A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity

Marsha Zeigler, Vardiella Meiner, J. P. Newman, Bettina Steiner-Birmanns, Ruth Bargal, Vivi Sury, Getu Mengistu, Or Kakhlon, Ina Leykin, Zohar Argov, Oded Abramsky, Alexander Lossos*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

Action myoclonus renal failure (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene. This gene is involved in lysosomal mannose-6-phosphate- independent trafficking of β-glucocerebrosidase (GC), an enzyme deficient in Gaucher disease. We report a family with myoclonic epilepsy, ataxia and skeletal muscle atrophy but without cognitive impairment or overt renal disease. A novel SCARB2 mutation was indicated by a striking discrepancy between lymphocyte and fibroblast GC activity in the proband evaluated for possible Gaucher disease. Our findings expand the genetic and phenotypic diversity of AMRF and suggest that low GC activity may present an important biochemical clue to the diagnosis of AMRF.

Original languageAmerican English
Pages (from-to)210-213
Number of pages4
JournalJournal of the Neurological Sciences
Volume339
Issue number1-2
DOIs
StatePublished - 15 Apr 2014
Externally publishedYes

Keywords

  • Action myoclonus renal failure syndrome
  • Ataxia
  • Gaucher disease
  • LIMP2
  • Progressive myoclonus epilepsy
  • SCARB2

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