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Increased risk for dementia in neurofibromatosis type 1
Kallionpää Roope A, Valtanen Mikko, Auranen Kari, Uusitalo Elina, Rinne Juha O, Peltonen Sirkku, Peltonen Juha. Genetics in medicine : official journal of the American College of Medical Genetics, 2021-07-15
Topic: Risk, prevention and care in population studies
To determine the risk for dementia in neurofibromatosis type 1 (NF1) using a Finnish nationwide cohort of individuals with NF1, and data from national registries. A Finnish cohort of 1,349 individuals with confirmed NF1 according to the US National Institutes of Health (NIH) diagnostic criteria was compared with a control cohort of 13,870 individuals matched for age, sex, and area of residence. Dementia-related hospital visits were retrieved from the Finnish Care Register for Health Care using International Classification of Diseases, 10th revision (ICD-10) diagnosis codes G30 and F00-F03. Purchases of antidementia drugs were queried with Anatomical Therapeutic Chemical (ATC) classification code N06D from the drug reimbursement register maintained by the Social Insurance Institution of Finland. The follow-up spanned 1998-2014. Totals of 16 and 165 individuals with at least two dementia-related diagnoses or drug purchases were identified in the NF1 and control cohorts, respectively. The hazard ratio for dementia in NF1 was 1.67 (95% confidence interval [CI] 1.00-2.80, P = 0.050). In an analysis stratified by the type of dementia, the risk for Alzheimer disease was increased in NF1 compared to controls with a hazard ratio of 2.88 (95% CI 1.47-5.66, P = 0.002). Dementia and especially Alzheimer disease are previously unrecognized neurological complications of NF1.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Kallionpää Roope, A., Mikko, V., Kari, A., Elina, U., Rinne Juha, O., Sirkku, P., et al. (2021). Increased risk for dementia in neurofibromatosis type 1. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01261-3
Vancouver
Kallionpää Roope A, Mikko V, Kari A, Elina U, Rinne Juha O, Sirkku P, et al. Increased risk for dementia in neurofibromatosis type 1. Genetics in medicine : official journal of the American College of Medical Genetics. 2021. doi:10.1038/s41436-021-01261-3. PMID: 34257422.
BibTeX
@article{kallionpaaroope2021-34257422,
author = {Kallionpää Roope, A. and Mikko, Valtanen and Kari, Auranen and Elina, Uusitalo and Rinne Juha, O. and Sirkku, Peltonen and Juha, Peltonen},
title = {{Increased risk for dementia in neurofibromatosis type 1}},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
year = {2021},
doi = {10.1038/s41436-021-01261-3},
pmid = {34257422},
url = {https://doi.org/10.1038/s41436-021-01261-3}
}
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 7 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.
Key findings
- A Finnish cohort of 1,349 individuals with confirmed NF1 according to the US National Institutes of Health (NIH) diagnostic criteria was compared with a control cohort of 13,870 individuals matched for age, sex, and area of residence.
- In an analysis stratified by the type of dementia, the risk for Alzheimer disease was increased in NF1 compared to controls with a hazard ratio of 2.88 (95% CI 1.47-5.66, P = 0.002).
Why it matters
In a Finnish nationwide cohort, people with neurofibromatosis type 1 had an increased risk of Alzheimer disease compared with controls. This identifies a risk association only and does not test any treatment, cure, or prevention.
Study details
- Participants1,349
- Evidence strengthModerate
How this study scored 46/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Genetics in medicine : official journal of the American College of Medical Genetics) |
| Journal's citation record | 2 / 4 | Genetics in Medicine: journal h-index 204 (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 | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 3 / 5 | 2021 — within 6 year(s) of the newest study here |
| Sample size | 3 / 4 | 1,349 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 3 / 7 | Cited 18 times (OpenAlex, 2026-10-17) |
| Citations per year | 1 / 5 | 2.6 citations a year over 7 year(s) since 2021 |
| Impact for its field and year | 2 / 6 | Cited 1.4× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 1 / 4 | Cited 12 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Juha T.K. Peltonen: h-index 57 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Gothenburg: institution h-index 971 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 6 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 34257422) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 46 / 100 | — |
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