Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene

Stanford, Prudence M.; Halliday, Glenda M.; Brooks, William S.; Kwok, John B. J.; Storey, Catherine E.; Creasey, Helen; Morris, John G. L.; Fulham, Michael J.; Schofield, Peter R.

doi:10.1093/brain/123.5.880

Cited by 262Alzheimer's disease research and treatmentsAmyotrophic Lateral Sclerosis ResearchParkinson's Disease Mechanisms and Treatments

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene

Stanford, Prudence M., Halliday, Glenda M., Brooks, William S., Kwok, John B. J., Storey, Catherine E., Creasey, Helen, Morris, John G. L., Fulham, Michael J. +1 more·2000·Brain

DOI 10.1093/brain/123.5.880

Open this paper in CoChat — free account

Abstract

Genetic mutations in the tau gene on chromosome 17 are known to cause frontotemporal dementias. We have identified a novel silent mutation (S305S) in the tau gene in a subject without significant atrophy or cellular degeneration of the frontal and temporal cortices. Rather the cellular pathology was characteristic of progressive supranuclear palsy, with neurofibrillary tangles concentrating within the subcortical regions of the basal ganglia. Two affected family members presented with symptoms of dementia and later developed neurological deficits including abnormality of vertical gaze and extrapyramidal signs. The third presented with dystonia of the left arm and dysarthria, and later developed a supranuclear gaze palsy and falls. The mutation is located in exon 10 of the tau gene and forms part of a stem-loop structure at the 5' splice donor site. Although the mutation does not give rise to an amino acid change in the tau protein, functional exon-trapping experiments show that it results in a significant 4.8-fold increase in the splicing of exon 10, resulting in the presence of tau containing four microtubule-binding repeats. This study provides direct molecular evidence for a functional mutation that causes progressive supranuclear palsy pathology and demonstrates that mutations in the tau gene are pleiotropic.

Integrity signals

Registry

Crossref · 10.1093/brain/123.5.880

Cites

54 of 54 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Decreased 3R:4R ratios are found in progressive supranuclear palsy and corticobasal degeneration.
“For example, increased 3R:4R ratios have been observed in Pick’s disease [108], while decreased 3R:4R ratios are found in progressive supranuclear palsy (PSP) and corticobasal degeneration [109–111].”
From Molecular and cellular mechanisms underlying the pathogenesis of Alzheimer’s disease (2020) · cites this paper as [109]
Imbalanced 3R:4R tau ratios resulting from altered MAPT pre-mRNA splicing have been observed in various tauopathies.
“Imbalanced 3R:4R tau ratios resulting from altered MAPT pre-mRNA splicing have been observed in various tauopathies.”
From Molecular and cellular mechanisms underlying the pathogenesis of Alzheimer’s disease (2020) · cites this paper as [109]

