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Detection of Huntington’s disease decades before diagnosis: The Predict HD study
  1. J S Paulsen (jane-paulsen{at}uiowa.edu)
  1. University of Iowa, United States
    1. D R Langbehn (douglas-langbehn{at}uiowa.edu)
    1. University of Iowa, United States
      1. J C Stout (jcstout{at}indiana.edu)
      1. Indiana University, United States
        1. E Aylward (eaylward{at}u.washington.edu)
        1. Dept. of Radiology, University of Washington, United States
          1. C A Ross (caross{at}jhu.edu)
          1. Johns Hopkins University School of Medicine, United States
            1. M Nance (nancem{at}parknicollet.com)
            1. Park Nicollet Clinic; Dept of Neurosciences, United States
              1. M Guttman (mguttman{at}movementdisorders.ca)
              1. The Centre for Movement Disorders, Canada
                1. S Johnson (sjohnso4{at}indiana.edu)
                1. Indiana University, United States
                  1. M McDonald (macdonam{at}helix.mgh.harvard.edu)
                  1. Massachusetts General Hospital, United States
                    1. L J Beglinger (leigh-beglinger{at}uiowa.edu)
                    1. University of Iowa, United States
                      1. K Duff (kevin-duff{at}uiowa.edu)
                      1. University of Iowa, United States
                        1. E Kayson (elise.kayson{at}ctcc.rochester.edu)
                        1. University of Rochester, United States
                          1. K Biglan (kevin.biglan{at}ctcc.rochester.edu)
                          1. University of Rochester, United States
                            1. I Shoulson (ira.shoulson{at}ctcc.rochester.edu)
                            1. University of Rochester, United States
                              1. D Oakes (oakes{at}bst.rochester.edu)
                              1. University of Rochester, United States
                                1. M Hayden (mrh{at}cmmt.ubc.ca)
                                1. University of British Columbia, Canada

                                  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 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 modeled nonlinearly, 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 timescale of measurable disease development, and suggest candidate disease markers for use in preventive HD trials.

                                  • Detection
                                  • Huntington's disease
                                  • Markers

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