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Related Experiment Video

Updated: Dec 29, 2025

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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Huntington disease.

Rhia Ghosh1, Sarah J Tabrizi1

  • 1Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.

Handbook of Clinical Neurology
|January 13, 2018
PubMed
Summary
This summary is machine-generated.

Huntington disease is an inherited neurodegenerative disorder with no current disease-modifying treatments. Research is advancing understanding of its mechanisms and exploring new therapies and biomarkers.

Keywords:
Huntington diseasebiomarkerschoreaepidemiologygenetic testinggeneticsmanagementsymptomstherapeutics

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

Last Updated: Dec 29, 2025

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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Huntington disease is a monogenic, autosomal-dominant neurodegenerative disorder.
  • It presents with progressive motor, psychiatric, and cognitive symptoms over 15-20 years.
  • Despite significant discoveries since 1993, no disease-modifying therapies exist.

Purpose of the Study:

  • To provide a comprehensive review of Huntington disease.
  • To cover epidemiology, genetics, pathogenesis, clinical presentation, and management.
  • To highlight recent therapeutic developments and biomarker research.

Main Methods:

  • Literature review and synthesis of current knowledge.
  • Explanation of genetic testing principles.
  • Discussion of ongoing research in therapeutics and biomarkers.

Main Results:

  • Detailed overview of Huntington disease characteristics and progression.
  • Explanation of genetic testing procedures and implications.
  • Summary of current research directions for treatment and monitoring.

Conclusions:

  • Huntington disease remains a significant challenge with no approved disease-modifying treatments.
  • Continued research into pathogenesis, therapeutics, and biomarkers is crucial.
  • Genetic testing plays a key role in diagnosis and management.