ArticleJournal of neurology2014
Progressive myoclonus epilepsy in Down syndrome patients with dementia.
Article in Journal of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Neurologic complications of Down syndrome: a systematic review.Journal of neurology · 2021Pooled it
- Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11-year longitudinal study and proposed diagnostic red flags.Epilepsia open · 2026Article
- Factors impacting survival in individuals with Down syndrome-associated Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes.Epilepsia open · 2025Review
- Navigating the diagnostic challenges of myoclonus in neurodegenerative disorders: video-EEG/polygraphy, clinical vignettes, and narrative analysis.Frontiers in neurology · 2025Article
- Myoclonus: Differential diagnosis and current management.Epilepsia open · 2024Review
- The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.Neurobiology of disease · 2023Review
- Epilepsy in Down Syndrome: A Highly Prevalent Comorbidity.Journal of clinical medicine · 2021Review
- Dementia in Down syndrome: unique insights for Alzheimer disease research.Nature reviews. Neurology · 2019Review
- Down syndrome associated moyamoya may worsen epilepsy control and can benefit from surgical revascularization.Epilepsy & behavior case reports · 2019Article
- Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models.International journal of molecular sciences · 2018Review
- Neuroimaging and other modalities to assess Alzheimer's disease in Down syndrome.NeuroImage. Clinical · 2018Review
- Article
- A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.Nature reviews. Neuroscience · 2015Review
- Autism spectrum disorder and epilepsy: Disorders with a shared biology.Epilepsy & behavior : E&B · 2015Review
- The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21.Case reports in neurologyArticle
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.