978 results match your criteria Metabolic Disease and Stroke - MELAS


[Management of patients with MELAS syndrome : A case report and general characteristics from an anesthesiological perspective].

Anaesthesist 2020 May 18. Epub 2020 May 18.

Klinik für Anästhesiologie, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.

Background: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare progressive disease with acute neurological episodes caused by a mitochondriopathy. Due to a defect of oxidative phosphorylation in the respiratory chain, there is impaired mitochondrial energy production with subsequent lactic acidosis, especially in situations with increased stress. Due to the high risk of metabolic derailment MELAS syndrome is a great challenge with respect to the perioperative management of anesthesia. Read More

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http://dx.doi.org/10.1007/s00101-020-00793-8DOI Listing

Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.

J Clin Med 2020 Mar 4;9(3). Epub 2020 Mar 4.

Biochemistry and Molecular Genetic Department, CHU Clermont-Ferrand, Faculty of Medicine, Université Clermont-Auvergne, CNRS 6293, INSERM 1103, GReD, 63000 Clermont-Ferrand, France.

Many inherited metabolic diseases (IMD) have cardiac manifestations. The aim of this study was to estimate the prevalence of IMD in adult patients with hypertrophic cardiomyopathy (HCM) and cardiac rhythm abnormalities that require cardiac implantable electronic devices (CIEDs). The study included a review of the medical files of patients aged 18 to 65 years who were followed in our cardiology department during the period 2010-2017. Read More

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http://dx.doi.org/10.3390/jcm9030694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141305PMC

Improved Dried Blood Spot-Based Metabolomics: A Targeted, Broad-Spectrum, Single-Injection Method.

Metabolites 2020 Feb 27;10(3). Epub 2020 Feb 27.

The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, CA 92103, USA.

Dried blood spots (DBS) have proven to be a powerful sampling and storage method for newborn screening and many other applications. However, DBS methods have not yet been optimized for broad-spectrum targeted metabolomic analysis. In this study, we developed a robust, DBS-based, broad-spectrum, targeted metabolomic method that was able to measure over 400 metabolites from a 6. Read More

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http://dx.doi.org/10.3390/metabo10030082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7143494PMC
February 2020

Therapeutic management of stroke-like episodes varies from that of encephalitis.

Authors:
Josef Finsterer

Medicine (Baltimore) 2020 Feb;99(8):e19141

Introduction: Stroke-like episodes (SLEs) are typical cerebral manifestations of certain mitochondrial disorders (MIDs). They are characterised by a vasogenic edema in a non-vascular distribution. PATIENTS CONCERNS:: none DIAGNOSIS:: SLEs show up on cerebral MRI as stroke-like lesions (SLLs), characterised by vasogenic edema in a non-vascular distribution. Read More

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http://dx.doi.org/10.1097/MD.0000000000019141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034643PMC
February 2020

Propofol infusion syndrome complicated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a case report.

Acute Med Surg 2020 Jan-Dec;7(1):e473. Epub 2019 Dec 4.

Emergency and Intensive Care Unit Shiga University of Medical Science Hospital Otsu Shiga Japan.

Background: Propofol infusion syndrome (PRIS) is a rare but lethal complication of propofol use. It has been suggested that the pathological mechanism of PRIS involves mitochondrial disorder caused by propofol.

Case Presentation: A 24-year-old woman who had been diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes was admitted to our hospital with impaired consciousness and myoclonus. Read More

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http://dx.doi.org/10.1002/ams2.473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6971469PMC
December 2019

Cerebrospinal-fluid ATP is inappropriate as a biomarker of disease severity and treatment response in MELAS.

Authors:
Josef Finsterer

Mitochondrion 2020 03 24;51:140-141. Epub 2019 Dec 24.

Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2019.12.006DOI Listing

Adult onset MELAS Syndrome Presenting as A Mimic of Herpes Simplex Encephalitis.

Acta Neurol Taiwan 2019 Jun;28(2):46-51

Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.

Purpose: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome primarily affects the young and may not be considered first in an older adult with infection-like encephalopathy. Here, we present the case of a patient who suffered from the acute onset of fever, delirium, and epilepsy, mimicking herpes simplex encephalitis (HSE).

