SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.

Leanne Dibbens, Michael Schwake, Paul Saftig, Guido Rubboli

Epileptic disorders : international epilepsy journal with videotape 2016 Sep 01

filter terms:

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.

Citation

Leanne Dibbens, Michael Schwake, Paul Saftig, Guido Rubboli. SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. Epileptic disorders : international epilepsy journal with videotape. 2016 Sep 01;18(S2):63-72