Meng Wang1, Tolulope Sajobi1, Francesca Morgante2,3, Charles Adler4, Pinky Agarwal5, Tobias Bäumer6, Alfredo Berardelli7,8, Brian D Berman9, Joel Blumin10, Max Borsche11, Allison Brashear12, Andres Deik13, Kevin Duque14, Alberto J Espay14, Gina Ferrazzano7, Jeanne Feuerstein15, Susan Fox16, Samuel Frank17, Mark Hallett18, Joseph Jankovic19, Mark S LeDoux20, Julie Leegwater-Kim21, Abhimanyu Mahajan22, Irene A Malaty23, William Ondo24,25, Alexander Pantelyat26, Sarah Pirio-Richardson27, Emmanuel Roze28, Rachel Saunders-Pullman29, Oksana Suchowersky30, Daniel Truong31,32, Marie Vidailhet28, Aparna Wagle Shukla23, Joel S Perlmutter33, Hyder A Jinnah34, Davide Martino35. 1. Department of Community Health Sciences, Department of Clinical Neurosciences and Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada. 2. Neurosciences Research Centre, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK. 3. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. 4. Department of Neurology, Mayo Clinic College of Medicine, Mayo Clinic Arizona, Scottsdale, Arizona, USA. 5. Booth Gardner Parkinson's Center, Evergreen Health, Kirkland, Washington, USA. 6. Institute of Systems Motor Science, Center for Rare Diseases, University Medical Hospital Schleswig-Holstein, University of Lübeck, Lübeck, Germany. 7. Department of Human Neurosciences, University of Rome "La Sapienza", Rome, Italy. 8. IRCCS Neuromed, Pozzilli, Italy. 9. Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA. 10. Department of Otolaryngology & Communication Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, USA. 11. Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. 12. Department of Neurology, University of California, Davis, Sacramento, California, USA. 13. Disease and Movement Disorders Center, Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA. 14. Department of Neurology and Rehabilitation Medicine, Gardner Family Center for Parkinson's Disease and Movement Disorders, University of Cincinnati, Cincinnati, Ohio, USA. 15. Department of Neurology, University of Colorado, Aurora, Colorado, USA. 16. Movement Disorder Clinic, Edmond J Safra Program in Parkinson Disease, Toronto Western Hospital, and Division of Neurology, University of Toronto, Toronto, Ontario, Canada. 17. Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA. 18. Human Motor Control Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA. 19. Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA. 20. Department of Psychology and School of Health Sciences, University of Memphis, and Veracity Neuroscience, Memphis, Tennessee, USA. 21. Lahey Hospital and Medical Center, Tufts University School of Medicine, Burlington, Massachusetts, USA. 22. Rush Parkinson's disease and movement disorders program, Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA. 23. Department of Neurology, Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA. 24. Houston Methodist Hospital, Houston, Texas, USA. 25. Weill Cornell Medical School, New York, New York, USA. 26. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. 27. Department of Neurology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA. 28. Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Salpetriere, Paris, France. 29. Department of Neurology, Icahn School of Medicine at Mount Sinai and Mount Sinai Beth Israel, New York, New York, USA. 30. Department of Medicine, University of Alberta, Edmonton, Alberta, Canada. 31. Department of Neurosciences, UC Riverside, Riverside, California, USA. 32. The Parkinson and Movement Disorder Institute, Fountain Valley, California, USA. 33. Departments of Neurology, Psychiatry, Radiology, Neurobiology, Physical Therapy and Occupational Therapy, Washington University School of Medicine, St. Louis, Missouri, USA. 34. Departments of Neurology, Human Genetics, and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA. 35. Department of Clinical Neurosciences & Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.
Abstract
BACKGROUND AND PURPOSE: Several clinical and demographic factors relate to anatomic spread of adult-onset isolated dystonia, but a predictive model is still lacking. The aims of this study were: (i) to develop and validate a predictive model of anatomic spread of adult-onset isolated dystonia; and (ii) to evaluate whether presence of tremor associated with dystonia influences model predictions of spread. METHODS: Adult-onset isolated dystonia participants with focal onset from the Dystonia Coalition Natural History Project database were included. We developed two prediction models, one with dystonia as sole disease manifestation ("dystonia-only") and one accepting dystonia OR tremor in any body part as disease manifestations ("dystonia OR tremor"). Demographic and clinical predictors were selected based on previous evidence, clinical plausibility of association with spread, or both. We used logistic regressions and evaluated model discrimination and calibration. Internal validation was carried out based on bootstrapping. RESULTS: Both predictive models showed an area under the curve of 0.65 (95% confidence intervals 0.62-0.70 and 0.62-0.69, respectively) and good calibration after internal validation. In both models, onset of dystonia in body regions other than the neck, older age, depression and history of neck trauma were predictors of spread. CONCLUSIONS: This predictive modeling of spread in adult-onset isolated dystonia based on accessible predictors (demographic and clinical) can be easily implemented to inform individuals' risk of spread. Because tremor did not influence prediction of spread, our results support the argument that tremor is a part of the dystonia syndrome, and not an independent or coincidental disorder.
