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Trinucleotide repeat length instability and age of onset in Huntington's disease
Abstract
The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37-86 repeat units, whereas normal chromosomes displayed 11-34 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis.
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“While the unaffected population ranges on average 16-20 triplet repeats at this locus, affected patients contain 5 40 CAGs, with the age of symptom onset in general inversely correlating with repeat length (Duyao et al. , 1993; Labbadia and Morimoto, 2013).”
From Microglial depletion prevents extracellular matrix changes and striatal volume reduction in a model of Huntington's disease (2020) · cites this paper as Duyao et al., 1993
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Metadata
- Authors
- Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., Gray, J., Conneally, P., Young, A., Penney, J., Hollingsworth, Z., Shoulson, I., Lazzarini, A., Falek, A., Koroshetz, W., Sax, D., Bird, E., Vonsattel, J., Bonilla, E., Alvir, J., Bickham Conde, J., Cha, J.-H., Dure, L., Gomez, F., Ramos, M., Sanchez-Ramos, J., Snodgrass, S., de Young, M., Wexler, N., Moscowitz, C., Penchaszadeh, G., MacFarlane, H., Anderson, M., Jenkins, B., Srinidhi, J., Barnes, G., Gusella, J., & MacDonald, M.
- Affiliations
- Massachusetts General Hospital (US)
- Boston University (US)
- University of Rome Tor Vergata (IT)
- Johns Hopkins University (US)
- Indiana University (US)
- University of Rochester Medicine (US)
- Rutgers, The State University of New Jersey (US)
- Emory University (US)
- Harvard University (US)
- Universidad del Zulia (VE)
- Long Island Jewish Medical Center (US)
- Kennedy Krieger Institute (US)
- Hospital Virgen del Camino (ES)
- University of Mississippi Medical Center (US)
- Hereditary Disease Foundation (US)
- ORCID
- Venue
- Nature Genetics
- Published
- 1993-08
- Volume
- 4
- Issue
- 4
- Pages
- 387-392
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1994285647
- Cited by
- 1,089
- References
- 35
- Citations by year
- 2026: 17 · 2025: 27 · 2024: 37 · 2023: 23 · 2022: 39 · 2021: 42 · 2020: 36 · 2019: 38 · 2018: 35 · 2017: 42 · 2016: 26 · 2015: 35 · 2014: 31 · 2013: 39 · 2012: 47
- FWCI
- 17.83
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01ns017978-06)
- National Institute of Neurological Disorders and Stroke (NS17978, NS16375, NS 16367)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Huntington's disease, trinucleotide repeat expansion, repeat instability, age of onset, paternal transmission, spermatogenesis, presymptomatic diagnosis, repeat length
- MeSH terms
- Adult, Age Factors, Female, Genetic Carrier Screening, Humans, Huntington Disease, Genetic Linkage, Male, Middle Aged, Pedigree, Repetitive Sequences, Nucleic Acid, Spermatozoa, Linkage Disequilibrium
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