The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.
Open accessAbstract
Huntington's disease (HD) has recently been found to be caused by expansion of a trinucleotide (CAG) repeat within the putative coding region of a gene with an unknown function. We report here an analysis of HD mutation and the characteristics of its transmission in 36 HD families. CAG repeats on HD chromosomes were unstable when transmitted from parent to offspring. Instability appeared more frequent and stronger upon transmission from a male than from a female, with a clear tendency towards increased size. We have also found a significant inverse correlation (p = 0.0001) between the age of onset and the CAG repeat length. The observed scatter would, however, not allow an accurate individual prediction of age of onset. Three juvenile onset cases analysed had an HD mutation of paternal origin. In at least two of these cases a large expansion of the HD allele upon paternal transmission may explain the major anticipation observed. Our results suggest that several features of the expansion mutation in HD are similar to those previously observed for mutations of similar size in spinobulbar muscular atrophy and in myotonic dystrophy, and to those observed more recently in spinocerebellar ataxia type 1 and in dentatorubropallidoluysian atrophy, four diseases also caused by expansion of CAG repeats.
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Cites
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Orr, H. T., Chung, M.-Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., & Zoghbi, H. Y. (1993) · Nature Genetics · doi:10.1038/ng0793-221 · Cited by 1,632
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
Cited by
Walker, F. O. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60111-1 · Cited by 2,603
Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.-M., Weber, C., Mandel, J.-L., Cancel, G., Abbas, N., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-285 · Cited by 849
Self-citationLangbehn, D., Brinkman, R., Falush, D., Paulsen, J., Hayden, M., & on behalf of an International Huntington's Disease Collaborative Group (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00241.x · Cited by 817
Bailey, A., Phillips, W., & Rutter, M. (1996) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1996.tb01381.x · Cited by 769
Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic Strategies
Jimenez-Sanchez, M., Licitra, F., Underwood, B. R., & Rubinsztein, D. C. (2017) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a024240 · Cited by 507
Metadata
- Authors
- Trottier, Y., Biancalana, V, & Mandel, J. L.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1994-05
- Volume
- 31
- Issue
- 5
- Pages
- 377-382
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W1993191686
- Cited by
- 203
- References
- 4
- FWCI
- 2.99
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Trottier, Y., Biancalana, V, & Mandel, J. L. (1994). Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. Journal of Medical Genetics. https://doi.org/10.1136/jmg.31.5.377
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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.
