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Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease
Cairns NJ, Grossman M, Arnold SE, Burn DJ, Jaros E, Perry RH, Duyckaerts C, Stankoff B et al.. Neurology, 2004-10-01
Topic: Brain proteins, microglia and lab models
Background Recently described neuronal intermediate filament inclusion disease (NIFID) shows considerable clinical heterogeneity. Objective To assess the spectrum of the clinical and neuropathological features in 10 NIFID cases. Methods Retrospective chart and comprehensive neuropathological review of these NIFID cases was conducted. Results The mean age at onset was 40.8 (range 23 to 56) years, mean disease duration was 4.5 (range 2.7 to 13) years, and mean age at death was 45.3 (range 28 to 61) years. The most common presenting symptoms were behavioral and personality changes in 7 of 10 cases and, less often, memory loss, cognitive impairment, language deficits, and motor weakness. Extrapyramidal features were present in 8 of 10 patients. Language impairment, perseveration, executive dysfunction, hyperreflexia, and primitive reflexes were frequent signs, whereas a minority had buccofacial apraxia, supranuclear ophthalmoplegia, upper motor neuron disease (MND), and limb dystonia. Frontotemporal and caudate atrophy were common. Histologic changes were extensive in many cortical areas, deep gray matter, cerebellum, and spinal cord. The hallmark lesions of NIFID were unique neuronal IF inclusions detected most robustly by antibodies to neurofilament triplet proteins and alpha-internexin. Conclusion NIFID is a neuropathologically distinct, clinically heterogeneous variant of frontotemporal dementia (FTD) that may include parkinsonism or MND. Neuronal IF inclusions are the neuropathological signatures of NIFID that distinguish it from all other FTD variants including FTD with MND and FTD tauopathies.
Key findings
- Results The mean age at onset was 40.8 (range 23 to 56) years, mean disease duration was 4.5 (range 2.7 to 13) years, and mean age at death was 45.3 (range 28 to 61) years.
Why it matters
This study describes the clinical and neuropathological features of 10 cases of neuronal intermediate filament inclusion disease, a distinct variant of frontotemporal dementia. It provides information about this rare disease but does not test any treatment, cure, or prevention.
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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 | 1 / 5 | 2004 — older than 20 years, still counted |
| 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 160 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 6.7 citations a year over 24 year(s) since 2004 |
| Impact for its field and year | 4 / 6 | Cited 11.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 12 other studies in this library |
| Still being cited | 1 / 4 | Cited 4 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author John Q. Trojanowski: h-index 255 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Washington University in St. Louis: institution h-index 1,962 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 15505152) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 50 / 100 | — |
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Read the original
- DOI: 10.1212/01.wnl.0000139809.16817.dd
- PubMed: 15505152
- Original source →
- Free full text: PubMed Central →
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. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
APA 7th
Cairns, N. J., Grossman, M., Arnold, S. E., Burn, D. J., Jaros, E., Perry, R. H., et al. (2004). Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease. Neurology. https://doi.org/10.1212/01.wnl.0000139809.16817.dd
Vancouver
Cairns NJ, Grossman M, Arnold SE, Burn DJ, Jaros E, Perry RH, et al. Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease. Neurology. 2004. doi:10.1212/01.wnl.0000139809.16817.dd. PMID: 15505152.
BibTeX
@article{cairns2004-15505152,
author = {Cairns, N. J. and Grossman, M. and Arnold, S. E. and Burn, D. J. and Jaros, E. and Perry, R. H. and Duyckaerts, C. and Stankoff, B. and others},
title = {{Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease}},
journal = {Neurology},
year = {2004},
doi = {10.1212/01.wnl.0000139809.16817.dd},
pmid = {15505152},
url = {https://doi.org/10.1212/01.wnl.0000139809.16817.dd}
}
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