Machado-Joseph disease in four Chinese pedigrees: Molecular analysis of 15 patients including two juvenile cases and clinical correlations

Neurology

Volumn 48, Issue 2, 1997, Pages 482-485

  Zhou, Y X ^a   Takiyama, Y ^a   Igarashi, S ^a   Li, Y F ^a   Zhou, B Y ^a   Gui, D C ^a   Endo, K ^a   Tanaka, H ^a   Chen, Z H ^a   Zhou, L S ^a   Fan, M Z ^a   Yang, B X ^a   Weissenbach, J ^a   Wang, G X ^a   Tsuji, S ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTIDINE; DNA; GUANINE; TRINUCLEOTIDE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHINESE; CONTROLLED STUDY; DEGENERATIVE DISEASE; FEMALE; HUMAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0031035516     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.2.482     Document Type: Article

References (29)

1. Nakano KK, Dawson DM, Spence A. Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 1972;22:49-55.
2. Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinicopathological entity. J Neurol Sci 1972;17:149-166.
3. Rosenberg RN, Nyhan WL, Bay C, Shore P. Autosomal dominant striatonigral degeneration: a clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 1976;26: 703-714.
4. Barbeau A, Roy M, Cunha L, et al. The natural history of Machado-Joseph disease: an analysis of 138 personally examined cases. Can J Neurol Sci 1984;11:510-525.
5. Rosenberg RN. Machado-Joseph disease: an autosomal dominant system degeneration. Mov Disord 1992;3:193-203.
6. Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet 1993;4:300-304.
7. Hyslop PSG, Rogaeva E, Huterer J, et al. Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. Am J Hum Genet 1994;55:120-125.
8. Sequeiros J, Silveira I, Maciel P, et al. Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds. Genomics 1994;21:645-648.
9. Sasaki H, Wakisaka A, Takada A, et al. Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families. Am J Hum Genet 1995;56:231-242.
10. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994;8:221-228.
11. La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79.
12. Brook JD, McCurrach ME, Harley HG, et al. Molecular-basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
13. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-983.
14. Orr HT, Chung MY, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1993;4:221-226.
15. Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 1994;6:9-13.
16. Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 1994;6:14-18.
17. Fu YH, Kuhl DPA, Pizzuti A, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-1058.
18. Knight SJL, Flannery AV, Hirst MC, et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 1993;74:127-134.
19. Duyao M, Ambrose C, Myers R, et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet 1993;4:387-392.
20. Igarashi S, Tanno Y, Onodera O, et al. Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology 1992;42:2300-2302.
21. La spada AR, Roling DB, Harding AE, et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet 1992;2:301-304.
22. Takiyama Y, Igarashi S, Rogaeva EA, et al. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 1995;4:1137-1146.
23. Wang GX, Zhou BY, Li YF, et al. Studies on a large Huang's Chinese family with Joseph disease. J China-Japan Friendship Hospital 1990;4(suppl):269-279.
24. Maniatis T, Fritsch EF, Sambrook J. Molecular cloning: A laboratory manual, 2nd ed. New York: Cold Spring Harbor, 1989.
25. Maruyama H, Nakamura S, Matsuyama Z, et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 1995;4:807-812.
26. Maciel P, Gaspar C, DeStefano AL, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 1995;57:54-61.
27. Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol 1993;61:139-153.
28. Rosenberg RN, Nyhan WL, Coutinho P, Bay C. Joseph's disease: an autosomal dominant neurologic disease in the Portuguese of the United States and the Azorean Islands. Adv Neurol 1978;21:33-57.
29. Lang AE, Rogaeva EA, Tsuda T, et al. Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol 1994; 36:443-447.