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PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment
Li Jiang, Yan Qin, Yu-Wen Zhao, Qian Zeng, Hong-Xu Pan, Zhen-Hua Liu, Qi-Ying Sun, Qian Xu et al.. Neurobiology of aging, 2022-04-11
Topic: Genetics and APOE
Presenilin 1 (PSEN1) mutations are a major cause of familial Alzheimer's disease. The pathogenic variant, PSEN1 p.G417S, has been reported to be associated with spastic paraparesis and cotton wool plaques in Japan. Here, we report a 3 generation Chinese pedigree that included 10 patients presenting with early-onset and rapid progression of parkinsonism with cognitive impairment in their third or fourth decade of life. Three additional living patients developed different degrees of cognitive impairment, without movement disorders. Magnetic resonance imaging of the brain showed white matter hyperintensities, multiple microbleeds, and enlarged perivascular spaces. Whole exome sequencing analysis of the proband detected the mutation, p.G417S, in PSEN1, which was completely co-segregated with the disease phenotype within the family by Sanger sequencing. 3D protein structures predicted that the mutation might influence contact with the lipid membrane and the interaction with beta-catenin. Our study provides insights into the heterogeneity in clinical presentation and imaging associated with mutations in PSEN1.
Key findings
- The pathogenic variant, PSEN1 p.G417S, has been reported to be associated with spastic paraparesis and cotton wool plaques in Japan.
- Our study provides insights into the heterogeneity in clinical presentation and imaging associated with mutations in PSEN1.
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Study details
- Evidence strengthLow
How this study scored 41/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record, multi-centre collaboration and free to read, so those were left out: it earned 23 of the 56 points we could judge it on, which is 41 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurobiology of aging) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| 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 | 3 / 5 | 2022 — within 6 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) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 35489321) |
| Free to read | — / 2 | Access not recorded — left out of this score |
| Points | 23 / 56 | Scored on 10 of 20 parts. We have no data for the rest, so they are left out: 23 of the 56 points we could judge it on is 41 out of 100. |
| Total | 41 / 100 | — |
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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
Jiang, L., Qin, Y., Zhao, Y.-W., Zeng, Q., Pan, H.-X., Liu, Z.-H., et al. (2022). PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2022.03.016
Vancouver
Jiang L, Qin Y, Zhao Y.-W, Zeng Q, Pan H.-X, Liu Z.-H, et al. PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment. Neurobiology of aging. 2022. doi:10.1016/j.neurobiolaging.2022.03.016. PMID: 35489321.
BibTeX
@article{jiang2022-35489321,
author = {Jiang, Li and Qin, Yan and Zhao, Yu-Wen and Zeng, Qian and Pan, Hong-Xu and Liu, Zhen-Hua and Sun, Qi-Ying and Xu, Qian and others},
title = {{PSEN1 G417S mutation in a Chinese pedigree causing early-onset parkinsonism with cognitive impairment}},
journal = {Neurobiology of aging},
year = {2022},
doi = {10.1016/j.neurobiolaging.2022.03.016},
pmid = {35489321},
url = {https://doi.org/10.1016/j.neurobiolaging.2022.03.016}
}
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