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Motor onset and diagnosis in Huntington disease using the diagnostic confidence level

Liu, Dawei, Long, Jeffrey D., Zhang, Ying, Raymond, Lynn A., Marder, Karen, Rosser, Anne Elizabeth, McCusker, Elizabeth A., Mills, James A. and Paulsen, Jane S. 2015. Motor onset and diagnosis in Huntington disease using the diagnostic confidence level. Journal of Neurology 262 (12) , pp. 2691-2698. 10.1007/s00415-015-7900-7

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Biosciences
Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Uncontrolled Keywords: Huntington disease, Hidden Markov model, Diagnostic confidence level, Prediction Diagnosis Onset
Publisher: Springer
ISSN: 0340-5354
Date of Acceptance: 8 September 2015
Last Modified: 07 Jun 2019 09:59
URI: http://orca.cf.ac.uk/id/eprint/80189

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