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Tau Gene Mutations and Tau Pathology in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17

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Neuropathology and Genetics of Dementia

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 487))

Abstract

Frontotemporal dementia was first described by Arnold Pick in 18921. In 1911, Alois Alzheimer described the neuropathological lesions characteristic of Pick’s disease2. In the 1960’s, these so-called Pick bodies were shown to contain abnormal filaments3which are now known to be made of hyperphosphorylated microtubule-associated protein tau4,5. They resemble the neurofibrillary lesions described by Alzheimer in 1907 in the disease subsequently named after him6,7. Filamentous inclusions made of tau protein are also a defining characteristic of neurodegenerative diseases, such as progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD).

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References

  1. Pick A (1892) Über die Beziehungen der senilen Hirnatrophie zur Aphasic. Prager Med Wochenschr 16: 765–767.

    Google Scholar 

  2. Alzheimer A (1911) Über eigenartige Krankheitsfälle des Späteren Alters. Z ges Neurol Psychiat 4: 356–385.

    Article  Google Scholar 

  3. Rewcastle NB, Ball MJ (1968) Electron microscopic structure of the inclusion bodies in Pick’s disease. Neurology 18: 1205–1213.

    Article  PubMed  CAS  Google Scholar 

  4. Pollock NJ, Mirra SS, Binder LI et al. (1986) Filamentous aggregates in Pick’s disease, progressive supranuclear palsy, and Alzheimer’s disease share antigenic determinants with microtubule-associated protein tau. Lancet II: 1211.

    Article  Google Scholar 

  5. Probst A, Tolnay M, Langui D et al. (1996) Pick’s disease: hyperphosphorylated tausegregates to the somatoaxonal compartment. Acta Neuropathol 92: 588–596.

    Article  PubMed  CAS  Google Scholar 

  6. Alzheimer A (1907) Über eine eigenartige Erkrankung der Hirnrinde. Allg Z Psychiat Psych Gerichtl Med 64: 146–148.

    Google Scholar 

  7. Spillantini MG, Goedert M (1998) Tau protein pathology in neurodegenerative diseases Trends Neurosci 21: 428–433.

    Article  PubMed  CAS  Google Scholar 

  8. Wilhelmsen KC, Lynch T, Payton E et al. (1994) Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21–22. Am J Hum Genet 55: 1159–1165.

    PubMed  CAS  Google Scholar 

  9. Foster NL, Wilhelmsen KC, Sima AAF et al. (1997) Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus statement. Ann Neurol 41: 706–715.

    Google Scholar 

  10. Spillantini MG, Bird TD, Ghetti B (1998) Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathol 8: 387–402.

    Article  PubMed  CAS  Google Scholar 

  11. Poorkaj P, Bird TD, Wijsman E et al. (1998) Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 43: 815–825.

    Article  PubMed  CAS  Google Scholar 

  12. Hutton M, Lendon CL, Rizzu Pet al. (1998) Association of missense and 5’-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393: 702–705.

    Article  PubMed  CAS  Google Scholar 

  13. Spillantini MG, Murrell JR, Goedert M et al. (1998) Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 95: 7737–7741.

    Article  PubMed  CAS  Google Scholar 

  14. Goedert M, Wischik CM, Crowther RA et al. (1988) Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer’s disease. Proc Natl Acad Sci USA 85: 4051–4055.

    Article  PubMed  CAS  Google Scholar 

  15. Goedert M, Spillantini MG, Potier MC et al. (1989) 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. EMBO J 8: 393–399.

    PubMed  CAS  Google Scholar 

  16. Goedert M, Spillantini MG, Jakes R et al. (1989) Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer’s disease. Neuron 3: 519–526.

    Article  PubMed  CAS  Google Scholar 

  17. Goedert M, Jakes R (1990) Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization. EMBO J 9: 4225–4230.

    PubMed  CAS  Google Scholar 

  18. Andreadis A, Brown MW, Kosik KS (1992) Structure and novel exons of the human tau gene. Biochemistry 31: 10626–10633.

    Article  PubMed  CAS  Google Scholar 

  19. Gustke N, Trinczek B, Biernat Jet al. (1994) Domains of tau protein and interaction with microtubules. Biochemistry 33: 9511–9522.

    Article  PubMed  CAS  Google Scholar 

  20. Goode BL, Feinstein SC (1994) Identification of a novel microtubule-binding and assembly domain in the developmentally regulated inter-repeat region of tau. J Cell Biol 124: 769–782.

