The neuronal ceroid-lipofuscinoses (Batten disease): comparative aspects

The ceroid-lipofuscinoses are a group of inherited neurodegenerative diseases of human beings characterized by the accumulation of a fluorescent lipopigment in neurons and other cells within the body. There is usually atrophy of both brain and retina with preferential loss of particular neurons. Biochemically, the diseases divide into at least two groups, i.e. those that accumulate subunit c of mitochondrial ATP synthase and those that do not. Dolichol pyrophosphate linked oligosaccharides are also present in storage material. As the underlying biochemical anomalies are not known, the various clinicopathological entities are classified on clinical grounds, by age of onset and, to a lesser extent, by the course of the disease. The best recognized diseases are infantile, late infantile, early juvenile, juvenile and adult onset forms but other variants occur indicating considerable heterogeneity within the group. The infantile, late infantile and juvenile diseases are not allelic. Analogous diseases occur in a variety of animal species. That in the sheep has been extensively studied as a model of the human disease and is the prototype subunit c storage disease.