Related Experiment Video
Updated: Apr 13, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
Published on: February 27, 2018
[Huntington's disease]
1Institut für neurorehabilitative Forschung (InFo) der BDH-Klinik Hessisch Oldendorf gGmbH, Assoziiertes Institut der Medizinischen Hochschule Hannover (MHH), Greitstr. 18-28, 31840, Hessisch Oldendorf, Deutschland, prof.rollnik@bdh-klinik-hessisch-oldendorf.de.
Insights
Huntington's disease (HD) is a progressive neurodegenerative disorder. While no cure exists, gene silencing offers a promising avenue for future Huntington's disease therapies.
Area of Science:
- Neurology
- Genetics
- Neurodegeneration
Context:
- Huntington's disease (HD) affects approximately 8000 individuals in Germany.
- HD is a progressive neurodegenerative disorder with hyperkinetic, psychiatric, and cognitive symptoms.
Purpose:
- Review the clinical course, epidemiology, genetics, pathophysiology, and treatment of HD.
- Analyze current and potential therapeutic strategies for HD.
Summary:
- Diagnostic certainty for HD is achieved through genetic testing, with CAG repeat length impacting disease progression.
- The precise mechanism of mutant huntingtin protein (mHTT) toxicity in HD is complex, leading to neuronal cell death.
- Clinical trials have investigated various agents, including antioxidants and receptor modulators, with limited success.
Impact:
- Currently, no disease-modifying therapies exist for Huntington's disease.
- Gene silencing techniques, such as RNA interference, represent a promising future direction for effective HD treatment.
Background:
Huntington's disease (HD) is a progressive neurodegenerative disorder characterized by hyperkinetic movements, psychiatric (e.g. depression and psychosis) and cognitive symptoms (frontal lobe dementia). In Germany approximately 8000 patients suffer from HD.
Objectives:
The paper reviews the clinical course, epidemiology, genetics, differential diagnoses, pathophysiology, symptomatics and causal treatment options.
Methods:
Publications on animal and human HD studies and trials and reviews available in Medline have been taken into account.
Results:
Only genetic testing allows diagnostic certainty. The CAG repeat length influences age of onset, disease course and life expectancy. The mechanism by which mutant huntingtin protein (mHTT) causes HD is complex and poorly understood but leads to cell death, in particular in striatal neurons. In clinical trials antioxidants (e.g. coenzyme Q10), selisistat, PBT2, cysteamine, N-methyl-D-aspartate (NMDA)-receptor antagonists and tyrosine kinase B receptor agonists have been studied in HD.
Conclusion:
No disease-modifying therapy is currently available for HD; however, gene silencing, e.g. through RNA interference, is a promising technique which could lead to effective therapies in due course.
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Published on: December 10, 2021
09:06Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
Published on: June 9, 2018
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