Walkley S U, March P A, Schroeder C E, Wurzelmann S, Jolly R D
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.
Am J Med Genet. 1995 Jun 5;57(2):196-203. doi: 10.1002/ajmg.1320570218.
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.
巴顿病及其他神经元贮积症的动物模型为研究这类疾病中脑功能障碍的发病机制提供了重要契机。尽管所有这些病症都表现出进行性的神经元内贮积，但我们发现，巴顿病细胞病理学的其他方面与溶酶体水解酶缺乏所致的贮积症明显不同。同样，大脑皮质和其他特定脑区的溶酶体改变是巴顿病的一个显著特征，在大多数其他贮积症中并不出现。我们的研究表明，巴顿病与人类神经退行性疾病有共同的表现，神经元死亡可能是由线粒体功能欠佳和GABA能（抑制性）细胞丢失的联合作用继发的兴奋性毒性所致。
