The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Trinucleotide repeat length and progression of illness in Huntington's disease.
Open accessAbstract
The genetic defect causing Huntington's disease (HD) has been identified as an unstable expansion of a trinucleotide (CAG) repeat sequence within the coding region of the IT15 gene on chromosome 4. In 50 patients with manifest HD who were evaluated prospectively and uniformly, we examined the relationship between the extent of the DNA expansion and the rate of illness progression. Although the length of CAG repeats showed a strong inverse correlation with the age at onset of HD, there was no such relationship between the number of CAG repeats and the rate of clinical decline. These findings suggest that the CAG repeat length may influence or trigger the onset of HD, but other genetic, neurobiological, or environmental factors contribute to the progression of illness and the underlying pace of neuronal degeneration.
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Cites
Trinucleotide repeat length instability and age of onset in Huntington's disease
Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., et al. (1993) · Nature Genetics · doi:10.1038/ng0893-387 · Cited by 1,089
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Politis, M., Pavese, N., Tai, Y. F., Kiferle, L., Mason, S. L., Brooks, D. J., Tabrizi, S. J., Barker, R. A., & Piccini, P. (2011) · Human Brain Mapping · doi:10.1002/hbm.21008 · Cited by 212
Metadata
- Authors
- Kieburtz, K., MacDonald, M., Shih, C., Feigin, A., Steinberg, K., Bordwell, K., Zimmerman, C., Srinidhi, J., Sotack, J., & Gusella, J.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1994-11
- Volume
- 31
- Issue
- 11
- Pages
- 872-874
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2038243267
- Cited by
- 168
- References
- 1
- FWCI
- 3.12
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Trinucleotide repeat length and progression of illness in Huntington's disease. https://app.cochat.ai/papers/10.1136/jmg.31.11.872
- The paper
- Kieburtz, K., MacDonald, M., Shih, C., Feigin, A., Steinberg, K., Bordwell, K., Zimmerman, C., Srinidhi, J., Sotack, J., & Gusella, J. (1994). Trinucleotide repeat length and progression of illness in Huntington's disease. Journal of Medical Genetics. https://doi.org/10.1136/jmg.31.11.872
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