Case Report: A 52-year-old woman with diabetes and end stage renal disease (ESRD) regularly took oral anti-diabetic drugs (OADs) and received hemodialysis. Read More

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RNA-seq profiling, and impaired autophagic process in skeletal muscle of MELAS.

Biochem Biophys Res Commun 2020 Feb 10;523(1):91-97. Epub 2019 Dec 10.

Department of Neurology, Peking University First Hospital, Beijing, China. Electronic address:

Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a common subtype of mitochondrial disease with high disability and mortality rate. The molecular mechanisms of MELAS are largely unknown and whether autophagy is activated in this disease remains controversial. In this work, we reported whole transcriptome profiling of skeletal muscle of MELAS patients and age-matched controls. Read More

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http://dx.doi.org/10.1016/j.bbrc.2019.12.005DOI Listing
February 2020

Pathogenicity of the variant m.13376 T > C in ND5 remains unproven.

Authors:
Josef Finsterer

J Neurol Sci 2020 02 5;409:116615. Epub 2019 Dec 5.

Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.116615DOI Listing
February 2020

An Unusual Cause of Stroke-Like Symptoms in an Elderly Patient.

Ann Acad Med Singapore 2019 Sep;48(9):306-309

Department of Diagnostic Imaging, National University Hospital, Singapore.

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September 2019
1.221 Impact Factor

THE ROLE OF HETEROPLASMY IN THE DIAGNOSIS AND MANAGEMENT OF MATERNALLY INHERITED DIABETES AND DEAFNESS.

Endocr Pract 2020 Feb 4;26(2):241-246. Epub 2019 Nov 4.

Maternally inherited diabetes and deafness (MIDD) is a rare diabetic syndrome mainly caused by a point mutation in the mitochondrial DNA (mtDNA), mt3243 adenine to guanine (A>G). The objective of this paper is to review the genetic inheritance, clinical manifestations, and treatment of patients with MIDD. The current review used a literature search of scientific papers on this rare syndrome. Read More

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http://dx.doi.org/10.4158/EP-2019-0270DOI Listing
February 2020

[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].

Zhonghua Er Ke Za Zhi 2019 Nov;57(11):844-851

Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy. Clinical data of 62 children who were clinically and genetically diagnosed with mitochondrial epilepsy by the Department of Neurology, Beijing Children's Hospital from October 2011 to December 2018 were analyzed retrospectively, and the control of epilepsy was followed up. test or χ(2) test were used to analyze the related factors affecting the prognosis of epilepsy between the effective group and the ineffective group. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2019.11.006DOI Listing
November 2019

Resolving complexity in mitochondrial disease: Towards precision medicine.

Mol Genet Metab 2019 Sep - Oct;128(1-2):19-29. Epub 2019 Sep 14.

Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

Mitochondrial diseases, caused by mutations in either the nuclear or mitochondrial genomes (mtDNA), are the most common form of inherited neurometabolic disorders. They are remarkably heterogeneous, both in their clinical presentation and genetic etiology, presenting challenges for diagnosis, clinical management and elucidation of molecular mechanism. The multifaceted nature of these diseases, compounded by the unique characteristics of mitochondrial genetics, cement their space in the field of complex disease. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.09.003DOI Listing

Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report.

J Med Case Rep 2019 Oct 21;13(1):313. Epub 2019 Oct 21.

Hidaka Tokushukai Hospital, 1-10-27 Shizunai Kose-cho, Shin-Hidaka-cho, Hokkaido, 056-0005, Japan.

Background: Maternally inherited diabetes and deafness, and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes are examples of mitochondrial diseases that are relatively common in the adult population. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes are assumed to be associated with decreases in arginine and citrulline. Biomarkers, such as growth differentiation factor-15, were developed to assist in the diagnosis of mitochondrial diseases. Read More

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http://dx.doi.org/10.1186/s13256-019-2255-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6802332PMC
October 2019
1 Read

Confirmation of stroke-like lesions on magnetic resonance imaging is a prerequisite for their histopathological assessment.

