFrontotemporal Lobar Degeneration
Rabinovici, G. D., & Miller, B. L. (2010) · CNS Drugs · doi:10.2165/11533100-000000000-00000 · Cited by 504 · see citing works
Kent, S. A., Spires-Jones, T. L., & Durrant, C. S. (2020) · Acta Neuropathologica · doi:10.1007/s00401-020-02196-w · Cited by 446 · see citing works
Mutations causing neurodegenerative tauopathies
Goedert, M., & Jakes, R. (2005) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2004.08.007 · Cited by 438 · see citing works
NEURODEGENERATIVE DISEASES: New Concepts of Pathogenesis and Their Therapeutic Implications
Skovronsky, D., Lee, V. M. ‐., & Trojanowski, J. Q. (2006) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev.pathol.1.110304.100113 · Cited by 421 · see citing works
Uryu, K., Nakashima-Yasuda, H., Forman, M. S., Kwong, L. K., Clark, C. M., Grossman, M., Miller, B. L., Kretzschmar, H. A., Lee, V. M.-Y., Trojanowski, J. Q., et al. (2008) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31817713b5 · Cited by 382 · see citing works
Does corticobasal degeneration exist? A clinicopathological re-evaluation
Ling, H., O'Sullivan, S. S., Holton, J. L., Revesz, T., Massey, L. A., Williams, D. R., Paviour, D. C., & Lees, A. J. (2010) · Brain · doi:10.1093/brain/awq123 · Cited by 394 · see citing works
Self-citationNeuropathology of Frontotemporal Lobar Degeneration-Tau (FTLD-Tau)
Dickson, D. W., Kouri, N., Murray, M. E., & Josephs, K. A. (2011) · Journal of Molecular Neuroscience · doi:10.1007/s12031-011-9589-0 · Cited by 380 · see citing works
Self-citationThe role of tau (MAPT) in frontotemporal dementia and related tauopathies
Rademakers, R., Cruts, M., & Broeckhoven, C. V. (2004) · Human Mutation · doi:10.1002/humu.20086 · Cited by 356 · see citing works
Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank
Bieniek, K. F., Ross, O. A., Cormier, K. A., Walton, R. L., Soto-Ortolaza, A., Johnston, A. E., DeSaro, P., Boylan, K. B., Graff-Radford, N. R., Wszolek, Z. K., et al. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1502-4 · Cited by 323 · see citing works
Self-citationTau protein as a differential biomarker of tauopathies
Sergeant, N., Delacourte, A., & Buée, L. (2004) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2004.06.020 · Cited by 312 · see citing works
The Genetics of Parkinson Disease
Bekris, L. M., Mata, I. F., & Zabetian, C. P. (2010) · Journal of Geriatric Psychiatry and Neurology · doi:10.1177/0891988710383572 · Cited by 307 · see citing works
Alpha-synuclein and tau: teammates in neurodegeneration?
Moussaud, S., Jones, D. R., Moussaud-Lamodière, E. L., Delenclos, M., Ross, O. A., & McLean, P. J. (2014) · Molecular Neurodegeneration · doi:10.1186/1750-1326-9-43 · Cited by 291 · see citing works
The genetics and neuropathology of frontotemporal lobar degeneration
Sieben, A., Van Langenhove, T., Engelborghs, S., Martin, J.-J., Boon, P., Cras, P., De Deyn, P.-P., Santens, P., Van Broeckhoven, C., & Cruts, M. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-1029-x · Cited by 280 · see citing works
Argyrophilic Grain Disease Is a Sporadic 4-Repeat Tauopathy
Togo, T., Sahara, N., Yen, S.-H., Cookson, N., Ishizawa, T., Hutton, M., de Silva, R., Lees, A., & Dickson, D. W. (2002) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/61.6.547 · Cited by 273 · see citing works
