Journal article
Motor onset and diagnosis in Huntington disease using the diagnostic confidence level
Journal of neurology, Vol.262(12), pp.2691-2698
12/2015
DOI: 10.1007/s00415-015-7900-7
PMCID: PMC4666501
PMID: 26410751
Abstract
Huntington disease (HD) is a neurodegenerative disorder characterized by motor dysfunction, cognitive deterioration, and psychiatric symptoms, with progressive motor impairments being a prominent feature. The primary objectives of this study are to delineate the disease course of motor function in HD, to provide estimates of the onset of motor impairments and motor diagnosis, and to examine the effects of genetic and demographic variables on the progression of motor impairments. Data from an international multisite, longitudinal observational study of 905 prodromal HD participants with cytosine-adenine-guanine (CAG) repeats of at least 36 and with at least two visits during the followup period from 2001 to 2012 was examined for changes in the diagnostic confidence level from the Unified Huntington's Disease Rating Scale. HD progression from unimpaired to impaired motor function, as well as the progression from motor impairment to diagnosis, was associated with the linear effect of age and CAG repeat length. Specifically, for every 1-year increase in age, the risk of transition in diagnostic confidence level increased by 11% (95% CI 7-15%) and for one repeat length increase in CAG, the risk of transition in diagnostic confidence level increased by 47% (95% CI 27-69%). Findings show that CAG repeat length and age increased the likelihood of the first onset of motor impairment as well as the age at diagnosis. Results suggest that more accurate estimates of HD onset age can be obtained by incorporating the current status of diagnostic confidence level into predictive models.
Details
- Title: Subtitle
- Motor onset and diagnosis in Huntington disease using the diagnostic confidence level
- Creators
- Dawei Liu - Biogen, 300 Binney Street, Cambridge, MA, 02142, USAJeffrey D Long - Department of Biostatistics, College of Public Health, The University of Iowa, S160 CPHB, 145 N. Riverside Drive, Iowa City, IA, 52242, USAYing Zhang - Department of Biostatistics, Indiana University Fairbanks School of Public Health, 410 W. Tenth Street, Suite 3000, Indianapolis, IN, 46202, USALynn A Raymond - Department of Psychiatry and Brain Research Centre, University of British Columbia, Detwiller Pavilion, 2255 Wesbrook Mall, Vancouver, BC, V6T 2A1, CanadaKaren Marder - Department of Psychiatry, Columbia University Medical Center, 622 West 168th Street, New York, NY, 10032, USAAnne Rosser - School of Biosciences, Cardiff University, The Sir Martin Evans Building, Museum Avenue, Cardiff, CF10 3AX, UKElizabeth A McCusker - Department of Neurology, Westmead Hospital, The University of Sydney, Cnr Hawkesbury and Darcy Roads, Westmead, NSW, 2145, AustraliaJames A Mills - Department of Psychiatry, Carver College of Medicine, The University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242, USAJane S Paulsen - Department of Psychology, The University of Iowa, E11 Seashore Hall, Iowa City, IA, 52242, USA. predict-publications@uiowa.eduPREDICT-HD Investigators and Coordinators of the Huntington Study Group
- Resource Type
- Journal article
- Publication Details
- Journal of neurology, Vol.262(12), pp.2691-2698
- DOI
- 10.1007/s00415-015-7900-7
- PMID
- 26410751
- PMCID
- PMC4666501
- NLM abbreviation
- J Neurol
- ISSN
- 0340-5354
- eISSN
- 1432-1459
- Publisher
- Germany
- Grant note
- MR/L010305/1 / Medical Research Council R01 NS040068 / NINDS NIH HHS 5R01NS040068 / NINDS NIH HHS UL1 TR001108 / NCATS NIH HHS R01 NS054893 / NINDS NIH HHS 2 UL1 TR000442-06 / NCATS NIH HHS 5R01NS054893 / NINDS NIH HHS UL1 TR000442 / NCATS NIH HHS R01 HG003330 / NHGRI NIH HHS UL1 TR002529 / NCATS NIH HHS
- Language
- English
- Date published
- 12/2015
- Academic Unit
- Psychiatry; Psychological and Brain Sciences; Biostatistics
- Record Identifier
- 9984003489702771
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