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

Nature Genetics volume 6, pages 9–13 (1994)Cite this article

Abstract

Hereditary dentatorubral–pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified unstable expansion of a CAG in a gene on chromosome 12 in all the 22 DRPLA patients examined. A good correlation between the size of the CAG repeat expansion and the ages of disease onset is found in this group. Patients with earlier onset tended to have a phenotype of progressive myoclonus epilepsy and larger expansions. We propose that the wide variety of clinical manifestations of DRPLA can now be explained by the variable unstable expansion of the CAG repeat.

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Authors and Affiliations

  1. Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Niigata, 951, Japan

    R. Koide, T. Ikeuchi, O. Onodera, H. Tanaka, S. Igarashi, K. Endo & S. Tsuji

  2. Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Niigata, 951, Japan

    H. Takahashi & F. Ikuta

  3. Department of Neurology, Shirone-Kensei Hospital, 770-1 Jogesuwanoki, Shirone, 950-12, Japan

    R. Kondo

  4. Department of Neurology, National Sanatorium, Nishi-Ojiya Hospital, 2732-2 Kowada, Ojiya, 947, Japan

    A. Ishikawa, T. Hayashi & M. Saito

  5. Department of Child Development, Kumamoto University Medical School, 1-1-1 Honjo, Kumamoto, 860, Japan

    A. Tomoda & T. Miike

  6. Matsuhama Hospital, 3396 Matsuhama, Niigata, 950-31, Japan

    H. Naito

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Koide, R., Ikeuchi, T., Onodera, O. et al. Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA). Nat Genet 6, 9–13 (1994). https://doi.org/10.1038/ng0194-9

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