Self-citationPittman, A. M., Myers, A. J., Abou‐Sleiman, P. M., Fung, H., Kaleem, M., Marlowe, L., Duckworth, J., Leung, D. G., Williams, D. R., Kilford, L., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.031377 · Cited by 275 · see citing works
Self-citationInterface between tauopathies and synucleinopathies: A tale of two proteins
Galpern, W. R., & Lang, A. E. (2006) · Annals of Neurology · doi:10.1002/ana.20819 · Cited by 263 · see citing works
Self-citationFrontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine
Irwin, D. J., Cairns, N. J., Grossman, M., McMillan, C. T., Lee, E. B., Deerlin, V. M. V., Lee, V. M. ‐., & Trojanowski, J. Q. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1380-1 · Cited by 262 · see citing works
Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease
Gan-Or, Z., Dion, P. A., & Rouleau, G. A. (2015) · Autophagy · doi:10.1080/15548627.2015.1067364 · Cited by 260 · see citing works
Trabzuni, D., Wray, S., Vandrovcova, J., Ramasamy, A., Walker, R., Smith, C., Luk, C., Gibbs, J. R., Dillman, A., Hernandez, D. G., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds238 · Cited by 252 · see citing works
Self-citationCorticobasal degeneration: a pathologically distinct 4R tauopathy
Kouri, N., Whitwell, J. L., Josephs, K. A., Rademakers, R., & Dickson, D. W. (2011) · Nature Reviews Neurology · doi:10.1038/nrneurol.2011.43 · Cited by 246 · see citing works
Self-citationSong, Y. J. C., Halliday, G. M., Holton, J. L., Lashley, T., O’Sullivan, S. S., McCann, H., Lees, A. J., Ozawa, T., Williams, D. R., Lockhart, P. J., et al. (2009) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3181b66f1b · Cited by 239 · see citing works
Self-citationClinicopathologic assessment and imaging of tauopathies in neurodegenerative dementias
Murray, M. E., Kouri, N., Lin, W.-L., Jack, C. R., Dickson, D. W., & Vemuri, P. (2014) · Alzheimer s Research & Therapy · doi:10.1186/alzrt231 · Cited by 237 · see citing works
Self-citationAging of the brain, entropy, and Alzheimer disease
Drachman, D. A. (2006) · Neurology · doi:10.1212/01.wnl.0000240127.89601.83 · Cited by 230 · see citing works
Cellular and pathological heterogeneity of primary tauopathies
Chung, D. C., Roemer, S. F., Petrucelli, L., & Dickson, D. W. (2021) · Molecular Neurodegeneration · doi:10.1186/s13024-021-00476-x · Cited by 218 · see citing works
Self-citationThe H1c haplotype at the MAPT locus is associated with Alzheimer's disease
Myers, A. J., Kaleem, M., Marlowe, L., Pittman, A. M., Lees, A. J., Fung, H., Duckworth, J., Leung, D. G., Gibson, A., Morris, C. M., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi241 · Cited by 221 · see citing works
Self-citationKouri, N., Ross, O. A., Dombroski, B., Younkin, C. S., Serie, D. J., Soto-Ortolaza, A., Baker, M., Finch, N. C. A., Yoon, H., Kim, J., et al. (2015) · Nature Communications · doi:10.1038/ncomms8247 · Cited by 219 · see citing works
“An association of CBD with the H1 haplotype was first reported in a series of 18 cases (16 corticobasal syndrome patients and 2 autopsy-confirmed CBD cases) 15 and subsequently confirmed in a larger autopsy series of 57 16 .”
