Related Experiment Video
Updated: May 14, 2026
07:08
Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
Published on: February 27, 2018
[Huntington's disease].
1Hrvatski institut za istrazivanje mozga, Medicinski fakultet Sveucilista u Zagrebu.
Lijecnicki Vjesnik
|February 14, 2013
Summary
Huntington's disease (HD) is an inherited neurodegenerative disorder caused by CAG triplet repeats. Currently, no cure exists, but dopamine blockers offer symptomatic relief for chorea.
Area of Science:
- Neurodegenerative diseases
- Genetics
- Neurology
Context:
- Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder first described in 1872.
- Prevalence is 8-10 per 100,000 globally and 4.46 per 100,000 in Croatia.
- Onset typically occurs between 30-50 years, with a fatal progression over 15-20 years.
Purpose:
- To provide an overview of Huntington's disease, its genetic basis, and current treatment limitations.
- To highlight the correlation between CAG trinucleotide repeats and disease presentation.
- To discuss the current therapeutic landscape for Huntington's chorea.
Summary:
- HD is characterized by CAG triplet repeats, leading to polyglutamine repeats in the huntingtin protein.
- The number of CAG repeats directly influences the age of symptom onset and clinical severity.
- There is no selective therapy for HD; symptomatic treatment primarily involves dopamine blockers for chorea.
Impact:
- Understanding the genetic basis and progression of HD is crucial for developing targeted therapies.
- Current symptomatic treatments focus on managing neurological deficits like chorea.
- Further research is needed to develop disease-modifying treatments for Huntington's disease.
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