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Parkinsonism, movement disorders and genetics in frontotemporal dementia
Baizabal-Carvallo JF, Jankovic J.. Nature reviews. Neurology, 2016-02-19
Topic: Brain proteins, microglia and lab models
Frontotemporal dementia (FTD) refers to a group of clinically and genetically heterogeneous neurodegenerative disorders that are a common cause of adult-onset behavioural and cognitive impairment. FTD often presents in combination with various hyperkinetic or hypokinetic movement disorders, and evidence suggests that various genetic mutations underlie these different presentations. Here, we review the known syndromatic-genetic correlations in FTD.
Key findings
- FTD often presents in combination with various hyperkinetic or hypokinetic movement disorders, and evidence suggests that various genetic mutations underlie these different presentations.
- Here, we review the known syndromatic-genetic correlations in FTD.
- Although no direct genotype-phenotype correlations have been identified, mutations in multiple genes have been associated with various presentations.
- Mutations in the genes that encode microtubule-associated protein tau (MAPT) and progranulin (PGRN) can manifest as symmetrical parkinsonism, including the phenotypes of Richardson syndrome and corticobasal syndrome (CBS).
Why it matters
This review covers genetic mutations linked to frontotemporal dementia and its movement symptoms, including genes for tau and progranulin. It reports no treatment, cure, or prevention for Alzheimer's disease.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 45/100
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 (Nature reviews. Neurology) |
| Journal's citation record | 3 / 4 | Nature Reviews Neurology: journal h-index 269 (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 | 2016 — within 20 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 123 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 10.2 citations a year over 12 year(s) since 2016 |
| Impact for its field and year | 3 / 6 | Cited 3.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 5 other studies in this library |
| Still being cited | 2 / 4 | Cited 21 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Joseph J. Jankovic: h-index 169 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Baylor College of Medicine: institution h-index 1,607 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 26891767) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 45 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
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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
Baizabal-Carvallo, J. F., & Jankovic, J. (2016). Parkinsonism, movement disorders and genetics in frontotemporal dementia. Nature reviews. Neurology. https://doi.org/10.1038/nrneurol.2016.14
Vancouver
Baizabal-Carvallo JF, Jankovic J. Parkinsonism, movement disorders and genetics in frontotemporal dementia. Nature reviews. Neurology. 2016. doi:10.1038/nrneurol.2016.14. PMID: 26891767.
BibTeX
@article{baizabalcarvallo2016-26891767,
author = {Baizabal-Carvallo, J. F. and Jankovic, J.},
title = {{Parkinsonism, movement disorders and genetics in frontotemporal dementia}},
journal = {Nature reviews. Neurology},
year = {2016},
doi = {10.1038/nrneurol.2016.14},
pmid = {26891767},
url = {https://doi.org/10.1038/nrneurol.2016.14}
}
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