Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers

Monden, Yukifumi; Mori, Masayuki; Kuwajima, Mari; Goto, Tamako; Yamagata, Takanori; Momoi, Mariko Y.

doi:10.1016/j.braindev.2012.08.006

Cited by 15 publications

(12 citation statements)

References 9 publications

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“…To date, only four cases of MERRF with Leigh syndrome and m.8344A>G mutation have been reported ( 19 – 22 ). Sweeney et al reported the case of a 7-year-old boy with MERRF, ataxia, and myoclonic epilepsy who developed Leigh syndrome at the age of 18 when he contracted bacterial pneumonia ( 19 ).…”

Section: Discussionmentioning

confidence: 99%

“…Although brain autopsy results were indicative of Leigh syndrome, the authors did not investigate the rate of mtDNA mutation ( 21 ). Monden et al reported the case of a 4-year-old boy diagnosed with MERRF who developed Leigh syndrome at the age of 6 ( 22 ). Genetic analyses revealed that the boy also had an m.8344A>G mutation ( 22 ).…”

Section: Discussionmentioning

confidence: 99%

“…Monden et al reported the case of a 4-year-old boy diagnosed with MERRF who developed Leigh syndrome at the age of 6 ( 22 ). Genetic analyses revealed that the boy also had an m.8344A>G mutation ( 22 ). In three of these four cases, MERRF developed prior to the age of 7, with Leigh syndrome occurring 5–11 years later.…”

Section: Discussionmentioning

confidence: 99%

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Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation

et al. 2018

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We present the case of a 16-year-old boy with a family history of epilepsy who presented with acute respiratory failure, limb weakness, diabetes mellitus, sinus tachycardia, lactic acidosis, and pneumonia. He went on to develop cranial nerve palsy, myoclonus, generalized seizures, ataxia, recurrent pneumonia, and hypotension. Biochemical investigation revealed elevated lactate, pyruvate, and glucose levels. Cerebral magnetic resonance imaging (MRI) revealed bilateral, symmetric, high-intensity T2-weighted signals in the thalamus, brainstem, and gray matter of the spinal cord. Histochemical analyses revealed ragged red fibers (RRF) and decreased cytochrome oxidase activity. Blood and muscle-derived DNA demonstrated a high level (95% and 96%, respectively) of the m.8344A>G mutation, while almost all of his maternal relatives (n = 17, including his mother) carried the same point mutation. The point mutation level of his mother (who had short stature, high blood lactate levels, and epilepsy) was 77% (blood-derived DNA). Although this mutation has been identified in approximately 30 individuals with these disorders, to our knowledge, this is the first reported case of overlapping Leigh syndrome/myoclonic epilepsy with RRF in an adolescent patient, and the largest reported pedigree of mitochondrial DNA A8344G mutation.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation

et al. 2018

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“…(3) Single large-scale mtDNA deletions, present in many neurological disorders, often characterized by reduction of life span in the patients affected by these diseases ( i.e. , Kearns Sayre syndrome, KSS) ([10] and references within [42,55]). Recently, many groups have found that random mutations in mtDNA can affect lifespan in mice and are associated with premature aging [56,57].…”

Section: Mitochondrial Dna Alterations In Diseasesmentioning

confidence: 99%

Parkinson’s Disease: A Complex Interplay of Mitochondrial DNA Alterations and Oxidative Stress

Ciccone

Maiani

Bellusci

et al. 2013

IJMS

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Parkinson’s disease (PD) is one of the most common age-related neurodegenerative diseases. This pathology causes a significant loss of dopaminergic neurons in the Substantia Nigra. Several reports have claimed a role of defective nuclear and mitochondrial DNA repair pathways in PD etiology, in particular, of the Base Excision Repair (BER) system. In addition, recent findings, related to PD progression, indicate that oxidative stress pathways involving c-Abl and GST could also be implicated in this pathology. This review focuses on recently described networks most likely involved in an integrated manner in the course of PD.

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“…In MRI, T2 hyperintensity is an evident signal in the basal ganglia, thalamus, substancia nigra, red nucleus, cerebellar cortex, white matter of the brain and spinal cord. Unifocal or multifocal areas of infarction, cortical atrophy with ventricular dilatation can coexist [9][10][11][12][13].…”

Section: Introductionmentioning

confidence: 99%