Progressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxia

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dc.contributor.authorGodeiro Junior, Clécio de Oliveira
dc.contributor.authorVale, Thiago Cardoso
dc.contributor.authorAfonso, Cintia Oliveira de Melo
dc.contributor.authorKok, Fernando
dc.contributor.authorPedroso, José Luiz
dc.contributor.authorBarsottini, Orlando Graziani
dc.contributor.authorID0000-0002-4312-1633pt_BR
dc.date.accessioned2023-06-29T20:34:07Z
dc.date.available2023-06-29T20:34:07Z
dc.date.issued2018-03-13
dc.description.resumoProgressive myoclonic epilepsy (PME) is a heterogeneous groupof disorders characterized by myoclonus, tonic-clonic seizures,and progressive neurological dysfunction, including cognitiveimpairment and taxia. PME type 8 has recently been linked toa mutation inCERS1, the gene encoding ceramide synthase 1(Cers1), a transmembrane protein of the endoplasmic reticulumthat catalyzes the biosynthesis of C18-ceramides. Ceramides arethe precursors to complex sphingolipids, which are lipids with acommon sphingoid base (also termed long chain base) backbonethat plays an essential role in cell signaling, growth, proliferation,differentiation, and apoptosis. In the central nervous system, themost highly expressed ceramide synthase is Cers1, which is partic-ularly present in neurons of neocortex, hippocampus, and cere-bellum. Diminished levels of ceramides and sphingolipidscontaining very long-chain fatty acids have been associated withmany neurodegenerative disorders, including cerebellar Purkinjecell neurodegeneration. In addition, deficiency of Cers functionhave also been linked to accumulation of lipofuscin with ubiqui-tylated proteins in many brain regions.pt_BR
dc.identifier.citationGODEIRO JUNIOR, Clécio de Oliveira; VALE, Thiago Cardoso; AFONSO, Cintia Oliveira de Melo; KOK, Fernando; PEDROSO, José Luiz; BARSOTTINI, Orlando G.. Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: a novel mutation with prominent ataxia. Movement Disorders Clinical Practice, [S.L.], v. 5, n. 3, p. 330-332, 30 mar. 2018. Wiley. http://dx.doi.org/10.1002/mdc3.12610. Disponível em: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.12610. Acesso em: 29 jun. 2023.pt_BR
dc.identifier.doihttps://doi.org/10.1002/mdc3.12610
dc.identifier.urihttps://repositorio.ufrn.br/handle/123456789/52933
dc.languageenpt_BR
dc.publisherMovement Disorders Clinical Practicept_BR
dc.subjectataxiapt_BR
dc.subjectmyoclonuspt_BR
dc.subjectepilepsypt_BR
dc.subjectprogressive myoclonic epilepsypt_BR
dc.titleProgressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxiapt_BR
dc.typearticlept_BR

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