[Huntington's disease: a bimolecular vision]

Huntington s disease is a genetic autosomal dominant progressive neurodegenerative disorder determined by mutation at the gene that codes for the protein huntingtin, whose function is unknown. Clinically hallmarked by chorea and behavioral disturbances, the diagnosis is confirmed by blood test for the disease s gene. Experimental models of the disease, and new tools for in vivo and in vitro investigation are contributing for understanding its pathophysiology.

The neurodegeneration is accomplished by apoptosis and predominantly strikes the striatum. Multiple evidence have emerged that oxidative stress, promoted by excess glutamate stimuli and iron deposits in the striatum play an important role, besides mitochondrial oxidative disfunction and reduced blood cerebral perfusion. There is no curative therapy for Huntington s disease. Current treatment usually includes a neuroleptic for chorea and behavioral disturbances, and a serotonin-selective reuptake inhibitor when depression is present. There is a great hope that new knowledge about the pathophysiology of Huntington's disease will engage in a better treatment, but neurotransplantation is an alternative treatment under development.