Huntington’s Disease: An Overview of Biomarkers in Prognostic, Diagnostic, and Therapeutic Management

Huntington's disease (HD) is a progressive neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and psychiatric disturbances. It is caused by the abnormal expansion of cytosine-adenine-guanine triplet repeats in the HTT gene, leading to the production of mutant huntingtin (mHTT) protein. This protein contributes to neuronal dysfunction and cell death, particularly in the striatum and cortex. The review examines recent research focused on identifying and assessing potential biomarkers of HD, emphasizing the use of peripheral fluids and tissues as sources of biomaterials. Among the reviewed biomarkers, neurofilament light chain and mHTT emerge as robust indicators of disease progression, while combined biofluid and imaging biomarkers show promise for improving prognostic accuracy. These biomarkers offer insights into key pathological features of HD, such as oxidative damage, mitochondrial impairments, and persistent inflammatory responses. The incorporation of diverse biomarkers, including those from peripheral fluids and tissues, holds great promise for improving the diagnosis and management of HD. A well-defined and validated biomarker panel could significantly enhance clinical outcomes by facilitating early detection, monitoring disease progression, and evaluating therapeutic efficacy. Ultimately, this progress could accelerate drug development and lead to more effective treatment strategies for HD.