Background: Postural deficits in Huntington's disease are linked to functional impairment. We investigated whether assessment of center-of-mass variability using posturography provides objective and quantitative measures that correlate to the severity of motor phenotype, functional measures, and genotype as assessed by a disease burden score (based on repeat length and age). In addition, we investigated whether withdrawing visual feedback facilitates the detection of postural deficits.
Methods: Using a force plate, the ability of symptomatic Huntington's disease patients (n = 34) and controls (n = 20) to stand as stably as possible was assessed in eyes-open and eyes-closed conditions.
Results: All posturographic measures (DISTANCE, VELOCITY, and SURFACE of centre-of-mass mobility) were increased in patients and correlated to (1) the UHDRS Total Motor Score, (2) the UHDRS Total Functional Capacity, (3) the UHDRS Functional Assessment Score, and (4) the disease burden score. Correlations to motor and functional measures were stronger when visual feedback was provided.
Conclusions: Posturography may provide useful objective and quantitative measures of postural motor dysfunction in Huntington's disease.
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http://dx.doi.org/10.1002/mds.24908 | DOI Listing |
Alzheimers Dement
January 2025
UK Dementia Research Institute at the University of Edinburgh, Edinburgh, UK.
Introduction: Cerebrovascular dysfunction plays a critical role in the pathogenesis of dementia and related neurodegenerative disorders. Recent omics-driven research has revealed associations between vascular abnormalities and transcriptomic alterations in brain vascular cells, particularly endothelial cells (ECs) and pericytes (PCs). However, the impact of these molecular changes on dementia remains unclear.
View Article and Find Full Text PDFExp Neurobiol
December 2024
Dementia Brain Bank, Seoul National University Hospital, Seoul 03080, Korea.
This paper introduces the current status of Seoul National University Hospital Dementia Brain Bank (SNUH-DBB), focusing on the concordance rate between clinical diagnoses and postmortem neuropathological diagnoses. We detail SNUH-DBB operations, including protocols for specimen handling, induced pluripotent stem cells (iPSC) and cerebral organoids establishment from postmortem dural fibroblasts, and adult neural progenitor cell cultures. We assessed clinical-neuropathological diagnostic concordance rate.
View Article and Find Full Text PDFMol Neurodegener
January 2025
Guangdong Key Laboratory of Non-Human Primate Research, Key Laboratory of CNS Regeneration (Ministry of Education), School of Medicine, GHM Institute of CNS Regeneration, Jinan University, Guangzhou, 510632, China.
Background: HD is a devastating neurodegenerative disorder caused by the expansion of CAG repeats in the HTT. Silencing the expression of mutated proteins is a therapeutic direction to rescue HD patients, and recent advances in gene editing technology such as CRISPR/CasRx have opened up new avenues for therapeutic intervention.
Methods: The CRISPR/CasRx system was employed to target human HTT exon 1, resulting in an efficient knockdown of HTT mRNA.
Ageing Res Rev
January 2025
State Key Laboratory of Green Pesticide, Key Laboratory of Green Pesticide and Agricultural Bioengineering, Ministry of Education, Center for R&D of Fine Chemicals of Guizhou University, Guiyang 550025, PR China. Electronic address:
Neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, and Huntington disease, pose serious threats to human health, leading to substantial economic burdens on society and families. Despite extensive research, the underlying mechanisms driving these diseases remain incompletely understood, impeding effective diagnosis and treatment. In recent years, growing evidence has highlighted the crucial role of oxidative stress in the pathogenesis of various neurodegenerative diseases.
View Article and Find Full Text PDFNeurology
January 2025
APHP- Salpêtrière Hospital, DMU BioGem, CNRS, INSERM, Paris Brain Institute, Sorbonne University.
Background And Objectives: Brain energy deficiency occurs at the early stage of Huntington disease (HD). Triheptanoin, a drug that targets the Krebs cycle, can restore a normal brain energetic profile in patients with HD. In this study, we aimed at assessing its efficacy on clinical and neuroimaging structural measures in HD.
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