ArticleJournal of medical genetics1993
Age at onset in Huntington's disease and methylation at D4S95.
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Neurodegenerative movement disorders: An epigenetics perspective and promise for the future.Neuropathology and applied neurobiology · 2021Review
- DNA Methylation Profiles in Whole Blood of Huntington's Disease Patients.Frontiers in neurology · 2018Article
- Detection of Modified Forms of Cytosine Using Sensitive Immunohistochemistry.Journal of visualized experiments : JoVE · 2016Article
- DNA methylation, a hand behind neurodegenerative diseases.Frontiers in aging neuroscience · 2013Review
- Identification of restriction endonucleases sensitive to 5-cytosine methylation at non-CpG sites, including expanded (CAG)n/(CTG)n repeats.Epigenetics · 2011Article
- Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.Human molecular genetics · 2011Article
- Data-mining analysis suggests an epigenetic pathogenesis for type 2 diabetes.Journal of biomedicine & biotechnology · 2005Article
- Gene expression profiling within the developing neural tube.Neurochemical research · 2002Review
- Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.Journal of neurology, neurosurgery, and psychiatry · 1996Article
- Heritable trinucleotide repeats and neurological disorders.Experientia · 1994Review
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Age at onset in Huntington's disease (HD) is variable and is influenced by parental sex, paternal age, and genetic background. Several recent models have tried to explain this variable expressivity by invoking parental imprinting and related aspects of epigenetic inheritance. Some of these mechanisms may result in variable DNA methylation at or near the HD gene. We show here that methylation at D4S95, a locus tightly linked to the HD gene, is highly variable. A comparison between patients with early onset HD, late onset HD, and normal controls showed no significant correlation between methylation and age at onset. However, we found a significant association of the age of the patient with demethylation at D4S95. Older persons tend to have lower levels of methylation at this locus. This observation is of interest with regard to studies that show an effect of paternal age, or more generally of 'ageing genes', on age at onset in HD.
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