Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings
| Autor: | M. Clara Sá-Miranda, Daniel Caiola, João Chaves, Andrea Balreira, José Lopes Lima, Idalina Beirão, Paulo Gaspar |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Adult
Pathology medicine.medical_specialty Limp Clinical Neurology Progressive myoclonus epilepsy Glucocerebroside medicine.disease_cause Bioinformatics Nephropathy Young Adult Epilepsy Fatal Outcome medicine Humans Renal Insufficiency Receptors Scavenger Mutation business.industry Complement C1q Siblings Action-myoclonus renal failure syndrome Lysosome-Associated Membrane Glycoproteins SCARB2 General Medicine Myoclonic Epilepsies Progressive medicine.disease SCARB2/LIMP-2 deficiency Neurology Female Neurology (clinical) medicine.symptom Lysosomes business Glucocerebrosidase |
| Zdroj: | Seizure. 20:738-740 |
| ISSN: | 1059-1311 |
| DOI: | 10.1016/j.seizure.2011.06.018 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect