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

Open access
Paulsen, J S, Langbehn, D R, Stout, J C, Aylward, E, Ross, C A, Nance, M, Guttman, M, Johnson, S, MacDonald, M, Beglinger, L J, Duff, K, Kayson, E, Biglan, K, Shoulson, I, Oakes, D, Hayden, M, The Predict-HD Investigators and Coordinators of the Huntington Study Group·2008·Journal of Neurology, Neurosurgery & Psychiatry

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.

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Metadata

Authors
Paulsen, J. S., Langbehn, D. R., Stout, J. C., Aylward, E., Ross, C. A., Nance, M., Guttman, M., Johnson, S., MacDonald, M., Beglinger, L. J., Duff, K., Kayson, E., Biglan, K., Shoulson, I., Oakes, D., Hayden, M., & The Predict-HD Investigators and Coordinators of the Huntington Study Group
Venue
Journal of Neurology, Neurosurgery & Psychiatry
Publisher
BMJ
Published
2008-08-01
Volume
79
Issue
8
Pages
874-880
ISSN
0022-3050 (ISSN-L)
OpenAlex
W2162229008
Cited by
804
References
33
FWCI
10.39
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Detection of Huntington's disease decades before diagnosis: the Predict-HD study. https://app.cochat.ai/papers/10.1136/jnnp.2007.128728
The paper
Paulsen, J. S., Langbehn, D. R., Stout, J. C., Aylward, E., Ross, C. A., Nance, M., Guttman, M., Johnson, S., MacDonald, M., Beglinger, L. J., Duff, K., Kayson, E., Biglan, K., Shoulson, I., Oakes, D., Hayden, M., & The Predict-HD Investigators and Coordinators of the Huntington Study Group. (2008). Detection of Huntington's disease decades before diagnosis: the Predict-HD study. Journal of Neurology, Neurosurgery & Psychiatry. https://doi.org/10.1136/jnnp.2007.128728

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.