    Article  PubMed  CAS  Google Scholar 

  21. Dumanchin C, Camuzat A, Campion D et al. (1998) Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. Hum Mol Genet 7: 1825–1829.

    Article  PubMed  CAS  Google Scholar 

  22. Clark LN, Poorkaj P, Wszolek Z et al. (1998) 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 USA 95: 13103–13107.

    Article  PubMed  CAS  Google Scholar 

  23. Rizzu P, Van Swieten JC, Joosse M et al. (1999) High prevalence of mutations in the microtubule associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet 64: 414–421.

    Article  PubMed  CAS  Google Scholar 

  24. Iijima M, Tabira T, Poorkaj P et al. (1999) A distinct familial presenile dementia with a novel missense mutation in the tau gene. Neuroreport 10: 497–501.

    Article  PubMed  CAS  Google Scholar 

  25. Morris HR, Perez-Tur J, Janssen JC et al. (1999) Mutations in the tau exon 10 splice site region in familial frontotemporal dementia. Ann Neurol 45: 270–271.

    Article  PubMed  CAS  Google Scholar 

  26. Goedert M, Spillantini MG, Crowther RA et al. (1999) Tau gene mutation in familial progressive subcortical gliosis. Nat Med 5: 454–457.

    Article  PubMed  CAS  Google Scholar 

  27. Mirra SS, Murrell JR, Gearing M et al. (1999) Tau pathology in a family with dementia and a P301 L mutation in tau. J Neuropathol Exp Neurol 58: 333–345.

    Article  Google Scholar 

  28. Bird TD, Nochlin D, Poorkaj P et al. (1999) A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301 L). Brain 122: 741–756.

    Article  PubMed  Google Scholar 

  29. D’Souza I, Poorkaj P, Hong M et al. (1999) Missense and silent tau gene mutations cause frontotemporal dementia and parkinsonism - chromosome 17, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci USA 96: 5598–5603.

    Article  PubMed  Google Scholar 

  30. Bugiani O, Murrell JR, Giaccone G et al. (1999) Frontotemporal dementia and corticobasal degeneration in a family with a P301 S mutation in Tau. J Neuropathol Exp Neurol 58: 667–677.

    Article  PubMed  CAS  Google Scholar 

  31. Nasreddine ZS, Loginov M, Clark LN et al (1999) From genotype to phenotype: a clinical, pathological and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation. Ann Neurol 45: 704–715.

    Article  PubMed  CAS  Google Scholar 

  32. Delisle MB, Murrell J R, Richardson R et al. (1999) A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropathol 98: 62–77.

    Article  PubMed  CAS  Google Scholar 

  33. Houlden H, Baker M, Adamson J et al. (1999) Frequency of tau mutations in three series of non-Alzheimer’s degenerative dementia. Ann Neurol 46: 243–248.

    Article  PubMed  CAS  Google Scholar 

  34. Hulette CM, Pericak-Vance MA, Roses AD et al. (1999) Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17g21–22 (FTDP17): Duke family 1684. J Neuropathol Exp Neurol 58: 859–866.

    Article  PubMed  CAS  Google Scholar 

  35. Yasuda M, Kawamata T, Komure O et al. (1999) A mutation in the microtubuleassociated protein tau in pallido-nigro-luysian degeneration. Neurology 53: 864–868.

    Article  PubMed  CAS  Google Scholar 

  36. Van Swieten JC, Stevens M, Rosso SM et al. (1999) Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Ann Neurol 46: 617–626.

    Article  PubMed  Google Scholar 

  37. Sperfeld AD, Collatz MB, Baier H et al. (1999) FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. Ann Neurol 46: 708–715.

    Article  PubMed  CAS  Google Scholar 

  38. Murrell JR, Spillantini MG, Zolo P et al. (1999) Tau gene mutation G389R causes a tauopathy with abundant Pick body-like inclusions and axonal deposits. J Neuropathol Exp Neurol 58: 1207–1226.

    Article  PubMed  CAS  Google Scholar 

  39. Yasuda M, Takamatsu J, D’Souza I et al. (2000) A novel mutation at position +12 in the intron following exon 10 of the tau gene in familial frontotemporal dementia (FTDKumamoto). Ann Neurol 47: 422–429.

