Home › Research › Getting a diagnosis
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D et al.. Brain : a journal of neurology, 2012-03-01
Topic: Brain proteins, microglia and lab models
Incomplete penetrance was suggested in two kindreds, and the youngest generation had significantly earlier age of onset (>10 years) compared with the next oldest generation in 11 kindreds. Neuropathological examination of 14 patients revealed a range of transactive response DNA binding protein molecular weight 43 pathology (10 type A and four type B), as well as ubiquitin-positive cerebellar granular neuron inclusions in all but one case.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Boeve, B. F., Boylan, K. B., Graff-Radford, N. R., DeJesus-Hernandez, M., Knopman, D. S., Pedraza, O., et al. (2012). Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain : a journal of neurology. https://doi.org/10.1093/brain/aws004
Vancouver
Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, et al. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain : a journal of neurology. 2012. doi:10.1093/brain/aws004. PMID: 22366793.
BibTeX
@article{boeve2012-22366793,
author = {Boeve, B. F. and Boylan, K. B. and Graff-Radford, N. R. and DeJesus-Hernandez, M. and Knopman, D. S. and Pedraza, O. and Vemuri, P. and Jones, D. and others},
title = {{Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72}},
journal = {Brain : a journal of neurology},
year = {2012},
doi = {10.1093/brain/aws004},
pmid = {22366793},
url = {https://doi.org/10.1093/brain/aws004}
}
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.
Key findings
- Incomplete penetrance was suggested in two kindreds, and the youngest generation had significantly earlier age of onset (>10 years) compared with the next oldest generation in 11 kindreds.
- Neuropathological examination of 14 patients revealed a range of transactive response DNA binding protein molecular weight 43 pathology (10 type A and four type B), as well as ubiquitin-positive cerebellar granular neuron inclusions in all but one case.
Why it matters
This study describes frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72, finding incomplete penetrance in two kindreds and significantly earlier age of onset in the youngest generation in 11 kindreds. Neuropathological examination of 14 patients revealed a range of TDP-43 pathology and ubiquitin-positive cerebellar granular neuron inclusions, but the study reports no treatment or cure.
New to this subject? Start with our plain-English guide: Getting a diagnosis →
Study details
- Participants63
- Evidence strengthLow
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 | 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 | 2012 — within 20 year(s) of the newest study here |
| Sample size | 1 / 4 | 63 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 347 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 21.7 citations a year over 16 year(s) since 2012 |
| Impact for its field and year | 5 / 6 | Cited 31.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 12 other studies in this library |
| Still being cited | 2 / 4 | Cited 20 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Rosa Rademakers: h-index 119 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Mayo Clinic: institution h-index 1,606 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 22366793) |
| Free to read | 2 / 2 | Free to read |
| Total | 60 / 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).
Studies this one cites
Referenced by this study and also in the alzhub library, so you can read them here. Showing 12 of 19.
Later studies that cite this one
12 studies in the alzhub library list this one in their references. Showing the 8 highest-scoring.
Related studies in Getting a diagnosis
Also tagged “bodies”
1,017 studies in the library carry the topic tag “bodies”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 1,017 tagged studies.