Hayashi Masaharu, Nakajima Keisuke, Miyata Rie, Tanuma Naoyuki, Kodama Tohru
Department of Brain Development and Neural Regeneration, Tokyo Metropolitan Institute of Medical Science, Tokyo 156-8506, Japan.
ISRN Neurol. 2012;2012:404263. doi: 10.5402/2012/404263. Epub 2012 Aug 9.
We have examined brainstem lesions in patients with refractory epilepsy disorders, including West syndrome (WS), Lennox-Gastaut syndrome (LGS), and dentatorubral-pallidoluysian atrophy (DRPLA). Acetylcholinergic neurons (AchNs) in the pedunculopontine tegmental nucleus (PPN) are involved in mental development, and disruption of neuronal nicotinic acetylcholine receptors can lead to epilepsy. In order to investigate the involvement of lesions of AchNs in refractory epilepsy, we performed immunohistochemical analyses of AchNs in the PPN in autopsy cases who had a past history of WS and/or LGS and in DRPLA cases who showed progressive myoclonic epilepsy. In addition, we performed a preliminary quantification of the levels of acetylcholine, neuropeptides, and monoamine metabolites in the cerebrospinal fluid (CSF) of patients with WS and benign convulsions associated with mild gastroenteritis (CwG). In the PPN analysis, the total number of neurons and the number of AchNs were reduced in WS/LGS and WS cases, while DRPLA cases showed a decrease in the number and percentage of AchNs. In the CSF analysis, WS patients demonstrated a reduction in the levels of inhibitory neuropeptides, while CwG patients showed increased levels of acetylcholine and decreased levels of serotonin metabolites. These data suggest the possible involvement of lesions of AchNs in WS and DRPLA.
我们检查了难治性癫痫疾病患者的脑干病变，这些疾病包括韦斯特综合征（WS）、伦诺克斯 - 加斯托综合征（LGS）和齿状核红核苍白球路易体萎缩症（DRPLA）。脚桥被盖核（PPN）中的乙酰胆碱能神经元（AchNs）参与智力发育，神经元烟碱型乙酰胆碱受体的破坏可导致癫痫。为了研究AchNs病变在难治性癫痫中的作用，我们对有WS和/或LGS病史的尸检病例以及表现为进行性肌阵挛癫痫的DRPLA病例的PPN中的AchNs进行了免疫组织化学分析。此外，我们对WS患者和与轻度胃肠炎相关的良性惊厥（CwG）患者脑脊液（CSF）中的乙酰胆碱、神经肽和单胺代谢物水平进行了初步定量。在PPN分析中,WS/LGS和WS病例中神经元总数和AchNs数量减少，而DRPLA病例中AchNs数量和百分比下降。在CSF分析中，WS患者的抑制性神经肽水平降低，而CwG患者的乙酰胆碱水平升高，血清素代谢物水平降低。这些数据表明AchNs病变可能与WS和DRPLA有关。
