Abstract

Huntington’s disease (HD) is a devastating neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. This autosomal dominant genetic disorder is caused by an expanded CAG repeat in the HTT gene, leading to the production of mutant huntingtin protein. The pathophysiology of HD involves widespread neuronal dysfunction and death, particularly affecting the striatum and cortex. This review provides a comprehensive overview of the clinical manifestations, genetic basis, molecular mechanisms, and current therapeutic approaches for Huntington’s disease. Additionally, it explores the complex interplay of genetic and environmental factors that contribute to the variable onset and progression of symptoms. Emerging research in the field of neurobiology, genetics, and potential therapeutic strategies sheds light on promising avenues for intervention and disease modification. Despite significant progress, challenges remain in understanding the intricacies of HD pathology and developing effective treatments to mitigate its debilitating impact on affected individuals and their families.

Huntington’s disease (HD) is a devastating neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. This hereditary condition is caused by an expansion of CAG repeats in the huntingtin (HTT) gene, leading to the production of a mutant huntingtin protein. This aberrant protein accumulates in neurons, particularly in the basal ganglia, and triggers a cascade of molecular events that ultimately result in neuronal dysfunction and death. The pathophysiology of HD involves disruptions in neurotransmitter systems, mitochondrial dysfunction, and inflammatory processes, contributing to the complex clinical manifestations observed in affected individuals. Currently, there is no cure for HD, and available treatments aim at alleviating symptoms and improving the quality of life for patients and their families. This review explores the molecular and cellular mechanisms underlying Huntington’s disease, highlights current research efforts, and discusses potential therapeutic strategies to address this challenging disorder.