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Evidence of genetic heterogeneity in Huntington's chorea
Journal of Neurology, Neurosurgery, and Psychiatry
|December 1, 1972
Insights
Huntington's chorea may have multiple genetic forms. This study suggests variations in symptoms and age of onset indicate at least two distinct Huntington's chorea alleles in the community.
Area of Science:
- Neurology
- Genetics
- Medical Research
Background:
- Huntington's chorea is a progressive neurodegenerative disorder.
- Previous observations suggested variability in the disease's presentation.
Purpose of the Study:
- To investigate the genetic basis of Huntington's chorea variability.
- To determine if multiple Huntington's chorea alleles exist within the population.
Main Methods:
- Extensive study of Huntington's chorea cases in Queensland.
- Analysis of symptom complex variations between families.
- Examination of age at onset data.
Main Results:
- Significant variation in the Huntington's chorea symptom complex was observed between families.
- Evidence supports the existence of more than one Huntington's chorea allele.
- Age at onset data suggests at least two distinct forms of the disorder.
Conclusions:
- The findings support the hypothesis of multiple Huntington's chorea alleles.
- At least two separate forms of Huntington's chorea may be present in the community.
- Further research into the genetic heterogeneity of Huntington's chorea is warranted.
Abstract:
In an extensive study of Huntington's chorea in Queensland evidence was found to support an old observation that the magnitude of the variation in the symptom complex of the disease between different families is sufficient to suggest that there may be more than one form of Huntington's chorea allele present in the community. Analysis of data concerning age at onset indicates that at least two separate forms of the disorder may exist.