Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17

Proceedings of the National Academy of Sciences of the United States of America

Volumn 95, Issue 22, 1998, Pages 13103-13107

  Clark, Lorraine N ^a   Poorkaj, Parvoneh ^b,c   Wszolek, Zbigniew ^d   Geschwind, Daniel H ^e   Nasreddine, Ziad S ^f   Miller, Bruce ^e   Li, Diane ^e   Payami, Haydeh ^g   Awert, Fre ^h   Markopoulou, Katerina ^d   Andreadis, Athena ⁱ   D'Souza, Ian ^b,c   Lee, Virginia M Y ^j   Reed, Lee ^j   Trojanowski, John Q ^j   Zhukareva, Victoria ^j   Bird, Thomas ^b,c   Schellenberg, Gerard ^b,c,k   Wilhelmsen, Kirk C ^a,l  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f HÔPITAL CHARLES LEMOYNE   (Canada)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^h UNIVERSITY OF AMSTERDAM   (Netherlands)

ⁱ UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

^k UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^l UNIVERSITY OF CALIFORNIA SAN FRANCISCO   (United States)

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Author keywords

Alzheimer's disease; Frontotemporal dementia and Parkinsonism; Glial and neuronal tangles; Microtubule associated proteins; Tauopathies

Indexed keywords

MICROTUBULE ASSOCIATED PROTEIN; TAU PROTEIN;

ADULT; ARTICLE; CHROMOSOME 17Q; CLINICAL FEATURE; EXON; FAMILIAL DISEASE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GLIA CELL; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NERVE DEGENERATION; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AGED; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; DEMENTIA; GLOBUS PALLIDUS; HUMANS; INTRONS; LINKAGE (GENETICS); MIDDLE AGED; MOLECULAR SEQUENCE DATA; NEURODEGENERATIVE DISEASES; PARKINSON DISEASE; POINT MUTATION; PONS; REPETITIVE SEQUENCES, AMINO ACID; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SUBSTANTIA NIGRA; TAU PROTEINS;

EID: 0032573083     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.95.22.13103     Document Type: Article

References (25)

1. Foster, N. L., Wilhelmsen, K. C., Sima, A. A. F., Jones, M. Z., D'Amato, C. & Gilman, S. (1997) Ann. Neurol. 41, 706-715.
2. Wilhelmsen, K. C., Lynch, T. & Nygaard, T. G. (1994) Am. J. Hum. Genet. 55, 1159-1165.
3. Wszolek, Z. K., Pfeiffer, R. F., Bhatt, M. H., Schelper, R. L., Cordes, M., Snow, B. J., Rodnitzky, R. L., Wolters, E. C., Arwert, F. & Calne, D. B. (1992) Ann. Neurol. 32, 312-320.
4. Reed, L. A., Schmidt, M. L., Wszolek, Z. K., Balin, B. J., Soontornniyomkij, V., Lee, V. M. Y. & Trojanowski, J. Q. (1998) J. Neuropathol. Exp. Neurol. 57, 588-601.
5. Froelich, S., Basun, H., Forsell, C., Lilius, L., Axelman, K., Andreadis, A. & Lannfelt, L. (1997) Am. J. Med. Genet. 74, 380-385.
6. Baker, M., Kwok, J. B., Kucera, S., Crook, R., Farrer, M., Houlden, H., Isaacs, A., Lincoln, S., Onstead, L., Hardy, J., et al. (1997) Ann. Neurol. 42, 794-798.
7. Poorkaj, P., Bird, T., Wijsman, E., Nemens, E., Garruto, R. M., Anderson, L., Andreadis, A., Wiederholt, W. C., Raskind, M. & Schellenberg, G. D. (1998) Ann. Neurol. 43, 815-825.
8. Goedert, M., Spillantini, M. G., Jakes, R., Rutherford, D. & Crowther, R. A. (1989) Neuron 3, 519-526.
9. Goedert, M., Spillantini, M. G., Cairns, N. J. & Crowther, R. A. (1992) Neuron 8, 159-168.
10. Wszolek, Z. K. & Pfeiffer, R. F. (1993) in Parkinsonian Syndromes, eds. Stern, M. & Koller, W. C. (Marcel Dekker, New York), pp. 297-312.
11. Denson, M. A. & Wszolek, Z. K. (1995) Parkinsonism and Related Disorders 1, 35-46.
12. Wszolek, Z. K., Lynch, T. & Wilhelmsen, K. C. (1997) Parkinsonism and Related Disorders 3, 67-76.
13. Bramblett, G. T., Goedert, M., Jakes, R., Merrick, S. E., Trojanowski, J. Q. & Lee, V. M. Y. (1993) Neuron 10, 1089-1099.
14. Goedert, M., Spillantini, M. G., Cairns, N. J. & Crowther, R. A. (1992) Neuron 8, 159-168.
15. Goedert, M., Spillantini, M. G., Jakes, R., Rutherford, D. & Crowther, R. A. (1989) Neuron 3, 519-526.
16. Conrad, C., Andreadis, A., Trojanowski, J. Q., Dickson, D. W., Kang, D., Chen, X., Wiederholt, W., Hansen, L., Masliah, E., Thal, L. J., et at. (1997) Ann. Neurol. 41, 277-281.
17. Higgin, J. J, Litvan, I., Pho, L. T., Li, W., and Nee, L. E. (1998) Neurology 50, 270-273.
18. Chambers, C. B., Lee, J. M. & Muma, N. A. (1998) J. Neuropathol. Exp. Neurol. 57, 474.
19. Spillantini, M. G., Crowther, R. A. & Goedert, M. (1996) Acta Neuropathol. 92, 42-48.
20. Goode, B. L. & Feinstein, S. C. (1994) J. Cell Biol. 124, 769-782.
21. Xu, R., Teng, J. & Cooper, T. A. (1993) Mol. Cell. Biol. 13, 3660-3674.
22. Watakabe, A., Tanaka, K. & Shimura, Y. (1993) Genes Dev. 7, 407-418.
23. Lavigueur, A., La Branche, H., Kornblihtt, A. R. & Chabot, B. (1993) Genes Dev. 7, 2405-2417.
24. Spillantini, M. G., Murrell, J. R., Goedert, M., Farlow, M. R., Klug, A. & Ghetti, B. (1998) Proc. Natl. Acad. Sci. USA 95, 7737-7741.
25. Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakrarerty, S., Isaacs, A., Grover, A., et al. (1998) Nature (London) 393, 702-705.