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Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review
Seelaar H, Rohrer JD, Pijnenburg YA, Fox NC, van Swieten JC.. Journal of neurology, neurosurgery, and psychiatry, 2010-10-22
Topic: Risk, prevention and care in population studies
Frontotemporal dementia (FTD) is the second most common young-onset dementia and is clinically characterised by progressive behavioural change, executive dysfunction and language difficulties. Three clinical syndromes, behavioural variant FTD, semantic dementia and progressive non-fluent aphasia, form part of a clinicopathological spectrum named frontotemporal lobar degeneration (FTLD). The classical neuropsychological phenotype of FTD has been enriched by tests exploring Theory of Mind, social cognition and emotional processing. Imaging studies have detailed the patterns of atrophy associated with different clinical and pathological subtypes. These patterns offer some diagnostic utility, while measures of progression of atrophy may be of use in future trials. 30-50% of FTD is familial, and mutations in two genes, microtubule associated protein tau and Progranulin (GRN), account for about half of these cases. Rare defects in VCP, CHMP2B, TARDP and FUS genes have been found in a small number of families. Linkage to chromosome 9p13.2-21.3 has been established in familial FTD with motor neuron disease, although the causative gene is yet to be identified. Recent developments in the immunohistochemistry of FTLD, and also in amyotrophic lateral sclerosis (ALS), have led to a new pathological nomenclature. The two major groups are those with tau-positive inclusions (FTLD-tau) and those with ubiquitin-positive and TAR DNA-binding protein of 43 kDa (TDP-43) positive inclusions (FTLD-TDP). Recently, a new protein involved in familial ALS, fused in sarcoma (FUS), has been found in FTLD patients with ubiquitin-positive and TDP-43-negative inclusions. In this review, the authors discuss recent clinical, neuropsychological, imaging, genetic and pathological developments that have changed our understanding of FTD, its classification and criteria. The potential to establish an early diagnosis, predict underlying pathology during life and quantify disease progression will all be required for disease-specific therapeutic trials in the future.
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APA 7th
Seelaar, H., Rohrer, J. D., Pijnenburg, Y. A., Fox, N. C., & van Swieten, J. C. (2011). Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. Journal of neurology, neurosurgery, and psychiatry. https://doi.org/10.1136/jnnp.2010.212225
Vancouver
Seelaar H, Rohrer JD, Pijnenburg YA, Fox NC, van Swieten JC. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. Journal of neurology, neurosurgery, and psychiatry. 2011. doi:10.1136/jnnp.2010.212225. PMID: 20971753.
BibTeX
@article{seelaar2011-20971753,
author = {Seelaar, H. and Rohrer, J. D. and Pijnenburg, Y. A. and Fox, N. C. and van Swieten, J. C.},
title = {{Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review}},
journal = {Journal of neurology, neurosurgery, and psychiatry},
year = {2011},
doi = {10.1136/jnnp.2010.212225},
pmid = {20971753},
url = {https://doi.org/10.1136/jnnp.2010.212225}
}
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Key findings
- Imaging studies have detailed the patterns of atrophy associated with different clinical and pathological subtypes.
Why it matters
This review describes frontotemporal dementia as the second most common young-onset dementia, with 30-50% of cases being familial and mutations in two genes accounting for about half of these cases. Imaging studies have detailed patterns of atrophy associated with different clinical and pathological subtypes, which offer some diagnostic utility, while measures of progression of atrophy may be of use in future trials.
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Study details
- Evidence strengthLow
How this study scored 53/100
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, neurosurgery, and psychiatry) |
| Journal's citation record | 3 / 4 | Journal of Neurology Neurosurgery & Psychiatry: journal h-index 336 (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 | 2011 — 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 613 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 36.1 citations a year over 17 year(s) since 2011 |
| Impact for its field and year | 5 / 6 | Cited 27.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 25 other studies in this library |
| Still being cited | 3 / 4 | Cited 75 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author John Cornelis Van Swieten: h-index 104 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | University College London: institution h-index 2,029 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 5 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 20971753) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 53 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1136/jnnp.2010.212225
- PubMed: 20971753
- Original source →
- Free full text: Journal of Neurology Neurosurgery & Psychiatry →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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