BATTEN'S DISEASE: UNDERSTANDING THE GENETIC AND MOLECULAR MECHANISMS

Is a group of inherited neurodegenerative disorders also called as neuronal ceroid lipofuscinoses(NCLs) characterized by the accumulation of autofluorescent material in lysosomes,leading to progressive vision loss,cognitive decline,seizures and motor impairment. It is the most common inherited neurological disease in children that can be managed by therapies like enzyme replacement therapy although a cure is still not known. This review paper provides the current understanding of Batten's Disease and its various forms which cause genetic mutations in genes, its etiology,epidemiology, pathophysiology of the disease,clinical presentation,diagnosis and its symptomatic management to slow down the progression of the disease. New emerging experimental and future approaches like gene therapy,stem cell transplants and small molecular drugs are being approached currently.