Evidence map›Paper›PMID 35606253›Full record

ReviewMolecular genetics and metabolism2022

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, Richard Haas, Douglas Kerr, Russell P Saneto, Bruce H Cohen, Johan L K Van Hove, Fernando Scaglia, Charles Hoppel and 7 more

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

Review in Molecular genetics and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Cardiac magnetic resonance findings in mitochondrial disease: a guide for clinicians.European heart journal. Imaging methods and practice · 2025
    Review
  5. Article
  6. Review
  7. Observational
  8. Article
  9. Article
  10. Article
  11. Article
  12. Progressive external ophthalmoplegia.Handbook of clinical neurology · 2023
    Review
  13. Article
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

17 authors.

Valentina EmmanueleDepartment of Neurology, Columbia University Medical Center, New York, NY, USA.
Jaya GaneshDivision of Genetics, Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
Georgirene VladutiuDepartments of Pediatrics, Neurology, and Pathology and Anatomical Sciences, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, USA.
Richard HaasDepartments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, CA, USA.
Douglas KerrDepartment of Pediatrics, Case Western Reserve University, Cleveland, OH, USA.
Russell P SanetoDepartment of Neurology, Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, WA, USA.
Bruce H CohenDepartment of Pediatrics, Children's Hospital Medical Center of Akron and Northeast Ohio Medical University, Akron, OH, USA.
Johan L K Van HoveDepartment of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA.
Fernando ScagliaDepartment of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, Hong Kong Special Administrative Region.
Charles HoppelCenter for Mitochondrial Disease, School of Medicine, Case Western Reserve University, Cleveland, OH, United States of America.
Xiomara Q RosalesDepartment of Neurology, Columbia University Medical Center, New York, NY, USA.
Emanuele BarcaDepartment of Neurology, Columbia University Medical Center, New York, NY, USA.
Richard BuchsbaumDepartment of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, United States.
John L ThompsonDepartment of Neurology, Columbia University Medical Center, New York, NY, USA; Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, United States.
Salvatore DiMauroDepartment of Neurology, Columbia University Medical Center, New York, NY, USA.
Michio HiranoDepartment of Neurology, Columbia University Medical Center, New York, NY, USA. Electronic address: mh29@columbia.edu.
North American Mitochondrial Disease Consortium (NAMDC)

Funding

The North American Mitochondrial Disease Consortium (NAMDC)U54NS078059 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HIRANO, MICHIO · 2011 to 2023
$17.5M
NINDS NIH HHS U54 NS078059
6 · The paper itself

Abstract

objectiveTo harmonize terminology in mitochondrial medicine, we propose revised clinical criteria for primary mitochondrial syndromes.

methodsThe North American Mitochondrial Disease Consortium (NAMDC) established a Diagnostic Criteria Committee comprised of members with diverse expertise. It included clinicians, researchers, diagnostic laboratory directors, statisticians, and data managers. The Committee conducted a comprehensive literature review, an evaluation of current clinical practices and diagnostic modalities, surveys, and teleconferences to reach consensus on syndrome definitions for mitochondrial diseases. The criteria were refined after manual application to patients enrolled in the NAMDC Registry.

resultsBy building upon published diagnostic criteria and integrating recent advances, NAMDC has generated updated consensus criteria for the clinical definition of classical mitochondrial syndromes.

conclusionsMitochondrial diseases are clinically, biochemically, and genetically heterogeneous and therefore challenging to classify and diagnose. To harmonize terminology, we propose revised criteria for the clinical definition of mitochondrial disorders. These criteria are expected to standardize the diagnosis and categorization of mitochondrial diseases, which will facilitate future natural history studies and clinical trials.

Indexed as

Mitochondrial DiseasesHumansNorth AmericaRegistriesSyndromeMitochondrial diseaseMitochondrial disordersMitochondrial DNAOxidative-phosphorylation

Identifiers

PMID35606253
PMCPMC9341219

What OpenQuestion holds

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Registered trials

None linked

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 OpenQuestion graph.