ArticleActa epileptologica2024
Electroencephalogram and phenotype patterns in neuronopathic Gaucher disease patients - ten years of experience in a single center.
Article in Acta epileptologica, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease.International journal of molecular sciences · 2026Review
- Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease.Frontiers in neuroscience · 2026Article
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9 authors.
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Abstract
backgroundThis study aimed to investigate the unique electroencephalography (EEG) patterns in neuronopathic Gaucher disease (GD) patients and explore the correlations between EEG findings and neurological phenotypes so as to optimize clinical outcomes.
methodsA retrospective analysis was conducted on 74 EEG recordings from 50 GD patients between January 2012 and July 2022.
resultsTwenty-three patients exhibited abnormal EEG recordings, including 11 of the GD1 type (the transitional type) and 12 with neuronopathic GD. Of the 12 neuronopathic GD patients, 9 patients with epilepsy were analysed specifically in terms of the clinical course. The primary waveform observed in the neuronopathic EEG recordings was the spike-and-wave complex (SWC) during both awake and sleep states. This was significantly different from sharp waves observed only during sleep in the patients of the transitional type (P = 0.0230). The abnormal discharges in the neuronopathic patients were most commonly located in the bilateral Rolandic areas, while the transitional type commonly involved the bilateral frontal regions. Three patients with an epileptic EEG pattern reported their initial seizures years later. Seizures in the neuronopathic patients were effectively controlled with anti-seizure medications (ASMs), despite the ongoing presence of abnormal EEG patterns. The EEG patterns during ocular symptoms were characterized by sporadic or continuous unilateral SWC during sleep.
conclusionsPatients with neuronopathic GD exhibit distinct EEG patterns that can help differentiate them from GD1 patients. Early treatment with ASMs can effectively control seizures. EEG plays a crucial role in monitoring seizures and can facilitate prompt intervention for GD patients.
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