Impaired autophagy: a link between neurodegenerative diseases and progressive myoclonus epilepsies

Abstract

In recent years, research into the molecular bases of neurodegenerative diseases has progressed, and therapies have been developed to combat the causative agents. Based on the observation that progressive myoclonus epilepsies (PMEs) and neurodegenerative diseases share common features of neurodegeneration, we propose that the two pathologies share common underlying molecular characteristics. It is well documented that autophagy is overloaded or impaired in neurodegenerative conditions, and it is also impaired in some PMEs, the clearest example being EPM2 (Lafora disease). Although more research into this connection is warranted, we propose that existing therapies for PMEs could be augmented with similar drugs as those used for neurodegenerative diseases.