    Article  PubMed  CAS  Google Scholar 

  40. Stanford PM, Halliday GM, Brooks WS et al. (2000) 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 123: 880–893.

    Article  PubMed  Google Scholar 

  41. Hong M, Zhukareva V, Vogelsberg-Ragaglia V et al. (1998) Mutation specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science 282: 1914–1917.

    Article  PubMed  CAS  Google Scholar 

  42. Tolnay M, Spillantini MG, Rizzini C et al. (2000) A new case of frontotemporal dementia and parkinsonism resulting from an intron 10 +3-splice site mutation in the tau gene: clinical and pathological features. Neuropathol Appl Neurobiol 26: 368–378.

    Article  PubMed  CAS  Google Scholar 

  43. Rizzini C, Goedert M, Crowther RA et al. (2000) Tau gene mutation K257T causes a tauopathy similar to Pick’s disease. J Neuropathol Exp Neurol, in press.

    Google Scholar 

  44. Spillantini MG, Yoshida H, Rizzini C et al. (2000) A novel Tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies. Ann Neurol, in press.

    Google Scholar 

  45. Hasegawa M, Smith MJ, Goedert M (1998) Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly. FEBS Lett 437: 207–210.

    Article  PubMed  CAS  Google Scholar 

  46. Dayanandan R, Van Slegtenhorst M, Mack TGA et al. (1999) Mutations in tau reduce its microtubule binding properties in intact cells and affects its phosphorylation. FEBS Lett 446: 228–232.

    Article  PubMed  CAS  Google Scholar 

  47. DeTure M, Ko L-W, Yen S et al. (2000) Missense tau mutations identified in FTDP-17 have a small effect on tau microtubule interactions. Brain Res 853: 5–14.

    Article  PubMed  CAS  Google Scholar 

  48. Nacharaju P, Lewis J, Easson C et al. (1999) Accelerated filaments formation from tau protein with specific FTDP-17 mutations. FEBS Lett 447: 195–199.

    Article  PubMed  CAS  Google Scholar 

  49. Goedert M, Jakes R, Crowther RA (1999) Effects of frontotemporal dementia FTDP-17 mutations on heparin-induced assembly of tau filaments. FEBS Lett 450: 306–311.

    Article  PubMed  CAS  Google Scholar 

  50. Varani L, Hasegawa M, Spillantini MG et al. (1999) 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 USA 96: 8229–8234.

    Article  PubMed  CAS  Google Scholar 

  51. Grover A, Houlden H, Baker M et al. (1999) 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. J Biol Chem 274: 15134–15143.

    Article  PubMed  CAS  Google Scholar 

  52. Gao Q-S, Memmott J, Lafyatis R et al. (2000) Complex regulation of tau exon 10, whose missplicing causes frontotemporal dementia. J Neurochem 74: 490–500.

    Article  PubMed  CAS  Google Scholar 

  53. Jiang Z, Cote J, Kwon JM et al. (2000) Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17. Mol Cell Biol 20: 4036–4048.

    Article  PubMed  CAS  Google Scholar 

  54. Varani L, Spillantini MG, Goedert M et al. (2000) Structural basis for recognition of the RNA major groove in the tau exon 10 splicing regulatory element by aminoglycoside antibiotics. Nucl Ac Res 28: 710–719.

    Article  CAS  Google Scholar 

  55. Hasegawa M, Smith MJ, lijima M et al. (1999) FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10. FEBS Lett 443: 93–96.

    Article  PubMed  CAS  Google Scholar 

  56. D’Souza I, Schellenberg GD (2000) Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion. J Biol Chem 275: 17700–17709.

    Article  PubMed  Google Scholar 

  57. Spillantini MG, Goedert M, Crowther RA et al. (1997) Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments. Proc Natl Acad Sci USA 94: 4113–4118.

    Google Scholar 

  58. Goedert M, Crowther RA, Spillantini MG (1998) Tau mutations cause frontotemporal dementias. Neuron 21: 955–958.

    Google Scholar 

  59. Spillantini MG, Crowther RA, Kamphorst W et al. (1998) Tau pathology in two Dutch families with tau mutations in the microtubule binding region of tau. Am J Pathol 153: 1359–1363.

    Google Scholar 

  60. Goedert M, Spillantini MG, Cairns NJ et al. (1992) Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms. Neuron 8: 159–168.

