Lafora Disease: A Case Report and Evolving Treatment Advancements

Lafora Disease: A Case Report and Evolving Treatment Advancements

Lafora disease is a rare genetic disorder characterized by a disruption in glycogen metabolism. It manifests as progressive myoclonus epilepsy and cognitive decline during adolescence. Pathognomonic is the presence of abnormal glycogen aggregates that, over time, produce large inclusions (Lafora bod...

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Bibliographic Details
Main Authors: Carola Rita Ferrari Aggradi, Martina Rimoldi, Gloria Romagnoli, Daniele Velardo, Megi Meneri, Davide Iacobucci, Michela Ripolone, Laura Napoli, Patrizia Ciscato, Maurizio Moggio, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti, Elena Abati
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Brain Sciences
Subjects:
Lafora disease
therapeutic strategies
EPM2B
EPM2A
tonic–clonic seizures
Lafora bodies
Online Access:https://www.mdpi.com/2076-3425/13/12/1679

Internet

https://www.mdpi.com/2076-3425/13/12/1679

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