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Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease
Basun H, Bogdanovic N, Ingelsson M, Almkvist O, Näslund J, Axelman K, Bird TD, Nochlin D et al.. Archives of neurology, 2008-04-01
Topic: Amyloid, tau and blood-test diagnosis
Plain-language summary
Background A majority of mutations within the beta-amyloid region of the amyloid precursor protein (APP) gene cause inherited forms of intracerebral hemorrhage. Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra-beta-amyloid mutation to date causing the more typical clinical picture of Alzheimer disease. Objective To describe features of 1 Swedish and 1 American family with the previously reported Arctic APP mutation.
What this study adds
Evidence grade: Low
This report describes the clinical and neuropathological features of the Arctic amyloid precursor protein mutation in one Swedish and one American family. It characterizes an inherited form of early-onset Alzheimer's disease and does not test any treatment, cure, or prevention.
Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Basun, H., Bogdanovic, N., Ingelsson, M., Almkvist, O., Näslund, J., Axelman, K., et al. (2008). Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. Archives of neurology. https://doi.org/10.1001/archneur.65.4.499
Vancouver
Basun H, Bogdanovic N, Ingelsson M, Almkvist O, Näslund J, Axelman K, et al. Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. Archives of neurology. 2008. doi:10.1001/archneur.65.4.499. PMID: 18413473.
BibTeX
@article{basun2008-18413473,
author = {Basun, H. and Bogdanovic, N. and Ingelsson, M. and Almkvist, O. and Näslund, J. and Axelman, K. and Bird, T. D. and Nochlin, D. and others},
title = {{Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease}},
journal = {Archives of neurology},
year = {2008},
doi = {10.1001/archneur.65.4.499},
pmid = {18413473},
url = {https://doi.org/10.1001/archneur.65.4.499}
}
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.
Key findings
- Most of these mutations may also cause cognitive impairment, but the Arctic APP mutation is the only known intra-beta-amyloid mutation to date causing the more typical clinical picture of Alzheimer disease.
- Objective To describe features of 1 Swedish and 1 American family with the previously reported Arctic APP mutation.
- Design, setting, and participants Affected and nonaffected carriers of the Arctic APP mutation from the Swedish and American families were investigated clinically.
- In addition, 1 brain from each family was investigated neuropathologically.
Why it matters
This report describes the clinical and neuropathological features of the Arctic amyloid precursor protein mutation in one Swedish and one American family. It characterizes an inherited form of early-onset Alzheimer's disease and does not test any treatment, cure, or prevention.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Evidence strengthLow
How this study scored 46/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Archives of neurology) |
| Journal's citation record | 3 / 4 | Archives of Neurology: journal h-index 353 (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 | 2008 — 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 116 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 5.8 citations a year over 20 year(s) since 2008 |
| Impact for its field and year | 3 / 6 | Cited 5.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 7 other studies in this library |
| Still being cited | 2 / 4 | Cited 16 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Lars Lannfelt: h-index 93 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | University of Washington: institution h-index 3,540 (OpenAlex) |
| Multicenter collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 18413473) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 46 / 100 | — |
What each of these 20 components measures, and what this score is not →
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