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[Progressive myoclonic epilepsy]
Sørensen Tt, Kjeldsen Mj, ML Friis. Ugeskrift for laeger, 1996-01-08
Topic: Risk, prevention and care in population studies
Progressive myoclonic epilepsy (PME) is a syndrome characterized by myoclonias, epilepsy, progressive dementia and other neurological deficits. PME may be caused by various, rare, incompletely elucidated genetic diseases, and is characterized by age at onset, duration, clinical and pathoanatomical abnormalities. There is ethnic and geographic variation in the frequency of the syndrome. The diseases are frequently autosomal recessive. Research in PME leads to a better understanding of the neurobiological processes of epilepsy. PME should be considered in cases of severe myoclonic epilepsy, progressive neurological disability and poor effect of antiepileptic treatment, and biopsies from skin, mucosa or muscle should be performed. Centralization of treatment of these rare diseases is recommended.
Key findings
- There is ethnic and geographic variation in the frequency of the syndrome.
- The diseases are frequently autosomal recessive.
- Research in PME leads to a better understanding of the neurobiological processes of epilepsy.
- PME should be considered in cases of severe myoclonic epilepsy, progressive neurological disability and poor effect of antiepileptic treatment, and biopsies from skin, mucosa or muscle should be performed.
- Centralization of treatment of these rare diseases is recommended.
Why it matters
This paper describes progressive myoclonic epilepsy, a rare syndrome that includes progressive dementia along with myoclonias and epilepsy, often caused by inherited genetic diseases. It recommends considering this diagnosis in severe cases and centralizing treatment, but does not report a treatment or cure for Alzheimer's disease.
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Study details
- Evidence strengthLow
How this study scored 23/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on journal's citation record and senior author's track record, so those were left out: it earned 21 of the 92 points we could judge it on, which is 23 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Ugeskrift for laeger) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 1996 — older than 20 years, still counted |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 0 / 7 | Cited 0 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.0 citations a year over 32 year(s) since 1996 |
| Impact for its field and year | 0 / 6 | Cited 0.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 0 / 4 | Cited 0 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | — / 4 | OpenAlex's profile for last-listed author ML Friis holds only 2 work(s), too few to judge a track record — left out of this score |
| Institution's track record | 0 / 3 | Odense University Hospital: institution h-index 499 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 8553486) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 21 / 92 | Scored on 18 of 20 parts. We have no data for the rest, so they are left out: 21 of the 92 points we could judge it on is 23 out of 100. |
| Total | 23 / 100 | — |
What each of these 20 components measures, and what this score is not →
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. This record has no DOI, so the citation leaves it out. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Tt, S., Mj, K., & Friis, M. L. (1996). [Progressive myoclonic epilepsy]. Ugeskrift for laeger.
Vancouver
Tt S, Mj K, Friis ML. [Progressive myoclonic epilepsy]. Ugeskrift for laeger. 1996. PMID: 8553486.
BibTeX
@article{tt1996-8553486,
author = {Tt, Sørensen and Mj, Kjeldsen and Friis, ML},
title = {{[Progressive myoclonic epilepsy]}},
journal = {Ugeskrift for laeger},
year = {1996},
pmid = {8553486}
}