Authors:
Josef Finsterer

Neuropathology 2019 12 4;39(6):489-490. Epub 2019 Oct 4.

Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.

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http://dx.doi.org/10.1111/neup.12602DOI Listing
December 2019

Increased number of mitochondria in capillaries distributed in stroke-like lesions of two patients with MELAS.

Neuropathology 2019 Oct 13;39(5):404-410. Epub 2019 Aug 13.

Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Japan.

We investigated two autopsy cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) using immunohistochemical staining with an anti-mitochondrial antibody against translocase of the outer membrane 20 (TOMM20). In case 1, the patient was a 42-year-old man with a disease duration of 53 days, and in case 2, the patient was a 62-year-old woman with a disease duration of 27 months. In both the cases autopsy revealed moderate atrophy of the cerebrum and cerebellum and multifocal necrotizing lesions, irrespective of the vascular territory. Read More

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http://dx.doi.org/10.1111/neup.12593DOI Listing
October 2019
2 Reads

Exploring mTOR inhibition as treatment for mitochondrial disease.

Ann Clin Transl Neurol 2019 09 6;6(9):1877-1881. Epub 2019 Aug 6.

Department of Neurology, Columbia University Irving Medical Center, New York, New York, 10032.

Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity and neither have effective treatment. Inhibiting the mammalian target of rapamycin (mTOR) pathway has been shown in model mice of Leigh syndrome to extend lifespan and attenuate both the clinical and pathological progression of disease. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/acn3.50846
Publisher Site
http://dx.doi.org/10.1002/acn3.50846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764630PMC
September 2019
4 Reads

Apomorphine rescues reactive oxygen species-induced apoptosis of fibroblasts with mitochondrial disease.

Mitochondrion 2019 11 26;49:111-120. Epub 2019 Jul 26.

Department of Pediatrics, Jichi Medical University, Tochigi, Japan. Electronic address:

Mitochondrial disease is a genetic disorder in which individuals suffer from energy insufficiency. The various clinical phenotypes of mitochondrial disease include Leigh syndrome (LS), myopathy encephalopathy lactic acidosis and stroke-like episodes (MELAS). Thus far, no curative treatment is available, and effective treatment options are eagerly awaited. Read More

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http://dx.doi.org/10.1016/j.mito.2019.07.006DOI Listing
November 2019
4 Reads

Audiological and Vestibular Findings in Subjects with MELAS Syndrome.

J Int Adv Otol 2019 Aug;15(2):296-303

Department of Clinical Medicine, Aalborg University School of Medicine, Denmark;Research and Knowledge Center in Sensory Genetics, Aalborg University Hospital, Denmark.

Objectives: The mitochondrial DNA (mtDNA) point mutation m.3243A>G is known to express the following two syndromes among others: maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Sensorineural hearing loss (SNHL) is the most frequent symptom in individuals harboring the m. Read More

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http://dx.doi.org/10.5152/iao.2019.5913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6750775PMC
August 2019
3 Reads

Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease.

Brain Dev 2019 Nov 22;41(10):901-904. Epub 2019 Jul 22.

Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropediatrics, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Sozialpädiatrisches Zentrum, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), NeuroCure Clinical Research Center, Berlin, Germany. Electronic address:

MELAS-syndrome (mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with various presentations. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures, muscle weakness, recurrent headaches and vomiting, hearing impairment, and short stature. Uncommon clinical presentations like cerebral venous thrombosis, which is almost unprecedented for MELAS-syndrome, impede correct diagnosis. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.07.002DOI Listing
November 2019
3 Reads

Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases.

PLoS One 2019 25;14(7):e0219628. Epub 2019 Jul 25.

Department of Neurology, Peking University First Hospital, Beijing, China.

