Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions

Human Molecular Genetics

Volumn 7, Issue 5, 1998, Pages 913-918

  Holmberg, Monica ^a   Duyckaerts, Charles ^a   Dürr, Alexandra ^a   Cancel, Géraldine ^a   Gourfinkel An, Isabelle ^a   Damier, Philippe ^a   Faucheux, Baptiste ^a   Trottier, Yvon ^b   Hirsch, Etienne C ^a   Agid, Yves ^a   Brice, Alexis ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

POLYGLUTAMIC ACID;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN REGION; CASE REPORT; CELL NUCLEUS; CEREBELLAR ATAXIA; CONFOCAL MICROSCOPY; CONTROLLED STUDY; CYTOPLASM; DEGENERATIVE DISEASE; HUMAN; HUMAN TISSUE; INFERIOR OLIVE; MALE; NUCLEOTIDE REPEAT; PRIORITY JOURNAL; SCHOOL CHILD; SPINOCEREBELLAR TRACT;

BRAIN; CELL NUCLEUS; CHILD; GLUTAMINE; HUMANS; IMMUNOHISTOCHEMISTRY; INCLUSION BODIES; MALE; NERVE TISSUE PROTEINS; NEURONS; NEUROPEPTIDES; NUCLEAR PROTEINS; SPINOCEREBELLAR DEGENERATIONS;

ATAXIA;

EID: 7144229376     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.5.913     Document Type: Article

References (27)

