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Advances in understanding the molecular basis of frontotemporal dementia
Rademakers R, Neumann M, Mackenzie IR.. Nature reviews. Neurology, 2012-06-26
Topic: Risk, prevention and care in population studies
Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular basis. Until recently, the underlying cause was known in only a minority of cases that were associated with abnormalities of the tau protein or gene. In 2006, however, mutations in the progranulin gene were discovered as another important cause of familial FTD. That same year, TAR DNA-binding protein 43 (TDP-43) was identified as the pathological protein in the most common subtypes of FTD and amyotrophic lateral sclerosis (ALS). Since then, substantial efforts have been made to understand the functions and regulation of progranulin and TDP-43, as well as their roles in neurodegeneration. More recently, other DNA/RNA binding proteins (FET family proteins) have been identified as the pathological proteins in most of the remaining cases of FTD. In 2011, abnormal expansion of a hexanucleotide repeat in the gene C9orf72 was found to be the most common genetic cause of both FTD and ALS. All common FTD-causing genes have seemingly now been discovered and the main pathological proteins identified. In this Review, we highlight recent advances in understanding the molecular aspects of FTD, which will provide the basis for improved patient care through the development of more-targeted diagnostic tests and therapies.
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APA 7th
Rademakers, R., Neumann, M., & Mackenzie, I. R. (2012). Advances in understanding the molecular basis of frontotemporal dementia. Nature reviews. Neurology. https://doi.org/10.1038/nrneurol.2012.117
Vancouver
Rademakers R, Neumann M, Mackenzie IR. Advances in understanding the molecular basis of frontotemporal dementia. Nature reviews. Neurology. 2012. doi:10.1038/nrneurol.2012.117. PMID: 22732773.
BibTeX
@article{rademakers2012-22732773,
author = {Rademakers, R. and Neumann, M. and Mackenzie, I. R.},
title = {{Advances in understanding the molecular basis of frontotemporal dementia}},
journal = {Nature reviews. Neurology},
year = {2012},
doi = {10.1038/nrneurol.2012.117},
pmid = {22732773},
url = {https://doi.org/10.1038/nrneurol.2012.117}
}
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Key findings
- Until recently, the underlying cause was known in only a minority of cases that were associated with abnormalities of the tau protein or gene.
Why it matters
This review summarizes the discovery of genes and proteins involved in frontotemporal dementia, including progranulin, TDP-43 and the C9orf72 repeat expansion. It describes molecular understanding that may guide future targeted tests and therapies, but reports no treatment or cure.
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Study details
- Evidence strengthLow
How this study scored 51/100
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 | 2012 — 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 | 6 / 7 | Cited 412 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 25.8 citations a year over 16 year(s) since 2012 |
| Impact for its field and year | 4 / 6 | Cited 8.6× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 22 other studies in this library |
| Still being cited | 3 / 4 | Cited 51 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Ian R. Mackenzie: h-index 103 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of British Columbia: institution h-index 1,424 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 22732773) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 51 / 100 | — |
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Read the original
- DOI: 10.1038/nrneurol.2012.117
- PubMed: 22732773
- Original source →
- Free full text: Nature Reviews Neurology →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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