    Google Scholar 

  61. Spillantini MG, Crowther RA, Goedert M (1996) Comparison of the neurofibrillary pathology in Alzheimer’s disease and familial presenile dementia with tangles. Acta Neuropathol 92: 42–48.

    Google Scholar 

  62. Kato S, Nakamura H (1990) Presence of two different fibril subtypes in the Pick body: an immunoelectron microscopic study. Acta Neuropathol 81: 125–129.

    Article  PubMed  CAS  Google Scholar 

  63. Murayama S, Mori H, Ihara Y et al. (1990) Immunohistochemica1 and ultrastructural studies of Pick’s disease. Ann Neurol 27: 394–404.

    Article  PubMed  CAS  Google Scholar 

  64. Matsumura N, Yamazaki T, Ihara Y (1999) Stable expression in Chinese hamster ovary cells of mutated tau genes causing frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Am J Pathol 154: 1649–1659.

    Article  PubMed  CAS  Google Scholar 

  65. Bramblett GT, Goedert M, Jakes R et al. (1993) Abnormal tau phosphorylation at Ser396 in Alzheimer’s disease recapitulates development and contributes to reduced microtubule binding. Neuron 19: 1089–1099.

    Article  Google Scholar 

  66. Yoshida H, Ihara Y (1993) Tau in paired helical filament is functionally distinct from fetal tau: assembly incompetence of paired helical filament tau. J. Neurochem 61: 1183–1186.

    Article  PubMed  CAS  Google Scholar 

  67. Goedert M, Jakes R, Spillantini MG et al. (1996) Assembly of microtubule-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans. Nature 383: 550–553.

    Article  PubMed  CAS  Google Scholar 

  68. Perez M, Valpuesta JM, Medina M et al. (1996) Polymerization of tau into filaments in the presence of heparin: the minimal sequence required for tau-tau interactions. J Neurochem 67: 1183–1190.

    Article  PubMed  CAS  Google Scholar 

  69. Kampers T, Friedhoff P, Biernat J et al. (1996) RNA stimulates aggregation of microtubule-associated protein tau into Alzheimer-like paired helical filaments. FEBS Lett 399: 344–349.

    Article  PubMed  CAS  Google Scholar 

  70. Hasegawa M, Crowther RA, Jakes R et al. (1997) Alzheimer-like changes in microtubule-associated protein tau induced by sulfated glycosaminoglycans. Inhibition of microtubule binding, stimulation of phosphorylation and filament assembly depend on the degree of sulfation. J Biol Chem 272: 33118–33124.

    Article  PubMed  CAS  Google Scholar 

  71. Friedhoff P, von Bergen M, Mandelkow EM et al. (1998) A nucleated assembly mechanism of Alzheimer paired helical filaments. Proc Natl Acad Sci USA 95: 15712–15717.

    Google Scholar 

  72. Wischik CM, Novak M, Thogersen HC et al. (1988) Isolation of a fragment of tau derived from the core of the paired helical filament of Alzheimer disease. Proc Natl Acad Sci USA 85: 4506–4510.

    Article  PubMed  CAS  Google Scholar 

  73. Crowther RA (1991) Structural aspects of pathology in Alzheimer’s disease. Biochem Biophys Acta 1069: 1–9.

    Article  Google Scholar 

  74. Flament S, Delacourte A, Vernay M et al. (1991) Abnormal tau proteins in progressive supranuclear palsy. Similarities and differences with the neurofibrillary degeneration of the Alzheimer type. Acta Neuropathol 81: 591–596.

    Article  PubMed  CAS  Google Scholar 

  75. Ksiezak-Reding H, Morgan K, Mattiace LA et al. (1994) Ultrastructure and biochemical composition of paired helical filaments in corticobasal degeneration. Am J Pathol 145: 1496–1508.

    PubMed  CAS  Google Scholar 

  76. Sergeant N, Wattez A, Delacourte A (1999) Neurofibrillary degeneration in progressive supranuclear palsy and corticobasal degeneration: Tau pathologies with exclusively “exon 10” isoforms. J Neurochem 72: 1243–1249.

    Article  PubMed  CAS  Google Scholar 

  77. Chambers CB, Lee JM, Troncoso JC et al. (1999) Overexpression of four-repeat tau mRNA isoforms in progressive supranuclear palsy but not in Alzheimer’s disease. Ann Neurol 46: 325–332.

