Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in german SCA patients

Human Molecular Genetics

Volumn 4, Issue 6, 1995, Pages 1001-1005

  Schöls, Ludger ^a   Vieira saecker, Ana Maria Menezes ^a,b   Schöls, Stephan ^a   Przuntek, Horst ^a   Epplen, Jörg T ^a,b   Riess, Olaf ^a,b  

^a ST JOSEF HOSPITAL   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

TRINUCLEOTIDE;

ADULT; ARTICLE; CEREBELLAR ATAXIA; CLINICAL FEATURE; FAMILY STUDY; GENE; GENE MUTATION; HUMAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; SPINOCEREBELLAR TRACT;

AGE OF ONSET; BASE SEQUENCE; GERMANY; HUMAN; MACHADO-JOSEPH DISEASE; MOLECULAR SEQUENCE DATA; PROTEINS; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0028988941     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.6.1001     Document Type: Article

References (32)

1. Orr, H.T., Chung, M-y., Banfi, S., Kwiatkowski, T.J., 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 repeat in spinocerebellar ataxia type 1. Nature Genet., 4, 221-226.
2. Banfi, S., Chung, M-y., Kwiatkowski, T.J., Ranum, L.P.W., McCall, A.E., Chinault, A.C., Orr, H.T. and Zoghbi, H.Y. (1993) Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene in a yeast artificial chromosome contig spanning 1.2 Mb. Genomics, 18, 627-635.
3. Silveira, I., Manaia, A., Melki, J., Magarino, C., Lunkes, A., Hernandez, A., Gispert, S., Burlet, P., Rozet, J-M., Coutinho, P., Leal Loureiro, J.E., Guimaraes, J., Auburger, G., Munnich, A. and Sequiros, J. (1993) Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2). Genomics, 17, 556-559.
4. Gardner, K., Alderson, K., Galster, B., Kaplan, C., Leppert, M. and Ptacek, L. (1994) Autosomal dominant spinocerebellar ataxia: Clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. Neurology, 44, A361.
5. Ranum, L.P.W., Schul, L.J., Lundgren, J.K., Orr, H.T. and Livingston, D.M. (1994) Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet., 8, 280-284.
6. Stevanin, G., Le Guern, E., Ravise, N., Chneiweiss, H., Durr, A., Cancel, G., Vignal, A., Boch, A-L., Ruberg, M., Penet, C., Pothin, Y., Lagroua, L., Haguenau, M., Rancurel, G., Weissenbach, J., Agid, Y. and Brice, A. (1994) A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome I4q24.3-qter: Evidence for the existence of a fourth locus. Am. J. Hum. Genet., 54, 11-20.
7. St George-Hyslop, P., Rogaeva, E., Huterer, J., Tsuda, T., Santos, J., Haines, J.L., Schlumpf, K., Rogaev, E.L, Liang, Y., Crapper McLachlan, D.R., Kennedy, j., Weissenbach, J., Billingsley, G.D., Cox, D.W., Lang, A.E. and Wherret, J.R. (1994) Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. Am. J. Hum. Genet., 55, 120-125.
8. Takiyama, Y., Nishizawa, M., Tanaka, H., Kawashima, S., Sakamoto, H., Karube, Y., Shimazaki, H., Soutome, M., Endo, K., Ohta, S., Kagawa, Y., Kanazawa, I., Mizuno, Y., Yoshida, M., Yuasa, T., Horikawa, Y., Oyanagi, K., Nagai, H., Kondo, T., Inuzuka, T., Onodera, O. and Tsuji, S. (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet., 4, 300-304.
9. Nakano, K.K., Dawson, D.M. and Spence, A. (1972) Machado disease: a hereditary ataxia in Portuguese immigrants to Massachusetts. Neurology, 22, 49-55.
10. Woods, B.I. and Schaumburg, H.H. (1972) Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinicopathological entity. J. Neurol. Sci., 17, 149-166.
11. Rosenberg, R.N., Nyhan, W.L. and Bay, C. (1976) Autosomal dominant striatonigral degeneration: a clinical, pathologic, and biochemical study of a new genetic disorder. Neurology, 26, 703-714.
12. Rosenberg, R.N. (1992) Machado-Joseph disease: An autosomal dominant motor system degeneration. Movement Disorders, 7, 193-203.
13. Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Kalayama, 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 14q32.1. Nature Genet., 8, 221-228.
14. Stevanin, G., Cancel, G., Durr, A., Chneiweiss, H., Dubourg, O., Weissenbach, J., Cann, H.M., Agid, Y. and Brice, A. (1995) The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of-3 cM on chromosome 14q24.3-q32.2. Am. J. Hum. Genet., 56, 193-201.
15. Sasaki, H., Wakisaka, A., Takada, A., Yoshiki, T., Ihara, T., Suzuki, Y., Hamada, T., Iwabuchi, K., Onari, K., Tada, J., Suzuki, T. and Tashiro, K. (1995) Mapping of the gene for Machado-Joseph disease within a 3.6cM interval flanked by D14S29I/D14S280 and DI4S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families. Am. J. Hum. Genet., 56, 231-242.
16. Banfi, S., Servadio, A., Chung, M-y., Kwiatkowski Jr., T.J., McCall, A.E., Duvick, L.A., Shen, Y., Roth, E.J., Orr, H.T. and Zoghbi, H.Y. (1994) Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature Genet., 7, 513-520.
17. The Huntington’s Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeal that is expanded and unstable on Huntington’s disease chromosomes. Cell, 72, 971-983.
18. 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.
19. Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, 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.
20. Andrew, S.E., Goldberg, Y.P., Kremer, B., Telenius, H., Theilmann, J., Adam, S., Starr, E., Squitieri, F., Lin, B., Kalchman, M.A., Graham, R.K. and Hayden, M.R. (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington’s disease. Nature Genet., 4, 398-403.
21. Duyao, M., Ambrose, C., Myers, R., Noveletto, 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., Moscowitz, 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.
22. 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.
23. Norremolle, A., Riess, O., Epplen, J.T., Fenger, K., Hasholt, L. and Sorenson, S.A. (1993) Trinucleotide repeat elongation in the Huntington gene in Huntington disease patients from 71 Danish families. Hum. Mol. Genet., 2, 1475-1476.
24. Ztlhlke, C., Riess, O., Schroder, K., Siedlaczck, I., Epplen, J.T., Engel, W. and Thies, U. (1993) Expansion of the (CAG) repeat causing Huntington disease in 352 patients of German origin. Hum. Mol. Genet., 2, 1467-1469.
25. Jodice, C., Malaspina, P., Persichetti, F., Noveletto, A., Spadaro, M., Giunti, P., Morocutti, C., Terrenato, L., Harding, A.E. and Frontali, M. (1994) Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1. Am. J. Hum. Genet., 54, 959-965.
26. Sudarsky, L., Corwin, L. and Dawson, D.M. (1992) Machado-Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies. Movement Disorders. 7, 204-208.
27. Burke, J.R., Wingfield, M.S., Lewis, K.E., Roses, A.D., Lee, J.E., Hulette, C., Pericak-Vance, M.A., and Vance, J.M. (1994) The Haw River syndrome: Dentaiorubropallidoluysian atrophy (DRPLA) in an African-American family. Nature Genet., 7, 521-524.
28. Kitamura, J., Kubuki, Y., Tsuruta, K., Kurihara, T. and Matsukura, S. (1989) A new family with Joseph disease in Japan. Homovanillic acid, magnetic resonance, and sleep apnea studies. Arch. Neurol., 46, 425-428.
29. Bharucha, N.E., Bharucha, E.P. and Bhabha, S.K. (1986) Machado-Joseph-Azorean disease in India. Arch. Neurol., 43, 142-144.
30. Suite, N.D.A., Sequeiros, J. and McKhann, G.M. (1986) Machado-Joseph disease in a Sicilian-American family. J. Neurogenet., 3, 177-182.
31. Burt, T., Blumbergs, P. and Currie, B. (1993) A dominant hereditary ataxia resembling Machado-Joseph disease in Arnhem Land, Australia. Neurology, 43, 1750-1752.
32. Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16, 1215.