Detection of Huntington's disease decades before diagnosis: The Predict-HD study

J. S. Paulsen, D. R. Langbehn, J. C. Stout, E. Aylward, C. A. Ross, M. Nance, M. Guttman, S. Johnson, M. MacDonald, L. J. Beglinger, K. Duff, E. Kayson, K. Biglan, I. Shoulson, D. Oakes, M. Hayden

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: The objective of the Predict-HD study is to use genetic, neurobiological and refined clinical markers to understand the early progression of Huntington's disease (HD), prior to the point of traditional diagnosis, in persons with a known gene mutation. Here we estimate the approximate onset and initial course of various measurable aspects of HD relative to the time of eventual diagnosis. Methods: We studied 438 participants who were positive for the HD gene mutation, but did not yet meet the diagnostic criteria for HD and had no functional decline. Predictability of baseline cognitive, motor, psychiatric and imaging measures was modelled non-linearly using estimated time until diagnosis (based on CAG repeat length and current age) as the predictor. Results: Estimated time to diagnosis was related to most clinical and neuroimaging markers. The patterns of association suggested the commencement of detectable changes one to two decades prior to the predicted time of clinical diagnosis. The patterns were highly robust and consistent, despite the varied types of markers and diverse measurement methodologies. Conclusions: These findings from the Predict-HD study suggest the approximate time scale of measurable disease development, and suggest candidate disease markers for use in preventive HD trials.

Original languageEnglish (US)
Pages (from-to)874-880
Number of pages7
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume79
Issue number8
DOIs
StatePublished - Aug 2008

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health

Fingerprint Dive into the research topics of 'Detection of Huntington's disease decades before diagnosis: The Predict-HD study'. Together they form a unique fingerprint.

Cite this