Cerebral imaging in adult mitochondrial disorders

Finsterer, Josef

doi:10.1016/j.jns.2019.07.013

Cited by 6 publications

(4 citation statements)

References 58 publications

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“…Structural abnormalities on imaging of the brain in patients with MIDs are manifold, and may be different between early-onset and late-onset MIDs. Structural abnormalities found in paediatric MID patients include diffuse, patchy, periventricular, subcortical, or semioval white or grey matter lesions (WMLs, GMLs), stroke-like lesions (SLLs, the morphological equivalent of stroke-like episodes, SLEs), cerebral atrophy, calcifications, or optic atrophy [ 11 ]. Some of these lesions remain stable for years, whereas others are dynamic (e.g., SLLs and GMLs) [ 11 ].…”

Section: Resultsmentioning

confidence: 99%

“…Structural abnormalities found in paediatric MID patients include diffuse, patchy, periventricular, subcortical, or semioval white or grey matter lesions (WMLs, GMLs), stroke-like lesions (SLLs, the morphological equivalent of stroke-like episodes, SLEs), cerebral atrophy, calcifications, or optic atrophy [ 11 ]. Some of these lesions remain stable for years, whereas others are dynamic (e.g., SLLs and GMLs) [ 11 ]. Cerebral lesions reported in adult MID patients include SLLs, laminar cortical necrosis, basal ganglia necrosis, focal or diffuse WMLs, focal or diffuse atrophy, intra-cerebral calcifications, cysts, lacunas, haemorrhages, cerebral hypo- or hyperperfusion, intra-cerebral artery stenoses, or moyamoya syndrome [ 12 ].…”

Section: Resultsmentioning

confidence: 99%

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Biomarkers for Detecting Mitochondrial Disorders

Finsterer

Zarrouk‐Mahjoub

2018

JCM

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(1) Objectives: Mitochondrial disorders (MIDs) are a genetically and phenotypically heterogeneous group of slowly or rapidly progressive disorders with onset from birth to senescence. Because of their variegated clinical presentation, MIDs are difficult to diagnose and are frequently missed in their early and late stages. This is why there is a need to provide biomarkers, which can be easily obtained in the case of suspecting a MID to initiate the further diagnostic work-up. (2) Methods: Literature review. (3) Results: Biomarkers for diagnostic purposes are used to confirm a suspected diagnosis and to facilitate and speed up the diagnostic work-up. For diagnosing MIDs, a number of dry and wet biomarkers have been proposed. Dry biomarkers for MIDs include the history and clinical neurological exam and structural and functional imaging studies of the brain, muscle, or myocardium by ultrasound, computed tomography (CT), magnetic resonance imaging (MRI), MR-spectroscopy (MRS), positron emission tomography (PET), or functional MRI. Wet biomarkers from blood, urine, saliva, or cerebrospinal fluid (CSF) for diagnosing MIDs include lactate, creatine-kinase, pyruvate, organic acids, amino acids, carnitines, oxidative stress markers, and circulating cytokines. The role of microRNAs, cutaneous respirometry, biopsy, exercise tests, and small molecule reporters as possible biomarkers is unsolved. (4) Conclusions: The disadvantages of most putative biomarkers for MIDs are that they hardly meet the criteria for being acceptable as a biomarker (missing longitudinal studies, not validated, not easily feasible, not cheap, not ubiquitously available) and that not all MIDs manifest in the brain, muscle, or myocardium. There is currently a lack of validated biomarkers for diagnosing MIDs.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Biomarkers for Detecting Mitochondrial Disorders

Finsterer

Zarrouk‐Mahjoub

2018

JCM

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“…Some of the clinical features can be grouped into specific syndromes, such as Leigh syndrome, Kearns–Sayre syndrome, myoclonic epilepsy myopathy sensory ataxia, mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS), and myoclonic epilepsy with ragged red fibers (RRFs) syndrome. Common neuroimaging findings include white- or gray-matter lesions, atrophy, optic atrophy, stroke-like lesions, calcifications, and ischemic stroke ( 3 ). The diagnosis is complicated by variations in clinical phenotype and genotype.…”

Section: Introductionmentioning

confidence: 99%

Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW

2021

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Mitochondrial diseases are a group of common inherited disorders caused by mutations in nuclear DNA or mitochondrial DNA (mtDNA); the clinical phenotype of diseases caused by mutant mtDNA is challenging owing to heteroplasmy of mtDNA and may delay diagnosis and treatment. Herein, we report the case of an adult male who slowly developed epilepsy, ataxia, dystonia, impaired cognition, and hearing impairment over 14 years in the absence of clinical myopathy. His lactate level was normal. Brain computed tomography showed calcifications of the bilateral basal ganglia, thalamus, and cerebellar dentate nuclei. Magnetic resonance imaging revealed multiple lesions in the bilateral internal capsule and periventricular areas, which were hypointense on T1-weighted images and hyperintense on T2-weighted images. The first blood genetic test result was negative. Two years later, a muscle biopsy was performed. Succinate dehydrogenase (SDH) staining showed several ragged blue fibers and atypical strongly SDH-reactive vessels. Cytochrome C oxidase (COX) staining revealed abundant COX-deficient fibers. mtDNA testing of blood and muscle revealed a rare m.5549G>A mutation in the MT-TW gene. It was heteroplasmic, with 5.4% mutant mtDNA in the blood and 61.5% in the muscle. The patient was diagnosed with mitochondrial encephalomyopathy and treated with levetiracetam instead of valproate to reduce possible mitochondrial toxicity. After receiving anti-epileptic drugs and mitochondrial supplements, the patient remained clinically stable. For mitochondrial disease, when mutant mtDNA is not detected in blood, muscle biopsy should be performed in routine analysis, and it should be genetically tested, even if there are no manifestations of myopathy.

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“…In particular, the central nervous system (CNS), including the brain and spinal cord, is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain [2]. While the clinical manifestations and the corresponding radiological findings of the brain involvement of mitochondrial diseases (e.g., stroke-like episodes, signal changes of the basal ganglia, cerebral and cerebellar atrophy) are well known [3,4], at present there are few data on the spinal-cord abnormalities in these pathologies, especially in adult subjects [5,6]. A detailed evaluation of this clinical aspect has only been performed for pediatric or juvenile patients in small case studies with a single phenotype or in retrospective studies [7][8][9].…”

Section: Introductionmentioning

confidence: 99%

Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study

Primiano

Mariotti

Turrini

et al. 2021

Life

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The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitochondrial diseases (e.g., stroke-like episodes, signal changes of the basal ganglia, cerebral and cerebellar atrophy) are well known, at present there are few data on the spinal-cord abnormalities in these pathologies, in particular in adult subjects. In this study, we present a cross-sectional cohort study on the prevalence and characterization of spinal-cord involvement in adult patients with genetically defined mitochondrial diseases.

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Cerebral imaging in adult mitochondrial disorders

Cited by 6 publications

References 58 publications

Biomarkers for Detecting Mitochondrial Disorders

Biomarkers for Detecting Mitochondrial Disorders

Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW

Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study

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