Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)

Human Molecular Genetics

Volumn 7, Issue 2, 1998, Pages 165-170

  David, Gilles ^a   Dürr, Alexandra ^a   Stevanin, Giovanni ^a   Cancel, Géraldine ^a   Abbas, Nacer ^a   Benomar, Ali ^b   Belal, Samir ^c   Lebre, Anne Sophie ^a   Abada Bendib, Myriem ^d   Grid, Djamel ^e,f   Holmberg, Monica ^a   Yahyaoui, Mohamed ^b   Hentati, Fayçal ^c   Chkili, Taïeb ^b   Agid, Yves ^a   Brice, Alexis ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b IBN SINA HOSPITAL   (Morocco)

^c Institut National de Neurologie Tunisia   (Tunisia)

^d Centre Hospitalier et Universitaire de Beni Messous Algiers   (Algeria)

^e CHU Mustapha   (Algeria)

^f GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRINUCLEOTIDE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BABINSKI REFLEX; CEREBELLAR ATAXIA; DISEASE COURSE; DISEASE SEVERITY; DYSPHAGIA; GENE; GENE MUTATION; GENETIC STABILITY; HUMAN; HUMAN CELL; INHERITANCE; MAJOR CLINICAL STUDY; MOSAICISM; ONSET AGE; OPHTHALMOPLEGIA; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SPERM; SPHINCTER; TRINUCLEOTIDE REPEAT; VISUAL IMPAIRMENT;

ATAXIA;

EID: 6844254538     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.2.165     Document Type: Article

References (35)

