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Controversies and priorities in amyotrophic lateral sclerosis
Turner MR, Hardiman O, Benatar M, Brooks BR, Chio A, de Carvalho M, Ince PG, Lin C et al.. The Lancet. Neurology, 2013-03-01
Topic: Brain proteins, microglia and lab models
Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS) cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial proportion of the remainder of cases of familial ALS have now been traced to an expansion of the intronic hexanucleotide repeat sequence in C9orf72. This breakthrough provides an opportunity to re-evaluate longstanding concepts regarding the cause and natural history of ALS, coming soon after the pathological unification of ALS with frontotemporal dementia through a shared pathological signature of cytoplasmic inclusions of the ubiquitinated protein TDP-43. However, with profound clinical, prognostic, neuropathological, and now genetic heterogeneity, the concept of ALS as one disease appears increasingly untenable. This background calls for the development of a more sophisticated taxonomy, and an appreciation of ALS as the breakdown of a wider network rather than a discrete vulnerable population of specialised motor neurons. Identification of C9orf72 repeat expansions in patients without a family history of ALS challenges the traditional division between familial and sporadic disease. By contrast, the 90% of apparently sporadic cases and incomplete penetrance of several genes linked to familial cases suggest that at least some forms of ALS arise from the interplay of multiple genes, poorly understood developmental, environmental, and age-related factors, as well as stochastic events.
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APA 7th
Turner, M. R., Hardiman, O., Benatar, M., Brooks, B. R., Chio, A., de Carvalho, M., et al. (2013). Controversies and priorities in amyotrophic lateral sclerosis. The Lancet. Neurology. https://doi.org/10.1016/s1474-4422(13)70036-x
Vancouver
Turner MR, Hardiman O, Benatar M, Brooks BR, Chio A, de Carvalho M, et al. Controversies and priorities in amyotrophic lateral sclerosis. The Lancet. Neurology. 2013. doi:10.1016/s1474-4422(13)70036-x. PMID: 23415570.
BibTeX
@article{turner2013-23415570,
author = {Turner, M. R. and Hardiman, O. and Benatar, M. and Brooks, B. R. and Chio, A. and de Carvalho, M. and Ince, P. G. and Lin, C. and others},
title = {{Controversies and priorities in amyotrophic lateral sclerosis}},
journal = {The Lancet. Neurology},
year = {2013},
doi = {10.1016/s1474-4422(13)70036-x},
pmid = {23415570},
url = {https://doi.org/10.1016/s1474-4422(13)70036-x}
}
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's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
Key findings
- By contrast, the 90% of apparently sporadic cases and incomplete penetrance of several genes linked to familial cases suggest that at least some forms of ALS arise from the interplay of multiple genes, poorly understood developmental, environmental, and age-related factors, as well as stochastic events.
Why it matters
This review discusses how the C9orf72 repeat expansion and shared TDP-43 pathology link ALS and frontotemporal dementia, and how genetic heterogeneity challenges the idea of ALS as one disease. It is a discussion of disease concepts and does not report a treatment or cure.
Study details
- Evidence strengthLow
How this study scored 56/100
Published in a leading specialty journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (The Lancet. Neurology) |
| Journal's citation record | 3 / 4 | The Lancet Neurology: journal h-index 457 (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 | 2013 — within 20 year(s) of the newest study here |
| 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 | 6 / 7 | Cited 541 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 36.1 citations a year over 15 year(s) since 2013 |
| Impact for its field and year | 6 / 6 | Cited 40.9× 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 | 3 / 4 | Cited 58 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Matthew C. Kiernan: h-index 105 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | National Institutes of Health: institution h-index 2,723 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 20 institution(s) in 7 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 23415570) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 56 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1016/s1474-4422(13)70036-x
- PubMed: 23415570
- Original source →
- Free full text: PubMed Central →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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