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首页> 外文期刊>Journal of neurology >Progressive myoclonus epilepsy in Down syndrome patients with dementia
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Progressive myoclonus epilepsy in Down syndrome patients with dementia

机译：唐氏综合征痴呆患者进行性肌阵挛性癫痫

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This study aimed to elucidate the natural history of senile myoclonic epilepsy, a type of myoclonic epilepsy associated with Alzheimer's disease in adult Down syndrome patients. Twelve Down syndrome patients over the age of 40 years with myoclonic epilepsy and Alzheimer's disease underwent clinical, neuropsychological, neurophysiological, and neuroradiological study. The kariotypes, APOE polymorphisms, all exons in the PSEN1 and PSEN2 genes, and exons 16 and 17 in the APP gene were determined for all patients. CSF A?2, p-tau181, and t-tauAg were determined for two patients. Three main stages appeared during the course of the syndrome. The first stage was characterized by dementia onset (mean age: 51 ?6.6 years), diffuse EEG abnormalities during sleep, and cerebral atrophy determined using neuroimaging. During the second stage, myoclonic epilepsy manifested (mean age: 51.4 ?7.2 years) with myoclonic jerks time-locked to diffuse epileptiform abnormalities upon awakening, which was controlled with antiepileptic drugs. During the third stage (mean age: 54.8 ?7.6 years), myoclonic seizures were replaced with nonepileptic myoclonus, and cerebellar signs, severe dementia, and photosensitivity developed. All patients showed complete trisomy 21. Mutations were ruled out on the APP, PSEN1, and PSEN2 genes, and APOE analysis revealed ?/? homozygosity. CSF biomarkers showed a decrease in A?2 and an increase in p-tau181. The natural history of senile myoclonic epilepsy is consistent with progressive myoclonus epilepsy. Chromosome 21 is implicated in its pathophysiology; however, other genetic and/or environmental risk factors cannot be excluded. The absence of the APOE type 4 allele could predict its progression.
机译：这项研究旨在阐明老年唐氏综合症患者中老年性肌阵挛性癫痫的自然病史，这是一种与阿尔茨海默氏病相关的肌阵挛性癫痫。 12名40岁以上患有肌阵挛性癫痫和阿尔茨海默氏病的唐氏综合症患者接受了临床，神经心理学，神经生理学和神经放射学研究。确定了所有患者的kariotype，APOE多态性，PSEN1和PSEN2基因中的所有外显子以及APP基因中的外显子16和17。确定了两名患者的CSFAβ2，p-tau181和t-tauAg。在综合征过程中出现了三个主要阶段。第一阶段的特征是痴呆发作（平均年龄：51〜6.6岁），睡眠期间弥漫性脑电图异常以及使用神经影像学检查确定的脑萎缩。在第二阶段，表现为肌阵挛性癫痫（平均年龄：51.4〜7.2岁），肌阵挛性癫痫发作被锁住，以在唤醒后弥散性癫痫样异常，这是由抗癫痫药控制的。在第三阶段（平均年龄：54.8〜7.6岁），肌阵挛性癫痫发作被非癫痫性肌阵挛取代，并出现了小脑体征，严重的痴呆和光敏性。所有患者均显示完全三体性21。排除了APP，PSEN1和PSEN2基因的突变，APOE分析显示△/△。纯合性。脑脊液生物标志物显示Aβ2减少而p-tau181增加。老年性肌阵挛性癫痫的自然病史与进行性肌阵挛性癫痫一致。 21号染色体与其病理生理有关。但是，不能排除其他遗传和/或环境风险因素。缺少APOE 4型等位基因可以预测其进展。

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