Using electromagnetic stimulation of motor cortex and cervical or lumbar roots, central conduction times to the thenar and abductor hallucis muscles bilaterally were determined in a population of 32 patients with definite Huntington's disease (HD) and 14 subjects at risk. The HD patients showed a wide variety of different severity of choreatic movements, disease duration, and total disability. None of the stimulation parameters (latency after cortical stimulation, amplitude, threshold, or central conduction time) revealed statistically significant abnormalities compared with a normal control group as well as between patient subgroups. The data indicate that central motor conduction to upper and lower extremity muscles remains normal in Huntington's disease irrespective of the severity of the disorder.
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http://dx.doi.org/10.1002/mds.870050305 | DOI Listing |
J Am Chem Soc
January 2025
Hangzhou Institute of Medicine, Chinese Academy of Sciences, Hangzhou, Zhejiang 310022, China.
Biomolecular condensation lays the foundation of forming biologically important membraneless organelles, but abnormal condensation processes are often associated with human diseases. Ribonucleic acid (RNA) plays a critical role in the formation of biomolecular condensates by mediating the phase transition through its interactions with proteins and other RNAs. However, the physicochemical principles governing RNA phase transitions, especially for short RNAs, remain inadequately understood.
View Article and Find Full Text PDFAlzheimers 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.
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