The study aimed to evaluate the body composition of patients with mitochondrial diseases (MD) and correlate it with disease severity. Overall, 89 patients (age ≥ 18 years) with MD were recruited, including 49 with chronic progressive external ophthalmoplegia (CPEO) and 40 with mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS). Body composition, including fat mass index (FMI), fat-free mass index (FFMI), skeletal muscle mass index (SMI), and appendicular skeletal muscle mass index (ASMI), were examined using multifrequency bioelectric impedance analysis. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0219628PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6657836PMC
February 2020
3 Reads

Mitochondrial Transfer of Wharton's Jelly Mesenchymal Stem Cells Eliminates Mutation Burden and Rescues Mitochondrial Bioenergetics in Rotenone-Stressed MELAS Fibroblasts.

Oxid Med Cell Longev 2019 22;2019:9537504. Epub 2019 May 22.

Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung 833, Taiwan.

Wharton's jelly mesenchymal stem cells (WJMSCs) transfer healthy mitochondria to cells harboring a mitochondrial DNA (mtDNA) defect. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the major subgroups of mitochondrial diseases, caused by the mt.3243A>G point mutation in the mitochondrial tRNALeu gene. Read More

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http://dx.doi.org/10.1155/2019/9537504DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556302PMC
December 2019
7 Reads

Mortality in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes does not depend on levetirazetam alone.

Authors:
Josef Finsterer

Chin Med J (Engl) 2019 06;132(12):1512

Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1097/CM9.0000000000000163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629319PMC
June 2019
12 Reads

The MELAS mutation m.3243A>G alters the expression of mitochondrial tRNA fragments.

Biochim Biophys Acta Mol Cell Res 2019 09 11;1866(9):1433-1449. Epub 2019 Jun 11.

RNA Modification and Mitochondrial Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Carrer d'Eduardo Primo Yúfera 3, Valencia 46012, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) node 721, Madrid 28029, Spain. Electronic address:

Recent evidences highlight the importance of mitochondria-nucleus communication for the clinical phenotype of oxidative phosphorylation (OXPHOS) diseases. However, the participation of small non-coding RNAs (sncRNAs) in this communication has been poorly explored. We asked whether OXPHOS dysfunction alters the production of a new class of sncRNAs, mitochondrial tRNA fragments (mt tRFs), and, if so, whether mt tRFs play a physiological role and their accumulation is controlled by the action of mt tRNA modification enzymes. Read More

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http://dx.doi.org/10.1016/j.bbamcr.2019.06.004DOI Listing
September 2019
5 Reads

Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C.

Brain Dev 2019 Oct 6;41(9):803-807. Epub 2019 Jun 6.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan. Electronic address:

An m.10158T>C mutation in MT-ND3, encoding a subunit of respiratory complex I, causes early-onset Leigh syndrome (LS), mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) syndrome, and LS and MELAS overlapping syndrome, presumably dependent on the ratio of heteroplasmy. Herein, we report a 4-year-old girl with heteroplasmic m. Read More

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http://dx.doi.org/10.1016/j.braindev.2019.05.006DOI Listing
October 2019
22 Reads

Evidence for laminar cortical necrosis as histological equivalent of a non-classical stroke-like lesion in an m.8344A>G carrier.

Authors:
Josef Finsterer

Neuropathology 2019 08 24;39(4):324-325. Epub 2019 May 24.

Department of Neurology, Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.

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http://dx.doi.org/10.1111/neup.12561DOI Listing
August 2019
3 Reads

Multiple mtDNA deletions due to mitochondrion toxicity of anti-hepadnaviral drugs: Comments to the letter from J. Finsterer.

Neuropathology 2019 08 21;39(4):326-327. Epub 2019 May 21.

Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

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http://dx.doi.org/10.1111/neup.12563DOI Listing
August 2019
5 Reads

Neuromuscular and Muscle Metabolic Functions in MELAS Before and After Resistance Training: A Case Study.

Front Physiol 2019 26;10:503. Epub 2019 Apr 26.

Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.

Mitochondrial encephalomyopathy, lactic acidosis, and recurrent stroke-like episodes syndrome (MELAS) is a rare degenerative disease. Recent studies have shown that resistant training (RT) can ameliorate muscular force in mitochondrial diseases. However, the effects of RT in MELAS are unknown. Read More

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http://dx.doi.org/10.3389/fphys.2019.00503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498991PMC
April 2019
11 Reads

Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report.

