Evidence map›Paper›PMID 41999163›Full record

ArticleEuropean journal of neurology2026

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Michelangelo Mancuso, Marcello Bellusci, Valerio Carelli, Irenaeus de Coo, Daria Diodato, Felix Distelmaier, Omar Hikmat, Michio Hirano, Rita Horvath, Amel Karaa and 17 more

Abstract readConsensus Statement
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors.

Michelangelo MancusoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
Marcello BellusciReference Center for Inherited Metabolic Disorders MetabERN, Mitochondrial Disorders Research Group (imas12), '12 de Octubre' University Hospital, Madrid, Spain.
Valerio CarelliIRCCS Istituto Delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.
Irenaeus de CooMental Health and Neuroscience Research Institute, Graduate School MHeNS, Department Translational Genomics, Maastricht University, Maastricht, the Netherlands.
Daria DiodatoUnit of Muscular and Neurodegenerative Diseases, Children Hospital Bambino Gesù, Rome, Italy.
Felix DistelmaierUniversity Children's Hospital, Düsseldorf, Germany.ORCID https://orcid.org/0000-0003-4304-7848
Omar HikmatDepartment of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, Norway.
Michio HiranoH. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center, New York, USA.
Rita HorvathDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.ORCID https://orcid.org/0000-0002-9841-170X
Amel KaraaDivision of Genetics, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA.
Thomas KlopstockDepartment of Neurology, Friedrich-Baur-Institute, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Mary Kay KoenigDepartment of Pediatrics, Division of Child & Adolescent Neurology, University of Texas McGovern Medical School, Houston, Texas, USA.
Cornelia KornblumDepartment of Neuromuscular Diseases, Center for Neurology, University Hospital Bonn, Bonn, Germany.
Chiara La MorgiaDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Piervito LoprioreDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
Mika Henrik MartikainenResearch Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
Robert McFarlandMitochondrial Research Group Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Olimpia MusumeciDepartment of Clinical and Experimental Medicine, Unit of Neurology and Neuromuscular Disorders, University of Messina, Messina, Italy.
Robert D S PitceathlyCentre for Neuromuscular Diseases, Department of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London, UK.
Guido PrimianoDipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0001-7616-7008
Shamima RahmanMitochondrial Research Group, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.ORCID https://orcid.org/0000-0003-2088-730X
Fernando ScagliaDepartment of Molecular and Human Genetics, Baylor College of Medicine/Texas Children's Hospital, Houston, Texas, USA.ORCID https://orcid.org/0000-0003-3502-8460
Andrew SchaeferNHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Manuel SchiffReference Center for Mitochondrial Disorders (CARAMMEL) and Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, Assistance Publique-Hôpitaux de Paris, University of Paris-Cité, Paris, France.ORCID https://orcid.org/0000-0001-8272-232X
Luisa SemmlerDepartment of Neurology, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.
Costanza LampertiFondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.
Serenella ServideiDipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Funding

european reference network neuromuscular diseases (ERN EURO_NMD) EU4Health programme 2021-2027
6 · The paper itself

Abstract

background and purposeMitochondrial Encephalomyopathy, Lactic acidosis and Stroke-like episodes (MELAS) is a rare multisystem mitochondrial disorder with clinical heterogeneity. Diagnostic criteria and management strategies for MELAS and mitochondrial stroke-like episodes (SLE) remain inconsistent. This work provides international consensus recommendations on the definition, diagnosis, and management of MELAS and SLE in pediatric and adult populations.

methodsAn international Delphi consensus process was conducted within the European Reference Network for Neuromuscular Diseases (ERN EURO-NMD), in collaboration with the US Mitochondrial Medicine Society, the ERN for Hereditary Metabolic Disorders (MetabERN), and patient representatives. Following a systematic literature review, 54 statements addressing diagnostic definitions and management of MELAS were evaluated. Statements not reaching consensus were revised and re-evaluated during a face-to-face meeting.

resultsConsensus supported defining MELAS as a clinical syndrome characterized by one or more SLE in the context of mitochondrial dysfunction caused by a pathogenic mitochondrial DNA variant, particularly m.3243A>G in MT-TL1. The use of terms such as "MELAS-like" or "MELAS spectrum" was discouraged. The panel agreed that the efficacy of L-arginine, L-taurine, L-citrulline, coenzyme Q

conclusionsThis international consensus provides updated definitions and practical guidance for the diagnosis and management of MELAS and SLE, aiming to harmonize clinical practice and inform future evidence-based research.

Indexed as

MELAS SyndromeHumansconsensusdiagnostic criteriamanagementMELASprimary mitochondrial diseasesrecommendations

Identifiers

PMID41999163
PMCPMC13090769

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.