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Updated: Jan 15, 2026

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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
Published on: June 9, 2018
12.6K
Systematic Review with Meta-Analysis of Biofluid Markers for Huntington's Disease
Jane S Paulsen1, Natalie A Bovin1,2, Jordan D Clemsen3
1Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
Summary
Huntington
Area of Science:
- Neuroscience
- Biomarkers
- Clinical Trials
Background:
- Huntington's disease (HD) requires long-term therapy before motor diagnosis.
- Early intervention necessitates sensitive biomarkers reflecting disease progression.
- Current early-stage HD diagnosis relies on MRI-detected structural decline.
Purpose of the Study:
- To systematically review and meta-analyze biofluid markers for Huntington's disease.
- To identify validated biomarkers for pre-symptomatic, early-stage, and mid-stage HD.
- To address limitations in current HD biomarker research and improve clinical trial methodology.
Main Methods:
- Systematic literature search identifying 804 records.
- Meta-analysis of 55 studies with reproducible findings.
- Evaluation of biofluid markers including NfL, hydroxycholesterols, tau, cortisol, HDL, and mHTT.
Main Results:
- Neurofilament light (NfL) is a validated prognostic biomarker for pre-symptomatic HD.
- Four markers (24-OHC, 27-OHC, NfL, T-tau) are validated for early-stage HD.
- Four markers (cortisol, HDL, mHTT, HTT) are validated for mid-stage HD.
Conclusions:
- Eight biofluid markers are supported for validation across HD stages.
- Improved reporting and rigor are needed to advance HD clinical trial methodology.
- Validated biomarkers are crucial for effective Huntington's disease therapeutic strategies.

