The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene in 440 Huntington's disease patients and 360 normal controls reveals a range of 30-70 repeats in affected individuals and 9-34 in normals. We find significant negative correlations between the number of repeats on the HD chromosome and age at onset, regardless of sex of the transmitting parent, and between the number of repeats on the normal paternal allele and age at onset in individuals with maternally transmitted disease. This effect of the normal paternal allele may account for the weaker age at onset correlation between affected sib pairs with disease of maternal as opposed to paternal origin and suggests that normal gene function varies because of the size of the repeat in the normal range and a sex-specific modifying effect.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/ng0893-393 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
An examination of criminal offenders with dementia in Australian courts.
Psychiatr Psychol Law
January 2024
School of Psychology, Faculty of Science, University of New South Wales, Sydney, Australia.
This study aims to characterize people with dementia who were charged with criminal offences between 1995 and 2020 and describe their offending. Court cases were derived from Australian legal databases and descriptive data were manually extracted from case reports. Of 62 people variously charged with homicide, assault, child sexual assault, breach of conditions, property and larceny offences, driving offences, perverting the course of justice and arson, 46 were identified as having executive dysfunction, either as stated by medical expert witnesses or implicitly, due to conditions like Huntington's disease and frontotemporal dementia.
View Article and Find Full Text PDFPredictive testing for Huntington's disease in a digital age; patient power with potential pitfalls.
Eur J Hum Genet
January 2025
City St. George's University, School of Health & Medical Sciences, London, UK.
Development and testing the psychometric properties of 20 bolt-on items for the EQ-5D-5L across 31 rare diseases.
Value Health
January 2025
Department of Cardiology and State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Objective: Our objective was to develop and assess the psychometric properties of relevant bolt-on items for the EQ-5D-5L in patients with rare diseases (RDs).
Methods: Nineteen new EQ-5D-5L bolt-ons were developed based on literature review, expert input and qualitative interviews and focus groups with patients, caregivers and representatives of patient associations. A nationwide, cross-sectional, web-based survey in China included patients or caregivers of patients with 31 RDs in China (n=9,190).
Common alterations to astrocytes across neurodegenerative disorders.
Curr Opin Neurobiol
January 2025
Salk Institute for Biological Studies, Molecular Neurobiology Laboratory, 10010 North Torrey Pines Rd, La Jolla, CA, 92037, USA. Electronic address:
Astrocytes perform multiple functions in the nervous system, many of which are altered in neurodegenerative disorders. In this review, we explore shared astrocytic alterations across neurodegenerative disorders, including Alzheimer's disease, Huntington's disease, Parkinson's disease, amyotrophic lateral sclerosis, and frontotemporal lobe degeneration. Assessing recent datasets of single-nucleus RNA-sequencing of human brains, a theme emerges of common alterations in astrocyte state across disorders including in neuroinflammation, synaptic organization, metabolic support, and the cellular stress response.
View Article and Find Full Text PDFModeling and correction of protein conformational disease in iPSC-derived neurons through personalized base editing.
Mol Ther Nucleic Acids
March 2025
NYU Cardiovascular Research Center, NYU Grossman School of Medicine, New York, NY 100016, USA.
Altered protein conformation can cause incurable neurodegenerative disorders. Mutations in , the gene encoding neuroserpin, can alter protein conformation resulting in cytotoxic aggregation leading to neuronal death. Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare autosomal dominant progressive myoclonic epilepsy that progresses to dementia and premature death.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!