The Consortium to Establish a Registry for Alzheimer's Disease (CERAD): Part II. Standardization of the neuropathologic assessment of Alzheimer's disease
Mirra, S. S., Heyman, A., McKeel, D., Sumi, S. M., Crain, B. J., Brownlee, L. M., Vogel, F. S., Hughes, J. P., Belle, G. V., Berg, L., et al. (1991) · Neurology · doi:10.1212/wnl.41.4.479 · Cited by 4,961 · see citing works
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-citation
Three-dimensional tracking of axonal projections in the brain by magnetic resonance imaging
Mori, S., Crain, B. J., Chacko, V. P., & van Zijl, P. C. M. (1999) · Annals of Neurology · doi:10.1002/1531-8249(199902)45:2 · Cited by 3,479 · see citing works
Staging of alzheimer's disease-related neurofibrillary changes
Braak, H., & Braak, E. (1995) · Neurobiology of Aging · doi:10.1016/0197-4580(95)00021-6 · Cited by 2,357 · 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
Cloning and sequencing of the cDNA encoding an isoform of microtubule‐associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain.
Goedert, M., Spillantini, M. G., Potier, M. C., Ulrich, J., & Crowther, R. A. (1989) · The EMBO Journal · doi:10.1002/j.1460-2075.1989.tb03390.x · Cited by 1,037 · 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
Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference
Foster, N. L., Wilhelmsen, K., Sima, A. A. F., Jones, M. Z., D'Amato, C., & Gilman, S. (1997) · Annals of Neurology · doi:10.1002/ana.410410606 · Cited by 664 · see citing works
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements.
D'Souza, I., Poorkaj, P., Hong, M., Nochlin, D., Lee, V., Bird, T., & Schellenberg, G. (1999) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.96.10.5598 · Cited by 545 · see citing works
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., 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
Tau proteins with FTDP‐17 mutations have a reduced ability to promote microtubule assembly
Hasegawa, M., Smith, M. J., & Goedert, M. (1998) · FEBS Letters · doi:10.1016/s0014-5793(98)01217-4 · Cited by 482 · see citing works
Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17: A New Group of Tauopathies
Spillantini, M. G., Bird, T. D., & Ghetti, B. F. (1998) · Brain Pathology · doi:10.1111/j.1750-3639.1998.tb00162.x · Cited by 475 · see citing works
Frontotemporal Dementia and Corticobasal Degeneration in a Family with a P301S Mutation in Tau
Bugiani, O., Murrell, J. R., Giaccone, G., Hasegawa, M., Ghigo, G., Tabaton, M., Morbin, M., Primavera, A., Carella, F., Solaro, C., et al. (1999) · Journal of Neuropathology and Experimental Neurology · doi:10.1097/00005072-199906000-00011 · Cited by 450 · 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
Accuracy of clinical criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome)
Litvan, I., Agid, Y., Jankovic, J. J., Goetz, C. G., Brandel, J., Lai, E. C., Wenning, G. K., D'Olhaberriague, L., Verny, M., Chaudhuri, К. R., et al. (1996) · Neurology · doi:10.1212/wnl.46.4.922 · Cited by 347 · see citing works
5′ Splice Site Mutations in tau Associated with the Inherited Dementia FTDP-17 Affect a Stem-Loop Structure That Regulates Alternative Splicing of Exon 10
Grover, A., Houlden, H., Baker, M. C., Adamson, J. L., Lewis, J. M., Prihar, G., Pickering-Brown, S. M., Duff, K., & Hutton, M. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.21.15134 · Cited by 300 · see citing works
Tau Pathology in Two Dutch Families with Mutations in the Microtubule-Binding Region of Tau
Spillantini, M. G., Crowther, R. A., Kamphorst, W., Heutink, P., & Swieten, J. C. V. (1998) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)65721-5 · Cited by 293 · see citing works
Tau‐positive dial Inclusions in Progressive Supranuclear Palsy, Corticobasal Degeneration and Pick's Disease
Komori, T. (1999) · Brain Pathology · doi:10.1111/j.1750-3639.1999.tb00549.x · Cited by 277 · see citing works
The clinical and pathological spectrum of Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy): a reappraisal
