The spectrum of tau pathology in human prion disease

Prions and Diseases

Volumn 2, Issue , 2013, Pages 103-119

  Kovacs, Gabor G ^a   Budka, Herbert ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Alzheimer disease; Argyrophilic grain disease; Cerebral amyloid angiopathy; Corticobasal degeneration; Creutzfeldt Jakob disease; Dementia with Lewy bodies; Fatal familial insomnia; Gerstmann Str ussler Scheinker disease; Glycogen synthase kinase 3 ; Neurodegenerative disease; Neurofibrillary tangle; Prion protein; Prion protein gene; Progressive supranuclear palsy; Proteinase K

Indexed keywords

EID: 84923034800     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-1-4614-5338-3_7     Document Type: Chapter

References (63)

1. Andreadis A, Brown WM, Kosik KS (1992) Structure and novel exons of the human tau gene. Biochemistry 31:10626-10633
2. Bancher C, Brunner C, Lassmann H et al (1989a) Tau and ubiquitin immunoreactivity at different stages of formation of Alzheimer neuro fibrillary tangles. Prog Clin Biol Res 317:837-848
3. Bancher C, Brunner C, Lassmann H et al (1989b) Accumulation of abnormally phosphorylated tau precedes the formation of neuro fibrillary tangles in Alzheimer's disease. Brain Res 477:90-99
4. Bigio EH, Lipton AM, Yen SH et al (2001) Frontal lobe dementia with novel tauopathy: sporadic multiple system tauopathy with dementia. J Neuropathol Exp Neurol 60:328-341
5. Botez G, Probst A, Ipsen S, Tolnay M (1999) Astrocytes expressing hyperphosphorylated tau protein without glial fibrillary tangles in argyrophilic grain disease. Acta Neuropathol 98:251-256
6. Braak H, Braak E (1991) Neuropathological staging of Alzheimer-related changes. Acta Neuropathol 82:239-259
7. Cairns NJ, Bigio EH, Mackenzie IR et al (2007) Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration. Acta Neuropathol 114:5-22
8. Dickson DW, Rademakers R, Hutton ML (2007) Progressive supranuclear palsy: pathology and genetics. Brain Pathol 17:74-82
9. Gambetti P, Dong Z, Yuan J et al (2008) A novel human disease with abnormal prion protein sensitive to protease. Ann Neurol 63:697-708
10. Ghetti B, Tagliavini F, Masters CL et al (1989) Gerstmann-Straussler-Scheinker disease II. Neuro fibrillary tangles and plaques with PrP-amyloid coexist in an affected family. Neurology 39:1453-1461
11. Ghetti B, Dlouhy SR, Giaccone G et al (1995) Gerstmann-Straussler-Scheinker disease and the Indiana kindred. Brain Pathol 5:61-75
12. Ghetti B, Piccardo P, Frangione B et al (1996a) Prion protein amyloidosis. Brain Pathol 6:127-145
13. Ghetti B, Piccardo P, Spillantini MG et al (1996b) Vascular variant of prion protein cerebral amyloidosis with tau-positive neuro fibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP. Proc Natl Acad Sci U S A 93:744-748
14. Ghetti B, Tagliavini F, Takao M, Bugiani O, Piccardo P (2003) Hereditary prion protein amyloidoses. Clin Lab Med 23: 65-85, viii
15. Ghetti B, Tagliavini F, Kovacs GG, Piccardo P (2011) Gerstmann-Sträussler-Scheinker Disease. In: Dickson DW, Weller RO (eds) Neurodegeneration: the molecular pathology of dementia and movement disorders, 2nd edn. Wiley-Blackwell, New Jersey
16. Ghoshal N, Cali I, Perrin RJ et al (2009) Codistribution of amyloid beta plaques and spongiform degeneration in familial Creutzfeldt-Jakob disease with the E200K-129M haplotype. Arch Neurol 66:1240-1246
17. Giaccone G, Tagliavini F, Verga L et al (1990) Neuro fibrillary tangles of the Indiana kindred of Gerstmann-Straussler-Scheinker disease share antigenic determinants with those of Alzheimer disease. Brain Res 530:325-329
18. Giaccone G, Mangieri M, Capobianco R et al (2008) Tauopathy in human and experimental variant Creutzfeldt-Jakob disease. Neurobiol Aging 29:1864-1873
19. Goedert M (2005) Tau gene mutations and their effects. Mov Disord 20(Suppl 12):S45-52
