Non-motor phenotypic subgroups in adult-onset idiopathic, isolated, focal cervical dystonia.
Megan E Wadon, Grace A Bailey, Zehra Yilmaz, Emily Hubbard, Meshari AlSaeed, Amy Robinson, Duncan McLauchlan, Richard L Barbano, Laura Marsh, Stewart A Factor, Susan H Fox, Charles H Adler, Ramon L Rodriguez, Cynthia L Comella, Stephen G Reich, William L Severt, Christopher G Goetz, Joel S Perlmutter, Hyder A Jinnah, Katharine E Harding, Cynthia Sandor, Kathryn J Peall
Author Information
Megan E Wadon: Neuroscience and Mental Health Research Institute, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Maindy Road, Cardiff, CF24 4HQ, UK. ORCID
Grace A Bailey: Neuroscience and Mental Health Research Institute, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Maindy Road, Cardiff, CF24 4HQ, UK.
Zehra Yilmaz: Neuroscience and Mental Health Research Institute, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Maindy Road, Cardiff, CF24 4HQ, UK.
Emily Hubbard: School of Medicine, Cardiff University, Heath Park Campus, Cardiff, CF14 4YS, UK.
Meshari AlSaeed: School of Medicine, Cardiff University, Heath Park Campus, Cardiff, CF14 4YS, UK.
Amy Robinson: School of Medicine, Cardiff University, Heath Park Campus, Cardiff, CF14 4YS, UK.
Duncan McLauchlan: Neuroscience and Mental Health Research Institute, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Maindy Road, Cardiff, CF24 4HQ, UK.
Richard L Barbano: Department of Neurology, University of Rochester, Elmwood Avenue, Rochester, New York, NY 14642, USA.
Laura Marsh: Menninger Department of Psychiatry, Baylor College of Medicine, Butler Boulevard, Houston, Texas, 77030, USA.
Stewart A Factor: Departments of Neurology & Human Genetics, Emory University, Woodruff Circle, Atlanta, Georgia, 30322, USA.
Susan H Fox: Edmond J Safra Program in Parkinson Disease, Movement Disorder Clinic, Toronto Western Hospital, Bathurst Street, Toronto, Ontario, M5T 2S8, Canada.
Charles H Adler: The Parkinson's Disease and Movement Disorders Center, Mayo Clinic, Department of Neurology, East Shea Boulevard, Scottsdale, Arizona, 85259, USA.
Ramon L Rodriguez: Department of Neurology, University of Florida, Newell Drive, Gainesville, Florida, 32611, USA.
Cynthia L Comella: Department of Neurological Sciences, Rush University Medical Center, West Harrison Street, Chicago, Illinois, 60612, USA.
Stephen G Reich: Department of Neurology, University of Maryland School of Medicine, south Paca Street, Baltimore, Maryland, 21201, USA.
William L Severt: Beth Israel Medical Center, First Avenue, New York, New York, 10003, USA.
Christopher G Goetz: Department of Neurological Sciences, Rush University Medical Center, West Harrison Street, Chicago, Illinois, 60612, USA.
Joel S Perlmutter: Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy, Washington University School of Medicine, South Euclid Avenue, St. Louis, Missouri, 63110, USA.
Hyder A Jinnah: Departments of Neurology & Human Genetics, Emory University, Woodruff Circle, Atlanta, Georgia, 30322, USA.
Katharine E Harding: Department of Neurology, Aneurin Bevan University Health Board, Corporation Road, Newport, NP19 0BH, UK.
Cynthia Sandor: UK Dementia Research Institute, Cardiff University, Maindy Road, Cardiff, CF24 4HQ, UK.
Kathryn J Peall: Neuroscience and Mental Health Research Institute, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Maindy Road, Cardiff, CF24 4HQ, UK.
BACKGROUND: Non-motor symptoms are well established phenotypic components of adult-onset idiopathic, isolated, focal cervical dystonia (AOIFCD). However, improved understanding of their clinical heterogeneity is needed to better target therapeutic intervention. Here, we examine non-motor phenotypic features to identify possible AOIFCD subgroups. METHODS: Participants diagnosed with AOIFCD were recruited via specialist neurology clinics (dystonia wales: n = 114, dystonia coalition: n = 183). Non-motor assessment included psychiatric symptoms, pain, sleep disturbance, and quality of life, assessed using self-completed questionnaires or face-to-face assessment. Both cohorts were analyzed independently using Cluster, and Bayesian multiple mixed model phenotype analyses to investigate the relationship between non-motor symptoms and determine evidence of phenotypic subgroups. RESULTS: Independent cluster analysis of the two cohorts suggests two predominant phenotypic subgroups, one consisting of approximately a third of participants in both cohorts, experiencing increased levels of depression, anxiety, sleep impairment, and pain catastrophizing, as well as, decreased quality of life. The Bayesian approach reinforced this with the primary axis, which explained the majority of the variance, in each cohort being associated with psychiatric symptomology, and also sleep impairment and pain catastrophizing in the Dystonia Wales cohort. CONCLUSIONS: Non-motor symptoms accompanying AOIFCD parse into two predominant phenotypic sub-groups, with differences in psychiatric symptoms, pain catastrophizing, sleep quality, and quality of life. Improved understanding of these symptom groups will enable better targeted pathophysiological investigation and future therapeutic intervention.
