Huntington's Disease and Repeating Trinucleotides
Abstract
Huntington's disease is an inherited neurodegenerative disease of midlife onset that produces a characteristic, progressive movement disorder with accompanying psychiatric changes. The symptoms result from the selective loss of neurons, most notably in the caudate nucleus and putamen, and there is currently no effective treatment. In 1983 we identified chromosome 4 as the site of the defect in Huntington's disease, triggering a decade-long search for the disease gene itself1. In early 1993 the search ended with the discovery that the defect causing Huntington's disease is an expanded, unstable stretch of DNA with a repeating pattern of three nucleotide bases, . . .
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By 2000, around 1,000 of the estimated 7,000 single-gene inherited diseases had been characterized, including Huntington's disease and cystic fibrosis.
“by 2000, around 1,000 of the estimated 7,000 single-gene inherited diseases had been characterized, including many with substantial biomedical impact, such as Huntington’s disease and cystic fibrosis7–9.”
From A brief history of human disease genetics (2020) · cites this paper as [9]
Cites
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366 · see citing works
Self-citationA polymorphic DNA marker genetically linked to Huntington's disease
Gusella, J. F., Wexler, N. S., Conneally, P. M., Naylor, S. L., Anderson, M. A., Tanzi, R. E., Watkins, P. C., Ottina, K. A., Wallace, M. R., Sakaguchi, A. Y., et al. (1983) · Nature · doi:10.1038/306234a0 · Cited by 2,340 · see citing works
Self-citationAndrew, S. E., Goldberg, Y. P., Kremer, B. P. H., Telenius, H., Theilmann, J., Adam, S., Starr, E. M., Squitieri, F., Lin, B., Kalchman, M. A., et al. (1993) · Nature Genetics · doi:10.1038/ng0893-398 · Cited by 1,135 · see citing works
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 · see citing works
Self-citationRelationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
Snell, R. G., MacMillan, J., Cheadle, J. P., Fenton, I., Lazarou, L., Davies, P. J., MacDonald, M. E., Gusella, J. F., Harper, P. S., & Shaw, D. J. (1993) · Nature Genetics · doi:10.1038/ng0893-393 · Cited by 710 · see citing works
Self-citationKremer, B., Goldberg, P., Andrew, S. E., Theilmann, J., Telenius, H., Zeisler, J., Squitieri, F., Lin, B., Bassett, A., Almqvist, E., et al. (1994) · New England Journal of Medicine · doi:10.1056/nejm199405193302001 · Cited by 602 · see citing works
Goldberg, Y. P., Kremer, B. P. H., Andrew, S. E., Theilmann, J., Graham, R. K., Squitieri, F., Telenius, H., Adam, S., Sajoo, A., Starr, E. M., et al. (1993) · Nature Genetics · doi:10.1038/ng1093-174 · Cited by 246 · see citing works
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease
Myers, R. H., MacDonald, M. E., Koroshetz, W. J., Duyao, M. P., Ambrose, C. M., Taylor, S. A., Barnes, G., Srinidhi, J., Lin, C. S., Whaley, W. L., et al. (1993) · Nature Genetics · doi:10.1038/ng1093-168 · Cited by 245 · see citing works
Self-citationCharacterization and localization of the Huntington disease gene product
Hoogeveen, A. T., Willemsen, R., Meyer, N., de Rooij, K. E., Roos, R. A. C., van Ommen, G. B., & GALJAARD, H. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.12.2069 · Cited by 205 · see citing works
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A brief history of human disease genetics
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697 · see citing works
DeepRisk: a deep learning approach for genome-wide assessment of common disease risk
Peng, J., Bao, Z., Li, J., Han, R., Wang, Y., Han, L., Peng, J., Wang, T., Hao, J., Wei, Z., et al. (2024) · Fundamental Research · doi:10.1016/j.fmre.2024.02.015 · Cited by 15 · see citing works
- Authors
- Gusella, J. F., & MacDonald, M. E.
- ORCID
- Gusella, James F.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1994-05-19
- Volume
- 330
- Issue
- 20
- Pages
- 1450-1451
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2000286059
- Cited by
- 25
- References
- 9
- Citations by year
- 2024: 2 · 2021: 2 · 2020: 1
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- Huntington's disease, trinucleotide repeat expansion, CAG repeat, chromosome 4, huntingtin gene, neurodegeneration, caudate nucleus, putamen, movement disorders, psychiatric symptoms, genetic basis of disease
- MeSH terms
- Chromosomes, Human, Pair 4, Diagnosis, Differential, DNA, Humans, Huntington Disease, Mutation, Oligodeoxyribonucleotides, Repetitive Sequences, Nucleic Acid
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