Self-citationRk, M., Edwards, M. J., Schott, J. M., & Bhatia, K. P. (2004) · The Lancet Neurology · doi:10.1016/s1474-4422(04)00936-6 · Cited by 210 · see citing works
Self-citationAltered Proteins in the Aging Brain
Elobeid, A., Libard, S., Leino, M., Popova, S. N., & Alafuzoff, I. (2016) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlw002 · Cited by 202 · see citing works
Josephs, K. A., Boeve, B. F., Duffy, J. R., Smith, G. E., Knopman, D. S., Parisi, J. E., Petersen, R. C., & Dickson, D. W. (2005) · Neurocase · doi:10.1080/13554790590963004 · Cited by 191 · see citing works
Self-citationTau isoform regulation is region‐ and cell‐specific in mouse brain
McMillan, P., Korvatska, E., Poorkaj, P., Evstafjeva, Z., Robinson, L., Greenup, L., Leverenz, J., Schellenberg, G. D., & D'Souza, I. (2008) · Journal of Comparative Neurology · doi:10.1002/cne.21867 · Cited by 179 · see citing works
Progressive Supranuclear Palsy
Golbe, L. I. (2014) · Seminars in Neurology · doi:10.1055/s-0034-1381736 · Cited by 178 · see citing works
Tau gene mutations: dissecting the pathogenesis of FTDP-17
Ingram, E., & Spillantini, M. G. (2002) · Trends in Molecular Medicine · doi:10.1016/s1471-4914(02)02440-1 · Cited by 177 · see citing works
Extracellular Tau Levels Are Influenced by Variability in Tau That Is Associated with Tauopathies
Karch, C. M. M., Jeng, A. T., & Goate, A. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.380642 · Cited by 174 · see citing works
Identification of a novel family of presenilin homologues
Ponting, C. P. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.9.1037 · Cited by 173 · see citing works
Miller, V. M. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh208 · Cited by 170 · see citing works
Guadeloupean parkinsonism: a cluster of progressive supranuclear palsy‐like tauopathy
Caparros-Lefebvre, D., Sergeant, N., Lees, A. J., Camuzat, A., Daniel, S. E., Lannuzel, A., Brice, A., TOLOSA, E. S., Delacourte, A., & Duyckaerts, C. J. (2002) · Brain · doi:10.1093/brain/awf086 · Cited by 169 · see citing works
Self-citationAssociation analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease
Zabetian, C. P., Hutter, C. M., Factor, S. A., Nutt, J. G., Higgins, D. S., Griffith, A., Roberts, J. W., Leis, B. C., Kay, D. M., Yearout, D., et al. (2007) · Annals of Neurology · doi:10.1002/ana.21157 · Cited by 165 · see citing works
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Self-citationFree Radicals in Human Health and Disease
Yadav, U. C. S., & Rani, V. (2014) · Springer eBooks · doi:10.1007/978-81-322-2035-0 · Cited by 163 · see citing works
Tau haplotypes regulate transcription and are associated with Parkinson's disease
Kwok, J. B., Teber, E., Loy, C. T., Hallupp, M., Nicholson, G. A., Mellick, G. D., Buchanan, D. D., Silburn, P. A., & Schofield, P. R. (2004) · Annals of Neurology · doi:10.1002/ana.10826 · Cited by 159 · see citing works
Linkage Disequilibrium and Association of MAPT H1 in Parkinson Disease
Skipper, L. M., Wilkes, K. M., Toft, M., Baker, M., Lincoln, S., Hulihan, M., Ross, O. A., Hutton, M., Aasly, J. O., & Farrer, M. J. (2004) · The American Journal of Human Genetics · doi:10.1086/424492 · Cited by 158 · see citing works
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Allen, M., Kachadoorian, M., Quicksall, Z., Zou, F., Chai, H. S., Younkin, C. S., Crook, J. E., Pankratz, V. S., Carrasquillo, M. M., Krishnan, S., et al. (2014) · Alzheimer s Research & Therapy · doi:10.1186/alzrt268 · Cited by 154 · see citing works
Self-citationCorticobasal degeneration as a cognitive disorder
Graham, N. L., Bak, T. H., & Hodges, J. R. (2003) · Movement Disorders · doi:10.1002/mds.10536 · Cited by 154 · see citing works
Argyrophilic grain disease: A late‐onset dementia with distinctive features among tauopathies
Tolnay, M., & Clavaguera, F. (2004) · Neuropathology · doi:10.1111/j.1440-1789.2004.00591.x · Cited by 150 · see citing works
