Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings

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• 作者：Joã ; o Chaves^a ;   ; ^{joaomchaves71@hotmail.com} ; Idalina Beirã ; o^b ; Andrea Balreira^c ; Paulo Gaspar^c ; Daniel Caiola^c ; M. Clara Sá ; -Miranda^c ; José ; L. Lima^a
• 关键词：Action-myoclonus renal failure syndrome ; SCARB2/LIMP-2 deficiency
• 刊名：Seizure
• 出版年：2011
• 出版时间：November 2011
• 年：2011
• 卷：20
• 期：9
• 页码：738-740
• 全文大小：437 K

文摘

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.