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Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)
Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA et al.. PloS one, 2010-03-24
Topic: Brain proteins, microglia and lab models
Background Amyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3-10% of patients. A mutation in CHMP2B was recently identified in a Danish pedigree with autosomal dominant FTD. Subsequently, two unrelated patients with familial ALS, one of whom also showed features of FTD, were shown to carry missense mutations in CHMP2B.
Key findings
- A mutation in CHMP2B was recently identified in a Danish pedigree with autosomal dominant FTD.
- Subsequently, two unrelated patients with familial ALS, one of whom also showed features of FTD, were shown to carry missense mutations in CHMP2B.
- The initial aim of this study was to determine whether mutations in CHMP2B contribute more broadly to ALS pathogenesis.
- Methodology/principal findings Sequencing of CHMP2B in 433 ALS cases from the North of England identified 4 cases carrying 3 missense mutations, including one novel mutation, p.Thr104Asn, none of which were present in 500 neurologically normal controls.
Why it matters
This study sequenced the CHMP2B gene in 433 ALS cases and found 4 cases carrying 3 missense mutations, following earlier reports of CHMP2B mutations in a family with frontotemporal dementia and in two familial ALS patients. It concerns ALS and frontotemporal dementia genetics, not the treatment, cure or prevention of Alzheimer's disease.
Study details
- Evidence strengthLow
How this study scored 49/100
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 (PloS one) |
| Journal's citation record | 4 / 4 | PLoS ONE: journal h-index 594 (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 | 2010 — 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 | 5 / 7 | Cited 262 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 14.6 citations a year over 18 year(s) since 2010 |
| Impact for its field and year | 4 / 6 | Cited 13.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 5 other studies in this library |
| Still being cited | 2 / 4 | Cited 26 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Pamela J. Shaw: h-index 116 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Birmingham: institution h-index 1,266 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 20352044) |
| Free to read | 2 / 2 | Free to read |
| Total | 49 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
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.
APA 7th
Cox, L. E., Ferraiuolo, L., Goodall, E. F., Heath, P. R., Higginbottom, A., Mortiboys, H., et al. (2010). Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PloS one. https://doi.org/10.1371/journal.pone.0009872
Vancouver
Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, et al. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PloS one. 2010. doi:10.1371/journal.pone.0009872. PMID: 20352044.
BibTeX
@article{cox2010-20352044,
author = {Cox, L. E. and Ferraiuolo, L. and Goodall, E. F. and Heath, P. R. and Higginbottom, A. and Mortiboys, H. and Hollinger, H. C. and Hartley, J. A. and others},
title = {{Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)}},
journal = {PloS one},
year = {2010},
doi = {10.1371/journal.pone.0009872},
pmid = {20352044},
url = {https://doi.org/10.1371/journal.pone.0009872}
}
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