Rademakers, R., Melquist, S., Cruts, M., Theuns, J., Del-Favero, J., Poorkaj, P., Baker, M., Sleegers, K., Crook, R., De Pooter, T., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi361 · Cited by 164 · see citing works
Self-citationTau-Based Treatment Strategies in Neurodegenerative Diseases
Schneider, A., & Mandelkow�, E. (2008) · Neurotherapeutics · doi:10.1016/j.nurt.2008.05.006 · Cited by 142 · see citing works
Dementia Risk in Parkinson Disease
Setó‐Salvia, N., Clarimón, J., Pagonabarraga, J., Pascual‐Sedano, B., Campolongo, A., Combarros, O., Mateo, J. I., Regaña, D., Martínez-Corral, M., Marquié, M., et al. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.17 · Cited by 142 · see citing works
Evolving concepts in progressive supranuclear palsy and other 4-repeat tauopathies
Stamelou, M., Respondek, G., Giagkou, N., Whitwell, J. L., Kovács, G. G., & Höglinger, G. U. (2021) · Nature Reviews Neurology · doi:10.1038/s41582-021-00541-5 · Cited by 143 · see citing works
Gwinn, K. A. (2002) · Movement Disorders · doi:10.1002/mds.10173 · Cited by 139 · see citing works
APOE ε2 is associated with increased tau pathology in primary tauopathy
Zhao, N., Liu, C.-C., Van Ingelgom, A. J., Linares, C., Kurti, A., Knight, J. A., Heckman, M. G., Diehl, N. N., Shinohara, M., Martens, Y. A., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-06783-0 · Cited by 139 · see citing works
Self-citationThe role of tau in the pathological process and clinical expression of Huntington’s disease
Vuono, R., Winder‐Rhodes, S., de Silva, R., Cisbani, G., Drouin‐Ouellet, J., REGISTRY Investigators of the European Huntington’s Disease Network, Spillantini, M. G., Cicchetti, F., & Barker, R. A. (2015) · Brain · doi:10.1093/brain/awv107 · Cited by 139 · see citing works
Progressive supranuclear palsy: where are we now?
Burn, D. J., & Lees, A. J. (2002) · The Lancet Neurology · doi:10.1016/s1474-4422(02)00161-8 · Cited by 137 · see citing works
Self-citationHaplotype-specific expression of exon 10 at the human MAPT locus
Caffrey, T. M., Joachim, C. L., Paracchini, S., Esiri, M. M., & Wade‐Martins, R. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl429 · Cited by 135 · see citing works
Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology
Ling, H., Kovács, G. G., Vonsattel, J. P., Davey, K., Mok, K. Y., Hardy, J., Morris, H. R., Warner, T. T., Holton, J. L., & Révész, T. (2016) · Brain · doi:10.1093/brain/aww256 · Cited by 134 · see citing works
Self-citationTau gene mutations and their effects
Goedert, M. (2005) · Movement Disorders · doi:10.1002/mds.20539 · Cited by 134 · see citing works
Frontotemporal Lobar Degeneration: Epidemiology, Pathology, Diagnosis and Management
Seltman, R. E., & Matthews, B. R. (2012) · CNS Drugs · doi:10.2165/11640070-000000000-00000 · Cited by 132 · see citing works
Tsuboi, Y., Wszołek, Z. K., Graff‐Radford, N. R., Cookson, N., & Dickson, D. W. (2003) · Neuropathology and Applied Neurobiology · doi:10.1046/j.1365-2990.2003.00453.x · Cited by 132 · see citing works
Self-citationThe structure of the tau haplotype in controls and in progressive supranuclear palsy
Pittman, A. M. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh138 · Cited by 127 · see citing works
Tau filaments in neurodegenerative diseases
Goedert, M. (2018) · FEBS Letters · doi:10.1002/1873-3468.13108 · Cited by 127 · see citing works
Complex I: Inhibitors, inhibition and neurodegeneration
Schapira, A. H. V. (2010) · Experimental Neurology · doi:10.1016/j.expneurol.2010.03.028 · Cited by 125 · see citing works
Small-molecule PET Tracers for Imaging Proteinopathies
Mathis, C. A., Lopresti, B. J., Ikonomović, M. D., & Klunk, W. E. (2017) · Seminars in Nuclear Medicine · doi:10.1053/j.semnuclmed.2017.06.003 · Cited by 122 · see citing works
