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Case Reports
. 2014 Aug;76(2):206-12.
doi: 10.1002/ana.24170. Epub 2014 May 20.

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

Nicola Vanni  1 , Floriana Fruscione, Edoardo Ferlazzo, Pasquale Striano, Angela Robbiano, Monica Traverso, Thomas Sander, Antonio Falace, Elisabetta Gazzerro, Placido Bramanti, Jacek Bielawski, Anna Fassio, Carlo Minetti, Pierre Genton, Federico Zara
Affiliations
Case Reports

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

Nicola Vanni et al. Ann Neurol. 2014 Aug.

Abstract

Objective: Alterations of sphingolipid metabolism are implicated in the pathogenesis of many neurodegenerative disorders.

Methods: We identified a homozygous nonsynonymous mutation in CERS1, the gene encoding ceramide synthase 1, in 4 siblings affected by a progressive disorder with myoclonic epilepsy and dementia. CerS1, a transmembrane protein of the endoplasmic reticulum (ER), catalyzes the biosynthesis of C18-ceramides.

Results: We demonstrated that the mutation decreases C18-ceramide levels. In addition, we showed that downregulation of CerS1 in a neuroblastoma cell line triggers ER stress response and induces proapoptotic pathways.

Interpretation: This study demonstrates that impairment of ceramide biosynthesis underlies neurodegeneration in humans.

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