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Monogenic causes of cerebral small vessel disease- models for vascular cognitive impairment and dementia?
Danit Saks, Perminder Singh Sachdev. Current Opinion in Psychiatry, 2025-01-22
Topic: Brain proteins, microglia and lab models
PURPOSE OF REVIEW: Recent advancements in molecular biomarkers and therapeutic options for Alzheimer's disease have brought into focus the need for greater progress in the second most common cause of dementia, vascular cognitive impairment and dementia (VCID). We examine how the study of monogenic causes of VCID has contributed to the understanding of its pathophysiology and potential biomarker and treatment research. RECENT FINDINGS: It is widely accepted that conditions which disrupt the cerebral small vessels contribute to vascular pathologies including stroke and cerebral microbleeds, ultimately leading to vascular cognitive impairment and dementia. Among these conditions are a range of monogenic small vessel diseases (SVDs) such as CADASIL, CARASIL, Fabry disease and COL4A-related disorders. SUMMARY: This review indicates the importance of furthering research into monogenic SVDs in order to gain insight into the pathomechanisms of VCID more broadly. Monogenic conditions are easier to model than sporadic VCID and can serve as a guide for identifying biomarkers for diagnosis, monitoring and intervention outcomes.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Saks, D., & Sachdev, P. S. (2025). Monogenic causes of cerebral small vessel disease- models for vascular cognitive impairment and dementia? Current Opinion in Psychiatry. https://doi.org/10.1097/yco.0000000000000978
Vancouver
Saks D, Sachdev PS. Monogenic causes of cerebral small vessel disease- models for vascular cognitive impairment and dementia? Current Opinion in Psychiatry. 2025. doi:10.1097/yco.0000000000000978. PMID: 39840612.
BibTeX
@article{saks2025-39840612,
author = {Saks, Danit and Sachdev, Perminder Singh},
title = {{Monogenic causes of cerebral small vessel disease- models for vascular cognitive impairment and dementia?}},
journal = {Current Opinion in Psychiatry},
year = {2025},
doi = {10.1097/yco.0000000000000978},
pmid = {39840612},
url = {https://doi.org/10.1097/yco.0000000000000978}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
Key findings
- We examine how the study of monogenic causes of VCID has contributed to the understanding of its pathophysiology and potential biomarker and treatment research.
- RECENT FINDINGS: It is widely accepted that conditions which disrupt the cerebral small vessels contribute to vascular pathologies including stroke and cerebral microbleeds, ultimately leading to vascular cognitive impairment and dementia.
- Among these conditions are a range of monogenic small vessel diseases (SVDs) such as CADASIL, CARASIL, Fabry disease and COL4A-related disorders.
- SUMMARY: This review indicates the importance of furthering research into monogenic SVDs in order to gain insight into the pathomechanisms of VCID more broadly.
- Monogenic conditions are easier to model than sporadic VCID and can serve as a guide for identifying biomarkers for diagnosis, monitoring and intervention outcomes.
Why it matters
This review argues that studying inherited small vessel diseases such as CADASIL and Fabry disease could help explain vascular cognitive impairment and dementia more broadly. It does not report any new treatment or cure, only that these conditions may be useful models for finding biomarkers and targets.
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 randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Current Opinion in Psychiatry) |
| Journal's citation record | 1 / 4 | Current Opinion in Psychiatry: journal h-index 141 (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 | 4 / 5 | 2025 — within 3 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 | 2 / 7 | Cited 5 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 1.7 citations a year over 3 year(s) since 2025 |
| Impact for its field and year | 2 / 6 | Cited 2.8× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 3 other studies in this library |
| Still being cited | 1 / 4 | Cited 5 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Perminder Singh Sachdev: h-index 147 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | UNSW Sydney: institution h-index 1,101 (OpenAlex) |
| Multicenter collaboration | 1 / 3 | OpenAlex lists 3 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 39840612) |
| Free to read | 2 / 2 | Free to read |
| Total | 41 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1097/yco.0000000000000978
- PubMed: 39840612
- Original source →
- Free full text: Current Opinion in Psychiatry →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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