Clinical/Scientific Note with Video

Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease†

  1. Michiko K. Bruno MD1,2,3,*,
  2. Bernard Ravina MD1,
  3. Gaetan Garraux MD, PhD2,
  4. Mark Hallett MD2,
  5. Louis Ptacek MD3,
  6. Amanda Singleton BS1,
  7. Janel Johnson BA4,
  8. Andrew Singleton PhD4,
  9. Melissa Hanson MS4,
  10. Elaine Considine BSN2,
  11. Katrina Gwinn-Hardy MD1

Article first published online: 10 OCT 2003

DOI: 10.1002/mds.10626

Issue

Movement Disorders

Movement Disorders

Volume 19, Issue 2, pages 228–230, February 2004

Additional Information

How to Cite

Bruno, M. K., Ravina, B., Garraux, G., Hallett, M., Ptacek, L., Singleton, A., Johnson, J., Singleton, A., Hanson, M., Considine, E. and Gwinn-Hardy, K. (2004), Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Movement Disorders, 19: 228–230. doi: 10.1002/mds.10626

Author Information

  1. 1

    Parkinson's Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA

  2. 2

    Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA

  3. 3

    Howard Hughes Medical Institute, Department of Neurology, University of California San Francisco, San Francisco California, USA

  4. 4

    Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda Maryland, USA

*Building 10, Room 5N226, 9000 Rockville Pike10 Center Drive MSC 1428, Bethesda, MD 20892-1428

  1. †

    A videotape accompanies this article.

Publication History

  1. Issue published online: 10 FEB 2004
  2. Article first published online: 10 OCT 2003
  3. Manuscript Accepted: 7 AUG 2003
  4. Manuscript Revised: 11 JUL 2003
  5. Manuscript Received: 10 FEB 2003

Funded by

  • National Institutes of Health. Grant Number: 43533

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Keywords:

  • Parkinson's disease;
  • familial;
  • exercise-induced dystonia;
  • parkin

Abstract

Paroxysmal exercise-induced dystonia can occur with Parkinson's disease (PD), and in rare cases, this can also be the presenting symptom. We report on 2 second cousins (no known consanguinity) who presented with paroxysmal exercise-induced dystonia who later developed clinical features of PD. Although autosomal recessive inheritance was suggested, and the dystonic features further suggest parkin as a possible cause, ssequencing for parkin mutations was negative and this family may represent a genetic variant of PD. Further genotype–phenotype studies in this and similar families may give clues to pre-symptomatic symptoms in PD and may reflect a particular phenotype of interest for genetics studies in the future. © 2003 Movement Disorder Society

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