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The phenotypic variability of amyotrophic lateral sclerosis
Swinnen B, Robberecht W.. Nature reviews. Neurology, 2014-10-14
Topic: Brain proteins, microglia and lab models
Classic textbook neurology teaches that amyotrophic lateral sclerosis (ALS) is a degenerative disease that selectively affects upper and lower motor neurons and is fatal 3-5 years after onset--a description which suggests that the clinical presentation of ALS is very homogenous. However, clinical and postmortem observations, as well as genetic studies, demonstrate that there is considerable variability in the phenotypic expression of ALS. Here, we review the phenotypic variability of ALS and how it is reflected in familial and sporadic ALS, in the degree of upper and lower motor neuron involvement, in motor and extramotor involvement, and in the spectrum of ALS and frontotemporal dementia. Furthermore, we discuss some unusual clinical characteristics regarding presentation, age at onset and disease progression. Finally, we address the importance of this variability for understanding the pathogenesis of ALS and for the development of therapeutic strategies.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Swinnen, B., & Robberecht, W. (2014). The phenotypic variability of amyotrophic lateral sclerosis. Nature reviews. Neurology. https://doi.org/10.1038/nrneurol.2014.184
Vancouver
Swinnen B, Robberecht W. The phenotypic variability of amyotrophic lateral sclerosis. Nature reviews. Neurology. 2014. doi:10.1038/nrneurol.2014.184. PMID: 25311585.
BibTeX
@article{swinnen2014-25311585,
author = {Swinnen, B. and Robberecht, W.},
title = {{The phenotypic variability of amyotrophic lateral sclerosis}},
journal = {Nature reviews. Neurology},
year = {2014},
doi = {10.1038/nrneurol.2014.184},
pmid = {25311585},
url = {https://doi.org/10.1038/nrneurol.2014.184}
}
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Key findings
- Classic textbook neurology teaches that amyotrophic lateral sclerosis (ALS) is a degenerative disease that selectively affects upper and lower motor neurons and is fatal 3-5 years after onset--a description which suggests that the clinical presentation of ALS is very homogenous.
Why it matters
This review describes the considerable variability in how ALS presents, including motor and extramotor involvement and overlap with frontotemporal dementia. It discusses implications for understanding the disease and developing therapies but reports no treatment or cure.
Study details
- Evidence strengthLow
How this study scored 46/100
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.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Nature reviews. Neurology) |
| Journal's citation record | 3 / 4 | Nature Reviews Neurology: journal h-index 269 (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 | 2014 — 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 606 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 43.3 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 3 / 6 | Cited 5.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 7 other studies in this library |
| Still being cited | 3 / 4 | Cited 130 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Wim Robberecht: h-index 82 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | KU Leuven: institution h-index 1,386 (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 25311585) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 46 / 100 | — |
What each of these 20 components measures, and what this score is not →
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