1. Berciano, J. (1982) Olivopontocerebellar atrophy: a review of 117 cases. J. Neurol. Sci., 53, 253-272.
2. Konigsmark, B.W. and Weiner, L.P. (1970) The olivopontocerebellar atrophies: a review. Medicine (Baltimore), 49, 227-241.
3. Martin, J.J., Van Regemorter, N., Krols, L., Brucher, J.-M., de Barcy, T., Szliwowski, H., Evrard, P., Ceuterick, C., Tassignon, M.-J., Smet-Dieleman, H., Hayez-Delatte, F., Willems, P.J. and Van Broeckhoven, C. (1994) On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family. Acta Neuropathol., 88, 277-286.
4. David, G., Abbas, N., Stevanin, G., Dürr, A., Yvert, G., Cancel, G., Weber, C., Imbert, G., Saudou, F., Antoniou, E., Drabkin, H., Gemmill, R., Giunti, P., Benomar, A., Wood, N., Ruberg, M., Agid, Y., Mandel, J.-L. and Brice, A. (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet., 17, 65-70.
5. David, G., Dürr, A., Stevanin, G., Cancel, G., Abbas, N., Benomar, A., Belal, S., Lebre, A.-S., Abada-Bendib, M., Grid, D., Holmberg, M., Yahyaoui, M., Hentati, F., Chkili, T., Agid, Y. and Brice, A. (1998) Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum. Mol. Genet., 7, 165-170.
6. Del-Favero, J., Krols, L., Michalik, A., Theuns, J., Lofgren, A., Goossens, D., Wehnert, A., Van den Bossche, D., Van Zand, K., Backhovens, H., van Regenmorter, N., Martin, J.-J. and Van Broeckhoven, C. (1998) Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum. Mol. Genet., 7, 177-186.
7. Johansson, J., Forsgren, L., Sandgren, O., Brice, A., Holmgren, G. and Holmberg, M. (1998) Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on clinical manifestation. Hum. Mol. Genet., 7, 171-176.
8. T.H.s.D.C.R. Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell, 72, 971-983.
9. Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Gamier, J.-M., Weber. C., Mandel, J.-L., Cancel, G., Abbas, N., Dürr, A., Didierjean. O., Stevanin, G., Agid, Y. and Brice, A. (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet., 14, 285-291.
10. Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, S., Kawakami, H., Nakamura, S., Nishimura. M., Akiguchi, I., Kimura, J., Narumiya, S. and Kakizuka, A. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome I4q32.1. Nature Genet., 8, 221-228.
11. Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi. T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F. and Tsuji, S. (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet., 6, 9-13.
12. LaSpada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fishbeck, K.H. (1991) Androgen receptor gene mutations in X-linked bulbar muscular atrophy. Nature. 352, 77-79.
13. Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadakoro, K., Kondo, I., Murayama, N., Tanaka, Y., Kikushima, H., Umino, K., Kurosawa, H., Furukawa, T., Nihei, K., Inoue, T., Sano, A., Komure, O., Takahashi, M., Yoshizawa, T., Kanazawa. I. and Yamada, M. (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet., 6, 14-18.
14. Orr, H.T., Chung,M.-Y., Banfi, S., Kwiatkowski, T.J. Jr, Servadio, A., Beaudet, A.L., McCall, A.E., Duvick, L.A., Ranum, L.P.W. and Zoghbi, H.Y. (1993) Expansion of an unstable trinucleotide CAG repeal in spinocerebellar ataxia type I. Nature Genet., 4, 221-226.
15. Pulst, S.-M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X.-N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., DeJong, P., Rouleau, G.A., Auburger, G., Korenberg, J.R., Figueroa, C. and Sahba, S. (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet., 14, 269-276.
16. Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., Koide, R., Saito, M., Saito, A., Tanaka, T., Hanyu, S., Takiyama, Y., Nishizawa, M., Shimizu, N., Nomura, Y., Segawa, M., Iwabuchi, K., Eguchi, I., Tanaka, H., Takahashi, H. and Tsuji, S. (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique. DIRECT. Nature Genet., 14, 277-284.
17. Zhuchenko, O., Bailey, J., Bonnen, P., Ashizawa, T., Stockton, D.W., Amos, C., Dobyns, W.B., Subramony, S.H., Zoghbi, H.Y. and Lee, C.C. (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A voltage-dependent calcium channel. Nature Genet., 15, 62-69.
18. Bates, G.P., Mangiarini, L., Mahal, A. and Davies, S.W. (1997) Transgenic models of Huntington's disease. Hum. Mol. Genet., 6, 1633-1637.
19. Willems, P.J. (1994) Dynamic mutations hit double figures. Nature Genet., 8, 213-215.
20. DiFiglia, M., Sapp, E., Chase, K.O., Davies, S.W., Bates, G.P., Vonsattel. J.P. and Aronin, N. (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neuntes in brain. Science, 277, 1990-1993.
21. Paulson, H.L., Ferez, M.K., Trottier, Y., Trojanowski, J.Q., Subramony, S.H., Das, S.S., Vig, P., Mandel, J.-L., Fischbeck, K.H. and Pittman, R.N. (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron, 19, 333-344.
22. Skinner, P.J., Koshy, B.T., Cummings, C.J., Klement, I.A., Helin, K., Servadio, A., Zoghbi, H.Y. and Orr, H.T. (1997) Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature, 389, 971-974.
23. Davies, S.W., Turmaine, M., Cozens, B.A., DiFiglia, M., Sharp, A.H., Ross, C.A., Scherzinger, E., Wanker, E.E., Mangiarini, L. and Bates, G.P. (1997) Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell. 90, 537-548.
24. Matilla, A., Koshy, B.T., Cummings, C.J., Isobe, T., Orr, H.T. and Zoghbi, H. Y. (1997) The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature, 389, 974-978.
25. Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G.,Tora, T., Agid. Y., Brice, A. and Mandel, J.-L. (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature, 378, 403-405.
26. Stevanin, G., Trottier, Y., Cancel, G., Dürr, A., David, G., Didierjean, O., Burk, K., Imbert, G., Saudou, F., Abada-Bendib, M., Gourfinkel-An, I., Benomar, A., Abbas, N., Klockgether, T., Grid, D., Agid, Y., Mandel, J.-L. and Brice, A. (1996) Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Hum. Mol. Genet., 5, 1887-1892.
27. Chen,T.-H., Brody, J.R., Romantsev, F.E., Yu, J.-G., Kayler, A.E., Voneiff. E., Kuhajda, F.P. and Pastemack, G.R. (1996) Structure of pp32, an acidic nuclear protein which inhibits oncogene-induced formation of transformed foci. Mol Biol Cell, 7, 2045-2056.