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Huntington Disease l: Introduction

Huntington 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...

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Related Experiment Video

Updated: May 2, 2026

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Published on: June 9, 2018

Biomarker development for Huntington's disease.

Ralph Andre¹, Rachael I Scahill¹, Salman Haider¹

¹UCL Institute of Neurology, Department of Neurodegenerative Disease, Queen Square, London WC1N 3BG, UK.

Drug Discovery Today

|March 18, 2014

Summary

This summary is machine-generated.

Huntington's disease (HD) research focuses on developing reliable biomarkers to track disease progression and test new treatments. These biomarkers are crucial for evaluating therapies aimed at delaying symptom onset in pre-manifest gene carriers.

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Last Updated: May 2, 2026

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

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Published on: June 9, 2018

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Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy

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Published on: June 27, 2018

Area of Science:

Neurodegenerative disorders
Genetics
Biomarker research

Background:

Huntington's disease (HD) is a fatal inherited neurodegenerative disorder with no current treatments to slow its progression.
Biomarker development is advancing, aiding human clinical trials for therapeutic strategies.
Improving the sensitivity and reliability of existing biomarkers is an ongoing research priority.

Purpose of the Study:

To highlight the critical role of biomarkers in developing effective treatments for Huntington's disease.
To emphasize the need for sensitive and reliable biomarkers for clinical trials.
To identify the potential of state biomarkers for pre-symptomatic intervention.

Main Methods:

Investigating functional biomarkers.
Utilizing neuroimaging techniques.
Analyzing biochemical markers.

Main Results:

Progress has been made in developing biomarkers for Huntington's disease.
Current research aims to enhance the precision of these diagnostic tools.
The goal is to ensure biomarkers reflect meaningful patient benefit.

Conclusions:

Biomarkers are essential for advancing therapeutic strategies for Huntington's disease.
State biomarkers are key for testing interventions in pre-manifest individuals.
Continued investigation of functional, neuroimaging, and biochemical biomarkers will drive the development of disease-modifying treatments.