Daniel, S. E., de Bruin, V. M. S., & Lees, A. J. (1995) · Brain · doi:10.1093/brain/118.3.759 · Cited by 276 · see citing works
Tau Mutations Cause Frontotemporal Dementias
Goedert, M., Crowther, R. A., & Spillantini, M. G. (1998) · Neuron · doi:10.1016/s0896-6273(00)80615-7 · Cited by 268 · see citing works
Decreased interleukin-10 and increased interleukin-12p40 mRNA are associated with disease activity and characterize different disease stages in multiple sclerosis
van Boxel-Dezaire, A. H. H., Hoff, S. C. J., van Oosten, B. W., Verweij, C. L., Dräger, A. M., Adèr, H. J., van Houwelingen, H. C., Barkhof, F., Polman, C. H., & Nagelkerken, L. M. (1999) · Annals of Neurology · doi:10.1002/1531-8249(199906)45:6 · Cited by 266 · see citing works
Neuropathologic Overlap of Progressive Supranuclear Palsy, Pickʼs Disease and Corticobasal Degeneration
Feany, M. Β., Mattiace, L. A., & Dickson, D. W. (1996) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199601000-00006 · Cited by 264 · see citing works
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. F., Klug, A., Goedert, M., & Varani, G. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.14.8229 · Cited by 248 · see citing works
The neuropsychological pattern of corticobasal degeneration
Pillon, B., Blin, J., Vidailhet, M., Deweer, B., Sirigu, A., Dubois, B., & Agid, Y. (1995) · Neurology · doi:10.1212/wnl.45.8.1477 · Cited by 240 · see citing works
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
Bird, T. D., Nochlin, D., Poorkaj, P., Cherrier, M. M., Kaye, J. A., Payami, H., Peskind, E. R., Lampe, T. H., Nemens, E. J., Boyer, P. J., et al. (1999) · Brain · doi:10.1093/brain/122.4.741 · Cited by 222 · see citing works
Mutations in tau reduce its microtubule binding properties in intact cells and affect its phosphorylation
Dayanandan, R., van Slegtenhorst, M., Mack, T. G. A., Ko, L., Yen, S. H., Leroy, K., Brion, J., Anderton, B. H., Hutton, M. L., & Lovestone, S. (1999) · FEBS Letters · doi:10.1016/s0014-5793(99)00222-7 · Cited by 210 · see citing works
FTDP‐17 mutations N279K and S305N in tau produce increased splicing of exon 10
Hasegawa, M., Smith, M. J., Iijima, M., Tabira, T., & Goedert, M. (1999) · FEBS Letters · doi:10.1016/s0014-5793(98)01696-2 · Cited by 209 · see citing works
Tau Pathology in a Family with Dementia and a P301L Mutation in Tau
Mirra, S. S., Murrell, J. R., Gearing, M., Spillantini, M. G., Goedert, M., Crowther, R. A., Levey, A. I., Jones, R., Green, J., Shoffner, J. M., et al. (1999) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199904000-00004 · Cited by 191 · 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
Autosomal dominant dementia with widespread neurofibrillary tangles
Reed, L. A., Schelper, R. L., Solodkin, A., Hoesen, G. W. V., Hoesen, G. W. V., Solodkin, A., Morris, J. C., Trojanowski, J. Q., Grabowski, T. J., Talbot, C. J., et al. (1997) · Annals of Neurology · doi:10.1002/ana.410420406 · Cited by 181 · see citing works
Self-citation
Hereditary frontotemporal dementia is linked to chromosome 17q21—q22: A genetic and clinicopathological study of three dutch families
Heutink, P., Stevens, M., Rizzu, P., Bakker, E., Kros, J. M., Tibben, A., Niermeijer, M. F., van Duijn, C. M., Oostra, B. A., & Swieten, J. C. V. (1997) · Annals of Neurology · doi:10.1002/ana.410410205 · Cited by 173 · see citing works
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy
Delisle, M., Murrell, J. R., Richardson, R., Trofatter, J. A., Rascol, O., Soulages, X., Mohr, M., Calvas, P., & Ghetti, B. F. (1999) · Acta Neuropathologica · doi:10.1007/s004010051052 · Cited by 171 · see citing works
A distinct familial presenile dementia with a novel missense mutation in the tau gene
Iijima, M., Tabira, T., Poorkaj, P., Schellenberg, G. D., Trojanowski, J. Q., Lee, V. M. ‐., Schmidt, M. L., Takahashi, K., Nabika, T., Matsumoto, T., et al. (1999) · Neuroreport · doi:10.1097/00001756-199902250-00010 · Cited by 159 · see citing works
The Neuropathology of a Chromosome 17-Linked Autosomal Dominant Parkinsonism and Dementia (“Pallido-Ponto-Nigral Degeneration”)
