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Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease

Gaucher disease (GD) is a lysosomal storage disorder caused by biallelic GBA1 variants. Epilepsy is uncommon in GD and rarely manifests as progressive myoclonus epilepsy (PME), making early recognition difficult. We describe a 20-year-old man with childhood-onset myoclonus that progressed to drug-re...

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Principais autores: Zhou Fang, Xixi Sun, Ying Hu, Chengjuan Xie, Xingui Chen, Yubao Jiang
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2026-01-01
Serier:Frontiers in Neuroscience
Fag:
case report
drug-resistant epilepsy
GBA1 variant
neuronopathic Gaucher disease
progressive myoclonus epilepsy
Online adgang:https://www.frontiersin.org/articles/10.3389/fnins.2026.1742318/full
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