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George Huntington (1850-1916) and hereditary chorea
1Veterans Affairs Medical Center, Great Lakes Health Care System, Tomah, Wisconsin, USA.
Journal of the History of the Neurosciences
|March 10, 2001
Summary
George Huntington described hereditary chorea in 1872, now known as Huntington's disease (HD). Genetic research identified an expanded CAG trinucleotide repeat mutation as the cause of this neurodegenerative disorder.
Area of Science:
- Neurology
- Genetics
- Medical History
Background:
- Huntington's disease, a hereditary chorea, was clinically described by George Huntington in 1872.
- George Huntington's detailed observations facilitated early understanding of the disorder's inheritance and clinical presentation.
Discussion:
- The distinct characteristics of Huntington's disease, including its clinical profile, midlife onset, and autosomal dominant inheritance, enabled genetic linkage analysis.
- Genetic linkage analysis a century after Huntington's description led to the identification of the disease's genetic underpinnings.
Key Insights:
- The genetic defect in Huntington's disease is an unstable expanded CAG trinucleotide repeat mutation.
- This mutation occurs in a novel gene located on the short arm of chromosome 4.
Outlook:
- Recent rapid discoveries suggest significant future progress in understanding Huntington's disease.
- Further research holds promise for developing effective treatments for this debilitating neurodegenerative disorder.