Non‐motor phenotypic subgroups in adult‐onset idiopathic, isolated, focal cervical dystonia

Brain and Behavior - Tập 11 Số 8 - 2021
Megan E. Wadon1, Grace A. Bailey1, Zehra Yilmaz2,1, Emily Hubbard3, Meshari Alsaeed4,3, Amy Robinson3, Duncan McLauchlan1, Richard L. Barbano5, Laura Marsh6, Stewart A. Factor7, Susan Fox8,9, Charles H. Adler10, Ramon L. Rodriguez11, Cynthia Comella12, Stephen G. Reich13, William Severt14, Christopher G. Goetz12, Joel S. Perlmutter15, Hyder A. Jinnah7, Katharine Harding16, Cynthia Sandor17, Kathryn J. Peall1
1Neuroscience and Mental Health Research Institute, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Maindy Road, Cardiff, CF24 4HQ UK
2Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
3School of Medicine, Cardiff University, Heath Park Campus, Cardiff, CF14 4YS UK
4Division of Neurology, University of British Columbia, Wesbrook Mall, Vancouver, British Columbia, V6T 2B5 Canada
5Department of Neurology, University of Rochester, Elmwood Avenue, Rochester, New York, NY 14642 USA
6Menninger Department of Psychiatry, Baylor College of Medicine, Butler Boulevard, Houston, Texas, 77030 USA
7Departments of Neurology & Human Genetics, Emory University, Woodruff Circle, Atlanta, Georgia, 30322 USA
8Department of Medicine University of Toronto Queen’s Park Crescent West Toronto Ontario M5S 3H2 Canada
9Edmond J Safra Program in Parkinson Disease, Movement Disorder Clinic, Toronto Western Hospital, Bathurst Street, Toronto, Ontario, M5T 2S8 Canada
10The Parkinson's Disease and Movement Disorders Center, Mayo Clinic, Department of Neurology, East Shea Boulevard, Scottsdale, Arizona, 85259 USA
11Department of Neurology, University of Florida, Newell Drive, Gainesville, Florida, 32611 USA
12Department of Neurological Sciences, Rush University Medical Center, West Harrison Street, Chicago, Illinois, 60612 USA
13Department of Neurology, University of Maryland School of Medicine, south Paca Street, Baltimore, Maryland, 21201 USA
14Beth Israel Medical Center, First Avenue, New York, New York, 10003 USA
15Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy, Washington University School of Medicine, South Euclid Avenue, St. Louis, Missouri, 63110 USA
16Department of Neurology, Aneurin Bevan University Health Board, Corporation Road, Newport, NP19 0BH UK
17UK Dementia Research Institute, Cardiff University, Maindy Road, Cardiff CF24 4HQ, UK

Tóm tắt

AbstractBackground: 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.

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Brain and Behavior

Tập 11 Số 8

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