John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome Volume 18, supplément 2, September 2016


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1 Epilepsy Research Group, School of Pharmacy and Medical Sciences, University of South Australia, and Sansom Institute for Health Research, South Australia, Australia
2 Fakultät für Chemie, Universität Bielefeld, Germany
3 Biochemical Institute, Christian-Albrechts-University Kiel, Germany
4 Danish Epilepsy Center, Filadelfia/University of Copenhagen, Dianalund, Denmark
5 IRCCS, Institute of Neurologicak Sciences, Bellaria Hospital, Bologna, Italy
* Correspondence: L. Dibbens Epilepsy Research Group, School of Pharmacy and Medical Sciences, University of South Australia and Sansom Institute for Health Research, Adelaide 5000, South Australia, Australia
  • Mots-clés : progressive myoclonus epilepsy, myoclonus, cerebellar syndrome, photosensitivity, SCARB2, LIMP2, lysosome
  • DOI : 10.1684/epd.2016.0843
  • Page(s) : 63-72
  • Année de parution : 2016

Action myoclonus–renal failure syndrome (AMRF) is an autosomal recessive progressive myoclonus epilepsy (PME) associated with renal dysfunction that appears in the second or third decade of life and that is caused by loss-of-function mutations in the SCARB2 gene encoding lysosomal integral membrane protein type 2 (LIMP2). Recent reports have documented cases with PME associated with SCARB2 mutations without renal compromise. Additional neurological features can be demyelinating peripheral neuropathy, hearing loss and dementia. The course of the disease in relentlessly progressive. In this paper we provide an updated overview of the clinical and genetic features of SCARB2-related PME and on the functions of the LIMP2 protein.