A Decade of Discovery of Huntington's Disease Biomarkers: A Comprehensive Review of its Established and Emerging Bi-omarkers

Abstract

Neurodegenerative disorders (NDs) lead to progressive neuronal loss in various brain regions and are a significant public health concern, with NDs expected to become the second-leading cause of death globally within the next two decades. Huntington's disease (HD) is a rare progressive ND that severely impacts patients and families due to its severe neuronal effects. HD is caused by an autosomal dominant mutation in the huntingtin (HTT) gene, which leads to progressive motor, cognitive, and psychiatric symptoms. Given the complex nature of HD, biomarkers are essential for early diagnosis, disease progression monitoring, and evaluation of treatment efficacy. However, the identification of consistent HD biomarkers is challenging due to HD's heterogeneous presentation and its multiple underlying biological pathways. To identify reliable HD biomarkers, integration of research efforts through longitudinal studies that track disease progression, new biomarker exploration to enhance diagnostic accuracy, and collaborative efforts to standardize protocols and ensure reproducibility are warranted. These efforts should also advance personalized treatment approaches and improve the overall management of HD. This study provides a comprehensive review and bibliometric analysis of HD biomarker research over the past decade, revealing key research trends and gaps. The findings could guide future investigations and contribute to improving personalized treatment approaches, clinical management, and informed decision-making in HD.