20. Goedert M, Klug A, Crowther RA (2006) Tau protein, the paired helical filament and Alzheimer's disease. J Alzheimers Dis 9:195-207
21. Hainfellner JA, Wanschitz J, Jellinger K, Liberski PP, Gullotta F, Budka H (1998) Coexistence of Alzheimer-type neuropathology in Creutzfeldt-Jakob disease. Acta Neuropathol 96:116-122
22. Head MW, Lowrie S, Chohan G, Knight R, Scoones DJ, Ironside JW (2010) Variably proteasesensitive prionopathy in a PRNP codon 129 heterozygous UK patient with co-existing tau, alpha synuclein and Abeta pathology. Acta Neuropathol 120:821-823
23. Höftberger R, Kovacs GG, Ströbel T, Budka H (2011) Genetic Creutzfeldt-Jakob disease in Austria: Novel mutations and phenotypes. Prion 5:32
24. Holton JL, Ghiso J, Lashley T et al (2001) Regional distribution of amyloid-Bri deposition and its association with neuro fibrillary degeneration in familial British dementia. Am J Pathol 158:515-526
25. Ishizawa K, Komori T, Shimazu T et al (2002) Hyperphosphorylated tau deposition parallels prion protein burden in a case of Gerstmann-Straussler-Scheinker syndrome P102L mutation complicated with dementia. Acta Neuropathol (Berl) 104:342-350
26. Jansen C, Parchi P, Jelles B et al (2011a) The first case of Fatal Familial Insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent 4 repeat tau deposits. Neuropathol Appl Neurobiol 37:549-553
27. Jansen C, Voet W, Head MW et al (2011b) A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Straussler-Scheinker disease phenotype: comparison with similar cases from the literature. Acta Neuropathol 121:59-68
28. Jeong BH, Jeon YC, Lee YJ et al (2010) Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene (PRNP) and a 17 kDa prion protein fragment. Neuropathol Appl Neurobiol 36:558-563
29. Kawashima T, Doh-ura K, Iwaki T (1999) Argyrophilic grains in late-onset Creutzfeldt-Jakob diseased brain. Pathol Int 49:369-373
30. Kopke E, Tung YC, Shaikh S, Alonso AC, Iqbal K, Grundke-Iqbal I (1993) Microtubule-associated protein tau. Abnormal phosphorylation of a non-paired helical filament pool in Alzheimer disease. J Biol Chem 268:24374-24384
31. Kovacs GG, Budka H (2009a) Molecular pathology of human prion diseases. Int J Mol Sci 10:976-999
32. Kovacs GG, Budka H (2009b) Protein-based neuropathology and molecular classi fication of human neurodegenerative diseases. In: Ovadi J, Orosz F (eds) Protein folding and misfolding: neurodegenerative diseases. Springer, Netherlands, pp 251-272
33. Kovacs GG, Alafuzoff I, Al-Sarraj S et al (2008a) Mixed brain pathologies in dementia: the BrainNet Europe consortium experience. Dement Geriatr Cogn Disord 26:343-350
34. Kovacs GG, Majtenyi K, Spina S et al (2008b) White matter tauopathy with globular glial inclusions: a distinct sporadic frontotemporal lobar degeneration. J Neuropathol Exp Neurol 67:963-975
35. Kovacs GG, Botond G, Budka H (2010) Protein coding of neurodegenerative dementias: the neuropathological basis of biomarker diagnostics. Acta Neuropathol 119:389-408
36. Kovacs GG, Molnar K, Laszlo L et al (2011a) A peculiar constellation of tau pathology de fines a subset of dementia in the elderly. Acta Neuropathol 122:205-222
37. Kovacs GG, Seguin J, Quadrio I et al (2011b) Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. Acta Neuropathol 121:39-57
38. Ladogana A, Sanchez-Juan P, Mitrova E et al (2009) Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies. J Neurol 256:1620-1628
39. Lawson VA, Klemm HM, Welton JM et al (2011) Gene knockout of tau expression does not contribute to the pathogenesis of prion disease. J Neuropathol Exp Neurol 70:1036-1045
40. Lee VM, Goedert M, Trojanowski JQ (2001) Neurodegenerative tauopathies. Annu Rev Neurosci 24:1121-1159
