Abstract
Purpose: This study examined the relationships between different aspects of motor dysfunction (chorea, dystonia, rigidity, incoordination, oculomotor dysfunction, dysarthria, and gait difficulties) and functional status in persons with Huntington's disease. Methods: A total of 527 persons with Huntington's disease completed the Unified Huntington's Disease Rating Scale motor, total functional capacity, and functional assessments. Results: Confirmatory factor analysis indicated that a 4-factor model provided a better model fit than the existing 5-factor model. Exploratory factor analysis identified the following 4 factors from the motor scale: dystonia, chorea, rigidity, and a general motor factor. Regression indicated that dystonia (β = −0.47 and −0.79) and rigidity (β = −0.28 and −0.59) had strong associations with function, whereas chorea had modest correlations (β = −0.16 and −0.15). Conclusions: Dystonia and rigidity have stronger relationships with functional status than chorea in persons with Huntington's disease. The findings underscore the need for further research regarding the effects of dystonia and rigidity on functioning.
Original language | English |
---|---|
Pages (from-to) | 1910-1914 |
Number of pages | 5 |
Journal | Movement Disorders |
Volume | 34 |
Issue number | 12 |
DOIs | |
State | Published - Dec 1 2019 |
Keywords
- HDQLIFE
- Health-related quality of life
- Huntington's disease
- chorea
- dystonia
- motor function
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In: Movement Disorders, Vol. 34, No. 12, 01.12.2019, p. 1910-1914.
Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - How different aspects of motor dysfunction influence day-to-day function in huntington's disease
AU - Carlozzi, Noelle E.
AU - Schilling, Stephen G.
AU - Boileau, Nicholas R.
AU - Chou, Kelvin L.
AU - Perlmutter, Joel S.
AU - Frank, Samuel
AU - McCormack, Michael K.
AU - Stout, Julie C.
AU - Paulsen, Jane S.
AU - Lai, Jin Shei
AU - Dayalu, Praveen
N1 - Funding Information: Carlozzi, N.E. is supported by research grants from the NIH, the Neilsen Foundation, and CHDI, as well as contracts from Goldfinch, LLC, and Health and Human Services – Centers for Medicare & Medicaid Services; she receives honoraria for her role on the CHDI scientific advisory board; she declares no conflicts of interest.Schilling, S.G. has a research grant from NSF. He also is supported by grant funding from NIH. He declares no conflicts of interest. Boileau, N.R. has been supported by research grants from the NIH, the Neilsen Foundation, and CHDI. Chou KL has received research support from the NIH (NS091856‐01, NS10061102, NS107158), Parkinson Study Group (STEADY‐PD III,SURE‐PD3, NILO‐PD), and Eli Lilly. He has been a consultant for Accordant, Boston Scientific, and Sunovion Pharmaceuticals. He also receives royaltiesfrom UpToDate and Springer Publishing.Perlmutter, J.S. currently has funding from the NIH (NINDS, NIA, NCATS), HDSA, CHDI, Barnes Jewish Hospital Foundation, the Fixel Foundation, the Riney Foundation and APDA. He has received honoraria from the University of Rochester, American Academy of Neurology, Movement Disorders Society, Emory U, Huntington Study Group, CHDI, Parkinson Disease Foundation, Columbia University, St. Louis University, Beth Israel Hospital (Harvard University), Stanford University, U Pennsylvania and the University of Michigan. Frank, S. receives grant support from Michael J Fox Foundation, CHDI, Roche, Vaccinex/Huntington Study Group and the Parkinson Study Group. In the past 12 months, he has received no personal, direct compensation from any pharmaceutical companies with a marketed product in the US. There is no conflict of interest. McCormack, M.K. currently has grants from the NJ Department of Health; he declares no conflicts of interest. Stout, J.C. has received research funding from the Australian National Health and Medical Research Council, University College London, the CHDI Foundation, Prana Biotechnology, and the University ofCalifornia, Davis. She is a Director of Stout Neuropsych Pty Ltd, which has received funding from Omeros, Teva Pharmaceuticals, Vaccinex, and Isis. She has been a consultant to Prana Biotechnology and Roche. She receives compensation as a member of the Board of the Huntington's Study Group. Paulsen, J.S. has received grant funding from NIH, Blue Sky Foundation, and CHDI; she declares no conflicts of interest. Lai J.