Scott A Norris1, H A Jinnah2, Alberto J Espay3, Christine Klein4, Norbert Brüggemann4, Richard L Barbano5, Irene Andonia C Malaty6, Ramon L Rodriguez6, Marie Vidailhet7, Emmanuel Roze7, Stephen G Reich8, Brian D Berman9, Mark S LeDoux10, Sarah Pirio Richardson11, Pinky Agarwal12, Zoltan Mari13, William G Ondo14, Ludy C Shih15, Susan H Fox16, Alfredo Berardelli17, Claudia M Testa18, Florence Ching-Fen Cheng19, Daniel Truong20, Fatta B Nahab21, Tao Xie22, Mark Hallett23, Ami R Rosen24, Laura J Wright1, Joel S Perlmutter1,25. 1. Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA. 2. Departments of Neurology and Human Genetics, Emory University, Atlanta, Georgia, USA. 3. James J. and Joan A. Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, Ohio, USA. 4. Institute of Neurogenetics and Department of Neurology, University of Luebeck, Luebeck, Germany. 5. Department of Neurology, University of Rochester, Rochester, New York, USA. 6. Department of Neurology, University of Florida, Gainesville, Florida, USA. 7. Hôpital Universitaire Pitié-Salpêtrière, Sorbonne Universités, Paris, France. 8. Department of Neurology, University of Maryland, Baltimore, Maryland, USA. 9. Department of Neurology, University of Colorado Denver School of Medicine, Aurora, Colorado, USA. 10. Departments of Neurology and Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee, USA. 11. Department of Neurology, University of New Mexico, Albuquerque, New Mexico, USA. 12. Booth Gardner Parkinson's Care Center, Kirkland, Washington, USA. 13. Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA. 14. Department of Neurology, Houston Methodist, Houston Texas, USA. 15. Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA. 16. Division of Neurology, Department of Medicine, University of Toronto, University Health Network, Toronto, Ontario, Canada. 17. Department of Neurology and Psychiatry, Sapienza University of Rome and IRCCS Neuromed, Italy. 18. Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA. 19. Neurology Department, West-mead Hospital, Westmead, Australia. 20. The Parkinson and Movement Disorder Institute, Fountain Valley, California, USA. 21. Department of Neurosciences, University of California, San Diego, California, USA. 22. Department of Neurology, University of Chicago Medical Center, Chicago, Illinois, USA. 23. Human Motor Control Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. 24. Department of Neurology, Emory University, Atlanta, Georgia, USA. 25. Departments of Psychiatry, Radiology, Neurobiology, Physical Therapy, and Occupational Therapy, Washington University School of Medicine, St. Louis, Missouri, USA.
Abstract
BACKGROUND: Clinical characteristics of isolated idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. The objectives of this study were to characterize the clinical characteristics and demographics of isolated idiopathic cervical dystonia in the largest standardized multicenter cohort. METHODS: The Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe, and Australia, recruited 1477 participants with focal (60.7%) or segmental (39.3%) cervical dystonia on examination. Clinical and demographic characteristics were evaluated in terms of the body region of dystonia onset and spread. RESULTS: Site of dystonia onset was: (1) focal neck only (78.5%), (2) focal onset elsewhere with later segmental spread to neck (13.3%), and (3) segmental onset with initial neck involvement (8.2%). Frequency of spread from focal cervical to segmental dystonia (22.8%) was consistent with prior reports, but frequency of segmental onset with initial neck involvement was substantially higher than the 3% previously reported. Cervical dystonia with focal neck onset, more than other subtypes, was associated with spread and tremor of any type. Sensory tricks were less frequent in cervical dystonia with segmental components, and segmental cervical onset occurred at an older age. CONCLUSIONS: Subgroups had modest but significant differences in the clinical characteristics that may represent different clinical entities or pathophysiologic subtypes. These findings are critical for design and implementation of studies to describe, treat, or modify disease progression in idiopathic isolated cervical dystonia.
BACKGROUND: Clinical characteristics of isolated idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. The objectives of this study were to characterize the clinical characteristics and demographics of isolated idiopathic cervical dystonia in the largest standardized multicenter cohort. METHODS: The Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe, and Australia, recruited 1477 participants with focal (60.7%) or segmental (39.3%) cervical dystonia on examination. Clinical and demographic characteristics were evaluated in terms of the body region of dystonia onset and spread. RESULTS: Site of dystonia onset was: (1) focal neck only (78.5%), (2) focal onset elsewhere with later segmental spread to neck (13.3%), and (3) segmental onset with initial neck involvement (8.2%). Frequency of spread from focal cervical to segmental dystonia (22.8%) was consistent with prior reports, but frequency of segmental onset with initial neck involvement was substantially higher than the 3% previously reported. Cervical dystonia with focal neck onset, more than other subtypes, was associated with spread and tremor of any type. Sensory tricks were less frequent in cervical dystonia with segmental components, and segmental cervical onset occurred at an older age. CONCLUSIONS: Subgroups had modest but significant differences in the clinical characteristics that may represent different clinical entities or pathophysiologic subtypes. These findings are critical for design and implementation of studies to describe, treat, or modify disease progression in idiopathic isolated cervical dystonia.
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