A CLINICAL PERSPECTIVE REVIEW ON HUNTINGTON’S DISEASE

A huntingtin gene CAG expansion on chromosome 4 is the source of the severe genetic disorder known as Huntington's disease (HD). This leads to an overly lengthy polyglutamine tract, which is detrimental. While the wild-type huntingtin protein performs vital functions, the mutant form has a number of negative side effects. The etiology of HD involves disruptions in various cellular processes, including autophagy, reduced mitochondrial activity, lysosomal dysfunction, and others. Proper protein folding is hampered by the elongation, which promotes greater HTT protein aggregation and accumulation. HD usually appears in people between the ages of 30 and 50, while longer CAG repeats can cause the start to happen earlier. Dystonia and akinesia arise as a result of the loss of substance-P containing medium spiny neurons in the direct pathway. Epilepsy frequently causes seizures. CAG repetitions typically have lengths greater than 53. The two most widely used are the Coulson and Fahn functional capacity measure and the Unified Huntington Disease Rating measure (UHDRS). Among the pharmacological treatments available are selective serotonin reuptake inhibitors, such venlafaxine and mirtazapine, which have both noradrenergic and serotonergic effects. Psychoactive medications have the potential to reduce violence and psychosis. Promising research is being done on potential disease-modifying therapies, such as ways to increase clearance and decrease mutant huntingtin levels. Ongoing clinical research offers hope for future medicines to HD patients and their families.