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CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts
Paloneva J, Autti T, Raininko R, Partanen J, Salonen O, Puranen M, Hakola P, Haltia M.. Neurology, 2001-06-01
Topic: Brain proteins, microglia and lab models
Background Nasu-Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a genetically heterogeneous disease characterized by a combination of systemic bone cysts and dementia. Objective The authors present a neurologic, neuroradiologic, and neuropathologic analysis of a series of PLOSL patients in which the diagnosis has been confirmed by molecular genetic methods. Methods Clinical, neurophysiologic, and imaging follow-up data on eight patients as well as autopsy samples of three patients were analyzed in this study.
Key findings
- Objective The authors present a neurologic, neuroradiologic, and neuropathologic analysis of a series of PLOSL patients in which the diagnosis has been confirmed by molecular genetic methods.
- Methods Clinical, neurophysiologic, and imaging follow-up data on eight patients as well as autopsy samples of three patients were analyzed in this study.
- All eight patients were homozygous for a loss-of-function mutation in the DAP12 gene.
- Results In most patients, the disease debuted with pain in ankles and wrists after strain during the third decade, followed by fractures caused by cystic lesions in the bones of the extremities.
Why it matters
Nasu-Hakola disease (PLOSL) is a disease that combines bone cysts with dementia; this paper followed eight patients whose diagnosis was confirmed genetically, all carrying two copies of a DAP12 mutation that stops the gene working, and examined autopsy samples from three. In most of them the disease began in their twenties with ankle and wrist pain after strain, followed by fractures from bone cysts; the paper's title describes the dementia as frontal, but the brain findings are not included in this record. It is not a study of Alzheimer's disease and reports no treatment, cure or prevention.
Study details
- Evidence strengthLow
How this study scored 47/100
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 | 2001 — 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 213 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 7.9 citations a year over 27 year(s) since 2001 |
| Impact for its field and year | 2 / 6 | Cited 2.1× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 46 other studies in this library |
| Still being cited | 2 / 4 | Cited 18 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Matti Haltia: h-index 71 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Helsinki: institution h-index 1,201 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 11402114) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 47 / 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. The record names 8 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
APA 7th
Paloneva, J., Autti, T., Raininko, R., Partanen, J., Salonen, O., Puranen, M., et al. (2001). CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. Neurology. https://doi.org/10.1212/wnl.56.11.1552
Vancouver
Paloneva J, Autti T, Raininko R, Partanen J, Salonen O, Puranen M, et al. CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. Neurology. 2001. doi:10.1212/wnl.56.11.1552. PMID: 11402114.
BibTeX
@article{paloneva2001-11402114,
author = {Paloneva, J. and Autti, T. and Raininko, R. and Partanen, J. and Salonen, O. and Puranen, M. and Hakola, P. and Haltia, M.},
title = {{CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts}},
journal = {Neurology},
year = {2001},
doi = {10.1212/wnl.56.11.1552},
pmid = {11402114},
url = {https://doi.org/10.1212/wnl.56.11.1552}
}
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