Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities

Expert Rev Mol Med. 2020 Sep 17:22:e4. doi: 10.1017/erm.2020.5.


Progressive myoclonus epilepsies (PMEs) are a group of genetic neurological disorders characterised by the occurrence of epileptic seizures, myoclonus and progressive neurological deterioration including cerebellar involvement and dementia. The primary cause of PMEs is variable and alterations in the corresponding mutated genes determine the progression and severity of the disease. In most cases, they lead to the death of the patient after a period of prolonged disability. PMEs also share poor information on the pathophysiological bases and the lack of a specific treatment. Recent reports suggest that neuroinflammation is a common trait under all these conditions. Here, we review similarities and differences in neuroinflammatory response in several PMEs and discuss the window of opportunity of using anti-inflammatory drugs in the treatment of several of these conditions.

Keywords: Lafora disease; PMEs; Unverricht-Lundborg disease; lysosome; mitochondrial dysfunction; neuroinflammation; neuronal ceroid lipofuscinosis; progressive myoclonus epilepsy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Inflammation*
  • Mutation
  • Myoclonic Epilepsies, Progressive / genetics
  • Myoclonic Epilepsies, Progressive / physiopathology*
  • Myoclonic Epilepsies, Progressive / therapy