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De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

Nature Genetics volume 5, pages 168–173 (1993)Cite this article

Abstract

Huntington's disease (HD) chromosomes contain an expanded unstable (CAG)n repeat in chromosome 4p16.3. We have examined nine families with potential de novo expression of the disease. With one exception, all of the affected individuals had 42 or more repeat units, well above the normal range. In four families, elderly unaffected relatives inherited the same chromosome as that containing the expanded repeat in the proband, but had repeat lengths of 34–38 units, spanning the gap between the normal and HD distributions. Thus, mutation to HD is usually associated with an expansion from an already large repeat.

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Authors and Affiliations

  1. Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, 02118, USA

    R. H. Myers

  2. Department of Neurology and Department of Genetics, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts, 02114, USA

    R. H. Myers, W. J. Koroshetz & E. D. Bird

  3. Department of Molecular Neurogenetics Unit, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts, 02114, USA

    M. E. MacDonald, M. P. Duyao, C. M. Ambrose, S. A. M. Taylor, G. Barnes, J. Srinidhi, C. S. Lin, W. L. Whaley & J. F. Gusella

  4. Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick, New Jersey, 08903, USA

    A. M. Lazzarini

  5. Neurologische Klinik, Rheinisch-Westfalische Technische Hochschule Aachen, Germany

    M. Schwarz

  6. Institut fur Humangenetik und Anthropologie, Albert-Ludwigs-Universitat, Freiburg, Germany

    G. Wolff

  7. Brain Tissue Resource Center, Ralph Lowell Laboratory, Mailman Research Center, McLean Hospital, Belmont, Massachusetts, 02172, USA

    E. D. Bird & J.-P. G. Vonsattel

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  1. R. H. Myers
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  6. S. A. M. Taylor
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  7. G. Barnes
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  9. C. S. Lin
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  11. A. M. Lazzarini
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  12. M. Schwarz
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  13. G. Wolff
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  15. J.-P. G. Vonsattel
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  16. J. F. Gusella
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Myers, R., MacDonald, M., Koroshetz, W. et al. De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet 5, 168–173 (1993). https://doi.org/10.1038/ng1093-168

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