title: Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings.
abstract: Action myoclonus-renal failure syndrome (AMRF) is considered a rare form of progressive myoclonus epilepsy (PME) associated with renal failure. A mutation on the gene encoding the lysosomal integral membrane protein type 2-LIMP-2 (SCARB2), the receptor responsible for targeting glucocerebrosidase to the lysosomes, was recently described, allowing a better understanding of its etiopathogenesis. We describe clinically two sisters with AMRF that resulted from a mutation in the SCARB2 gene. The renal involvement was due to nephropathy C1q. When substrate-reduction therapy, to correct the possible glucocerebroside storage in the cells with glucocerebrosidase deficiency, was administered to one of the siblings, a significant improvement was observed. This report points out a rational for a therapeutical approach to this new lysossomopathy.
authors.affiliation: Serviço de Neurologia, Hospital Santo António, Porto, Portugal. joaomchaves71@hotmail.com
authors.forename: João
authors.initials: J
authors.lastname: Chaves
authors.forename: Idalina
authors.initials: I
authors.lastname: Beirão
authors.forename: Andrea
authors.initials: A
authors.lastname: Balreira
authors.forename: Paulo
authors.initials: P
authors.lastname: Gaspar
authors.forename: Daniel
authors.initials: D
authors.lastname: Caiola
authors.forename: M Clara
authors.initials: MC
authors.lastname: Sá-Miranda
authors.forename: José L
authors.initials: JL
authors.lastname: Lima
mesh_terms: D000328:Adult; D015922:Complement C1q / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000172:deficiency* / Q000235:genetics*; D008247:Lysosomes / Q000235:genetics / Q000378:metabolism; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D051116:Receptors, Scavenger / Q000172:deficiency* / Q000235:genetics*; D051437:Renal Insufficiency / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D035781:Siblings; D055815:Young Adult
chemical_list: D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human; D015922:Complement C1q