Progressive supranuclear palsy and tau hyperphosphorylation in a patient with a C212Y parkin mutation

Journal of Alzheimer's Disease

Volumn 4, Issue 5, 2002, Pages 399-404

  Sánchez, Marina P ^a,b   Gonzalo, Isabel ^c   Ávila, Jesús ^a   De Yébenes, Justo García ^b,c  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^c UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

LIGASE; PARKIN; TAU PROTEIN; UBIQUITIN;

AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; GENE; GENE FUNCTION; GENE MUTATION; GENETIC CODE; GENETIC RISK; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; PARK 2 GENE; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; PROTEIN PHOSPHORYLATION; RISK FACTOR;

EID: 0036812559     PISSN: 13872877     EISSN: None     Source Type: Journal    
DOI: 10.3233/JAD-2002-4506     Document Type: Article

References (34)

1. M. Baker, I. Litvan, H. Houlden, J. Adamson, D. Dickson, J. Perez-Tur, J. Hardy, T. Lynch, E. Bigio and M. Hutton, Association of an extended haplotype in the tau gene with progressive supranuclear palsy, Hum Mol Genet 8 (1999), 711-715.
2. C. Conrad, A. Andreadis, J.Q. Trojanowski, D.W. Dickson, D. Kang, X. Chen, W. Wiederholt, L. Hansen, E. Masliah, L.J. Thal, R. Katzman, Y. Xia and T. Saitoh, Genetic evidence for the involvement of tau in progressive supranuclear palsy [see comments], Ann Neurol 41 (1997), 277-281.
3. V. D'Agata, M. Grimaldi, A. Pascale and S. Cavallaro, Regional and cellular expression of the parkin gene in the rat cerebral cortex, Eur J Neurosci 12 (2000), 3583-3588.
4. M.B. Delisle, J.R. Murrell, R. Richardson, J.A. Trofatter, O. Rascol, X. Soulages, M. Mohr, P. Calvas and B. Ghetti, A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy, Acta Neuropathol 98 (1999), 62-77.
5. M. Farrer, P. Chan, R. Chen, L. Tan, S. Lincoln, D. Hernandez, L. Forno, K. Gwinn-Hardy, L. Petrucelli, J. Hussey, A. Singleton, C. Tanner, J. Hardy and J.W. Langston, Lewy bodies and parkinsonism in families with parkin mutations, Ann Neurol 50 (2001), 293-300.
6. M. Goedert, R.A. Crowther and M.G. Spillantini, Tau mutations cause frontotemporal dementias, Neuron 21 (1998), 955-958.
7. S.G. Greenberg, P. Davies, J.D. Schein and L.I. Binder, Hydrofluoric acid-treated tau PHF proteins display the same biochemical properties as normal tau, J Biol Chem 267 (1992), 564-569.
8. I. Grundke-Iqbal, K. Iqbal, Y.C. Tung, M. Quinlan, H.M. Wisniewski and L.I. Binder, Abnormal phosphorylation of the microtubule-associated protein tau (tau) in Alzheimer cytoskeletal pathology, Proc Natl Acad Sci USA 83 (1986), 4913-4917.
9. N. Hattori, H. Shimura, S. Kubo, T. Kitada, M. Wang, S. Asakawa, S. Minashima, N. Shimizu, T Suzuki, K. Tanaka and Y Mizuno, Autosomal recessive juvenile parkinsonism: A key to understanding nigral degeneration in sporadic Parkinson's disease [In Process Citation], Neuropathology 20 (2000), S85-90.
10. J.J. Higgins, R.L. Adler and J.M. Loveless, Mutational analysis of the tau gene in progressive supranuclear palsy, Neurology 53 (1999), 1421-1424.
11. J. Hoenicka, M. Perez, J. Perez-Tur, A. Barabash, M. Godoy, L. Vidal, R. Astarloa, J. Avila, T. Nygaard and J.G. de Yebenes, The tau gene A0 allele and progressive supranuclear palsy, Neurology 53 (1999), 1219-1225.
12. J. Hoenicka, L. Vidal, B. Morales, I. Ampuero, F.J. Jiménez-Jiménez, J. Berciano, T. del Ser, A. Jiménez, P.G. Ruíz and J. García de Yébenes, Molecular Findings in Parkinson's disease in Spain, Archives of Neurology (in press).
13. M. Hong, V. Zhukareva, V. Vogelsberg-Ragaglia, Z. Wszolek, L. Reed, B.I. Miller, D.H. Geschwind, T.D. Bird, D. McKeel, A. Goate, J.C. Morris, K.C. Wilhelmsen, G.D. Schellenberg, J.Q. Trojanowski and V.M. Lee, Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17, Science 282 (1998), 1914-1917.
14. M. Hutton, C.L. Lendon, P. Rizzu, M. Baker, S. Froelich, H. Houlden, S. Pickering-Brown, S. Chakraverty, A. Isaacs, A. Grover, J. Hackett, J. Adamson, S. Lincoln, D. Dickson, P. Davies, R.C. Petersen, M. Stevens, E. de Graaff, E. Wauters, J. van Baren, M. Hillebrand, M. Joosse, J.M. Kwon, P. Nowotny and P. Heutink et al., Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17, Nature 393 (1998), 702-705.