Tau isoform composition influences rate and extent of filament formation
Zhong, Q., Congdon, E. E., Nagaraja, H. N., & Kuret, J. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.364067 · Cited by 122 · see citing works
Knock-out and transgenic mouse models of tauopathies
Denk, F., & Wade‐Martins, R. (2007) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2007.05.010 · Cited by 120 · see citing works
Differential Incorporation of Tau Isoforms in Alzheimer's Disease
Espinoza, M., de Silva, R., Dickson, D. W., & Davies, P. (2008) · Journal of Alzheimer's Disease · doi:10.3233/jad-2008-14101 · Cited by 119 · see citing works
Self-citationGalimberti, D., Dell’Osso, B. M., Altamura, A. C., & Scarpini, E. A. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.03.028 · Cited by 118 · see citing works
The tau H2 haplotype is almost exclusively Caucasian in origin
Evans, E. W., Fung, H., Steele, J. C., Eerola, J., Tienari, P. J., Pittman, A. M., de Silva, R., Myers, A., Vrièze, F. W., Singleton, A., et al. (2004) · Neuroscience Letters · doi:10.1016/j.neulet.2004.05.119 · Cited by 117 · see citing works
Self-citationBehavior and cognition in corticobasal degeneration and progressive supranuclear palsy
KERTESZ, A. E., & McMonagle, P. (2009) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2009.08.036 · Cited by 110 · see citing works
Self-citationUntangling the tau gene association with neurodegenerative disorders
Pittman, A. M., Fung, H., & de Silva, R. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl190 · Cited by 110 · see citing works
Rademakers, R., Cruts, M., Dermaut, B., Sleegers, K., Rosso, S. M., den Broeck, M. V., Backhovens, H., Swieten, J. C. V., van Duijn, C. M., & Broeckhoven, C. V. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001198 · Cited by 106 · see citing works
Association Between the Extended tau Haplotype and Frontotemporal Dementia
Verpillat, P., Camuzat, A., Hannequin, D., Thomas-Antérion, C., Puel, M., Belliard, S., Dubois, B., Didic, M., Michel, B., Lacomblez, L., et al. (2002) · Archives of Neurology · doi:10.1001/archneur.59.6.935 · Cited by 101 · see citing works
Early-onset dementias: diagnostic and etiological considerations
Masellis, M., Sherborn, K., Rosa‐Neto, P., Sadovnick, A. D., Hsiung, G. R., Black, S. E., Prasad, S., Williams, M., & Gauthier, S. G. (2013) · Alzheimer s Research & Therapy · doi:10.1186/alzrt197 · Cited by 100 · see citing works
Corticobasal degeneration and corticobasal syndrome: A review
Constantinides, V. C., Paraskevas, G. P., Paraskevas, P. G., Stefanis, L., & Kapaki, E. N. (2019) · Clinical Parkinsonism & Related Disorders · doi:10.1016/j.prdoa.2019.08.005 · Cited by 99 · see citing works
Frontotemporal Lobar Degeneration: A Clinical Approach
Karageorgiou, E., & Miller, B. L. (2014) · Seminars in Neurology · doi:10.1055/s-0034-1381735 · Cited by 97 · see citing works
Tau mis-splicing in the pathogenesis of neurodegenerative disorders
Park, S. A., Ahn, S. I., & Gallo, J. (2016) · BMB Reports · doi:10.5483/bmbrep.2016.49.8.084 · Cited by 98 · see citing works
Progressive Supranuclear Palsy and Corticobasal Degeneration: Pathophysiology and Treatment Options
Lamb, R., Rohrer, J. D., Lees, A. J., & Morris, H. R. (2016) · Current Treatment Options in Neurology · doi:10.1007/s11940-016-0422-5 · Cited by 95 · see citing works
Self-citationSingleton, A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh093 · Cited by 95 · see citing works
Rational therapeutic approaches to progressive supranuclear palsy
Stamelou, M., de Silva, R., Arias-Carrion, O., Boura, E., Hollerhage, M., Oertel, W. H., Muller, U., & Hoglinger, G. U. (2010) · Brain · doi:10.1093/brain/awq115 · Cited by 91 · see citing works
Toward a molecular neuropsychiatry of neurodegenerative diseases
Cummings, J. L. (2003) · Annals of Neurology · doi:10.1002/ana.10616 · Cited by 92 · see citing works
