Progressive myoclonus epilepsy in Down syndrome patients with dementia

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• 作者：Giuseppe d’Orsi (1)
  Luigi M. Specchio (1)
  
• 关键词：Down syndrome ; Video ; EEG/polygraphy ; Senile myoclonic epilepsy ; Alzheimer’s disease ; Progressive myoclonus epilepsy ; APOE ; CSF biomarkers ; PSEN 1 gene ; PSEN2 gene ; APP gene
• 刊名：Journal of Neurology
• 出版年：2014
• 出版时间：August 2014
• 年：2014
• 卷：261
• 期：8
• 页码：1584-1597
• 全文大小：2,341 KB
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• 作者单位：Giuseppe d’Orsi (1)
  Luigi M. Specchio (1)
  
  1. Department of Neurological Sciences, Epilepsy Centre, Clinic of Nervous System Diseases, Ospedali Riuniti Foggia, University of Foggia, Via Luigi Pinto 1, 71100, Foggia, Italy
  
• ISSN：1432-1459

文摘

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 Aβ42, 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 ε3/ε3 homozygosity. CSF biomarkers showed a decrease in Aβ42 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.