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Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS et al.. Annals of neurology, 2007-05-01
Topic: Brain proteins, microglia and lab models
Objective Amyotrophic lateral sclerosis (ALS) is a common, fatal motor neuron disorder with no effective treatment. Approximately 10% of cases are familial ALS (FALS), and the most common genetic abnormality is superoxide dismutase-1 (SOD1) mutations. Most ALS research in the past decade has focused on the neurotoxicity of mutant SOD1, and this knowledge has directed therapeutic strategies.
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APA 7th
Mackenzie, I. R., Bigio, E. H., Ince, P. G., Geser, F., Neumann, M., Cairns, N. J., et al. (2007). Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Annals of neurology. https://doi.org/10.1002/ana.21147
Vancouver
Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Annals of neurology. 2007. doi:10.1002/ana.21147. PMID: 17469116.
BibTeX
@article{mackenzie2007-17469116,
author = {Mackenzie, I. R. and Bigio, E. H. and Ince, P. G. and Geser, F. and Neumann, M. and Cairns, N. J. and Kwong, L. K. and Forman, M. S. and others},
title = {{Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations}},
journal = {Annals of neurology},
year = {2007},
doi = {10.1002/ana.21147},
pmid = {17469116},
url = {https://doi.org/10.1002/ana.21147}
}
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Key findings
- Approximately 10% of cases are familial ALS (FALS), and the most common genetic abnormality is superoxide dismutase-1 (SOD1) mutations.
- Most ALS research in the past decade has focused on the neurotoxicity of mutant SOD1, and this knowledge has directed therapeutic strategies.
- We recently identified TDP-43 as the major pathological protein in sporadic ALS.
- In this study, we investigated TDP-43 in a larger series of ALS cases (n = 111), including familial cases with and without SOD1 mutations.
Why it matters
Building on the authors' earlier finding that TDP-43 is "the major pathological protein in sporadic ALS", this 2007 study examined TDP-43 in 111 ALS cases, including inherited cases with and without SOD1 mutations. Its title reports that TDP-43 pathology distinguishes sporadic ALS from ALS caused by SOD1 mutations; the stored abstract stops before the results, so the proportions are not shown here. It concerns amyotrophic lateral sclerosis, not Alzheimer's disease, and does not directly inform Alzheimer's treatment, cure or prevention.
Study details
- Participants111
- Evidence strengthLow
How this study scored 63/100
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 (Annals of neurology) |
| Journal's citation record | 3 / 4 | Annals of Neurology: journal h-index 437 (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 | 2007 — within 20 year(s) of the newest study here |
| Sample size | 2 / 4 | 111 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 995 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 47.4 citations a year over 21 year(s) since 2007 |
| Impact for its field and year | 6 / 6 | Cited 40.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 45 other studies in this library |
| Still being cited | 3 / 4 | Cited 137 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author John Q. Trojanowski: h-index 255 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Washington University in St. Louis: institution h-index 1,962 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 10 institution(s) in 4 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 17469116) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 63 / 100 | — |
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