BMC Neurol 2019 May 8;19(1):91. Epub 2019 May 8.

Neurologic Clinic and Policlinic, Departments of Medicine, Clinical Research and Biomedical Engineering, University Hospital and University of Basel, Petersgraben 4, CH-4031, Basel, Switzerland.

Background: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial cytopathy caused by mutations in mitochondrial DNA. Clinical manifestation is typically before the age of 40.

Case Presentation: We present the case of a 63-year-old female in whom the symptoms of MELAS were initially misdiagnosed as episodes of recurrent ischemic strokes. Read More

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https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-
Publisher Site
http://dx.doi.org/10.1186/s12883-019-1306-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505262PMC
May 2019
29 Reads

Late-onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Presenting With Auditory Agnosia.

Neurologist 2019 May;24(3):90-92

Departments of Neurology.

Introduction: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystemic mitochondrial disorder that usually presents in childhood. Patients can have a wide array of neurological symptoms when presenting with stroke-like episodes, and imaging characteristics during the episodes can overlap with different neurological disorders.

Case Report: A 61-year-old woman presented with communication difficulties consistent with auditory agnosia and was found to have bitemporal abnormalities on imaging that first raised the concern for herpes simplex virus encephalitis. Read More

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http://dx.doi.org/10.1097/NRL.0000000000000229DOI Listing
May 2019
14 Reads

Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus.

Neuropathology 2019 Jun 10;39(3):212-217. Epub 2019 Apr 10.

Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.

We present an autopsied case with A8344G-mutated myoclonus epilepsy with ragged red fibers (MERRF)/mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus. A 16-year-old Japanese woman suddenly experienced repetitive consciousness disturbances with increased serum lactate and creatine kinase levels. Magnetic resonance imaging showed abnormal intensity of bilateral precentral gyrus. Read More

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http://dx.doi.org/10.1111/neup.12551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850640PMC
June 2019
7 Reads

[Ultrastructural and clinical findings of mitochondrial encephalomyopathy:report of 27 cases].

Zhonghua Bing Li Xue Za Zhi 2019 Apr;48(4):298-302

Beijing Neurosurgical Institute, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China.

To investigate the ultrastructural features of muscle in patients with mitochondrial encephalomyopathy for its diagnosis and differential diagnosis. The clinical data of 27 mitochondrial encephalomyopathy patients who underwent left or right biceps brachii muscle biopsy at Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University from July 2006 to August 2017 were analyzed retrospectively. The muscle biopsy specimens were examined underlight microscope and transmission electron microscope. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5807.2019.04.007DOI Listing
April 2019
21 Reads

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.

Front Immunol 2019 21;10:412. Epub 2019 Mar 21.

Section for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Mitochondrial diseases are caused by dysfunctions in mitochondrial metabolic pathways. MELAS syndrome is one of the most frequent mitochondrial disorders; it is characterized by encephalopathy, myopathy, lactic acidosis, and stroke-like episodes. Typically, it is associated with a point mutation with an adenine-to-guanine transition at position 3243 of the mitochondrial DNA (mtDNA; m. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437310PMC
March 2019
19 Reads

A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features.

J Neurol 2019 Jun 19;266(6):1459-1472. Epub 2019 Mar 19.

Department of Neurology, Kitasato University School of Medicine, 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa, 252-0374, Japan.

Objectives: To investigate a diversity of stroke-like episodes (SLEs) in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), and report a disseminated form of SLEs (D-SLEs) attributed to a cluster of disseminated small cortical lesions.

Methods: We retrospectively reviewed the clinical information of 27 MELAS patients seen at Kitasato University Hospital between January 1990 and April 2018. Among those, we selected 13 patients with m. Read More

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http://dx.doi.org/10.1007/s00415-019-09283-3DOI Listing
June 2019
6 Reads

Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report.

J Med Case Rep 2019 Mar 6;13(1):63. Epub 2019 Mar 6.

Department of Neurology, Bangur Institute of Neurosciences, IPGMER and SSKM Hospital, Kolkata, 700025, India.

