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

Progressive 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...

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Autores: Godeiro Junior, Clécio de Oliveira, Vale, Thiago Cardoso, Afonso, Cintia Oliveira de Melo, Kok, Fernando, Pedroso, José Luiz, Barsottini, Orlando Graziani
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2018
País:Brasil
Recursos:Universidade Federal do Rio Grande do Norte (UFRN)
Repositório:Repositório Institucional da UFRN
Idioma:inglês
OAI Identifier:oai:repositorio.ufrn.br:123456789/52933
Acesso em linha:https://repositorio.ufrn.br/handle/123456789/52933
https://doi.org/10.1002/mdc3.12610
Access Level:Acceso aberto
Palavra-chave:ataxia
myoclonus
epilepsy
progressive myoclonic epilepsy
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spelling Progressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxiaataxiamyoclonusepilepsyprogressive myoclonic epilepsyProgressive 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.Movement Disorders Clinical Practice0000-0002-4312-16332023-06-29T20:34:07Z2023-06-29T20:34:07Z2018-03-13info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfGODEIRO 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.https://repositorio.ufrn.br/handle/123456789/52933https://doi.org/10.1002/mdc3.12610ark:/41046/001300001c9rnengreponame:Repositório Institucional da UFRNinstname:Universidade Federal do Rio Grande do Norte (UFRN)instacron:UFRNinfo:eu-repo/semantics/openAccessGodeiro Junior, Clécio de OliveiraVale, Thiago CardosoAfonso, Cintia Oliveira de MeloKok, FernandoPedroso, José LuizBarsottini, Orlando Graziani2023-06-30T17:20:04Zoai:repositorio.ufrn.br:123456789/52933Repositório InstitucionalPUBhttp://repositorio.ufrn.br/oai/repositorio@bczm.ufrn.bropendoar:2023-06-30T17:20:04Repositório Institucional da UFRN - Universidade Federal do Rio Grande do Norte (UFRN)false
dc.title.none.fl_str_mv Progressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxia
title Progressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxia
spellingShingle Progressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxia
Godeiro Junior, Clécio de Oliveira
ataxia
myoclonus
epilepsy
progressive myoclonic epilepsy
title_short Progressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxia
title_full Progressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxia
title_fullStr Progressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxia
title_full_unstemmed Progressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxia
title_sort Progressive myoclonic epilepsy type 8 due to CERS1 deficiency: a novel mutation with prominent ataxia
dc.creator.none.fl_str_mv Godeiro Junior, Clécio de Oliveira
Vale, Thiago Cardoso
Afonso, Cintia Oliveira de Melo
Kok, Fernando
Pedroso, José Luiz
Barsottini, Orlando Graziani
author Godeiro Junior, Clécio de Oliveira
author_facet Godeiro Junior, Clécio de Oliveira
Vale, Thiago Cardoso
Afonso, Cintia Oliveira de Melo
Kok, Fernando
Pedroso, José Luiz
Barsottini, Orlando Graziani
author_role author
author2 Vale, Thiago Cardoso
Afonso, Cintia Oliveira de Melo
Kok, Fernando
Pedroso, José Luiz
Barsottini, Orlando Graziani
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv 0000-0002-4312-1633
dc.subject.por.fl_str_mv ataxia
myoclonus
epilepsy
progressive myoclonic epilepsy
topic ataxia
myoclonus
epilepsy
progressive myoclonic epilepsy
description Progressive 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.
publishDate 2018
dc.date.none.fl_str_mv 2018-03-13
2023-06-29T20:34:07Z
2023-06-29T20:34:07Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv GODEIRO 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.
https://repositorio.ufrn.br/handle/123456789/52933
https://doi.org/10.1002/mdc3.12610
dc.identifier.dark.fl_str_mv ark:/41046/001300001c9rn
identifier_str_mv GODEIRO 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.
ark:/41046/001300001c9rn
url https://repositorio.ufrn.br/handle/123456789/52933
https://doi.org/10.1002/mdc3.12610
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Movement Disorders Clinical Practice
publisher.none.fl_str_mv Movement Disorders Clinical Practice
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFRN
instname:Universidade Federal do Rio Grande do Norte (UFRN)
instacron:UFRN
instname_str Universidade Federal do Rio Grande do Norte (UFRN)
instacron_str UFRN
institution UFRN
reponame_str Repositório Institucional da UFRN
collection Repositório Institucional da UFRN
repository.name.fl_str_mv Repositório Institucional da UFRN - Universidade Federal do Rio Grande do Norte (UFRN)
repository.mail.fl_str_mv repositorio@bczm.ufrn.br
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score 15.300724

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