A Case of Late-Onset MELAS

Kimata, K G; Gordan, Letícia Navarro; Ajax, Ernest T.; Davis, Patricia H.; Grabowski, Thomas J.

doi:10.1001/archneur.55.5.722

Cited by 30 publications

(16 citation statements)

References 9 publications

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“…Late onset MELAS were earlier reported in a 60-year-old man with a point mutation at 3,243 [Bataillard et al, 2001]. Yet another case had been described with leucoencephalopathy, stroke-like symptoms, deafness, and extensive basal ganglia calcifications at the age of 47 years having a heteroplasmic G4332A transition in the tRNA glutamine gene [Kimata et al, 1998]. Interestingly, we did not observe any of the known mutation(s), associated with MELAS.…”

Section: Discussionsupporting

confidence: 45%

“…The age of onset is highly variable and is very rare in patients over the age of 40 [Pavlakis et al, 1984;Hirano and Pavlakis, 1994]. However, late onset MELAS had also been reported [Kimata et al, 1998;Bataillard et al, 2001]. More often MELAS exist with very high genetic heterogeneity and broad spectrum of mutations in the protein coding as well as the protein synthesizing genes [Servidei, 2004].…”

Section: Introductionmentioning

confidence: 99%

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Clinical and genetic uniqueness in an individual with MELAS

Vanniarajan

Nayak

Reddy

et al. 2006

American J of Med Genetics Pt B

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Mitochondrial encephalopathy lactic acidosis stroke like episodes (MELAS) is a progressive neurodegenerative disorder with varying age of onset. It is a clinically and genetically heterogeneous disease. Molecular etiology of MELAS is not known in several cases. We have identified a unique individual with late onset MELAS at the age of 55 years. We have analyzed the complete mitochondrial genome of the tissue and blood samples of the patient. One novel heteroplasmic mutation (C13565A) in NADH dehydrogenase 5 subunit (ND5) gene was found only in the tissue sample but not in the blood. This mutation is missense causing a change of amino acid serine to tyrosine at position 410. This mutation was found neither in controls nor in world populations. This study has also confirmed ND5 as a hotspot for the mitochondrial diseases. This will be of great help for the clinicians in the diagnosis of MELAS.

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Section: Discussionsupporting

confidence: 45%

Section: Introductionmentioning

confidence: 99%

Clinical and genetic uniqueness in an individual with MELAS

Vanniarajan

Nayak

Reddy

et al. 2006

American J of Med Genetics Pt B

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“…Though clinically heterogeneous, MELAS classically manifests as stroke-like episodes in the parietal, temporal, or occipital lobes that can result in hemianopia, hemiparesis, and progressive neurodegeneration [1]. Other common clinical features of this multisystem disorder include short stature, sensorineural hearing loss, seizures, external ophthalmoplegia, headaches, dementia, encephalopathy, cardiomyopathy, nausea, vomiting, exercise intolerance, lactic acidosis, limb muscle weakness, and ataxia [2], [3].…”

Section: Introductionmentioning

confidence: 99%

“…However, these criteria do not offer a complete picture of the broad spectrum of presentations that have been identified, most notably late onset after age 40 [2], [3], [5], [6]. Clinical presentations suggestive of a MELAS warrant pursuit of molecular testing [6], [7].…”

Section: Introductionmentioning

confidence: 99%

Case report: 5year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)

Sunde

Blackburn

Cheema

et al. 2016

Molecular Genetics and Metabolism Reports

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Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that typically presents in childhood. We describe the follow-up of a patient who was diagnosed with late-onset MELAS at the age of 49. Her clinical course includes sensorineural hearing loss, seizures, and multiple episodes of stroke-like metabolic crises. Molecular genetic testing on whole blood revealed 31% heteroplasmy of a m.3243A > G variant in the mtDNA, the causative variant in approximately 80% of MELAS cases. The original diagnostic criteria for MELAS required the onset of stroke-like episodes prior to 40 years of age but this case and others demonstrate that onset may be delayed in certain individuals. Therefore, MELAS should be included in the differential diagnosis of stroke-like episodes in patients of any age.

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“…Indeed, MELAS first presenting at the age of 60 years has been reported. 30 Finally, diagnosis of mtDNA disease is hampered by the lack of a single, highly specific, widely available test.…”

Section: Commentmentioning

confidence: 99%

mtDNA Disease in the Primary Care Setting

Spellberg

Carroll²,

Robinson³

et al. 2001

Archives of Internal Medicine

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Disorders of mitochondrial DNA (mtDNA) may commonly present to primary care physicians but go undiagnosed. A 36-year-old man with a 15-year history of psychosis, seizures, and sensorineural hearing loss and a family history of diabetes mellitus and heart disease presented to our hospital without a unifying diagnosis. Physiologic, biochemical, and genetic testing revealed deficient aerobic metabolism, a defect in mitochondrial electron transport, and the presence of an A-to-G point mutation at position 3243 of the mitochondrial leucine-transfer RNA gene, establishing the diagnosis of mitochondrial encephalopathy, lactic acidosis, and strokelike syndrome (MELAS). Diagnosing mtDNA disorders requires a careful integration of clinical signs and symptoms with pedigree analysis and multidisciplinary testing. Diagnosis is important to provide genetic counseling, avoid unnecessary evaluation, and facilitate therapy for symptomatic relief.

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A Case of Late-Onset MELAS

Abstract: We describe a 60-year-old man with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) and discuss the mitochondrial DNA point mutation 3243. A diagnosis of MELAS should be considered in the appropriate clinical setting at any age.

Cited by 30 publications

References 9 publications

Clinical and genetic uniqueness in an individual with MELAS

Clinical and genetic uniqueness in an individual with MELAS

Case report: 5year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)

mtDNA Disease in the Primary Care Setting

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