Background: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes, the most common maternally inherited mitochondrial disease, can present with a wide range of neurological manifestations including both central and peripheral nervous system involvement. The most frequent genetic mutation reported in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome is A3243G in MT-TL1 gene. Stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature constitute the known presentations in this syndrome. Read More

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http://dx.doi.org/10.1186/s13256-018-1936-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402098PMC
March 2019
20 Reads

MELAS reflects a clinical concept with heterogeneous genetic background.

Arq Neuropsiquiatr 2019 02;77(2):142-143

University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia.

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http://dx.doi.org/10.1590/0004-282X20190003DOI Listing
February 2019
3 Reads

[Genetic causes of stroke in young patients].

Zh Nevrol Psikhiatr Im S S Korsakova 2019;119(1):102-109

Vladimirsky Moscow Regional Research and Clinical Institute, Moscow, Russia.

The paper addresses genetic causes of stroke: MELAS, antiphospholipid syndrome, CADASIL, Fabry disease. The etiology and pathogenesis, symptoms, diagnosis, treatment methods of these diseases are described. Read More

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http://dx.doi.org/10.17116/jnevro2019119011102DOI Listing
June 2019
16 Reads

MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNA gene.

Brain Dev 2019 May 7;41(5):465-469. Epub 2019 Feb 7.

Department of Pediatrics, Jichi Medical University, Japan. Electronic address:

Mutations in the mitochondrial tRNA gene have been reported in only five patients to date, all of whom presented with muscle weakness and exercise intolerance as signs of myopathy. We herein report the case of a 12-year-old girl with focal epilepsy since the age of eight years. At age 11, the patient developed sudden visual disturbances and headaches accompanied by recurrent, stroke-like episodes with lactic acidosis (pH 7. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183059
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http://dx.doi.org/10.1016/j.braindev.2019.01.006DOI Listing
May 2019
12 Reads

The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.

Mol Genet Metab 2019 04 25;126(4):429-438. Epub 2019 Jan 25.

Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA. Electronic address:

In this study, we report the metabolic consequences of the m.1630 A > G variant in fibroblasts from the symptomatic proband affected with the mitochondrial encephalomyopathy lactic acidosis and stroke-like episode Syndrome and her asymptomatic mother. By long-range PCR followed by massively parallel sequencing of the mitochondrial genome, we accurately measured heteroplasmy in fibroblasts from the proband (89. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.01.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773428PMC
April 2019
23 Reads

White matter connection's damage, not cortical activation, leading to language dysfunction of mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes.

Chin Med J (Engl) 2019 Mar;132(5):597-599

Department of Neurology, Beijing Tiantan Hospital, Capital Medical University China National Clinical Research Center for Neurological Diseases Center of Stroke, Beijing Institute for Brain Disorders Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease.

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http://dx.doi.org/10.1097/CM9.0000000000000105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416003PMC
March 2019
6 Reads

Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.

Doc Ophthalmol 2019 04 30;138(2):147-152. Epub 2019 Jan 30.

Mental Retardation and Birth Defect Research, National Institute of Neurology and Psychiatry, National Center of Neurology and Psychiatry, Tokyo, Japan.

Purpose: Mitochondrial encephalopathy with lactic acid and stroke-like episodes (MELAS) is caused by mutations in the mitochondrial DNA. Approximately 80% of MELAS patients have an A > G transition mutation at nucleotide pair 3243 in the mitochondrial DNA, m.3243A > G. Read More

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http://dx.doi.org/10.1007/s10633-019-09673-yDOI Listing
April 2019
5 Reads
1.108 Impact Factor

Levetiracetam administration is correlated with lower mortality in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: a retrospective study.

Chin Med J (Engl) 2019 Feb;132(3):269-274

Department of Neurology, Peking University First Hospital, Beijing 100034, China.

Background: Studies on the relationship between antiepileptic drug (AED) administration and clinical outcomes in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) remain scarce. Levetiracetam (LEV) is an AED that is neuroprotective in various neurologic disorders. This study aimed to determine the impact of LEV on the outcome of MELAS. Read More

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http://dx.doi.org/10.1097/CM9.0000000000000061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6595817PMC
February 2019
3 Reads

Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease.