Gentry, E. G., Henderson, B. W., Arrant, A. E., Gearing, M., Feng, Y., Riddle, N. C., & Herskowitz, J. H. (2016) · The Journal of Neuroscience · doi:10.1523/jneurosci.2336-15.2016 · Cited by 90 · see citing works
Tau at the interface between neurodegeneration and neuroinflammation
Didonna, A. (2020) · Genes & Immunity · doi:10.1038/s41435-020-00113-5 · Cited by 82 · see citing works
Hippocampal Sclerosis Dementia with Tauopathy
Beach, T. G., Sue, L. I., Scott, S., Layne, K. J., Newell, A., Walker, D. G., Baker, M., Sahara, N., Yen, S.-H. C., Hutton, M. L., et al. (2003) · Brain Pathology · doi:10.1111/j.1750-3639.2003.tb00027.x · Cited by 89 · see citing works
Self-citationHaplotype-specific expression of the N-terminal exons 2 and 3 at the human MAPT locus
Caffrey, T. M., Joachim, C., & Wade-Martins, R. (2008) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2007.05.002 · Cited by 88 · see citing works
Novel haplotypes in 17q21 are associated with progressive supranuclear palsy
Pástor, P., Ezquerra, M., Pérez, J. C., Chakraverty, S., Norton, J. B., Racette, B. A., McKeel, D., Perlmutter, J. S., TOLOSA, E. S., & Goate, A. (2004) · Annals of Neurology · doi:10.1002/ana.20178 · Cited by 88 · see citing works
Milestones in atypical and secondary Parkinsonisms
Wenning, G. K., Litvan, I., & TOLOSA, E. S. (2011) · Movement Disorders · doi:10.1002/mds.23713 · Cited by 87 · see citing works
Self-citationTalbot, K., & Ansorge, O. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl202 · Cited by 88 · see citing works
Presenile dementia syndromes: an update on taxonomy and diagnosis
Greicius, M. D. (2002) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.72.6.691 · Cited by 85 · see citing works
Kauwe, J. S. K., Jacquart, S., Chakraverty, S., Wang, J., Mayo, K., Fagan, A. M., Holtzman, D. M., Morris, J. C., & Goate, A. M. (2007) · Annals of Neurology · doi:10.1002/ana.21099 · Cited by 84 · see citing works
The neuropathology and biochemistry of frontotemporal dementia
Muñoz, D. G., Dickson, D. W., Bergeron, C., Mackenzie, I. R., Delacourte, A., & Zhukareva, V. A. (2003) · Annals of Neurology · doi:10.1002/ana.10571 · Cited by 83 · see citing works
Self-citation
- Authors
- Houlden, H., Baker, M., Morris, H. R., MacDonald, N., Pickering–Brown, S., Adamson, J., Lees, A. J., Rossor, M. N., Quinn, N. P., Kertesz, A., Khan, M. N., Hardy, J., Lantos, P. L., St. George–Hyslop, P., Munoz, D. G., Mann, D., Lang, A. E., Bergeron, C., Bigio, E. H., Litvan, I., Bhatia, K. P., Dickson, D., Wood, N. W., & Hutton, M.
- Affiliations
- St Bartholomew's Hospital (GB)
- From Neurogenetics (Drs. Houlden, Morris, Lees, Rossor, Quinn, Khan, Lantos, and Bhatia), Clinical Neurology and Dementia Research Group, Institute of Neurology, London; Mayo Clinic Jacksonville (Dr. Dickson and M. Baker and J. Adamson), Jacksonville, FL; Department of Gynaecological Oncology (Dr. MacDonald), St. Bartholomew’s Hospital, London; School of Biological Sciences (Dr. Pickering–Brown) and Department of Medicine (Dr. Mann), University of Manchester; Department of Neuropathology (M.N. Khan...
- National Institutes of Health (US)
- ORCID
- Venue
- Neurology
- Published
- 2001-06-26
- Volume
- 56
- Issue
- 12
- Pages
- 1702-1706
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2045671840
- Cited by
- 409
- References
- 32
- Citations by year
- 2026: 3 · 2025: 11 · 2024: 14 · 2023: 9 · 2022: 2 · 2021: 11 · 2020: 11 · 2019: 11 · 2018: 10 · 2017: 14 · 2016: 19 · 2015: 16 · 2014: 16 · 2013: 7 · 2012: 16
- FWCI
- 16.77
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- corticobasal degeneration, progressive supranuclear palsy, tau gene, tau aggregation, genetic association, neurodegeneration
- MeSH terms
- Genotype, Haplotypes, Humans, Supranuclear Palsy, Progressive, Polymerase Chain Reaction, tau Proteins, Neurodegenerative Diseases
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