Reed, L., Schmidt, M. L., Wszołek, Z. K., Balin, B. J., Soontornniyomkij, V., Lee, V. M.-Y., Trojanowski, J. Q., & Schelper, R. L. (1998) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199806000-00006 · Cited by 143 · see citing works
The significance of cortical pathology in progressive supranuclear palsy. Clinico-pathological data in 10 cases.
Verny, M., Duyckaerts, C., Agid, Y., & Hauw, J. (1996) · Brain : a journal of neurology · doi:10.1093/brain/119.4.1123 · Cited by 127 · see citing works
Dystonia in progressive supranuclear palsy.
Barclay, C. L., & Lang, A. E. (1997) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.62.4.352 · Cited by 126 · see citing works
Clinical genetics of familial progressive supranuclear palsy
Rojo, A., Pernaute, R. S., Fontán, A., Ruiz, P., Honnorat, J., Lynch, T., Chin, S. S., Gonzalo, I., Rábano, A., Martínez, A., et al. (1999) · Brain · doi:10.1093/brain/122.7.1233 · Cited by 112 · see citing works
Cortical Degeneration in Progressive Supranuclear Palsy. A Comparison with Cortical-Basal Ganglionic Degeneration
Bergeron, C., Pollanen, Weyer, L., & Lang, A. E. (1997) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199706000-00010 · Cited by 110 · see citing works
The tau gene A0 polymorphism in progressive supranuclear palsy and related neurodegenerative diseases
Morris, 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
Corticobasal Ganglionic Degeneration and Progressive Supranuclear Palsy Presenting with Cognitive Decline
Bergeron, C., Davis, A. M., & Lang, A. E. (1998) · Brain Pathology · doi:10.1111/j.1750-3639.1998.tb00159.x · Cited by 103 · see citing works
The neuropathology of chromosome 17‐linked dementia
Sima, A., Defendini, R., Keohane, C., D'Amato, C., Foster, N. L., Parchi, P., Gambetti, P., Lynch, T., & Wilhelmsen, K. (1996) · Annals of Neurology · doi:10.1002/ana.410390609 · Cited by 89 · see citing works
Progressive supranuclear gaze palsy is in linkage disequilibrium with theτ and not the α-synuclein gene
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
Familial progressive supranuclear palsy
de Yébenes, J. G., Sarasa, J. L., Daniel, S. E., & Lees, A. J. (1995) · Brain · doi:10.1093/brain/118.5.1095 · Cited by 89 · see citing works
Direct 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
Cortical Degeneration in Progressive Supranuclear Palsy. A Comparison with Cortical-Basal Ganglionic Degeneration
Bergeron, C., Pollanen, Weyer, L., et al. (1997) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199756060-00010 · Cited by 85 · see citing works
Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21–22
Baker, M., Kwok, J. B. J., Kucera, S., Crook, R., Farrer, M., Houlden, H., Isaacs, A., Lincoln, S., Onstead, L., Hardy, J., et al. (1997) · Annals of Neurology · doi:10.1002/ana.410420516 · Cited by 83 · see citing works
Self-citation
Significant Changes in the Tau A0 and A3 Alleles in Progressive Supranuclear Palsy and Improved Genotyping by Silver Detection
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
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
(1999) · Brain · doi:10.1093/oxfordjournals.brain.a011754 · Cited by 67 · see citing works
Simplified neuropathological diagnosis of dementia with Lewy bodies
Harding, Harding, Halliday, et al. (1998) · Neuropathology and Applied Neurobiology · doi:10.1046/j.1365-2990.1998.00115.x · Cited by 46 · see citing works
Ubiquitin-positive achromatic neurons in corticobasal degeneration
Halliday, G. M., Davies, L., McRitchie, D. A., Cartwright, H., Pamphlett, R., & Morris, J. G. (1995) · Acta Neuropathologica · doi:10.1007/bf00294461 · Cited by 40 · see citing works
Self-citation
Clinical and Genetic Aspects of Progressive Supranuclear Palsy
Litvan, I., & Hutton, M. L. (1998) · Journal of Geriatric Psychiatry and Neurology · doi:10.1177/089198879801100208 · Cited by 29 · see citing works
The clinical and pathologic hallmarks of progressive supranuclear palsy
Litvan, I. (1997) · Current Opinion in Neurology · doi:10.1097/00019052-199708000-00011 · Cited by 21 · see citing works