    Article  PubMed  CAS  Google Scholar 

  78. Conrad C, Andreadis A, Trojanowski JQ et al. (1997) Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 41: 277–281.

    Article  PubMed  CAS  Google Scholar 

  79. Baker M, Litvan I, Houlden H et al. (1999) Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 8: 711–715.

    Article  PubMed  CAS  Google Scholar 

  80. Delacourte A, Robitaille Y, Sergeant N et al. (1996) Specifc pathological tau protein variants characterize Pick’s disease. J Neuropathol Exp Neurol 55: 159–168.

    Article  PubMed  CAS  Google Scholar 

  81. Delacourte A, Sergeant N, Wattez A et al. (1998) Vulnerable subsets in Alzheimer’s and Pick’s disease are distinguished by their tau isoform distribution and phosphorylation. Ann Neurol 43: 193–204.

    Article  PubMed  CAS  Google Scholar 

  82. Cohen P, Goedert M (1999) Engineering protein kinases with distinct nucleotide specificities and inhibitor sensitivities by mutation of a single amino acid. Chem Biol 5: R161–R164.

    Article  Google Scholar 

  83. Thomas GM, Frame S, Goedert M et al. (1999) A GSK3-binding peptide from FRATI selectively inhibits GSK3-catalysed phosphorylation of axin and B-catenin. FEBS Lett. 458: 247–251.

    Article  PubMed  CAS  Google Scholar 

  84. Lu P-J, Wulf G, Zhou XZ et al. (1999) The prolyl isomerase Pinl restores the function of Alzheimer-associated phosphorylated tau protein. Nature 399: 784–788.

    Article  PubMed  CAS  Google Scholar 

  85. Tseng H-C, Lu Q, Henderson E, Graves DJ (1999) Phosphorylated tau can promote tubulin assembly. Proc Natl Acad Sci USA 96: 9503–9508.

    Article  PubMed  CAS  Google Scholar 

  86. Götz J, Probst A, Spillantini MG et al. (1995) Somatodendritic localization and hyperphosphorylation of tau protein in transgenic mice expressing the longest human brain tau isoform. EMBO J 14: 1304–1313.

    PubMed  Google Scholar 

  87. Brion JP, Tremp G, Octave JN (1999) Transgenic expression of the shortest tau affects its compartmentalization and its phosphorylation as in the pretangle stage of Alzheimer’s disease. Am J Pathol 154: 255–270.

    Article  PubMed  CAS  Google Scholar 

  88. Ishihara T, Hong M, Zhang B et al. (1999) Age-dependent emergence and progression of a tauopathy in transgenic mice overexpressing the shortest human tau isoform. Neuron 24: 751–762.

    Article  PubMed  CAS  Google Scholar 

  89. Spittaels K, Van den Haute C, Van Dorpe J et al. (1999) Prominent axonopathy in the brain and spinal cord of transgenic mice overexpressing four-repeat human tau protein. Am J Pathol 155: 2153–2165.

    Article  PubMed  CAS  Google Scholar 

  90. Probst A, Götz J, Wiederhold K-H et al. (2000) Axonopathy and amyotrophy in mice transgenic for human four-repeat tau protein. Acta Neuropathol 99: 469–481.

    Article  PubMed  CAS  Google Scholar 

  91. Duff K, Knoght H, Refolo LM et al. (2000) Characterization of pathology in transgenic mice over-expressing human genomic and cDNA tau transgenes. Neurobiol Dis 8: 87–98.

    Article  Google Scholar 

  92. Lewis J, McGowan E, Rockwood J et al. (2000) Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein. Nat Genet 25: 402–425.

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Brain Repair Centre and Department of Neurology, University of Cambridge, Forvie site, Robinson way, Cambridge, CB2 2PY, UK

    Maria G. Spillantini

  2. MRC Laboratory of Molecular Biology, Hills Road, Cambridge, CB2 2QH, UK

    Michel Goedert

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  1. Maria G. Spillantini
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  1. University of Basel, Basel, Switzerland

    Markus Tolnay  & Alphonse Probst  & 

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Spillantini, M.G., Goedert, M. (2001). Tau Gene Mutations and Tau Pathology in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17. In: Tolnay, M., Probst, A. (eds) Neuropathology and Genetics of Dementia. Advances in Experimental Medicine and Biology, vol 487. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-1249-3_3

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