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

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• 作者：Dawei Liu ; Jeffrey D. Long ; Ying Zhang ; Lynn A. Raymond…
• 关键词：Huntington disease ; Hidden Markov model ; Diagnostic confidence level ; Prediction ; Diagnosis ; Onset
• 刊名：Journal of Neurology
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：262
• 期：12
• 页码：2691-2698
• 全文大小：494 KB
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• 作者单位：Dawei Liu (1) (2)
  Jeffrey D. Long (1) (3)
  Ying Zhang (4)
  Lynn A. Raymond (5)
  Karen Marder (6) (7)
  Anne Rosser (8) (9)
  Elizabeth A. McCusker (10)
  James A. Mills (1)
  Jane S. Paulsen (1) (11) (12)
  The PREDICT-HD Investigators and Coordinators of the Huntington Study Group
  
  1. Department of Psychiatry, Carver College of Medicine, The University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242, USA
  2. Biogen, 300 Binney Street, Cambridge, MA, 02142, USA
  3. Department of Biostatistics, College of Public Health, The University of Iowa, S160 CPHB, 145?N. Riverside Drive, Iowa City, IA, 52242, USA
  4. Department of Biostatistics, Indiana University Fairbanks School of Public Health, 410?W. Tenth Street, Suite 3000, Indianapolis, IN, 46202, USA
  5. Department of Psychiatry and Brain Research Centre, University of British Columbia, Detwiller Pavilion, 2255 Wesbrook Mall, Vancouver, BC, V6T 2A1, Canada
  6. Department of Neurology, Gertrude H. Sergievsky Center, Taub Institute on Alzheimers Disease and the Aging Brain, Columbia University College of Physicians and Surgeons, 710 West 168th Street, New York, NY, 10032, USA
  7. Department of Psychiatry, Columbia University Medical Center, 622 West 168th Street, New York, NY, 10032, USA
  8. Institute for Psychological Medicine and Clinical Neurosciences, Cardiff University School of Medicine, Hadyn Ellis Building, Maindy Road, Cathays, Cardiff, CF24 4HQ, UK
  9. School of Biosciences, Cardiff University, The Sir Martin Evans Building, Museum Avenue, Cardiff, CF10 3AX, UK
  10. Department of Neurology, Westmead Hospital, The University of Sydney, Cnr Hawkesbury and Darcy Roads, Westmead, NSW, 2145, Australia
  11. Department of Neurology, Carver College of Medicine, The University of Iowa, 2007 Roy Carver Pavilion, 200 Hawkins Drive, Iowa City, IA, 52242, USA
  12. Department of Psychology, The University of Iowa, E11 Seashore Hall, Iowa City, IA, 52242, USA
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Neurology
  Neurosciences
  Neuroradiology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1459

文摘

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 7-5 %) and for one repeat length increase in CAG, the risk of transition in diagnostic confidence level increased by 47 % (95 % CI 27-9 %). 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. Keywords Huntington disease Hidden Markov model Diagnostic confidence level Prediction Diagnosis Onset