MELAS: An original case and clinical criteria for diagnosis

Hirano, Michio; Ricci, Enzo; Koenigsberger, M. Richard; Defendini, Richard; Pavlakis, Steven G.; DeVivo, Darryl C.; DiMauro, Salvatore; Rowland, Lewis P.

doi:10.1016/0960-8966(92)90045-8

Cited by 352 publications

(279 citation statements)

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“…Early disease development is normal in about 90% of MELAS patients 3,4,13 . The onset of this disease occurs before age 40 and is often seen in childhood, with gradual deterioration 3,4,14 .…”

Section: Discussionmentioning

confidence: 99%

“…Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of occurring mitochondrial disease which includes in its definition encephalopathy, frequently with seizures and progressive dementia; stroke-like episodes at a young age; and biochemical evidence for mitochondrial defects, such as lactic acidosis or ragged-red fibers (RRF) in the muscle biopsy 3,4,6 . The pathogenesis of stroke-like episodes in MELAS is controversial; the two major hypotheses posit dependence on metabolic dysfunction or angiopathy in Melas Lorenzoni et al the brain, but these two elements are thought to be related 7 .…”

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confidence: 99%

“…Mitochondrial encephalomyopathies are a heterogeneous group of clinical syndromes, with various biochemical defects of the respiratory chain due to primary defects in cellular mitochondria [1][2][3][4][5] . Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of occurring mitochondrial disease which includes in its definition encephalopathy, frequently with seizures and progressive dementia; stroke-like episodes at a young age; and biochemical evidence for mitochondrial defects, such as lactic acidosis or ragged-red fibers (RRF) in the muscle biopsy 3,4,6 .…”

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MELAS: clinical features, muscle biopsy and molecular genetics

Lorenzoni

Scola

Kay

et al. 2009

Arq. Neuro-Psiquiatr.

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-Objective: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. Method: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. Results: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle biopsy showed ralled-red fibers (RRF) in 90% of patients on modified Gomori-trichrome and in 100% on succinate dehydrogenase stains. Cytochrome c oxidase stain analysis indicated deficient activity in one patient and subsarcolemmal accumulation in seven patients. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in six patients. The molecular analysis of tRNA Leu(UUR) gene by PCR/RLFP and direct sequencing showed the A3243G mutation on mtDNA in 4 patients. Conclusion: The muscle biopsy often confirmed the MELAS diagnosis by presence of RRF and SSV.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

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MELAS: clinical features, muscle biopsy and molecular genetics

Lorenzoni

Scola

Kay

et al. 2009

Arq. Neuro-Psiquiatr.

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“…Patients commonly manifest with generalized tonic-clonic seizures, recurrent headaches, anorexia with recurrent vomiting and postlingual hearing loss, [78][79][80] but can manifest with impaired: motor ability, vision and mental acuity due to the cumulative effect of multiple stroke-like episodes. MELAS is commonly (80% of cases) caused by a A>G transition at m.3243 in MTTL1, 81 but is also associated with variants in MTND5.…”

Section: Mitochondrial Geneticsmentioning

confidence: 99%

Mitochondrial Genetics

2004

Encyclopedic Dictionary of Genetics, Genomics and Proteomics

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“…Some genotypes produce relatively specific CNS syndromes. For example, in the syndrome of M itochondrial E ncephalomyopathy, L actic A cidosis and S troke‐Like Episodes, most commonly resulting from the m.3243A>G point mutation,9, 10 patients suffer repeated episodes of encephalopathy and stroke‐like episodes, usually accompanied by focal seizures in the parietal and occipital lobes. Focal and generalized status epilepticus can occur in association with these stroke‐like episodes.…”

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confidence: 99%

Epilepsy in adults with mitochondrial disease: A cohort study

Whittaker

Devine

Gorman

et al. 2015

Annals of Neurology

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ObjectiveThe aim of this work was to determine the prevalence and progression of epilepsy in adult patients with mitochondrial disease.MethodsWe prospectively recruited a cohort of 182 consecutive adult patients attending a specialized mitochondrial disease clinic in Newcastle upon Tyne between January 1, 2005 and January 1, 2008. We then followed this cohort over a 7‐year period, recording primary outcome measures of occurrence of first seizure, status epilepticus, stroke‐like episode, and death.ResultsOverall prevalence of epilepsy in the cohort was 23.1%. Mean age of epilepsy onset was 29.4 years. Prevalence varied widely between genotypes, with several genotypes having no cases of epilepsy, a prevalence of 34.9% in the most common genotype (m.3243A>G mutation), and 92.3% in the m.8344A>G mutation. Among the cohort as a whole, focal seizures, with or without progression to bilateral convulsive seizures, was the most common seizure type. Conversely, all of the patients with the m.8344A>G mutation and epilepsy experienced myoclonic seizures. Patients with the m.3243A>G mutation remain at high risk of developing stroke‐like episodes (1.16% per year). However, although the standardized mortality ratio for the entire cohort was high (2.86), this ratio did not differ significantly between patients with epilepsy (2.96) and those without (2.83).InterpretationEpilepsy is a common manifestation of mitochondrial disease. It develops early in the disease and, in the case of the m.3243A>G mutation, often presents in the context of a stroke‐like episode or status epilepticus. However, epilepsy does not itself appear to contribute to the increased mortality in mitochondrial disease. Ann Neurol 2015;78:949–957

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MELAS: An original case and clinical criteria for diagnosis

Cited by 352 publications

References 50 publications

MELAS: clinical features, muscle biopsy and molecular genetics

MELAS: clinical features, muscle biopsy and molecular genetics

Mitochondrial Genetics

Epilepsy in adults with mitochondrial disease: A cohort study

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