When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de neuro-psiquiatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014001000803 |
Resumo: | Myoclonic epilepsy associated with ragged red fibers (MERRF) is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized epilepsy, cerebellar ataxia and ragged red fibers (RRF) on muscle biopsy. Clinical features of MERRF are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. It is estimated that point mutations in the tRNALys gene of the DNAmt, mainly A8344G, are responsible for almost 90% of MERRF cases. Morphological changes seen upon muscle biopsy in MERRF include a substantive proportion of RRF, muscle fibers showing a deficient activity of cytochrome c oxidase (COX) and the presence of vessels with a strong reaction for succinate dehydrogenase and COX deficiency. In this review, we discuss mainly clinical and laboratory manifestations, brain images, electrophysiological patterns, histology and molecular findings as well as some differential diagnoses and treatments. |
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When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?MERRFmitochondrialepilepsymyoclonusmyopathyMyoclonic epilepsy associated with ragged red fibers (MERRF) is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized epilepsy, cerebellar ataxia and ragged red fibers (RRF) on muscle biopsy. Clinical features of MERRF are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. It is estimated that point mutations in the tRNALys gene of the DNAmt, mainly A8344G, are responsible for almost 90% of MERRF cases. Morphological changes seen upon muscle biopsy in MERRF include a substantive proportion of RRF, muscle fibers showing a deficient activity of cytochrome c oxidase (COX) and the presence of vessels with a strong reaction for succinate dehydrogenase and COX deficiency. In this review, we discuss mainly clinical and laboratory manifestations, brain images, electrophysiological patterns, histology and molecular findings as well as some differential diagnoses and treatments.Academia Brasileira de Neurologia - ABNEURO2014-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014001000803Arquivos de Neuro-Psiquiatria v.72 n.10 2014reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282X20140124info:eu-repo/semantics/openAccessLorenzoni,Paulo JoséScola,Rosana HerminiaKay,Cláudia Suemi KamoiSilvado,Carlos Eduardo S.Werneck,Lineu Cesareng2014-10-17T00:00:00Zoai:scielo:S0004-282X2014001000803Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2014-10-17T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? |
title |
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? |
spellingShingle |
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? Lorenzoni,Paulo José MERRF mitochondrial epilepsy myoclonus myopathy |
title_short |
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? |
title_full |
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? |
title_fullStr |
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? |
title_full_unstemmed |
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? |
title_sort |
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? |
author |
Lorenzoni,Paulo José |
author_facet |
Lorenzoni,Paulo José Scola,Rosana Herminia Kay,Cláudia Suemi Kamoi Silvado,Carlos Eduardo S. Werneck,Lineu Cesar |
author_role |
author |
author2 |
Scola,Rosana Herminia Kay,Cláudia Suemi Kamoi Silvado,Carlos Eduardo S. Werneck,Lineu Cesar |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Lorenzoni,Paulo José Scola,Rosana Herminia Kay,Cláudia Suemi Kamoi Silvado,Carlos Eduardo S. Werneck,Lineu Cesar |
dc.subject.por.fl_str_mv |
MERRF mitochondrial epilepsy myoclonus myopathy |
topic |
MERRF mitochondrial epilepsy myoclonus myopathy |
description |
Myoclonic epilepsy associated with ragged red fibers (MERRF) is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized epilepsy, cerebellar ataxia and ragged red fibers (RRF) on muscle biopsy. Clinical features of MERRF are not necessarily uniform in the early stages of the disease, and correlations between clinical manifestations and physiopathology have not been fully elucidated. It is estimated that point mutations in the tRNALys gene of the DNAmt, mainly A8344G, are responsible for almost 90% of MERRF cases. Morphological changes seen upon muscle biopsy in MERRF include a substantive proportion of RRF, muscle fibers showing a deficient activity of cytochrome c oxidase (COX) and the presence of vessels with a strong reaction for succinate dehydrogenase and COX deficiency. In this review, we discuss mainly clinical and laboratory manifestations, brain images, electrophysiological patterns, histology and molecular findings as well as some differential diagnoses and treatments. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-10-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014001000803 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014001000803 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/0004-282X20140124 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
dc.source.none.fl_str_mv |
Arquivos de Neuro-Psiquiatria v.72 n.10 2014 reponame:Arquivos de neuro-psiquiatria (Online) instname:Academia Brasileira de Neurologia instacron:ABNEURO |
instname_str |
Academia Brasileira de Neurologia |
instacron_str |
ABNEURO |
institution |
ABNEURO |
reponame_str |
Arquivos de neuro-psiquiatria (Online) |
collection |
Arquivos de neuro-psiquiatria (Online) |
repository.name.fl_str_mv |
Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia |
repository.mail.fl_str_mv |
||revista.arquivos@abneuro.org |
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1754212777190227968 |