Neurofibrillary tangle Parkinsonian disorders - Tau pathology and tau genetics

Movement Disorders

Volumn 14, Issue 5, 1999, Pages 731-736

  Morris, Huw R ^a   Lees, Andrew J ^b,c   Wood, Nicholas W ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Dementia; FTDP 17; Pathology; Progressive supranuclear palsy; Tau

Indexed keywords

TAU PROTEIN;

ALTERNATIVE RNA SPLICING; CLINICAL FEATURE; CORTICOBASAL DEGENERATION; DISEASE CLASSIFICATION; DISEASE PREDISPOSITION; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETICS; HUMAN; NEUROFIBRILLARY TANGLE; NIEMANN PICK DISEASE; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; REVIEW; TOPOGRAPHY;

BRAIN; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 17; DEMENTIA; GENES; HUMANS; NEUROFIBRILLARY TANGLES; PARKINSONIAN DISORDERS; POINT MUTATION; TAU PROTEINS;

EID: 0032737326     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8257(199909)14:5<731::AID-MDS1004>3.0.CO;2-J     Document Type: Review

References (48)

1. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.
2. Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705.
3. Spillantini MG, Crowther RA, Jakes R, Hasegawa M, Goedert M. Alpha-synuclein in filamentous inclusions of Lewy bodies from Parkinson's disease and dementia with Lewy bodies. Proc Natl Acad Sci USA 1998;95:6469-6473.
4. Spillantini MG, Crowther RA, Jakes R, Cairns NJ, Lantos PL, Goedert M. Filamentous alpha-synuclein inclusions link multiple system atrophy with Parkinson's disease and dementia with Lewy bodies. Neurosci Lett 1998;251:205-208.
5. Kruger R, Kuhn W, Muller T, et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 1998; 18:106-108.
6. Dickson DW. Neurogenerative diseases with cytoskeletal pathology: a biochemical classification. Ann Neurol 1997;42:541-544.
7. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998; 392:605-608.
8. Mori H, Kondo T, Yokochi M, et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 1998;51:890-892.
9. Drubin DG, Kirschner MW. Tau protein function in living cells. J Cell Biol 1986;103:2739-2746.
10. Steele J, Richardson JC, Olszewski J. Progressive supranuclear palsy. A heterogeneous system degeneration involving brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia. Arch Neurol 1964;10:333-359.
11. Hardman CD, Halliday GM, McRitchie DA, Morris JG. The subthalamic nucleus in Parkinson's disease and progressive supranuclear palsy. J Neuropathol Exp Neurol 1997;56:132-142.
12. Hauw J-J, Daniel SE, Dickson D, et al. Preliminary NINDS neuropathologic criteria for Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). Neurology 1994;44:2015-2019.
13. Hardman CD, Halliday GM, McRitchie DA, Cartwright HR, Morris JG. Progressive supranuclear palsy affects both the substantia nigra pars compacta and reticulata. Exp Neurol 1997;144:183-192.
14. Juncos JL, Hirsch EC, Malessa S, Duyckaerts C, Hersh LB, Agid Y. Mesencephalic cholinergic nuclei in progressive supranuclear palsy. Neurology 1991;41:25-30.
15. Geddese JF, Hughes AJ, Lees AJ, Daniel SE. Pathological overlap in cases of parkinsonism associated with neurofibrillary tangles. A study of recent cases of postencephalitic parkinsonism and comparison with progressive supranuclear palsy and Guamanian parkinsonism-dementia complex. Brain 1993;116:281-302.
16. Gibb WR, Luthert PJ, Marsden CD. Corticobasal degeneration. Brain 1989;112:1171-1192.
17. Feany MB, Dickson DW. Neurodegenerative disorders with extensive tau pathology: a comparative study and review. Ann Neurol 1996;40:139-148.
18. Suzuki K, Parker CC, Pentchev PG, et al. Neurofibrillary tangles in Niemann-Pick disease type C. Acta Neuropathol (Berl) 1995;89: 227-238.
19. Mandybur TI. The distribution of Alzheimer's neurofibrillary tangles and gliosis in chronic subacute sclerosing panencephalitis. Acta Neuropathol (Berl) 1990;80:307-310.
20. Corsellis JA, Bruton CJ, Freeman-Browne D. The aftermath of boxing. Psychol Med 1973;3:270-303.
21. Wenning GK, Jellinger K, Litvan I. Supranuclear gaze palsy and eyelid apraxia in postencephalitis parkinsonism. J Neurol Transm 1997;104:845-865.
