Publications by authors named "S R Bot"
Background And Objectives: The total functioning capacity (TFC) assessment has been integral to Huntington's disease (HD) research and clinical trials, measuring disease stage and progression. This study investigates the natural progression of function in HD, focusing on changes in TFC scores related to age and CAG-repeat length, and evaluates TFC's strengths and weaknesses in longitudinal studies.
Methods: Using Enroll-HD platform's clinical dataset version 5, including Registry-3, we analysed data from 21,079 participants, with 16,083 having an expanded CAG repeat.
Background: Proper medication reconciliation (= comparing the accuracy of patient-reported medication use with pharmacy records) could prevent potentially dangerous situations such as drug-drug interactions and hospitalization. This is particularly important when patients rely on multiple medications, such as in neurodegenerative disorders like Huntington's Disease (HD). Currently, it is unknown how often medication discrepancies occur in HD patients and which factors contribute to the discrepancies.
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- Understanding quality of life (QoL) is crucial for diseases like Huntington's disease (HD), yet few studies focus on how gene expansion carriers (HDGECs) perceive their own QoL.
- This qualitative study interviewed 12 HDGECs (6 premanifest and 6 manifest) in the Netherlands to explore their definitions of QoL, revealing distinct themes for each group.
- Results showed that premanifest HDGECs focused on meaningful life concerns while manifest HDGECs dealt with adapting to reality, emphasizing the need for personalized care strategies that acknowledge the shifting perspectives of HDGECs.
Article Synopsis
- Huntington's Disease (HD) requires careful medication management, with limited information on real-world medication use across different stages of the disease.
- Data from the ENROLL-HD study shows that medication use increases significantly as HD progresses, with 84.6% of patients using medications, particularly antipsychotics, SSRIs, and painkillers.
- Differences in medication use were noted based on sex and regional factors, and unique patterns emerged in childhood-onset HD, highlighting the need for personalized treatment approaches in managing the disease.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with a fatal outcome. There is accumulating evidence of a prominent role of glia in the pathology of HD, and we investigated this by conducting single nuclear RNA sequencing (snRNAseq) of human post mortem brain in four differentially affected regions; caudate nucleus, frontal cortex, hippocampus and cerebellum. Across 127,205 nuclei from donors with HD and age/sex matched controls, we found heterogeneity of glia which is altered in HD.
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