Home › Research › Tau biomarkers
Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study
Mattsson N, Zetterberg H, Bianconi S, Yanjanin NM, Fu R, Månsson JE, Porter FD, Blennow K.. Neurology, 2010-12-29
Topic: Brain proteins, microglia and lab models
Objective Niemann-Pick disease type C (NPC) is an inherited disorder characterized by intracellular accumulation of lipids such as cholesterol and glycosphingolipids in endosomes and lysosomes. This accumulation induces progressive degeneration of the nervous system. NPC shows some intriguing similarities with Alzheimer disease (AD), including neurofibrillary tangles, but patients with NPC generally lack amyloid-β (Aβ) plaques.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Mattsson, N., Zetterberg, H., Bianconi, S., Yanjanin, N. M., Fu, R., Månsson, J. E., et al. (2011). Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study. Neurology. https://doi.org/10.1212/wnl.0b013e318208f4ab
Vancouver
Mattsson N, Zetterberg H, Bianconi S, Yanjanin NM, Fu R, Månsson JE, et al. Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study. Neurology. 2011. doi:10.1212/wnl.0b013e318208f4ab. PMID: 21205675.
BibTeX
@article{mattsson2011-21205675,
author = {Mattsson, N. and Zetterberg, H. and Bianconi, S. and Yanjanin, N. M. and Fu, R. and Månsson, J. E. and Porter, F. D. and Blennow, K.},
title = {{Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study}},
journal = {Neurology},
year = {2011},
doi = {10.1212/wnl.0b013e318208f4ab},
pmid = {21205675},
url = {https://doi.org/10.1212/wnl.0b013e318208f4ab}
}
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.
Key findings
- This accumulation induces progressive degeneration of the nervous system.
- NPC shows some intriguing similarities with Alzheimer disease (AD), including neurofibrillary tangles, but patients with NPC generally lack amyloid-β (Aβ) plaques.
- Lipids affect γ-secretase-dependent amyloid precursor protein (APP) metabolism that generates Aβ in vitro, but this has been difficult to prove in vivo.
- Our aim was to assess the effect of altered lipid constituents in neuronal membranes on amyloidogenic APP processing in humans.
Why it matters
This cross-sectional study assessed whether altered lipid constituents in neuronal membranes affect amyloidogenic processing in Niemann-Pick disease type C, a disorder that shares some features with Alzheimer's disease but generally lacks amyloid-β plaques. It is an observational study of a different inherited disorder and does not test any treatment, cure, or prevention for Alzheimer's disease.
New to this subject? Start with our plain-English guide: Blood tests & biomarkers →
Study details
- Participants38
- Evidence strengthLow
How this study scored 51/100
Published in a leading specialty journal. Scored zero for study design, effect reported and randomized / 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 | 2011 — within 20 year(s) of the newest study here |
| Sample size | 1 / 4 | 38 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 78 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 4.6 citations a year over 17 year(s) since 2011 |
| Impact for its field and year | 3 / 6 | Cited 6.1× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 1 / 6 | Cited by 1 other studies in this library |
| Still being cited | 2 / 4 | Cited 15 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Kaj Blennow: h-index 220 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | National Institutes of Health: institution h-index 2,723 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 21205675) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 51 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Related
Studies in the library that share something with this one. The line above each title says what.
Studies this one cites
Referenced by this study and also in the alzhub library, so you can read them here.
Later studies that cite this one
1 study in the alzhub library lists this one in its references.
Related studies in Tau biomarkers
Also tagged “precursor”
1,337 studies in the library carry the topic tag “precursor”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 1,337 tagged studies.