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High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types
Villemagne VL, Ataka S, Mizuno T, Brooks WS, Wada Y, Kondo M, Jones G, Watanabe Y et al.. Archives of neurology, 2009-12-01
Topic: Amyloid, tau and blood-test diagnosis
Background Supported by compelling genetic data regarding early-onset familial Alzheimer disease (AD), the amyloid beta-peptide (Abeta)-centric theory holds that Abeta is involved in the pathogenesis of sporadic AD. Mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes lead to increased Abeta levels before symptoms arise. Objectives To evaluate the pattern of Pittsburgh Compound B (PiB) retention in subjects with different autosomal dominant mutations associated with familial AD vs that in healthy age-matched control subjects and subjects with probable sporadic AD, to correlate Abeta burden as measured by PiB with available clinical and cognitive data, and to compare the regional brain patterns of PiB retention and fluorodeoxyglucose F 18 (FDG) uptake.
Key findings
- Mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes lead to increased Abeta levels before symptoms arise.
- Objectives To evaluate the pattern of Pittsburgh Compound B (PiB) retention in subjects with different autosomal dominant mutations associated with familial AD vs that in healthy age-matched control subjects and subjects with probable sporadic AD, to correlate Abeta burden as measured by PiB with available clinical and cognitive data, and to compare the regional brain patterns of PiB retention and fluorodeoxyglucose F 18 (FDG) uptake.
- Design Correlation analysis of positron emission tomography (PET) imaging studies.
- Participants Seven PSEN1 mutation carriers and 1 APP mutation carrier underwent PiB and FDG PET imaging.
Why it matters
This imaging study looked at amyloid deposition in people carrying autosomal dominant Alzheimer mutations compared with healthy controls and people with sporadic Alzheimer's disease. It supports the idea that amyloid builds up before symptoms in familial Alzheimer's disease, but it does not test or provide any treatment.
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Study details
- Participants30
- Evidence strengthModerate
How this study scored 50/100
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 (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 | 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 | 1 / 5 | 2009 — within 20 year(s) of the newest study here |
| Sample size | 1 / 4 | 30 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 | 5 / 7 | Cited 173 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 9.1 citations a year over 19 year(s) since 2009 |
| Impact for its field and year | 3 / 6 | Cited 7.3× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 28 other studies in this library |
| Still being cited | 1 / 4 | Cited 11 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Christopher Cleon Rowe: h-index 100 (OpenAlex, whole career) |
| Institution's track record | 0 / 3 | Austin Health: institution h-index 458 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 20008660) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 50 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1001/archneurol.2009.285
- PubMed: 20008660
- Original source →
- Free full text: Archives of Neurology →
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
Villemagne, V. L., Ataka, S., Mizuno, T., Brooks, W. S., Wada, Y., Kondo, M., et al. (2009). High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types. Archives of neurology. https://doi.org/10.1001/archneurol.2009.285
Vancouver
Villemagne VL, Ataka S, Mizuno T, Brooks WS, Wada Y, Kondo M, et al. High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types. Archives of neurology. 2009. doi:10.1001/archneurol.2009.285. PMID: 20008660.
BibTeX
@article{villemagne2009-20008660,
author = {Villemagne, V. L. and Ataka, S. and Mizuno, T. and Brooks, W. S. and Wada, Y. and Kondo, M. and Jones, G. and Watanabe, Y. and others},
title = {{High striatal amyloid beta-peptide deposition across different autosomal Alzheimer disease mutation types}},
journal = {Archives of neurology},
year = {2009},
doi = {10.1001/archneurol.2009.285},
pmid = {20008660},
url = {https://doi.org/10.1001/archneurol.2009.285}
}
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