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Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications
Moens TG, Da Cruz S, Neumann M, Shelkovnikova TA, Shneider NA, Van Den Bosch L.. The Lancet. Neurology, 2025-02-01
Topic: Brain proteins, microglia and lab models
Autosomal dominant mutations in the gene encoding the DNA and RNA binding protein FUS are a cause of amyotrophic lateral sclerosis (ALS), and about 0·3-0·9% of patients with ALS are FUS mutation carriers. FUS-mutation-associated ALS (FUS-ALS) is characterised by early onset and rapid progression, compared with other forms of ALS. However, different pathogenic mutations in FUS can result in markedly different age at symptom onset and rate of disease progression. Most FUS mutations disrupt its nuclear localisation, leading to its cytoplasmic accumulation in the CNS. FUS also forms inclusions in around 5% of patients with the related neurodegenerative condition frontotemporal dementia. However, there are key differences between the two diseases at the genetic and neuropathological level, which suggest distinct pathogenic processes. Experimental models have uncovered potential pathogenic mechanisms in FUS-ALS and informed therapeutic strategies that are currently in development, including the silencing of FUS expression using an intrathecally administered antisense oligonucleotide.
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APA 7th
Moens, T. G., Da Cruz, S., Neumann, M., Shelkovnikova, T. A., Shneider, N. A., & Van Den Bosch, L. (2025). Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications. The Lancet. Neurology. https://doi.org/10.1016/s1474-4422(24)00517-9
Vancouver
Moens TG, Da Cruz S, Neumann M, Shelkovnikova TA, Shneider NA, Van Den Bosch L. Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications. The Lancet. Neurology. 2025. doi:10.1016/s1474-4422(24)00517-9. PMID: 39862884.
BibTeX
@article{moens2025-39862884,
author = {Moens, T. G. and Da Cruz, S. and Neumann, M. and Shelkovnikova, T. A. and Shneider, N. A. and Van Den Bosch, L.},
title = {{Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications}},
journal = {The Lancet. Neurology},
year = {2025},
doi = {10.1016/s1474-4422(24)00517-9},
pmid = {39862884},
url = {https://doi.org/10.1016/s1474-4422(24)00517-9}
}
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Key findings
- FUS-mutation-associated ALS (FUS-ALS) is characterised by early onset and rapid progression, compared with other forms of ALS.
- However, different pathogenic mutations in FUS can result in markedly different age at symptom onset and rate of disease progression.
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Study details
- Evidence strengthLow
How this study scored 45/100
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. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 26 of the 58 points we could judge it on, which is 45 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (The Lancet. Neurology) |
| 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 | 4 / 5 | 2025 — within 3 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 | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 39862884) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 26 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 26 of the 58 points we could judge it on is 45 out of 100. |
| Total | 45 / 100 | — |
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