November 30, 2015: Lafora Body Disease
November 30, 2015
Lafora Body Disease
Lafora body disease, a progressive myoclonic epilepsy, is an autosomal recessive neurodegenerative disease characterized by an intractable myoclonic epilepsy, regression in milestones after a period of normal development, and is often fata by early adulthood. The disease is associated with mutations in EPM2A, EPM2B, and NHLRC1 genes, believed to play important roles on proteolysis.1 Though, increasing evidence in animal models suggests the glycogen accumulation observed in Lafora body disease may be secondary to defective autophagy and endosomal-lysosomal trafficking, pathways which may be dysregulated in Alzheimer's disease and ALS.2 While treatment for Lafora body disease remains symptomatic, future therapies may include targeted therapies modifying glycogen metabolism.
- Singh S, Ganesh S. Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. Hum Mutat 2009; 30: 715-723.
- Singh PK, Singh S. Changing shapes of glycogen-autophagy nexus in neurons: perspective from a rare epilepsy. Front Neurol 2015; 6: 14.
Submitted by Adam Numis, MD, Department of Neurology, University of California, Los Angeles.
Disclosures: Dr. Numis is a member of the Resident and Fellow Section of Neurology.