Progressive myoclonus epilepsy in Down syndrome patients with dementia
| Autor: | D'Orsi, G., Specchio, L. M., Apulian Study Group on Senile Myoclonic Epilepsy: d'Orsi, G, Specchio, Lm, Carapelle, E, Di Claudio MT, Lopopolo, A, Pacillo, F, Pascarella, Mg, Trivisano, M, Falcone, M, Grilli, FIORENZA GERMANA, Salatto, P, De Stefano, G, Meola, F, Seripa, D, Demaio, V, Minervini, M, Ottaviano, S, Francavilla, T, La Neve, A, Luisi, C. |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male medicine.medical_specialty Down syndrome Pediatrics Neurology PSEN2 gene Myoclonic Jerk Apolipoprotein E4 Video-EEG/polygraphy tau Proteins Progressive myoclonus epilepsy Neuropsychological Tests PSEN 1 gene Progressive Myoclonic Epilepsies medicine Dementia Humans APP gene Psychiatry CSF biomarkers Aged Cerebral atrophy Amyloid beta-Peptides Brain Electroencephalography Alzheimer's disease Middle Aged medicine.disease Myoclonic Epilepsies Progressive Brain Waves Magnetic Resonance Imaging Peptide Fragments APOE Senile myoclonic epilepsy Down Syndrome Female Follow-Up Studies Mutation Myoclonic epilepsy Neurology (clinical) medicine.symptom Psychology Myoclonus |
| Zdroj: | Journal of neurology. 261(8) |
| ISSN: | 1432-1459 |
| Popis: | 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 e3/e3 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. |
| Databáze: | OpenAIRE |
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