When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?

When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?

ABSTRACTMitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include typical manifestations of the disease: stroke-like episodes, encephalopathy, evidence of mitochondrial dysfunction (laboratorial o...

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Main Authors: Lorenzoni,Paulo José, Werneck,Lineu Cesar, Kay,Cláudia Suemi Kamoi, Silvado,Carlos Eduardo Soares, Scola,Rosana Herminia
Format: Digital revista
Language:English
Published: Academia Brasileira de Neurologia - ABNEURO 2015
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001100959
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spelling oai:scielo:S0004-282X20150011009592015-10-22When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?Lorenzoni,Paulo JoséWerneck,Lineu CesarKay,Cláudia Suemi KamoiSilvado,Carlos Eduardo SoaresScola,Rosana Herminia MELAS mitochondria myopathy stroke encephalopathy genetics ABSTRACTMitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include typical manifestations of the disease: stroke-like episodes, encephalopathy, evidence of mitochondrial dysfunction (laboratorial or histological) and known mitochondrial DNA gene mutations. Clinical features of MELAS 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 tRNALeu(UUR) gene of the DNAmt, mainly A3243G, are responsible for more of 80% of MELAS cases. Morphological changes seen upon muscle biopsy in MELAS include a substantive proportion of ragged red fibers (RRF) and the presence of vessels with a strong reaction for succinate dehydrogenase. In this review, we discuss mainly diagnostic criterion, clinical and laboratory manifestations, brain images, histology and molecular findings as well as some differential diagnoses and current treatments.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.73 n.11 20152015-11-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001100959en10.1590/0004-282X20150154
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libraryname SciELO
language English
format Digital
author Lorenzoni,Paulo José
Werneck,Lineu Cesar
Kay,Cláudia Suemi Kamoi
Silvado,Carlos Eduardo Soares
Scola,Rosana Herminia
spellingShingle Lorenzoni,Paulo José
Werneck,Lineu Cesar
Kay,Cláudia Suemi Kamoi
Silvado,Carlos Eduardo Soares
Scola,Rosana Herminia
When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?
author_facet Lorenzoni,Paulo José
Werneck,Lineu Cesar
Kay,Cláudia Suemi Kamoi
Silvado,Carlos Eduardo Soares
Scola,Rosana Herminia
author_sort Lorenzoni,Paulo José
title When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?
title_short When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?
title_full When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?
title_fullStr When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?
title_full_unstemmed When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?
title_sort when should melas (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) be the diagnosis?
description ABSTRACTMitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a rare mitochondrial disorder. Diagnostic criteria for MELAS include typical manifestations of the disease: stroke-like episodes, encephalopathy, evidence of mitochondrial dysfunction (laboratorial or histological) and known mitochondrial DNA gene mutations. Clinical features of MELAS 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 tRNALeu(UUR) gene of the DNAmt, mainly A3243G, are responsible for more of 80% of MELAS cases. Morphological changes seen upon muscle biopsy in MELAS include a substantive proportion of ragged red fibers (RRF) and the presence of vessels with a strong reaction for succinate dehydrogenase. In this review, we discuss mainly diagnostic criterion, clinical and laboratory manifestations, brain images, histology and molecular findings as well as some differential diagnoses and current treatments.
publisher Academia Brasileira de Neurologia - ABNEURO
publishDate 2015
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001100959
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