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CSF1R-related leukoencephalopathy: A major player in primary microgliopathies
Konno T, Kasanuki K, Ikeuchi T, Dickson DW, Wszolek ZK.. Neurology, 2018-11-14
Topic: Brain proteins, microglia and lab models
Since the discovery of CSF1R gene mutations in families with hereditary diffuse leukoencephalopathy with spheroids in 2012, more than 70 different mutations have been identified around the world. Through the analyses of mutation carriers, CSF1R -related leukoencephalopathy has been distinctly characterized clinically, radiologically, and pathologically. Typically, patients present with frontotemporal dementia-like phenotype in their 40s-50s, accompanied by motor symptoms, including pyramidal and extrapyramidal signs.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Konno, T., Kasanuki, K., Ikeuchi, T., Dickson, D. W., & Wszolek, Z. K. (2018). CSF1R-related leukoencephalopathy: A major player in primary microgliopathies. Neurology. https://doi.org/10.1212/wnl.0000000000006642
Vancouver
Konno T, Kasanuki K, Ikeuchi T, Dickson DW, Wszolek ZK. CSF1R-related leukoencephalopathy: A major player in primary microgliopathies. Neurology. 2018. doi:10.1212/wnl.0000000000006642. PMID: 30429277.
BibTeX
@article{konno2018-30429277,
author = {Konno, T. and Kasanuki, K. and Ikeuchi, T. and Dickson, D. W. and Wszolek, Z. K.},
title = {{CSF1R-related leukoencephalopathy: A major player in primary microgliopathies}},
journal = {Neurology},
year = {2018},
doi = {10.1212/wnl.0000000000006642},
pmid = {30429277},
url = {https://doi.org/10.1212/wnl.0000000000006642}
}
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Key findings
- Through the analyses of mutation carriers, CSF1R -related leukoencephalopathy has been distinctly characterized clinically, radiologically, and pathologically.
- Typically, patients present with frontotemporal dementia-like phenotype in their 40s-50s, accompanied by motor symptoms, including pyramidal and extrapyramidal signs.
- Women tend to develop the clinical symptoms at a younger age than men.
- On brain imaging, in addition to white matter abnormalities, thinning of the corpus callosum, diffusion-restricted lesions in the white matter, and brain calcifications are hallmarks.
Why it matters
This review describes CSF1R-related leukoencephalopathy, which typically presents with a frontotemporal dementia-like phenotype in the 40s-50s. It reports no treatment, cure, or prevention for Alzheimer's disease.
Study details
- Evidence strengthLow
How this study scored 50/100
Published in a leading specialty 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 | 9 / 10 | Tier 2 — leading specialty journal (Neurology) |
| Journal's citation record | 4 / 4 | Neurology: journal h-index 525 (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 | 2 / 5 | 2018 — within 10 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 | 5 / 7 | Cited 210 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 21.0 citations a year over 10 year(s) since 2018 |
| Impact for its field and year | 3 / 6 | Cited 6.0× 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 | 3 / 4 | Cited 86 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Zbigniew K. Wszołek: h-index 112 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Mayo Clinic: institution h-index 1,606 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 30429277) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 50 / 100 | — |
What each of these 20 components measures, and what this score is not →
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