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An update on genetic frontotemporal dementia
Greaves CV, Rohrer JD.. Journal of neurology, 2019-05-22
Topic: Risk, prevention and care in population studies
Grey matter changes on MRI and hypometabolism on FDG-PET are seen at least 10 years before symptom onset with white matter abnormalities seen earlier, but the pattern and exact timing of changes differ between different genetic groups. In contrast, tau PET has yet to show promise in genetic FTD. Three key fluid biomarkers have been identified so far that are likely to be helpful in clinical trials-CSF or blood neurofilament light chain levels (in all groups), CSF or blood progranulin levels (in GRN carriers) and CSF poly(GP) dipeptide repeat protein levels (in C9orf72 carriers). Increased knowledge about genetic FTD has led to more clinical presymptomatic genetic testing but this has not yet been mirrored in the development of either an accepted FTD-specific testing protocol or provision of appropriate psychological support mechanisms for those living through the at-risk phase. This will become even more relevant as disease-modifying therapy trials start in each of the genetic groups over the next few years.
Key findings
- Grey matter changes on MRI and hypometabolism on FDG-PET are seen at least 10 years before symptom onset with white matter abnormalities seen earlier, but the pattern and exact timing of changes differ between different genetic groups.
- In contrast, tau PET has yet to show promise in genetic FTD.
- Three key fluid biomarkers have been identified so far that are likely to be helpful in clinical trials-CSF or blood neurofilament light chain levels (in all groups), CSF or blood progranulin levels (in GRN carriers) and CSF poly(GP) dipeptide repeat protein levels (in C9orf72 carriers).
- Increased knowledge about genetic FTD has led to more clinical presymptomatic genetic testing but this has not yet been mirrored in the development of either an accepted FTD-specific testing protocol or provision of appropriate psychological support mechanisms for those living through the at-risk phase.
- This will become even more relevant as disease-modifying therapy trials start in each of the genetic groups over the next few years.
Why it matters
This 2019 update on genetic frontotemporal dementia (FTD) says grey matter changes on MRI and reduced metabolism on FDG-PET are seen at least 10 years before symptoms begin, with white matter changes earlier still, though the pattern and timing differ between genetic groups. It names three fluid markers "likely to be helpful in clinical trials" (neurofilament light chain in all groups, progranulin in GRN carriers, poly(GP) in C9orf72 carriers) and says tau PET "has yet to show promise". It also warns that presymptomatic genetic testing has grown without an accepted FTD-specific testing protocol or psychological support for people living at risk; it is not about Alzheimer's disease and reports no treatment result.
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Study details
- Evidence strengthLow
How this study scored 56/100
Published in a peer-reviewed 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 | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of neurology) |
| Journal's citation record | 2 / 4 | Journal of Neurology: journal h-index 208 (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 | 2019 — 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 | 6 / 7 | Cited 500 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 55.6 citations a year over 9 year(s) since 2019 |
| Impact for its field and year | 5 / 6 | Cited 32.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 33 other studies in this library |
| Still being cited | 4 / 4 | Cited 208 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Jonathan Daniel Rohrer: h-index 91 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University College London: institution h-index 2,029 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 31119452) |
| Free to read | 2 / 2 | Free to read |
| Total | 56 / 100 | — |
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Read the original
- DOI: 10.1007/s00415-019-09363-4
- PubMed: 31119452
- Original source →
- Free full text: Journal of Neurology →
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. Check the citation against the original before you use it.
APA 7th
Greaves, C. V., & Rohrer, J. D. (2019). An update on genetic frontotemporal dementia. Journal of neurology. https://doi.org/10.1007/s00415-019-09363-4
Vancouver
Greaves CV, Rohrer JD. An update on genetic frontotemporal dementia. Journal of neurology. 2019. doi:10.1007/s00415-019-09363-4. PMID: 31119452.
BibTeX
@article{greaves2019-31119452,
author = {Greaves, C. V. and Rohrer, J. D.},
title = {{An update on genetic frontotemporal dementia}},
journal = {Journal of neurology},
year = {2019},
doi = {10.1007/s00415-019-09363-4},
pmid = {31119452},
url = {https://doi.org/10.1007/s00415-019-09363-4}
}
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