41. Mirra SS, Heyman A, McKeel D et al (1991) The consortium to establish a registry for Alzheimer's disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 41:479-486
42. Mohr M, Tranchant C, Steinmetz G, Floquet J, Grignon Y, Warter JM (1999) Gerstmann-Straussler- Scheinker disease and the French-Alsatian A117V variant. Clin Exp Pathol 47:161-175
43. Perez M, Rojo AI, Wandosell F, Diaz-Nido J, Avila J (2003) Prion peptide induces neuronal cell death through a pathway involving glycogen synthase kinase 3. Biochem J 372:129-136
44. Piccardo P, Dlouhy SR, Lievens PM et al (1998) Phenotypic variability of Gerstmann-Straussler- Scheinker disease is associated with prion protein heterogeneity. J Neuropathol Exp Neurol 57:979-988
45. Powers JM, Byrne NP, Ito M et al (2003) A novel leukoencephalopathy associated with tau deposits primarily in white matter glia. Acta Neuropathol 106:181-187
46. Preusser M, Strobel T, Gelpi E et al (2006) Alzheimer-type neuropathology in a 28 year old patient with iatrogenic Creutzfeldt-Jakob disease after dural grafting. J Neurol Neurosurg Psychiatry 77:413-416
47. Quadrio I, Perret-Liaudet A, Kovacs GG (2011) Molecular diagnosis of human prion disease. Expert Opin Med Diagn 5:291-306
48. Reiniger L, Lukic A, Linehan J et al (2011) Tau, prions and Abeta: the triad of neurodegeneration. Acta Neuropathol 121:5-20
49. Reynolds CH, Garwood CJ, Wray S et al (2008) Phosphorylation regulates tau interactions with Src homology 3 domains of phosphatidylinositol 3-kinase, phospholipase Cgamma1, Grb2, and Src family kinases. J Biol Chem 283:18177-18186
50. Roeber S, Krebs B, Neumann M et al (2005) Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment. Acta Neuropathol (Berl) 109:443-448
51. Saito Y, Ruberu NN, Sawabe M et al (2004) Staging of argyrophilic grains: an age-associated tauopathy. J Neuropathol Exp Neurol 63:911-918
52. Sanchez-Juan P, Bishop MT, Green A et al (2007) No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease. BMC Med Genet 8:77
53. Sergeant N, Delacourte A, Buee L (2005) Tau protein as a differential biomarker of tauopathies. Biochim Biophys Acta 1739:179-197
54. Sikorska B, Liberski PP, Sobow T, Budka H, Ironside JW (2009) Ultrastructural study of florid plaques in variant Creutzfeldt-Jakob disease: a comparison with amyloid plaques in kuru, sporadic Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker disease. Neuropathol Appl Neurobiol 35:46-59
55. Tsuchiya K, Yagishita S, Ikeda K et al (2004) Coexistence of CJD and Alzheimer's disease: an autopsy case showing typical clinical features of CJD. Neuropathology 24:46-55
56. van Swieten J, Spillantini MG (2007) Hereditary frontotemporal dementia caused by Tau gene mutations. Brain Pathol 17:63-73
57. Wang XF, Dong CF, Zhang J et al (2008) Human tau protein forms complex with PrP and some GSS- and fCJD-related PrP mutants possess stronger binding activities with tau in vitro. Mol Cell Biochem 310:49-55
58. Wang GR, Shi S, Gao C et al (2010) Changes of tau pro files in brains of the hamsters infected with scrapie strains 263 K or 139 A possibly associated with the alteration of phosphate kinases. BMC Infect Dis 10:86
59. Williams DR, Holton JL, Strand C et al (2007) Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome. Brain 130:1566-1576
60. Yamada M, Itoh Y, Inaba A et al (1999) An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity. Neurology 53:181-188
61. Yamazaki M, Oyanagi K, Mori O et al (1999) Variant Gerstmann-Straussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neuro fibrillary tangles. Acta Neuropathol 98:506-511
62. Yoshida H, Terada S, Ishizu H et al (2010) An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology. Neuropathology 30:159-164
63. Zou WQ, Puoti G, Xiao X et al (2010) Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein. Ann Neurol 68:162-172