title: Pathogenesis of brain dysfunction in Batten disease.
abstract: Animal models of Batten disease and other neuronal storage disorders offer important opportunities to study the pathogenesis of brain dysfunction in this family of diseases. Although all of these conditions exhibit progressive intraneuronal storage, we have found that other aspects of the cellular pathology of Batten disease differ markedly from those of storage disorders caused by lysosomal hydrolase deficiencies. Likewise, lysosomal of cerebral cortex and other select brain regions, a prominent characteristic of Batten disease, does not occur in most other storage disorders. Our studies indicate that Batten disease has findings in common with human neurodegenerative diseases and that neuron death may be caused by excitotoxicity occurring secondary to the combined effects of suboptimal mitochondrial function and GABAergic (inhibitory) cell loss.
authors.affiliation: Department of Neuroscience, Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
authors.forename: S U
authors.initials: SU
authors.lastname: Walkley
authors.forename: P A
authors.initials: PA
authors.lastname: March
authors.forename: C E
authors.initials: CE
authors.lastname: Schroeder
authors.forename: S
authors.initials: S
authors.lastname: Wurzelmann
authors.forename: R D
authors.initials: RD
authors.lastname: Jolly
mesh_terms: D000818:Animals; D001284:Atrophy; D001921:Brain / Q000473:pathology* / Q000503:physiopathology*; D002540:Cerebral Cortex / Q000473:pathology; D004285:Dogs; D006056:Golgi Apparatus / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D006867:Hydrolases / Q000172:deficiency; D008247:Lysosomes / Q000201:enzymology; D051379:Mice; D008928:Mitochondria / Q000378:metabolism; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D012756:Sheep; D012757:Sheep Diseases; D005680:gamma-Aminobutyric Acid / Q000502:physiology
chemical_list: D005680:gamma-Aminobutyric Acid; D006867:Hydrolases