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SnapShot: Genetics of ALS and FTD
Guerreiro R, Brás J, Hardy J.. Cell, 2015-02-01
Topic: Brain proteins, microglia and lab models
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are considered to be part of a spectrum. Clinically, FTD patients present with dementia frequently characterized by behavioral and speech problems. ALS patients exhibit alterations of voluntary movements caused by degeneration of motor neurons. Both syndromes can be present within the same family or even in the same person. The genetic findings for both diseases also support the existence of a continuum, with mutations in the same genes being found in patients with FTD, ALS, or FTD/ALS.
Key findings
- Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are considered to be part of a spectrum.
- Clinically, FTD patients present with dementia frequently characterized by behavioral and speech problems.
- ALS patients exhibit alterations of voluntary movements caused by degeneration of motor neurons.
- Both syndromes can be present within the same family or even in the same person.
- The genetic findings for both diseases also support the existence of a continuum, with mutations in the same genes being found in patients with FTD, ALS, or FTD/ALS.
Why it matters
This summary describes genetic findings showing that frontotemporal dementia and amyotrophic lateral sclerosis form a spectrum, with mutations in the same genes found in patients with either or both conditions. It concerns genetics and classification, not treating, curing, or preventing Alzheimer's disease.
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Study details
- Evidence strengthLow
How this study scored 43/100
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 (Cell) |
| Journal's citation record | 4 / 4 | Cell: journal h-index 1,220 (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 | 2015 — 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 | 4 / 7 | Cited 78 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 6.0 citations a year over 13 year(s) since 2015 |
| Impact for its field and year | 4 / 6 | Cited 8.5× 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 | 1 / 4 | Cited 4 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author John Hardy: h-index 205 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University College London: institution h-index 2,029 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 25679767) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 43 / 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. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Guerreiro, R., Brás, J., & Hardy, J. (2015). SnapShot: Genetics of ALS and FTD. Cell. https://doi.org/10.1016/j.cell.2015.01.052
Vancouver
Guerreiro R, Brás J, Hardy J. SnapShot: Genetics of ALS and FTD. Cell. 2015. doi:10.1016/j.cell.2015.01.052. PMID: 25679767.
BibTeX
@article{guerreiro2015-25679767,
author = {Guerreiro, R. and Brás, J. and Hardy, J.},
title = {{SnapShot: Genetics of ALS and FTD}},
journal = {Cell},
year = {2015},
doi = {10.1016/j.cell.2015.01.052},
pmid = {25679767},
url = {https://doi.org/10.1016/j.cell.2015.01.052}
}