Inhibiting glycogen synthesis prevents lafora disease in a mouse model

Bartholomew A. Pederson, Julie Turnbull, Jonathan R. Epp, Staci A. Weaver, Xiaochu Zhao, Nela Pencea, Peter J. Roach, Paul W. Frankland, Cameron A. Ackerley, Berge A. Minassian

Research output: Contribution to journalArticle

38 Scopus citations


Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by aggregates of abnormally structured glycogen and proteins (Lafora bodies [LBs]), and neurodegeneration. Whether LBs could be prevented by inhibiting glycogen synthesis and whether they are pathogenic remain uncertain. We genetically eliminated brain glycogen synthesis in LD mice. This resulted in long-term prevention of LB formation, neurodegeneration, and seizure susceptibility. This study establishes that glycogen synthesis is requisite for LB formation and that LBs are pathogenic. It opens a therapeutic window for potential treatments in LD with known and future small molecule inhibitors of glycogen synthesis.

Original languageEnglish (US)
Pages (from-to)297-300
Number of pages4
JournalAnnals of Neurology
Issue number2
StatePublished - Aug 1 2013


ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Pederson, B. A., Turnbull, J., Epp, J. R., Weaver, S. A., Zhao, X., Pencea, N., Roach, P. J., Frankland, P. W., Ackerley, C. A., & Minassian, B. A. (2013). Inhibiting glycogen synthesis prevents lafora disease in a mouse model. Annals of Neurology, 74(2), 297-300.