Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)

Nature Genetics

Volumn 6, Issue 1, 1994, Pages 9-13

  Koide, R ^a   Ikeuchi, T ^a   Onodera, O ^a   Tanaka, H ^a   Igarashi, S ^a   Endo, K ^a   Takahashi, H ^a   Kondo, R ^b   Ishikawa, A ^c   Hayashi, T ^c   Saito, M ^c   Tomoda, A ^d   Miike, T ^d   Naito, H ^e   Ikuta, F ^a   Tsuji, S ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b Shirone Kensei Hospital   (Japan)

^c Nishi Ojiya National Hospital   (Japan)

^d KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^e Department of Psychiatry Matsuhama Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN ATROPHY; CEREBELLAR ATAXIA; CHOREOATHETOSIS; CHROMOSOME 12; DEMENTIA; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DNA SEQUENCE; EPILEPSY; HUMAN; JAPAN; MYOCLONUS; NERVE DEGENERATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN; CEREBELLAR ATAXIA; CHILD; DEMENTIA; DNA, COMPLEMENTARY; EPILEPSIES, MYOCLONIC; FEMALE; HUMAN; MALE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; NERVOUS SYSTEM DISEASES; OLIGODEOXYRIBONUCLEOTIDES; PEDIGREE; REPETITIVE SEQUENCES, NUCLEIC ACID; SUPPORT, NON-U.S. GOV'T;

ATAXIA;

EID: 0028216760     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0194-9     Document Type: Article

References (39)

1. McKusick V. A., Francomano, C. A. & Antonarakis, S. E. Mendelian Inheritance of Man. 10th edn 305-306 (The Johns Hopkins University Press, Baltimore, 1992).
2. Naito, H. & Oyanagi, S. Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy. Neurol. 32, 798-807 (1982).
3. Takahashi, H. et al. Hereditary dentatorubral-pallidoluysian atrophy: Clinical and pathologic variants in a family. Neurol. 38, 1065-1070 (1988).
4. Smith, J. K., Gonda, V. E. & Malamud, N. Unusual form of cerebellar ataxia: Combined dentato-rubral and pallido-Luysian degeneration. Neurol. 8, 205-209 (1958).
5. Naito, H. Progressive myoclonus epilepsy and DRPLA (in Japanese). Shinkei Kenkyu no Shinpo 34, 56-67 (1990).
6. Kondo, I. et al. Exclusion mapping of the hereditary dentatorubro pallidoluysian atrophy gene from the Huntington’s disease locus. J. med. Genet. 27, 105-108 (1990).
7. Fu, Y.-H. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047-1058 (1991).
8. Knight, S. J. L. et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74, 127-134 (1993).
9. La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E. & Fishbeck, K. H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79 (1991).
10. Brook, J. D. 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 68, 799-808 (1992).
11. Buxton, J. et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355, 547-548 (1992).
12. Fu, Y.-H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1259 (1992).
13. Harley, H. G. et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355, 545-546 (1992).
14. Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 255, 1253-1255 (1992).
15. 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 72, 971-983 (1993).
16. Orr, H. T. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
17. Gispert, S. et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24. 1. Nature Genet. 4, 295-299 (1993).
18. Nechiporuk, S.-M. P. A. & Starkman, S. Anticipation in spinocerebellar ataxia type 2. Nature Genet. 5, 8-10 (1993).
19. Takiyama, Y. et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet. 4, 300-304 (1993).
20. Riggins, G. J. et al. Human genes containing polymorphic trinucleotide repeats. Nature Genet. 2, 186-191 (1992).
21. Li, S.-H. et al. Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 16, 572-579 (1993).
22. Tomoda, A., Ikezawa, M., Ohtani, Y., Miike, T. & Kumamoto, T. Progressive myoclonus epilepsy: Dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood. Brain Dev. 13, 266-269 (1991).
23. Naito, H., Izawa, K., Kurosaki, T., Kaji, S. & Sawa, M. Two families of progressive myoclonus epilepsy with Mendelian dominant heredity (in Japanese). Psychiatr. Neurol. Jpn 74, 871-897 (1972).
24. Naito, H. et al. A family of dentatorubro-pallidoluysian atrophy (DRPLA) including two cases with schizophrenic symptoms (in Japanese). Psychiatr. Neurol. Jpn 89, 144-158 (1987).
25. Miyashita, K. et al. Hereditary dentatorubro-pallidoluysian atrophy.-Clinical variants in a family and degeneration of cerebral white matter in a proband-(in Japanese). Brain Nerve 44, 279-284 (1992).
26. Morioka, E. et al. An autopsy case of dentatorubro-pallidoluysian atrophy showing marked atrophy of the brain stem (in Japanese). Brain Nerve 39, 769-773 (1987).
27. Nakano, T. et al. An autopsy case of dentatorubro-pallidoluysian atrophy (DRPLA) clinically diagnosed as Huntington’s chorea (In Japanese). Brain Nerve 37, 767-774 (1985).
28. Akashi, T., Ando, J., Inose, T., Uemura, H. & Mizushima, S. Dentato-rubro-pallido-luysian atrophy: A clinico-neuropathological study (in Japanese). Rinsho Seishin Igaku 16, 1163-1172 (1987).
29. Iwabuchi, K. et al. A clinicopathological study on autosomal dominant hereditary dentatorubro-pallidoluysian atrophy (Naito-Oyanagi’s disease) (in Japanese). Shinkei Kenkyu no Shinpo 37, 678-691 (1993).
30. Iizuka, R. & Hirayama, K. Dentato-rubro-pallido-luysian atrophy. InHandoook of Clinical Neurology Vol 49 (eds Vinken, P. J., Bruyn, G. W. & Klawans, H. L.) 437-143 (Elsevier, Amsterdam, 1986).
31. Iizuka, R., Hirayama, K. & Maehara, K. Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study. J. neurol. neurosurg. Psychiat. 47, 1288-1298 (1984).
32. Smith, J. K. dentatorubro-pallidoluysian atrophy. In Handbook of Clinical Neurology, Vol 21 (eds Vinken, P. J. & Bruyn, G. W.) 519-534 (North-Holland, Amsterdam, 1975).
33. Duyao, M. et al. Trinucleotide repeat length instability and age of onset in Huntington’s disease. Nature Genet. 4, 387-392 (1993).
34. Snell, R. G. et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington’s disease. Nature Genet. 4, 393-397 (1993).
35. Andrew, S. E. et al. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington’s disease. Nature Genet. 4, 398-403 (1993).
36. Maniatis, T., Fritsch, E. F. & Sambrook, J. Molecular Coning: A Laboratory Manual. 2nd edn (Cold Spring Harbor Laboratory Press, New York, 1989).
37. Marchuk, D., Drumm, M., Saulino, A. & Collins, F. S. Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nuci. Acids Res. 19, 1154 (1991).
38. Sanger, F., Nicklen, S. & Coulson, A. R. DNA sequencing with chain-terminating inhibitors. Proc. natn. Acad. Sci. U. S. A. 74, 5463-5467 (1977).
39. Chen, E. Y. & Seeburg, P. M. Supercoil sequencing: A first and simple method for sequencing plasmid DNA. DNA 4, 165-170 (1985).