31st Clinical Neuroscience and Neurogenetics Conference: Mobilizing Neurons to Rehabilitate
Neuro Spinal Hospital (UAE)
Title: Hepatolenticular Degeneration
Biography: Vittorio Iantorno
Some Movement Disorders represent a challenging condition for Neurologists to diagnose and treat. The basal ganglia were originally thought to be associated purely with motor control. However, dysfunction and pathology of different regions and circuits are now known to give rise to many clinical manifestations beyond the association of basal ganglia dysfunction with movement disorders. Hepatolenticular Degeneration has for a long time been of particular interest to the Neurologists. It exemplifies a specific metabolic disorder involving some special relation between hepatic cirrhosis and degeneration of the brain. The disease is a microcosm of the history of neurology, beginning with seminal clinical observations followed by pioneering work translating a specific deficiency in sheep to human treatment, and continuing on to identification of causative gene mutations. For nearly half a century the cause of the disease remained unclear and patients continued to die without definitive treatment. Things changed rapidly once the clear pathogenesis was demonstrated. Recognition of the disorder is important because effective treatment can prevent or improve disease features.