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Melas: an original case and clinical criteria for diagnosis
Hirano M, Ricci E, Koenigsberger MR, Defendini R, Pavlakis SG, DeVivo DC, DiMauro S, Rowland LP.. Neuromuscular disorders : NMD, 1992-01-01
Topic: Risk, prevention and care in population studies
We describe the full history and postmortem findings in one of the first identified cases of mitochondrial encephalomyopathy with stroke-like episodes (MELAS). To clarify diagnostic criteria, we analyzed 69 reported cases. The syndrome should be suspected by the following three invariant criteria: (1) stroke-like episode before age 40 yr; (2) encephalopathy characterized by seizures, dementia, or both; and (3) lactic acidosis, ragged-red fibers (RRF), or both. The diagnosis may be considered secure if there are also at least two of the following: normal early development, recurrent headache, or recurrent vomiting. There are incomplete syndromes in relatives of patients with the full syndrome and incomplete syndromes might also be encountered in sporadic cases. Some MELAS patients have features of the Kearns-Sayre syndrome (KSS) or myoclonic epilepsy with ragged-red fibers (MERRF), but none had the full KSS syndrome. In partial or confusing cases, analysis of mitochondrial DNA (mtDNA) may point to the correct diagnosis; however, not all patients with clinical MELAS have had the typical mtDNA point mutation and some patients with the mutation have clinical syndromes other than MELAS.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Hirano, M., Ricci, E., Koenigsberger, M. R., Defendini, R., Pavlakis, S. G., DeVivo, D. C., et al. (1992). Melas: an original case and clinical criteria for diagnosis. Neuromuscular disorders : NMD. https://doi.org/10.1016/0960-8966(92)90045-8
Vancouver
Hirano M, Ricci E, Koenigsberger MR, Defendini R, Pavlakis SG, DeVivo DC, et al. Melas: an original case and clinical criteria for diagnosis. Neuromuscular disorders : NMD. 1992. doi:10.1016/0960-8966(92)90045-8. PMID: 1422200.
BibTeX
@article{hirano1992-1422200,
author = {Hirano, M. and Ricci, E. and Koenigsberger, M. R. and Defendini, R. and Pavlakis, S. G. and DeVivo, D. C. and DiMauro, S. and Rowland, L. P.},
title = {{Melas: an original case and clinical criteria for diagnosis}},
journal = {Neuromuscular disorders : NMD},
year = {1992},
doi = {10.1016/0960-8966(92)90045-8},
pmid = {1422200},
url = {https://doi.org/10.1016/0960-8966(92)90045-8}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record names 8 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
Key findings
- The syndrome should be suspected by the following three invariant criteria: (1) stroke-like episode before age 40 yr; (2) encephalopathy characterized by seizures, dementia, or both; and (3) lactic acidosis, ragged-red fibers (RRF), or both.
- The diagnosis may be considered secure if there are also at least two of the following: normal early development, recurrent headache, or recurrent vomiting.
- There are incomplete syndromes in relatives of patients with the full syndrome and incomplete syndromes might also be encountered in sporadic cases.
- Some MELAS patients have features of the Kearns-Sayre syndrome (KSS) or myoclonic epilepsy with ragged-red fibers (MERRF), but none had the full KSS syndrome.
- In partial or confusing cases, analysis of mitochondrial DNA (mtDNA) may point to the correct diagnosis; however, not all patients with clinical MELAS have had the typical mtDNA point mutation and some patients with the mutation have clinical syndromes other than MELAS.
Why it matters
This paper describes diagnostic criteria for mitochondrial encephalomyopathy with stroke-like episodes, a syndrome that can include dementia. It notes that not all patients with clinical MELAS have the typical mitochondrial DNA point mutation and some patients with the mutation have other clinical syndromes.
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Study details
- Participants69
- Evidence strengthLow
How this study scored 47/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neuromuscular disorders : NMD) |
| Journal's citation record | 1 / 4 | Neuromuscular Disorders: journal h-index 139 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 1992 — older than 20 years, still counted |
| Sample size | 1 / 4 | 69 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 417 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 11.6 citations a year over 36 year(s) since 1992 |
| Impact for its field and year | 3 / 6 | Cited 3.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 1 / 6 | Cited by 2 other studies in this library |
| Still being cited | 2 / 4 | Cited 46 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Lewis P. Rowland: h-index 78 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Columbia University: institution h-index 1,824 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 1422200) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 47 / 100 | — |
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