Publications by authors named "D R Langbehn"
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
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- Huntington disease (HD) is caused by a mutation in the huntingtin gene leading to increased levels of a toxic protein (mHTT), and potential treatments focus on reducing this protein.
- Current methods for measuring mHTT in cerebrospinal fluid may not accurately quantify it due to the complexity of protein species present and limitations of using a single protein standard for comparison.
- The study suggests that rather than trying to report absolute concentrations of mHTT, it is more reliable to use relative measurements based on assay signal intensity to better reflect mHTT levels in patients.
Article Synopsis
- Repeat expansion disorders (REDs) are mostly neurological diseases affecting about 1 in 3,000 people worldwide, but true prevalence may be underestimated due to varied symptoms and geographic factors.
- Analysis of genetic data from over 82,000 individuals indicates that the actual frequency of REDs is about 1 in 283, suggesting many cases go undiagnosed.
- Most REDs are found across diverse populations, countering the idea that some are limited to specific ethnic groups, which has important implications for health care and genetic counseling.
Objective: Huntington's disease (HD) is a neurodegenerative disease caused by a triplet repeat expansion within the gene huntingtin (HTT). Antagonistic pleiotropy is a theory of aging that posits that some genes, facilitating individual fitness early in life through adaptive evolutionary changes, also augment detrimental aging-related processes. Antagonistic pleiotropy theory may explain a positive evolutionary pressure toward functionally advantageous brain development that is vulnerable to rapid degeneration.
View Article and Find Full Text PDFXeroderma pigmentosum (XP) results from biallelic mutations in any of eight genes involved in DNA repair systems, thus defining eight different genotypes (XPA, XPB, XPC, XPD, XPE, XPF, XPG and XP variant or XPV). In addition to cutaneous and ophthalmological features, some patients present with XP neurological disease. It is unknown whether the different neurological signs and their progression differ among groups.
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