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Updated: Jul 9, 2026
09:06
Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
Published on: June 9, 2018
Detection of Huntington's disease decades before diagnosis: the Predict-HD study
J S Paulsen1, D R Langbehn, J C Stout
1University of Iowa, Roy J and Lucille A Carver College of Medicine Research, 1-305 Medical Education Building, Iowa City, IA 52242-1000, USA. jane-paulsen@uiowa.edu
Journal of Neurology, Neurosurgery, and Psychiatry
|December 22, 2007
Summary
Huntington
Area of Science:
- Neuroscience
- Genetics
- Clinical Neurology
Background:
- Huntington's disease (HD) is a progressive neurodegenerative disorder.
- Early detection and understanding of HD progression are crucial for intervention.
- Current diagnostic criteria identify HD after significant functional decline.
Purpose of the Study:
- To investigate the early, pre-diagnostic stages of Huntington's disease (HD).
- To identify and validate early biomarkers for HD progression.
- To estimate the onset and initial course of HD manifestations relative to diagnosis.
Main Methods:
- Analysis of 438 participants with the HD gene mutation but without diagnostic criteria or functional decline.
- Non-linear modeling of cognitive, motor, psychiatric, and imaging measures.
- Utilizing estimated time to diagnosis (based on CAG repeat length and age) as a predictor.
Main Results:
- Estimated time to diagnosis correlated significantly with most clinical and neuroimaging markers.
- Detectable pathological changes in HD commence 10-20 years before clinical diagnosis.
- Findings demonstrated robustness across diverse markers and methodologies.
Conclusions:
- The Predict-HD study provides a timeline for measurable disease development in HD.
- Identified candidate biomarkers can inform the design of preventive clinical trials for HD.
- Understanding pre-diagnostic progression is key for future HD therapeutic strategies.
Related Concept Videos
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...