Dystonia in a patient with ring chromosome 21

Authors

  • Craig E. Hou MD,

    1. Department of Neurology and Neurological Surgery, Washington University School of Medicine, St. Louis, Missouri, USA
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  • Bradley L. Schlaggar MD, PhD,

    1. Department of Neurology and Neurological Surgery, Washington University School of Medicine, St. Louis, Missouri, USA
    2. Huntington Disease Society of America Center of Excellence, Washington University School of Medicine, St. Louis, Missori, USA
    3. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Missouri, USA
    4. Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA
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  • Brad A. Racette MD

    Corresponding author
    1. Department of Neurology and Neurological Surgery, Washington University School of Medicine, St. Louis, Missouri, USA
    2. Huntington Disease Society of America Center of Excellence, Washington University School of Medicine, St. Louis, Missori, USA
    3. American Parkinson Disease Association Advanced Center for Parkinson Research, Washington University School of Medicine, St. Louis, Missouri, USA
    • Washington University School of Medicine, 660 South Euclid Ave., Box 8111, St. Louis, MO 63110
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    • Disclosure: Dr. Racette has served as a paid consultant for Allergan Pharmaceuticals in the last year.


  • A videotape accompanies this article.

Abstract

Dystonia associated with chromosomal abnormalities is typically attributed to chromosomal deletions. We describe a patient with ring chromosome 21, with karyotype 46XX,r(21)(p11.2q22.3); 46,XX,dic r(21)(p11.2q22.3); 45, XX, –21, who developed childhood onset cervical dystonia. © 2003 Movement Disorder Society

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