‐S. currently is supported by grants from the NIH; she declares no conflicts of interest. Dayalu, P. is supported by grants from Vaccinex and CHDI. He declares no conflicts of interest. Funding Information: Dystonia and rigidity have stronger relationships with functional status than chorea in persons with Huntington's disease. The findings underscore the need for further research regarding the effects of dystonia and rigidity on functioning. © 2019 International Parkinson and Movement Disorder Society Funding agencies: This work was supported by the National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (R01NS077946), and the National Center for Advancing Translational Sciences (UL1TR000433) . Relevant conflicts of interests/financial disclosures: Nothing to report. Motor dysfunction is multifaceted, involves all body regions, and profoundly affects day‐to‐day function. Most studies and interventions focus on chorea, which can appear as fidgety, jerky, or dance‐like movements. Chorea and dystonia are the only motor symptoms known to respond to pharmacotherapy. By mid‐stage to late‐stage HD, motor problems steadily worsen even if chorea remains controlled. Motor dysfunction is a major driver of functional loss in HD. Huntington's disease (HD) is an autosomal‐dominant neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline. The present study builds on this research by examining UHDRS motor and function ratings in a large sample of people with HD. The goal was twofold: (1) repeat a factor analysis on the UHDRS motor scale, comparing it with the 5 factors identified previously, and (2) determine which motor factors best relate to functional status in HD. The Unified Huntington's Disease Rating Scale (UHDRS) Motor Scale is one of the most commonly used assessments in HD. Although the motor scale includes clinician ratings of eye movements, chorea, dystonia, rigidity, speech, gait, postural stability, and bradykinesia, prior research suggests that the motor scale could be consolidated and further improved. Funding Information: This work was supported by the National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (R01NS077946), and the National Center for Advancing Translational Sciences (UL1TR000433) . In addition, a portion of this study sample was collected in conjunction with the Predict‐HD study. The Predict‐HD was supported by the National Institutes of Health, National Institute of Neurological Disorders and Stroke (R01NS040068), Center for Inherited Disease Research (provided supported for sample phenotyping), and the CHDI Foundation (award to the University of Iowa). We thank the University of Iowa, the investigators and coordinators of this study, the study participants, the National Research Roster for Huntington Disease Patients and Families, the Huntington Study Group, and the Huntington's Disease Society of America. We acknowledge the assistance of Jeffrey D. Long, Hans J. Johnson, Jeremy H. Bockholt, Roland Zschiegner, and Jane S. Paulsen. We also acknowledge Roger Albin, Kelvin Chou, and Henry Paulsen for the assistance with participant recruitment. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. HDQLIFE site investigators and coordinators: Noelle Carlozzi, Praveen Dayalu, Stephen Schilling, Amy Austin, Matthew Canter, Siera Goodnight, Jennifer Miner, Nicholas Migliore (University of Michigan, Ann Arbor, MI); Jane Paulsen, Nancy Downing, Isabella DeSoriano, Courtney Shadrick, Amanda Miller (University of Iowa, Iowa City, IA); Kimberly Quaid, Melissa Wesson (Indiana University, Indianapolis, IN); Christopher Ross, Gregory Churchill, Mary Jane Ong (Johns Hopkins University, Baltimore, MD); Susan Perlman, Brian Clemente, Aaron Fisher, Gloria, Obialisi, Michael Rosco (University of California Los Angeles, Los Angeles, CA); Michael McCormack, Humberto Marin, Allison Dicke (Rutgers University, Piscataway, NJ); Joel S Perlmutter, Stacey Barton, Shineeka Smith (Washington University in St. Louis, St. Louis, MO); Martha Nance, Pat Ede (Struthers Parkinson's Center 6701 Country Club Dr.Golden Valley, MN); Stephen Rao, Anwar Ahmed, Michael Lengen, Lyla Mourany, Christine Reece (Cleveland Clinic Foundation, Cleveland, OH); Michael Geschwind, Joseph Winer (University of California–San Francisco, San Francisco, CA), David Cella, Richard Gershon, Elizabeth Hahn, Jin‐Shei Lai (Northwestern University, Chicago, IL). Funding Information: This work was supported by the National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (R01NS077946), and the National Center for Advancing Translational Sciences (UL1TR000433). In addition, a portion of this study sample was collected in conjunction with the Predict-HD study. The Predict-HD was supported by the National Institutes of Health, National Institute of Neurological Disorders and Stroke (R01NS040068), Center for Inherited Disease Research (provided supported for sample phenotyping), and the CHDI Foundation (award to the University of Iowa). We thank the University of Iowa, the investigators and coordinators of this study, the study participants, the National Research Roster for Huntington Disease Patients and Families, the Huntington Study Group, and the Huntington's Disease Society of America. We acknowledge the assistance of Jeffrey D. Long, Hans J. Johnson, Jeremy H. Bockholt, Roland Zschiegner, and Jane S. Paulsen. We also acknowledge Roger Albin, Kelvin Chou, and Henry Paulsen for the assistance with participant recruitment. