title: SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.
abstract: 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.
authors: Epilepsy Research Group, School of Pharmacy and Medical Sciences, University of South Australia, and Sansom Institute for Health Research, South Australia, Australia.
authors: Leanne
authors: L
authors: Dibbens
authors: Fakultät für Chemie, Universität Bielefeld, Germany.
authors: Michael
authors: M
authors: Schwake
authors: Biochemical Institute, Christian-Albrechts-University Kiel, Germany.
authors: Paul
authors: P
authors: Saftig
authors: Danish Epilepsy Center, Filadelfia/University of Copenhagen, Dianalund, Denmark, IRCCS, Institute of Neurologicak Sciences, Bellaria Hospital, Bologna, Italy.
authors: Guido
authors: G
authors: Rubboli
mesh_terms: D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics* / Q000503:physiopathology*; D051116:Receptors, Scavenger / Q000235:genetics*; D051437:Renal Insufficiency / Q000235:genetics* / Q000503:physiopathology*; D013577:Syndrome
chemical_list: D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human
keywords: LIMP2; SCARB2; cerebellar syndrome; lysosome; myoclonus; photosensitivity; progressive myoclonus epilepsy