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

Dawei Liu, Jeffrey D. Long, Ying Zhang, Lynn A. Raymond, Karen Marder, Anne Rosser, Elizabeth A. McCusker, James A. Mills, Jane S. Paulsen

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2691-2698
Number of pages8
JournalJournal of neurology
Volume262
Issue number12
DOIs
StatePublished - Dec 1 2015

Keywords

  • Diagnosis
  • Diagnostic confidence level
  • Hidden Markov model
  • Huntington disease
  • Onset
  • Prediction

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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