1. Harding, A.E. (1982) The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'. Brain, 105, 1-28.
2. Harding, A.E. (1993) Clinical features and classification of inherited ataxias. Adv. Neurol., 61, 1-14.
3. Hammans, S.R. (1996) The inherited ataxias and the new genetics. J. Neurol. Neurosurg. Psychiatry, 61, 327-332.
4. 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. and Zoghbi, H.Y. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 4, 221-226.
5. Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J., Weber, C., Mandel, J., 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.
6. Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., Koide, R., Saito, M., Sato, A., Tanaka, T., Hanyu, S., Takiyama, Y., Nishizawa, M., Shimizu, N., Nomura, Y., Sagawa, 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.
7. 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.
8. Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, I., Katayama, S., Kawakami, H., Nakamura, S., Nishimura, M., Akiguchi, I., Kimura, J., Narumiya, S. and Kakizuka, A. (1994) CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet., 8, 221-227.
9. 1A-voltage-dependent calcium channel. Nature Genet., 15, 62-69.
10. Martin, J.J., Van Regemorter, N, Krols, L., Brucher, J.M., de Barsy, 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. (Berl.), 88, 277-286.
11. Enevoldson, T.P., Sanders, M.D. and Harding, A.E. (1994) Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain, 117, 445-460.
12. Benomar, A., Le Guern, E., Dürr, A., Ouhabi, H., Stevanin, G., Yahyaoui, M., Chkili, T., Agid, Y. and Brice, A. (1994) Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I, Ann. Neurol., 35, 439-444.
13. Benomar, A., Krols, L., Stevanin, G., Cancel, G., Le Guern, E., David, G., Ouhabi, H., Martin, J.J., Dürr, A., Zaim, A., Ravise, N., Busque, C., Penet, C., Van Regemorter, N., Weissenbach, J., Yahyaoui, M., Chkili, T., Agid, Y., Van Broeckhoven, C. and Brice, A. (1995) The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nature Genet., 10, 84-88.
14. Gouw, L.G., Kaplan, C.D., Haines, J.H., Digre, K.B., Rutledge, S.L., Matilla, A., Leppert, M., Zoghbi, H.Y. and Ptacek, L.J. (1995) Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nature Genet., 10, 89-93.
15. Holmberg, M., Johansson, J., Forsgren, L., Heijbel, J., Sandgren, O. and Holmgren, G. (1995) Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum. Mol. Genet., 4, 1441-1445.
16. David, G., Giunti, P., Abbas, N., Coullin, P., Stevanin, G., Horta, W., Gemmill, R., Weissenbach, J., Wood, N., Cunha, S., Drabkin, H., Harding, A.E., Agid, Y. and Brice, A. (1996) The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. Am. J Hum. Genet., 59, 1328-1336.
17. Krols, L., Martin, J.J., David, G., Van Regemorter, N., Benomar, A., Lofgren, A., Stevanin, G., Dürr, A., Brice, A. and Van Broeckhoven, C. (1997) Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1. Hum. Genet., 99, 225-232.
18. Jöbsis, G.J., Weber, J.W., Barth, P.G., Keizers, H., Baas, F., van Schooneveld, M.J., van Hilten, J.J., Troost, D., Geesink, H.H. and Bolhuis, P.A. (1997) Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1. J. Neurol. Neurosurg. Psychiatry, 62, 367-371.
19. David, G., Abbas, N., Stevanin, G., Durr, 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. and Brice, A. (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet., 17, 65-70.
20. Mandel, J. (1997) Breaking the rule of three. Nature, 386, 767-769.
21. Cancel, G., Dürr, A., Didierjean, O., Imbert, G., Bürk, K., Lezin, A., Belal, S., Benomar, A., Abada-Bendib, M., Vial, C., Guimaraes, J., Chneiweiss, H., Stevanin, G., Yvert, G., Abbas, N., Saudou, F., Lebre, A., Yahyaoui, M., Hentati, F., Vernant, J., Klockgether, T., Mandel, J., Agid, Y. and Brice, A. (1997) Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum. Mol. Genet., 6. 709-715.
22. Dürr, A. and Brice, A. (1996) Genetics of movement disorders. Curr. Opin. Neurol., 9, 290-297.
23. Pecheux, C., Mouret, J.F., Dürr, A., Agid, Y., Feingold, J., Brice, A., Dode, C. and Kaplan, J.C. (1995) Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes. J. Med. Genet., 32, 399-400.
24. Rubinsztein, D.C., Leggo, J., Coles, R., Almqvist, E., Biancalana, V. Cassiman, J.J., Chotai, K., Connarty, M., Crauford, D., Curtis, A., Curtis, D., Davidson, M.J., Differ, A.M., Dode, C., Dodge, A., Frontali, M., Ranen, N.G., Stine, O.C., Sherr, M., Abbott, M.H., Franz, M.L., Graham, C.A., Harper, P.S., Hedreen, J.C., Hayden, M.R. et al. (1996) Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am. J. Hum. Genet., 59, 16-22.
25. Andrew, S.E., Goldberg, Y.P., Kremer, B., Telenius, H., Theilmann, J., Adam, S., Starr, E., Squitieri, F., Lin, B., Kalchman, M.A. et al. (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet., 4, 398-403.
26. Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., Gray, J., Conneally, P., Young, A., Penney, J., Hollingsworth, Z., Shoulson, I., Lazzarini, A., Falek, A., Koroshetz, W., Sax, D., Bird, E., Vonsattel, J., Bonilla, E., Alvir, J., Bickham Conde, J., Cha, J.H., Dure, L., Gomez, F., Ramos, M., Sanchez-Ramos, J., Snodgrass, S., de Young, M., Wexler, N., Moskowitz, C., Penchaszadeh, G., MacFarlane, H., Anderson, M., Jenkins, B., Srinidhi, J., Barnes, G., Gusella, J. and MacDonald, M. (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet., 4, 387-392.
27. The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell, 72, 971-983.
28. Snell, R.G., MacMillan, J.C., Cheadle, J.P., Fenton, I., Lazarou, L.P., Davies, P., MacDonald, M.E., Gusella, J.F., Harper, P.S. and Shaw, D.J. (1993) Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet., 4, 393-397.
29. Gouw, L.G., Digre, K.B., Harris, C.P., Haines, J.H. and Ptacek, L.J. (1994) Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology, 44, 1441-1447.
30. Cancel, G., Abbas, N., Stevanin, G., Dürr, A., Chneiweiss, H., Neri, C., Duyckaerts, C., Penet, C., Cann, H.M., Agid, Y. and Brice, A. (1995) Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am. J. Hum. Genet., 57, 809-816.
31. Dürr, A., Stevanin, G., Cancel, G., Duyckaerts, C., Abbas, N., Didierjean, O., Chneiweiss, H., Benomar, A., Lyon-Caen, O., Julien, J., Serdaru, M., Penet, C., Agid, Y. and Brice, A. (1996) Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features. Ann. Neurol., 39, 490-499.
32. Ikeuchi, T., Onodera, O., Oyake, M., Koide, R., Tanaka, H. and Tsuji, S. (1995) Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. Semin. Cell Biol., 6, 37-44.
33. Komure, O., Sano, A., Nishino, N., Yamauchi, N., Ueno, S., Kondoh, K., Sano, N., Takahashi, M., Murayama, N., Kondo, I., Nagafuchi, S., Yamada, M. and Kanazawa, I. (1995) DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology, 45, 143-149.
34. Leeflang, E.P., Zhang, L., Tavare, S., Hubert, R., Srinidhi, J., MacDonald, M.E., Myers, R.H., de Young, M., Wexler, N.S., Gusella, J.F. and Arnheim, N. (1995) Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum. Mol. Genet.,4, 1519-1526.
35. n repeats in parent-offspring pairs with Huntington disease. Am. J. Hum. Genet., 57, 593-602.