Flagged first, then by citations

Sorted by citations

Neurodegenerative Tauopathies
Lee, V. M.-Y., Goedert, M., & Trojanowski, J. Q. (2001) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.24.1.1121 · Cited by 2,480 · see citing works
Molecular and cellular mechanisms underlying the pathogenesis of Alzheimer’s disease
Guo, T., Zhang, D., Zeng, Y., Huang, T. Y., Xu, H., & Zhao, Y. (2020) · Molecular Neurodegeneration · doi:10.1186/s13024-020-00391-7 · Cited by 994 · 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
Tau and tauopathies
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
Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges
Williams, D. R., & Lees, A. J. (2009) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70042-0 · Cited by 650 · see citing works
Progressive Supranuclear Palsy: Pathology and Genetics
Dickson, D. W., Rademakers, R., & Hutton, M. L. (2007) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00054.x · Cited by 314 · see citing works
Tau in neurodegenerative disease
Gao, Y.-L., Wang, N., Sun, F.-R., Cao, X.-P., Zhang, W., & Yu, J.-T. (2018) · Annals of Translational Medicine · doi:10.21037/atm.2018.04.23 · Cited by 222 · see citing works
<i>GSK3B</i> polymorphisms alter transcription and splicing in Parkinson's disease
Kwok, J. B. J., Hallupp, M., Loy, C. T., Chan, D. K. Y., Woo, J., Mellick, G. D., Buchanan, D. D., Silburn, P. A., Halliday, G. M., & Schofield, P. R. (2005) · Annals of Neurology · doi:10.1002/ana.20691 · Cited by 205 · see citing works
Self-citation
The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer’s disease
Stutzbach, L. D., Xie, S. X., Naj, A. C., Albin, R., Gilman, S., PSP Genetics Study Group, Lee, V. M. Y., Trojanowski, J. Q., Devlin, B., & Schellenberg, G. D. (2013) · Acta Neuropathologica Communications · doi:10.1186/2051-5960-1-31 · Cited by 197 · see citing works
Tau 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
A comprehensive resource for induced pluripotent stem cells from patients with primary tauopathies
Karch, C. M., Kao, A. W., Karydas, A., Onanuga, K., Martinez, R., Argouarch, A., Wang, C., Huang, C., Sohn, P. D., Bowles, K. R., et al. (2019) · Stem Cell Reports · doi:10.1016/j.stemcr.2019.09.006 · Cited by 119 · see citing works
Astroglia and Tau: New Perspectives
Kovacs, G. G. (2020) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2020.00096 · Cited by 115 · see citing works
Tau biology, tauopathy, traumatic brain injury, and diagnostic challenges
Castellani, R. J., & Perry, G. (2019) · Journal of Alzheimer’s Disease · doi:10.3233/jad-180721 · Cited by 110 · see citing works
Appoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis
Zhao, Y., Tseng, I.-C., Heyser, C. J., Rockenstein, E., Mante, M., Adame, A., Zheng, Q., Huang, T., Wang, X., Arslan, P. E., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.08.020 · Cited by 98 · 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
Transcriptional and conformational changes of the tau molecule in Alzheimer's disease
Hyman, B. T., Augustinack, J. C., & Ingelsson, M. (2005) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2004.06.015 · Cited by 79 · see citing works
Tau-induced pathology in epilepsy and dementia: notions from patients and animal models.
Sánchez, M., García-Cabrero, A., Sánchez-Elexpuru, G., Burgos, D., & Serratosa, J. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19041092 · Cited by 68 · see citing works
Morphological and Biochemical Correlations of Abnormal Tau Filaments in Progressive Supranuclear Palsy
Takahashi, M., Weidenheim, K. M., Dickson, D. W., & Ksiezak-Reding, H. (2002) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/61.1.33 · Cited by 56 · see citing works
The right temporal variant of frontotemporal dementia is not genetically sporadic: a case series
Ulugut Erkoyun, H., van der Lee, S. J., Nijmeijer, B., van Spaendonk, R., Nelissen, A., Scarioni, M., Dijkstra, A., Samancı, B., Gürvit, H., Yıldırım, Z., et al. (2021) · Journal of Alzheimer’s Disease · doi:10.3233/jad-201191 · Cited by 24 · see citing works
Diagnosing progressive supranuclear palsy: Role of biological and neuroimaging markers
Benussi A, B. B. (2014) · Journal of Alzheimer's Disease & Parkinsonism · doi:10.4172/2161-0460.1000168 · Cited by 6 · see citing works

