Macular vessel density is associated with cognitive function in preclinical p.R544C NOTCH3 mutation carriers: Erratum
Notice bibliographique
Résumé
In the article “Macular vessel density is associated with cognitive function in preclinical p.R544C NOTCH3 mutation carriers: Journal of the Chinese Medical Association. 88(8):601-608, April 2025.”, portions of the abstract and lay summary are disorganized due to certain text being placed under incorrect subtitles, which may affect clarity and readability. To ensure accuracy and proper interpretation, the corrected abstract and lay summary are provided below. Abstract Background: Identifying early and covert manifestations of cerebral small vessel disease remains a major challenge. In Taiwan, the p.R544C NOTCH3 mutation, which causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is common, yet its preclinical microvascular correlates are not well understood. We investigated whether macular microvascular changes, quantified by optical coherence tomography angiography (OCTA), are associated with cognitive performance and white matter hyperintensities (WMH) in asymptomatic NOTCH3 mutation carriers. Methods: This cross-sectional study included genetically confirmed p.R544C NOTCH3 carriers without stroke history or cognitive complaints. All participants underwent OCTA to measure parafoveal vessel density in the superficial retinal plexus (SRP), brain MRI to quantify whole-brain WMH, and neuropsychological testing. Multivariable regression models adjusted for age, sex, and vascular risk factors were used to assess associations. Results: Forty-nine asymptomatic carriers (median age 61 years; 44.9% men) were analyzed. Higher parafoveal SRP vessel density was independently associated with lower Montreal Cognitive Assessment (MoCA) scores (β = −0.31; 95% CI: −0.15 to 0.00; p = 0.044) and slower Color Trails Test performance (CTT-1: β = −0.60; p < 0.001; CTT-2: β = −0.45; p = 0.008). WMH volume correlated with MoCA scores but not with SRP vessel density, suggesting distinct microvascular processes in retina and brain. Conclusion: Even in the absence of clinical symptoms, increased macular SRP vessel density in NOTCH3 mutation carriers is linked to subtle cognitive decline and may reflect an autoregulatory response to early capillary plexus dysfunction. OCTA offers a rapid, noninvasive biomarker for identifying individuals at risk for CADASIL-related cognitive impairment before overt neurological manifestations appear.1 Lay Summary: The p.R544C NOTCH3 gene mutation increases the risk of CADASIL, a rare small vessel disease that can cause stroke and dementia after years of silent damage. We studied 49 symptom-free carriers using optical coherence tomography angiography (OCTA), a quick eye scan, along with brain MRI and cognitive tests. Higher macular vessel density was associated with poorer memory and attention, even when MRI changes were mild, which may reflect early compensatory blood flow. These findings suggest that a simple OCTA scan may detect early brain changes in CADASIL before symptoms appear. The authors apologize for the mistake and for any confusion this may have caused.
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Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,003 | 0,027 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,001 |
| Bibliométrie | 0,000 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,002 | 0,004 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; les deux têtes enseignantes s’accordent sur ce qui est montré ici.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».