15. G.V. Johnson, R.S. Jope and L.I. Binder, Proteolysis of tau by calpain, Biochem Biophys Res Commun 163 (1989), 1505-1511.
16. T. Kitada, S. Asakawa, N. Hattori, H. Matsumine, Y. Yamamura, S. Minoshima, M. Yokochi, Y. Mizuno and N. Shimizu, Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism [see comments], Nature 392 (1998), 605-608.
17. E. Leroy, R. Boyer and M.H. Polymeropoulos, Intron-exon structure of ubiquitin c-terminal hydrolase-L1, DNA Res 5 (1998), 397-400.
18. E. Leroy, R. Boyer, G. Auburger, B. Leube, G. Ulm, E. Mezey, G. Harta. M.J. Brownstein, S. Jonnalagada, T. Chernova, A. Dehejia, C. Lavedan, T. Gasser, P.J. Steinbach, K.D. Wilkinson and M.H. Polymeropoulos, The ubiquitin pathway in Parkinson's disease, Nature 395 (1998), 451-452.
19. J.M. Litersky and G.V. Johnson, Phosphorylation of tau in situ: Inhibition of calcium-dependent proteolysis, J Neurochem 65 (1995), 903-911.
20. C.B. Lucking, A. Durr, V. Bonifati, J. Vaughan, G. De Michele, T. Gasser, B.S. Harhangi, G. Meco, P. Denefle, N.W. Wood, Y. Agid and A. Brice, Association between early-onset Parkinson's disease and mutations in the parkin gene, French Parkinson's Disease Genetics Study Group, N Engl J Med 342 (2000), 1560-1567.
21. H. Mori, T Kondo, M. Yokochi, H. Matsumine, Y. Nakagawa-Hattori, T. Miyake, K. Suda and Y. Mizuno, Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q, Neurology 51 (1998), 890-892.
22. M. Nishimura, Y. Namba, K. Ikeda and M. Oda, Glial fibrillary tangles with straight tubules in the brains of patients with progressive supranuclear palsy, Neurosci Lett 143 (1999), 35-38.
23. M. Novak, R. Jakes, P.C. Edwards, C. Milstein and C.M. Wischik, Difference between the tau protein of Alzheimer paired helical filament core and normal tau revealed by epitope analysis of monoclonal antibodies 423 and 7.51, Proc Natl AcadSci USA 88 (1991), 5837-5841.
24. L. Otvos, L. Feiner, E. Lang, G.I. Szendrei, M. Goedert and V.M. Lee, Monoclonal antibody PHF-1 recognizes tau protein phosphorylated at serine residues 396 and 404, J Neurosci Res 39 (1994), 669-673.
25. S.C. Papasozomenos and L.I. Binder, Phosphorylation determines two distinct species of Tau in the central nervous system, Cell Motil Cytoskeleton 8 (1987), 210-226.
26. P. Pastor, E. Pastor, C. Carnero, R. Vela, T. Garcia, G. Amer, E. Tolosa and R. Oliva, Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene, Ann Neurol 49 (2001), 263-267.
27. P. Poorkaj, T.D. Bird, E. Wijsman, E. Nemens, R.M. Garruto, L. Anderson, A. Andreadis, W.C. Wiederholt, M. Raskind and G.D. Schellenberg, Tau is a candidate gene for chromosome 17 frontotemporal dementia [published erratum appears in Ann Neurol 1998 Sep;44(3):428], Ann Neurol 43 (1998), 815-825.
28. H. Shimura, N. Hattori, S. Kubo, Y. Mizuno, S. Asakawa, S. Minoshima, N. Shimizu, K. lwai, T. Chiba, K. Tanaka and T. Suzuki, Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase, Nat Genet 25 (2000), 302-305.
29. M.G. Spillantini, M.L. Schmidt, V.M. Lee, J.Q. Trojanowski, R. Jakes and M. Goedert, Alpha-synuclein in Lewy bodies [letter], Nature 388 (1997, 839-840.
30. M.G. Spillantini, J.R. Murrell, M. Goedert, M.R. Farlow, A. Klug and B. Ghetti, Mutation in the tau gene in familial multiple system tauopathy with presenile dementia, Proc Natl Acad Sci USA 95 (1998), 7737-7741.
31. P.M. Stanford, G.M. Halliday, W.S. Brooks, J.B. Kwok, C.E. Storey, H. Creasey, J.G. Morris, M.J. Fulham and P.R. Schofield, 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 (2000), 880-893.
32. B.P. van DeWarrenburg, M. Lan-imens, C.B. Lucking, P. Denefle, P. Wesseling, P.J. Booij, Praamstra, N. Quinn, A. Brice and M.W. Horstink, Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations, Neurology 56 (2001), 555-557.
33. T. Yamada, P.L. McGeer and E.G. McGeer, Appearance of paired nucleated, Tau-positive glia in patients with progressive supranuclear palsy brain tissue, Neurosci Lett 135 (1992), 99-102.
34. T. Yamada, D.B. Calne, H. Akiyama, E.G. McGeer and P.L. McGeer, Further observations on Tau-positive glia in the brains with progressive supranuclear palsy, Acta Neuropathol 85 (1993), 308-315.