Cells 2019 01 17;8(1). Epub 2019 Jan 17.

Department of Neurosurgery, Mackay Memorial Hospital, Taipei 10449, Taiwan.

Dysfunction of mitochondria causes defects in oxidative phosphorylation system (OXPHOS) and increased production of reactive oxygen species (ROS) triggering the activation of the cell death pathway that underlies the pathogenesis of aging and various diseases. The process of autophagy to degrade damaged cytoplasmic components as well as dysfunctional mitochondria is essential for ensuring cell survival. We analyzed the role of autophagy inpatient-specific induced pluripotent stem (iPS) cells generated from fibroblasts of patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) with well-characterized mitochondrial DNA mutations and distinct OXPHOS defects. Read More

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http://www.mdpi.com/2073-4409/8/1/65
Publisher Site
http://dx.doi.org/10.3390/cells8010065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356288PMC
January 2019
32 Reads

[Mitochondrial diseases].

Nervenarzt 2019 Feb;90(2):121-130

Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik, Klinikum der Universität München, Ziemssenstr. 1, 80336, München, Deutschland.

Mitochondrial diseases (MD) are caused by mutations in the mitochondrial DNA or nuclear DNA. The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Read More

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http://dx.doi.org/10.1007/s00115-018-0666-2DOI Listing
February 2019
12 Reads

MELAS and macroangiopathy: A case report and literature review.

Medicine (Baltimore) 2018 Dec;97(52):e13866

Rationale: Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are thought to be rarely accompanied by macroangiopathy. We reported a case of MELAS that presented right distal internal carotid arterial (ICA) stenosis and reviewed 12 similar previously reported cases involving intracranial large blood vessels.

Patient Concerns: A 38-year-old man suffered from recurrent stroke-like episodes (SE) such as alternating hemiparesis (right lesion 3 years ago and current left lesion), cortical blindness and seizure for 3 years, and was previously misdiagnosed as cerebral infarction. Read More

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http://dx.doi.org/10.1097/MD.0000000000013866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314712PMC
December 2018
38 Reads

The "Toenail Sign" in MELAS May Be the End Stage of a Stroke-like Lesion.

Authors:
Josef Finsterer

Pediatr Neurol 2019 04 23;93:67. Epub 2018 Nov 23.

Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Vienna. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.11.008DOI Listing
April 2019
5 Reads

Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness.

Adv Exp Med Biol 2018;1085:163-165

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Patients with maternally inherited diabetes and deafness (MIDD) have insulin-dependent diabetes with relatively low BMI; usually the onset of the diabetes is during the third or fourth decade of life and it is associated with progressive neurosensory deafness. The fundus shows circumferentially oriented but discontinuous patches of RPE and choriocapillaris (CC) atrophy around the macula, within the arcades (Figs. 31. Read More

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http://link.springer.com/10.1007/978-3-319-95046-4_31
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http://dx.doi.org/10.1007/978-3-319-95046-4_31DOI Listing
July 2019
25 Reads

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes in an older adult mimicking cerebral infarction: a Chinese case report.

Clin Interv Aging 2018 27;13:2421-2424. Epub 2018 Nov 27.

Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China,

Few cases of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) with an onset older than 60 years have been reported. Herein, we report a 63-year-old Chinese female initially suspected of ischemic infarction but was ultimately diagnosed with MELAS. Therefore, even in the elderly, a diagnosis of MELAS should be considered when encountering patients with recurrent stroke-like episodes, cognitive dysfunction, and psychotic symptoms. Read More

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https://www.dovepress.com/mitochondrial-encephalomyopathy-wi
Publisher Site
http://dx.doi.org/10.2147/CIA.S186636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267726PMC
January 2019
31 Reads

The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.

Yonsei Med J 2019 Jan;60(1):98-105

Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

Purpose: The disease entity mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by an early onset of stroke-like episodes. MELAS is the most dominant subtype of mitochondrial disease. Molecular genetic testing is important in the diagnosis of MELAS. Read More

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http://dx.doi.org/10.3349/ymj.2019.60.1.98DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298893PMC
January 2019
38 Reads