Usefulness of the superior cerebellar peduncle for differential diagnosis of progressive supranuclear palsy: A meta-analysis
Sako, W., Murakami, N., Izumi, Y., et al. (2017) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2017.05.005 · Cited by 7 · see citing works
Clinical Conditions “Suggestive of Progressive Supranuclear Palsy”—Diagnostic Performance
Grimm, M., Respondek, G., Stamelou, M., Arzberger, T., Ferguson, L. W., Gelpí, E., Giese, A., Grossman, M., Irwin, D. J., Pantelyat, A. Y., et al. (2020) · Movement Disorders · doi:10.1002/mds.28263 · Cited by 46 · see citing works
Uncovering spatiotemporal patterns of atrophy in progressive supranuclear palsy using unsupervised machine learning
Scotton, W. J., Shand, C., Todd, E. G., Bocchetta, M., Cash, D. M., VandeVrede, L. A., Heuer, H. W., Costantini, A. A., Houlden, H., Kobylecki, C., et al. (2023) · Brain Communications · doi:10.1093/braincomms/fcad048 · Cited by 29 · see citing works
Pisa syndrome in progressive supranuclear palsy: A case report
Noda, K., Hattori, N., & Okuma, Y. (2017) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2017.08.1666
Highly specific radiographic marker predates clinical diagnosis in progressive supranuclear palsy
Owens, E., Krecke, K. N., Ahlskog, J. E., Fealey, R. D., Hassan, A., Josephs, K. A., Klassen, B. T., Matsumoto, J. Y., & Bower, J. H. (2016) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2016.05.006 · Cited by 25 · see citing works

Authors: Stanford, P. M., Halliday, G. M., Brooks, W. S., Kwok, J. B. J., Storey, C. E., Creasey, H., Morris, J. G. L., Fulham, M. J., & Schofield, P. R.
Affiliations: Garvan Institute of Medical Research (AU)
UNSW Sydney (AU)
Corresponding author: Stanford, Prudence M.
ORCID: Halliday, Glenda M.
Brooks, William S.
Kwok, John B. J.
Storey, Catherine E.
Morris, John G. L.
Fulham, Michael J.
Schofield, Peter R.
Venue: Brain
Publisher: Oxford University Press (OUP)
Published: 2000-05
Volume: 123
Issue: 5
Pages: 880-893
ISSN: 0006-8950 (ISSN-L)
1460-2156
DOI: 10.1093/brain/123.5.880
OpenAlex: W1957167348
Cited by: 262
References: 54
Citations by year: 2026: 1 · 2025: 2 · 2024: 9 · 2023: 4 · 2022: 7 · 2021: 5 · 2020: 6 · 2019: 7 · 2018: 6 · 2017: 3 · 2016: 6 · 2015: 13 · 2014: 6 · 2013: 5 · 2012: 3
FWCI: 15.53
Type: journal article
Language: en
Open access: closed
Locations: Brain (publishedVersion)
PubMed (publishedVersion)
Funders: University of New South Wales
Topics: Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
Keywords: progressive supranuclear palsy, tau gene, synonymous mutations, exon 10, exon trapping, alternative splicing, stem-loop structure, microtubule-binding repeats, neurofibrillary tangles, basal ganglia, supranuclear gaze palsy, dystonia, dysarthria, frontotemporal dementia, pleiotropy, familial dementia
MeSH terms: Aged, Aged, 80 and over, Atrophy, Basal Ganglia, Base Sequence, Brain, Child, Chromosomes, Human, Pair 17, Exons, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Pedigree, Phenotype, Polymorphism, Genetic, Supranuclear Palsy, Progressive, Tomography, Emission-Computed, Neurofibrillary Tangles, tau Proteins, Dinucleotide Repeats, Radiopharmaceuticals, Fluorodeoxyglucose F18

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Related

Record

About these checks