Chang Liu1, Laura Scorr2, Gamze Kilic-Berkmen3, Adam Cotton4, Stewart A Factor5, Alan Freeman6, ViLinh Tran7, Ken Liu8, Karan Uppal9, Dean Jones10, H A Jinnah11, Yan V Sun12. 1. Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA, USA. Electronic address: chang.liu2@emory.edu. 2. Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: laura.m.scorr@emory.edu. 3. Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: gamze.kilic.berkmen@emory.edu. 4. Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: akassem@emory.edu. 5. Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: sfactor@emory.edu. 6. Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: afreema@emory.edu. 7. Clinical Biomarkers Laboratory, Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: vilinh.tran@emory.edu. 8. Clinical Biomarkers Laboratory, Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: ken.liu@emory.edu. 9. Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: kuppal2@emory.edu. 10. Department of Pulmonary, Allergy, Critical Care and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: dpjones@emory.edu. 11. Jean and Paul Amos Parkinson's Disease and Movement Disorder Clinic Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: hjinnah@emory.edu. 12. Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA, USA; Department of Biomedical Informatics, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: yan.v.sun@emory.edu.
Abstract
INTRODUCTION: Cervical dystonia is the most common of the adult-onset focal dystonias. Most cases are idiopathic. The current view is that cervical dystonia may be caused by some combination of genetic and environmental factors. Genetic contributions have been studied extensively, but there are few studies of other factors. We conducted an exploratory metabolomics analysis of cervical dystonia to identify potentially abnormal metabolites or altered biological pathways. METHODS: Plasma samples from 100 cases with idiopathic cervical dystonia and 100 controls were compared using liquid chromatography coupled with mass spectrometry-based metabolomics. RESULTS: A total of 7346 metabolic features remained after quality control, and up to 289 demonstrated significant differences between cases and controls, depending on statistical criteria chosen. Pathway analysis revealed 9 biological processes to be significantly associated at p < 0.05, 5 pathways were related to carbohydrate metabolism, 3 pathways were related to lipid metabolism. CONCLUSION: This is the first large scale metabolomics study for any type of dystonia. The results may provide potential novel insights into the biology of cervical dystonia.
INTRODUCTION: Cervical dystonia is the most common of the adult-onset focal dystonias. Most cases are idiopathic. The current view is that cervical dystonia may be caused by some combination of genetic and environmental factors. Genetic contributions have been studied extensively, but there are few studies of other factors. We conducted an exploratory metabolomics analysis of cervical dystonia to identify potentially abnormal metabolites or altered biological pathways. METHODS: Plasma samples from 100 cases with idiopathic cervical dystonia and 100 controls were compared using liquid chromatography coupled with mass spectrometry-based metabolomics. RESULTS: A total of 7346 metabolic features remained after quality control, and up to 289 demonstrated significant differences between cases and controls, depending on statistical criteria chosen. Pathway analysis revealed 9 biological processes to be significantly associated at p < 0.05, 5 pathways were related to carbohydrate metabolism, 3 pathways were related to lipid metabolism. CONCLUSION: This is the first large scale metabolomics study for any type of dystonia. The results may provide potential novel insights into the biology of cervical dystonia.
Authors: Stewart A Factor; Pierre R Burkhard; Stanley Caroff; Joseph H Friedman; Connie Marras; Michele Tinazzi; Cynthia L Comella Journal: Lancet Neurol Date: 2019-07-03 Impact factor: 44.182
Authors: H A Jinnah; Alfredo Berardelli; Cynthia Comella; Giovanni Defazio; Mahlon R Delong; Stewart Factor; Wendy R Galpern; Mark Hallett; Christy L Ludlow; Joel S Perlmutter; Ami R Rosen Journal: Mov Disord Date: 2013-06-15 Impact factor: 10.338
Authors: Douglas I Walker; Kevin J Lane; Ken Liu; Karan Uppal; Allison P Patton; John L Durant; Dean P Jones; Doug Brugge; Kurt D Pennell Journal: J Expo Sci Environ Epidemiol Date: 2018-12-05 Impact factor: 5.563
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