Pathogenesis of brain dysfunction in Batten disease.
Pathogenesis of brain dysfunction in Batten disease.
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Batten 病脑功能障碍的发病机制。
DOI：
10.1002/ajmg.1320570218
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
Jolly,RD
中科院分区：
文献类型：
--
作者：
Walkley,SU;March,PA;Schroeder,CE;Wurzelmann,S;Jolly,RD
巴顿病和其他神经元储存障碍的动物模型为研究该家族疾病中脑功能障碍的发病机制提供了重要的机会。尽管所有这些病症都表现出进行性神经元内储存，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陷引起的储存障碍明显不同。同样，巴顿病的一个显着特征——大脑皮层和其他特定大脑区域的萎缩，在大多数其他储存障碍中不会发生。我们的研究表明，Batten 病与人类神经退行性疾病有共同点，神经元死亡可能是由线粒体功能欠佳和 GABA 能（抑制性）细胞损失的综合作用继发的兴奋性毒性引起的。 © 1995 Wiley-Liss, Inc.
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, atrophy 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. © 1995 Wiley‐Liss, Inc.