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Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, Richardson AM, Jones M, Gerhard A et al.. Brain : a journal of neurology, 2012-02-02
Topic: Brain proteins, microglia and lab models
There was, as expected, a significant association between C9ORF72 mutations and presence of motor neuron disease. Post-mortem pathology in five patients revealed transactive response DNA-binding protein 43 pathology, type A in one patient and type B in three. The findings indicate that C9ORF72 mutations cause some but not all cases of frontotemporal dementia with motor neuron disease. C9ORF72 mutations are associated with variable clinical presentations and pathology. Nevertheless, the findings highlight a powerful association between C9ORF72 mutations and psychosis and suggest that the behavioural characteristics of patients with C9ORF72 mutations are qualitatively distinct.
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APA 7th
Snowden, J. S., Rollinson, S., Thompson, J. C., Harris, J. M., Stopford, C. L., Richardson, A. M., et al. (2012). Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain : a journal of neurology. https://doi.org/10.1093/brain/awr355
Vancouver
Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, Richardson AM, et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain : a journal of neurology. 2012. doi:10.1093/brain/awr355. PMID: 22300873.
BibTeX
@article{snowden2012-22300873,
author = {Snowden, J. S. and Rollinson, S. and Thompson, J. C. and Harris, J. M. and Stopford, C. L. and Richardson, A. M. and Jones, M. and Gerhard, A. and others},
title = {{Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations}},
journal = {Brain : a journal of neurology},
year = {2012},
doi = {10.1093/brain/awr355},
pmid = {22300873},
url = {https://doi.org/10.1093/brain/awr355}
}
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Key findings
- There was, as expected, a significant association between C9ORF72 mutations and presence of motor neuron disease.
- Post-mortem pathology in five patients revealed transactive response DNA-binding protein 43 pathology, type A in one patient and type B in three.
- The findings indicate that C9ORF72 mutations cause some but not all cases of frontotemporal dementia with motor neuron disease.
- C9ORF72 mutations are associated with variable clinical presentations and pathology.
- Nevertheless, the findings highlight a powerful association between C9ORF72 mutations and psychosis and suggest that the behavioural characteristics of patients with C9ORF72 mutations are qualitatively distinct.
Why it matters
This study found that C9ORF72 mutations cause some but not all cases of frontotemporal dementia with motor neuron disease, and are associated with variable clinical presentations and pathology. It highlights a powerful association between C9ORF72 mutations and psychosis, suggesting the behavioural characteristics of these patients are qualitatively distinct.
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Study details
- Participants398
- Evidence strengthModerate
How this study scored 60/100
Published in a leading specialty journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (Brain : a journal of neurology) |
| Journal's citation record | 4 / 4 | Brain: journal h-index 503 (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 | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2012 — within 20 year(s) of the newest study here |
| Sample size | 2 / 4 | 398 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 526 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 32.9 citations a year over 16 year(s) since 2012 |
| Impact for its field and year | 6 / 6 | Cited 45.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 23 other studies in this library |
| Still being cited | 2 / 4 | Cited 32 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Stuart M. Pickering-Brown: h-index 73 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Manchester: institution h-index 1,304 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 22300873) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 60 / 100 | — |
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