IDEAS home Printed from https://ideas.repec.org/a/plo/pone00/0015125.html
   My bibliography  Save this article

CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study

Author

Listed:
  • Kathrin Reetz
  • Alexandra Kleiman
  • Christine Klein
  • Rebekka Lencer
  • Christine Zuehlke
  • Kathrin Brockmann
  • Arndt Rolfs
  • Ferdinand Binkofski

Abstract

Background: Abnormal repeat length has been associated with an earlier age of onset and more severe disease progression in the rare neurodegenerative disorder spinocerebellar ataxia 17 (SCA17). Methodology/Principal Findings: To determine whether specific structural brain degeneration and rate of disease progression in SCA17 might be associated with the CAG repeat size, observer-independent voxel-based morphometry was applied to high-resolution magnetic resonance images of 16 patients with SCA17 and 16 age-matched healthy controls. The main finding contrasting SCA17 patients with healthy controls demonstrated atrophy in the cerebellum bilaterally. Multiple regression analyses with available genetic data and also post-hoc correlations revealed an inverse relationship again with cerebellar atrophy. Moreover, we found an inverse relationship between the CAG repeat length and rate of disease progression. Conclusions: Our results highlight the fundamental role of the cerebellum in this neurodegenerative disease and support the genotype-phenotype relationship in SCA17 patients. Genetic factors may determine individual susceptibility to neurodegeneration and rate of disease progression.

Suggested Citation

  • Kathrin Reetz & Alexandra Kleiman & Christine Klein & Rebekka Lencer & Christine Zuehlke & Kathrin Brockmann & Arndt Rolfs & Ferdinand Binkofski, 2011. "CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study," PLOS ONE, Public Library of Science, vol. 6(1), pages 1-5, January.
    • Handle: RePEc:plo:pone00:0015125
    DOI: 10.1371/journal.pone.0015125
    as

    Download full text from publisher

    File URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0015125
    Download Restriction: no
    File URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0015125&type=printable
    Download Restriction: no
    File URL: https://libkey.io/10.1371/journal.pone.0015125?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:plo:pone00:0015125. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: plosone (email available below). General contact details of provider: https://journals.plos.org/plosone/ .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.