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. HDQLIFE site investigators and coordinators: Noelle Carlozzi, Praveen Dayalu, Stephen Schilling, Amy Austin, Matthew Canter, Siera Goodnight, Jennifer Miner, Nicholas Migliore (University of Michigan, Ann Arbor, MI); Jane Paulsen, Nancy Downing, Isabella DeSoriano, Courtney Shadrick, Amanda Miller (University of Iowa, Iowa City, IA); Kimberly Quaid, Melissa Wesson (Indiana University, Indianapolis, IN); Christopher Ross, Gregory Churchill, Mary Jane Ong (Johns Hopkins University, Baltimore, MD); Susan Perlman, Brian Clemente, Aaron Fisher, Gloria, Obialisi, Michael Rosco (University of California Los Angeles, Los Angeles, CA); Michael McCormack, Humberto Marin, Allison Dicke (Rutgers University, Piscataway, NJ); Joel S Perlmutter, Stacey Barton, Shineeka Smith (Washington University in St. Louis, St. Louis, MO); Martha Nance, Pat Ede (Struthers Parkinson's Center 6701 Country Club Dr.Golden Valley, MN); Stephen Rao, Anwar Ahmed, Michael Lengen, Lyla Mourany, Christine Reece (Cleveland Clinic Foundation, Cleveland, OH); Michael Geschwind, Joseph Winer (University of California?San Francisco, San Francisco, CA), David Cella, Richard Gershon, Elizabeth Hahn, Jin-Shei Lai (Northwestern University, Chicago, IL). Publisher Copyright: © 2019 International Parkinson and Movement Disorder Society
PY - 2019/12/1
Y1 - 2019/12/1
N2 - Purpose: This study examined the relationships between different aspects of motor dysfunction (chorea, dystonia, rigidity, incoordination, oculomotor dysfunction, dysarthria, and gait difficulties) and functional status in persons with Huntington's disease. Methods: A total of 527 persons with Huntington's disease completed the Unified Huntington's Disease Rating Scale motor, total functional capacity, and functional assessments. Results: Confirmatory factor analysis indicated that a 4-factor model provided a better model fit than the existing 5-factor model. Exploratory factor analysis identified the following 4 factors from the motor scale: dystonia, chorea, rigidity, and a general motor factor. Regression indicated that dystonia (β = −0.47 and −0.79) and rigidity (β = −0.28 and −0.59) had strong associations with function, whereas chorea had modest correlations (β = −0.16 and −0.15). Conclusions: Dystonia and rigidity have stronger relationships with functional status than chorea in persons with Huntington's disease. The findings underscore the need for further research regarding the effects of dystonia and rigidity on functioning.
AB - Purpose: This study examined the relationships between different aspects of motor dysfunction (chorea, dystonia, rigidity, incoordination, oculomotor dysfunction, dysarthria, and gait difficulties) and functional status in persons with Huntington's disease. Methods: A total of 527 persons with Huntington's disease completed the Unified Huntington's Disease Rating Scale motor, total functional capacity, and functional assessments. Results: Confirmatory factor analysis indicated that a 4-factor model provided a better model fit than the existing 5-factor model. Exploratory factor analysis identified the following 4 factors from the motor scale: dystonia, chorea, rigidity, and a general motor factor. Regression indicated that dystonia (β = −0.47 and −0.79) and rigidity (β = −0.28 and −0.59) had strong associations with function, whereas chorea had modest correlations (β = −0.16 and −0.15). Conclusions: Dystonia and rigidity have stronger relationships with functional status than chorea in persons with Huntington's disease. The findings underscore the need for further research regarding the effects of dystonia and rigidity on functioning.
KW - HDQLIFE
KW - Health-related quality of life
KW - Huntington's disease
KW - chorea
KW - dystonia
KW - motor function
UR - http://www.scopus.com/inward/record.url?scp=85074357298&partnerID=8YFLogxK
U2 - 10.1002/mds.27866
DO - 10.1002/mds.27866
M3 - Article
C2 - 31609508
AN - SCOPUS:85074357298
SN - 0885-3185
VL - 34
SP - 1910
EP - 1914
JO - Movement Disorders
JF - Movement Disorders
IS - 12
ER -