John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Autosomal dominant cortical tremor, myoclonus and epilepsy Volume 18, supplément 2, September 2016

Illustrations

  • Figure 1
  • Figure 2
Auteurs
Department of Neurosciences, G. Gaslini Institute, University of Genoa, Genoa, Italy
* Correspondence: Pasquale Striano Department of Neurosciences, G. Gaslini Institute, University of Genoa, Genoa, Italy
  • Mots-clés : cortical tremor, myoclonus, epilepsy, genetics, autosomal dominant, progressive myoclonus epilepsies
  • DOI : 10.1684/epd.2016.0860
  • Page(s) : 139-44
  • Année de parution : 2016

The term ‘cortical tremor’ was first introduced by Ikeda and colleagues to indicate a postural and action-induced shivering movement of the hands which mimics essential tremor, but presents with the electrophysiological findings of cortical reflex myoclonus. The association between autosomal dominant cortical tremor, myoclonus and epilepsy (ADCME) was first recognized in Japanese families and is now increasingly reported worldwide, although it is described using different acronyms (BAFME, FAME, FEME, FCTE and others). The disease usually takes a benign course, although drug-resistant focal seizures or slight intellectual disability occur in some cases.Moreover, a worsening of cortical tremor and myoclonus is common in advanced age. Although not yet recognized by the International League Against Epilepsy (ILAE), this is a well-delineated epilepsy syndrome with remarkable features that clearly distinguishes it from other myoclonus epilepsies. Moreover, genetic studies of these families show heterogeneity and different susceptible chromosomal loci have been identified.