Neuronal ceroid-lipofuscinoses

The neuronal ceroid-lipofuscinoses (NCLs) are a group of inherited diseases characterized by deterioration of intellectual and motor abilities, seizures, vision loss, and decreased life expectancy. They involve defects in a variety of enzymes responsible for breaking down or moving substances, called lipofuscins, within cells. Symptoms associated with the NCLs are due to a toxic build-up of lipofuscins in the cells and tissues of the body, particularly in the brain. Some of the more common names for forms of this disease include Batten disease, Santavuori-Haltia disease, and Jansky-Bielschowsky disease. View testing options