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无拉福拉小体的进行性肌阵挛癫痫患者尿中吲哚苷的排泄。丙戊酸钠的作用。

Urinary excretion of indican in progressive myoclonus epilepsy without Lafora bodies. The effect of sodium valproate.

作者信息

Koskiniemi M, Palo J

出版信息

J Neurol Sci. 1978 Dec;39(2-3):235-9. doi: 10.1016/0022-510x(78)90125-9.

DOI:10.1016/0022-510x(78)90125-9
PMID:105091
Abstract

Increased urinary excretion of indican was detected in earlier studies of patients with the form of progressive myoclonus epilepsy (PME) where no Lafora bodies are present in the brain and other tissues. Since then, all PME patients have been given sodium valproate and/or clonazepam. In a series of 10 patients now examined the mean excretion was on the same level as that of other epileptic and non-epileptic neurological patients (53 +/- 27 mg/g creatinine). Alternate reduction of the two drugs in one patient over a period of 24 days increased the excretion up to the high level measured earlier (96 mg/g creatinine) and caused marked worsening of the clinical condition while no remarkable changes were observed in another PME patient who received her normal medication. The highest values ever measured were found in one PME patient just before his death. In two patients who had no medication the excretion was also high but returned to the normal level during medication with sodium valproate. It is unknown at the moment whether this change is due to the improved clinical condition of the patients or to the compound itself.

摘要

在早期对进行性肌阵挛癫痫(PME)患者的研究中检测到尿中吲哚苷排泄增加,这些患者的大脑和其他组织中不存在Lafora小体。从那时起,所有PME患者都接受了丙戊酸钠和/或氯硝西泮治疗。在现在检查的一系列10名患者中,平均排泄量与其他癫痫和非癫痫神经科患者的水平相同(53±27mg/g肌酐)。在一名患者中,在24天的时间内交替减少这两种药物,排泄量增加到先前测量的高水平(96mg/g肌酐),并导致临床状况明显恶化,而另一名接受正常药物治疗的PME患者未观察到明显变化。在一名PME患者临死前发现了有史以来测量到的最高值。在两名未用药的患者中,排泄量也很高,但在使用丙戊酸钠治疗期间恢复到正常水平。目前尚不清楚这种变化是由于患者临床状况的改善还是由于药物本身。

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Urinary excretion of indican in progressive myoclonus epilepsy without Lafora bodies. The effect of sodium valproate.无拉福拉小体的进行性肌阵挛癫痫患者尿中吲哚苷的排泄。丙戊酸钠的作用。
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Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.进行性肌阵挛癫痫基因定位于21号染色体q22区。
Proc Natl Acad Sci U S A. 1991 May 1;88(9):3696-9. doi: 10.1073/pnas.88.9.3696.