22. Lepore FE, Steele JC, Cox TA, et al. Supranuclear disturbances of ocular motility in Lytico-Bodig. Neurology 1988;38:1849-1853.
23. Dickson DW. Pick's disease: a modern approach. Brain Pathol 1998;8:339-354.
24. Hirano A, Melamud N, Kurland LT. Parkinsonism-dementia complex, and endemic disease on the island of Guam. II: pathological features. Brain 1961;84:662-679.
25. Chin SS, Goldman JE. Glial inclusions in CNS degenerative diseases. J Neuropathol Exp Neurol 1996;55:499-508.
26. Goedert M. Tau protein and the neurofibrillary pathology of Alzheimer's disease. Trends Neurosci 1993;16:460-465.
27. Mailliot C, Sergeant N, Bussiere T, Caillet-Boudin ML, Delacourte A, Buee L. Phosphorylation of specific sets of tau isoforms reflects different neurofibrillary degeneration processes. FEBS Lett 1998; 433:201-204.
28. Roy S, Datta CK, Hirano A, Ghatak NR, Zimmerman HM. Electron microscopic study of neurofibrillary tangles in Steele-Richardson-Olszewski syndrome. Acta Neuropathol (Berl) 1974; 29:175-179.
29. Delacourte A, Robitaille Y, Sergeant N, et al. Specific pathological tau protein variants characterize Pick's disease. J Neuropathol Exp Neurol 1996;55:159-168.
30. Delacourte A, Sergeant N, Wattez A, Gauvreau D, Robitaille Y. Vulnerable neuronal subsets in Alzheimer's and Pick's disease are distinguished by their tau isoform distribution and phosphorylation. Ann Neurol 1998;43:193-204.
31. Goedert M, Jakes R, Spillantini MG, Hasegawa M, Smith MJ, Crowther RA. Assembly of microtubule-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans. Nature 1996;383:550-553.
32. Foster NL, Wilhelmsen K, Sima AA, Jones MZ, D'Amaro CJ, Gilman S. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants. Ann Neurol 1997;41:706-715.
33. Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 1994;55:1159-1165.
34. Sima AA, Defendini R, Keohane C, et al. The neuropathology of chromosome 17-linked dementia. Ann Neurol 1996;39:734-743.
35. Spillantini MG, Bird TD, Ghetti B. Frontotemporal dementia and parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathol 1998;8:387-402.
36. Poorkaj P, Bird TD, Wijsman E, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998;43: 815-825.
37. Dumanchin C, Camuzat A, Campion D, et al. Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. Hum Mol Genet 1998;7:1825-1829.
38. Spillantini MG, Murrell JR, Goedert M, Farlow MR, Klug A, Ghetti B. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 1998; 95:7737-7741.
39. Morris HR, Perez-Tur J, Janssen JC, et al. Mutation in the tau exon 10 splice site region in familial frontotemporal dementia. Ann Neurol 1999;45:270-271.
40. Hardy J, Duff K, Gwinn-Hardy K, Perez-Tur J, Hutton M. Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau. Nature Neuroscience 1998;1:355-359.
41. Spillantini MG, Goedert M, Crowther RA, Murrell JR, Farlow MR, Ghetti B. Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments. Proc Natl Acad Sci USA 1997;94:4113-4118.
42. Conrad C, Andreadis A, Trojanowski JW, et al. Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 1997;41:277-281.
43. Higgins JJ, Litvan I, Pho LT, Li W, Nee LE. Progressive supranuclear gaze palsy is in linkage disequilibrium with the tau and not the alpha-synuclein gene. Neurology 1998;50:270-273.
44. Morris HR, Janssen JC, Bandmann O, et al. The tau gene A0 polymorphism in progressive supranuclear palsy and related neurodegenerative diseases. J Neurol Neurosurg Psychiatry 1999;66: 665-667.
45. Oliva R, Tolosa E, Ezquerra M, et al. Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection. Arch Neurol 1998;55:1122-1124.
46. Bennett P, Bonifati V, Bonuccelli U, et al. Direct genetic evidence for involvement of tau in progressive supranuclear palsy. European Study Group on Atypical Parkinsonism Consortium. Neurology 1998;51:982-985.
47. Lazzarini AM, Golbe LI, Dickson DW, Duvoisin RC, Johnson WG. Tau intronic polymorphism in Parkinson's disease and progressive supranuclear palsy [Abstract]. Neurology 1997;48:A427.
48. Baker M, Litvan I, Houlden H, et al. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 1999;8:711-715.