BACKGROUND AND PURPOSE: Several clinical and demographic factors relate to anatomic spread of adult-onset isolated dystonia, but a predictive model is still lacking. The aims of this study were: (i) to develop and validate a predictive model of anatomic spread of adult-onset isolated dystonia; and (ii) to evaluate whether presence of tremor associated with dystonia influences model predictions of spread. METHODS: Adult-onset isolated dystonia participants with focal onset from the Dystonia Coalition Natural History Project database were included. We developed two prediction models, one with dystonia as sole disease manifestation ("dystonia-only") and one accepting dystonia OR tremor in any body part as disease manifestations ("dystonia OR tremor"). Demographic and clinical predictors were selected based on previous evidence, clinical plausibility of association with spread, or both. We used logistic regressions and evaluated model discrimination and calibration. Internal validation was carried out based on bootstrapping. RESULTS: Both predictive models showed an area under the curve of 0.65 (95% confidence intervals 0.62-0.70 and 0.62-0.69, respectively) and good calibration after internal validation. In both models, onset of dystonia in body regions other than the neck, older age, depression and history of neck trauma were predictors of spread. CONCLUSIONS: This predictive modeling of spread in adult-onset isolated dystonia based on accessible predictors (demographic and clinical) can be easily implemented to inform individuals' risk of spread. Because tremor did not influence prediction of spread, our results support the argument that tremor is a part of the dystonia syndrome, and not an independent or coincidental disorder.
Authors: Sara C LaHue; Kathleen Albers; Samuel Goldman; Raymond Y Lo; Zhuqin Gu; Amethyst Leimpeter; Robin Fross; Kathleen Comyns; Connie Marras; Annelie de Kleijn; Robin Smit; Maya Katz; Laurie J Ozelius; Susan Bressman; Rachel Saunders-Pullman; Cynthia Comella; Jeffrey Klingman; Lorene M Nelson; Stephen K Van Den Eeden; Caroline M Tanner Journal: Mov Disord Date: 2019-11-27 Impact factor: 10.338
Authors: Scott A Norris; H A Jinnah; Alberto J Espay; Christine Klein; Norbert Brüggemann; Richard L Barbano; Irene Andonia C Malaty; Ramon L Rodriguez; Marie Vidailhet; Emmanuel Roze; Stephen G Reich; Brian D Berman; Mark S LeDoux; Sarah Pirio Richardson; Pinky Agarwal; Zoltan Mari; William G Ondo; Ludy C Shih; Susan H Fox; Alfredo Berardelli; Claudia M Testa; Florence Ching-Fen Cheng; Daniel Truong; Fatta B Nahab; Tao Xie; Mark Hallett; Ami R Rosen; Laura J Wright; Joel S Perlmutter Journal: Mov Disord Date: 2016-10-18 Impact factor: 10.338
Authors: Aasef G Shaikh; Sinem Balta Beylergil; Laura Scorr; Gamze Kilic-Berkmen; Alan Freeman; Christine Klein; Johanna Junker; Sebastian Loens; Norbert Brüggemann; Alexander Münchau; Tobias Bäumer; Marie Vidailhet; Emmanuel Roze; Cecilia Bonnet; Joseph Jankovic; Joohi Jimenez-Shahed; Neepa Patel; Laura Marsh; Cynthia Comella; Richard L Barbano; Brian D Berman; Irene Malaty; Aparna Wagle Shukla; Stephen G Reich; Mark S Ledoux; Alfredo Berardelli; Gina Ferrazzano; Natividad Stover; William Ondo; Sarah Pirio Richardson; Rachel Saunders-Pullman; Zoltan Mari; Pinky Agarwal; Charles Adler; Sylvain Chouinard; Susan H Fox; Allison Brashear; Daniel Truong; Oksana Suchowersky; Samuel Frank; Stewart Factor; Joel Perlmutter; Hyder Azad Jinnah Journal: Neurology Date: 2020-10-12 Impact factor: 9.910
Authors: Mark S LeDoux; Satya R Vemula; Jianfeng Xiao; Misty M Thompson; Joel S Perlmutter; Laura J Wright; H A Jinnah; Ami R Rosen; Peter Hedera; Cynthia L Comella; Anne Weissbach; Johanna Junker; Joseph Jankovic; Richard L Barbano; Stephen G Reich; Ramon L Rodriguez; Brian D Berman; Sylvain Chouinard; Lawrence Severt; Pinky Agarwal; Natividad P Stover Journal: Neurol Genet Date: 2016-04-11