Lafora Disease Explained
Jordi Duran, PhD , Associate Professor at Institut Químic de Sarrià in Barcelona, and Niki Markou, parent of a child with Lafora disease, discuss the symptoms and pathophysiology of Lafora Disease.
Lafora disease is a rare neurodegenerative condition that often begins in adolescence with epileptic seizures but progresses rapidly with severe neurodegeneration. It is a genetic disease. Mutations in EMP2A and NHLRC1 genes account for most cases of Lafora disease. These mutations lead to an accumulation of glycogen in cells that eventually are toxic – especially in the brain.
One possible treatment for Lafora disease may be similar to another disease associated with glycogen accumulation, Pompe disease. The latter condition is treated with enzyme replacement therapy and that is one form of therapy being investigated for Lafora disease.
A documentary about Lafora disease is available at www.fightingtherare.com/
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