Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme

Andrea Dardis, Mirella Filocamo, Serena Grossi, Giovanni Ciana, Silvana Franceschetti, Silvia Dominissini, Guido Rubboli, Maya Di Rocco, Bruno Bembi

Research output: Contribution to journalArticlepeer-review

Abstract

A deficiency of human LIMP-2, a receptor for lysosomal mannose 6-phosphate-independent targeting of the β-glucosidase (βGC), due to mutations in the SCARB2 gene was described only in six families presented with progressive myoclonic epilepsy and nephrotic syndrome. In one of them a mistarget of the βGC was demonstrated. We report here the biochemical and molecular findings in a patient diagnosed with progressive myoclonic epilepsy due to a mistarget of the βGC, probably caused by a LIMP-2 deficiency, providing valuable information for the diagnosis of this rare disorder.

Original languageEnglish
Pages (from-to)309-311
Number of pages3
JournalMolecular Genetics and Metabolism
Volume97
Issue number4
DOIs
Publication statusPublished - Aug 2009

Keywords

  • β-Glucosidase
  • LIMP-2 deficiency
  • Myoclonus

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Fingerprint Dive into the research topics of 'Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme'. Together they form a unique fingerprint.

Cite this