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Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J et al.. Brain : a journal of neurology, 2012-03-01
Topic: Brain proteins, microglia and lab models
Intronic expansion of the GGGGCC hexanucleotide repeat within the C9ORF72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in both familial and sporadic cases. Initial reports indicate that this variant within the frontotemporal dementia/amyotrophic lateral sclerosis spectrum is associated with transactive response DNA binding protein (TDP-43) proteinopathy. The amyotrophic lateral sclerosis/motor neuron disease phenotype is not yet well characterized.
Key findings
- Initial reports indicate that this variant within the frontotemporal dementia/amyotrophic lateral sclerosis spectrum is associated with transactive response DNA binding protein (TDP-43) proteinopathy.
- The amyotrophic lateral sclerosis/motor neuron disease phenotype is not yet well characterized.
- We report the clinical and pathological phenotypes associated with pathogenic C9ORF72 mutations in a cohort of 563 cases from Northern England, including 63 with a family history of amyotrophic lateral sclerosis.
- One hundred and fifty-eight cases from the cohort (21 familial, 137 sporadic) were post-mortem brain and spinal cord donors.
Why it matters
This study describes the clinical and pathological features of amyotrophic lateral sclerosis in people with C9ORF72 expansions, a genetic variant also linked to frontotemporal dementia. It does not test any treatment or prevention, and the authors note the motor neuron disease phenotype was not yet well characterized.
Study details
- Participants361
- Evidence strengthModerate
How this study scored 62/100
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 | 361 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 332 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 20.8 citations a year over 16 year(s) since 2012 |
| Impact for its field and year | 5 / 6 | Cited 24.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 9 other studies in this library |
| Still being cited | 2 / 4 | Cited 31 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 | 3 / 3 | National Institutes of Health: institution h-index 2,723 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 8 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 22366792) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 62 / 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
Cooper-Knock, J., Hewitt, C., Highley, JR., Brockington, A., Milano, A., Man, S., et al. (2012). Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain : a journal of neurology. https://doi.org/10.1093/brain/awr365
Vancouver
Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain : a journal of neurology. 2012. doi:10.1093/brain/awr365. PMID: 22366792.
BibTeX
@article{cooperknock2012-22366792,
author = {Cooper-Knock, J. and Hewitt, C. and Highley, JR. and Brockington, A. and Milano, A. and Man, S. and Martindale, J. and Hartley, J. and others},
title = {{Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72}},
journal = {Brain : a journal of neurology},
year = {2012},
doi = {10.1093/brain/awr365},
pmid = {22366792},
url = {https://doi.org/10.1093/brain/awr365}
}
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