PATHOGENESIS OF BRAIN-DYSFUNCTION IN BATTEN-DISEASE

Animal models of Batten disease and other neuronal storage disorders o ffer important opportunities to study the pathogenesis of brain dysfun ction in this family of diseases, Although all of these conditions exh ibit progressive intraneuronal storage, we have found that other aspec ts of the cellular pathology of Batten disease differ markedly from th ose of storage disorders caused by lysosomal hydrolase deficiencies, L ikewise, atrophy of cerebral cortex and other select brain regions, a prominent characteristic of Batten disease, does not occur in most oth er storage disorders, Our studies indicate that Batten disease has fin dings in common with human neurodegenerative diseases and that neuron death may be caused by excitotoxicity occurring secondary to the combi ned effects of suboptimal mitochondrial function and GABAergic (inhibi tory) cell loss. (C) 1995 Wiley-Liss, Inc.