Publications by authors named "R H S R Roxburgh"
Nerve ultrasound as a screening tool for inherited sensory neuronopathy.
J Peripher Nerv Syst
December 2024
Article Synopsis
- Apathy and impulsivity are common behavioral changes in Huntington's disease (HD), but their co-occurrence and effects on quality of life had not been thoroughly explored until this study.
- The study involved 42 people with HD and 20 healthy controls who completed various assessments for apathy, impulsivity, and other factors, revealing a significant correlation between apathy and impulsivity in HD patients.
- The findings indicate that both apathy and impulsivity negatively affect quality of life in individuals with HD, suggesting that these behaviors may be interconnected and warrant further investigation.
Article Synopsis
- The study analyzed lower limb nerve ultrasound measurements to differentiate between inherited neuronopathy, inherited axonopathy, and acquired axonopathy in patients.
- Researchers compared nerve sizes in 34 healthy controls with three patient groups, finding significant size variations particularly in the tibial and sural nerves.
- Results indicated that inherited conditions (CANVAS and CMT2) had smaller nerve sizes compared to the acquired condition, suggesting ultrasound can help in diagnosing these neurological diseases more effectively.
Article Synopsis
- Apathy is a common and disabling syndrome found in Huntington's disease (HD), but the underlying mechanisms are still not well understood.
- Researchers used a framework of motivated behavior to investigate whether individuals with apathy in HD are more sensitive to the costs of actions (like physical effort and time) compared to their sensitivity to rewards.
- Findings from tasks measuring decision-making indicated that people with HD exhibit a greater sensitivity to physical effort costs and delays, impacting their choices and reinforcing the idea that effort hypersensitivity contributes to apathy in this condition.*
Purpose: To determine the frequency and clinical impact of loss-of-interruption (LOI) and duplication-of-interruption modifier variants of the HTT CAG and CCG repeat in a cohort of individuals with Huntington disease (HD).
Methods: We screened symptomatic HD participants from the UBC HD Biobank and 5 research sites for sequence variants. After variant identification, we examined the clinical impact and frequency in the reduced penetrance range.