Chronister R, Dyken P, Fields P A, Maertens P
Department of Structural and Cellular Biology, University of South Alabama, Mobile, USA.
Am J Med Genet. 1995 Jun 5;57(2):191-5. doi: 10.1002/ajmg.1320570217.
One of the characteristic manifestations of chronic neuronal lipofuscinosis (Batten disease) is a marked predisposition for epileptic seizures. The management of these seizures is very difficult. The present study was initiated to determine what mechanisms could account for the seizure disorder. Tissue was examined from a patient with a history of Batten disease that was histologically verified. Reduced silver and Golgi impregnations were done on the parietal cortex of the patient. There was no evidence of the marked dendritic abnormalities seen in classic epileptic foci. Instead there was marked swelling and dilatation of the axon hillock and initial segment. This finding suggested that inhibition of these pyramidal neurons was markedly attenuated due to disruption of initial segment inhibitory synapses. Studies are continuing to determine if the GABA decreases seen in Batten disease may in part be due to trophic sequences brought about by loss of these critical inhibitory synapses.
慢性神经元脂褐质沉积症（巴滕病）的特征性表现之一是癫痫发作的显著易感性。这些癫痫发作的治疗非常困难。开展本研究是为了确定哪些机制可能导致癫痫障碍。对一名有巴滕病病史且经组织学证实的患者的组织进行了检查。对该患者的顶叶皮质进行了还原银染色和高尔基染色。没有证据表明在典型癫痫病灶中可见的明显树突异常。相反，轴丘和起始节段有明显肿胀和扩张。这一发现表明，由于起始节段抑制性突触的破坏，这些锥体神经元的抑制作用明显减弱。研究仍在继续，以确定巴滕病中所见的γ-氨基丁酸减少是否部分归因于这些关键抑制性突触丧失所引发的营养序列。
