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Data‐Driven Clustering Approach to Identify Different Phenotypes of Primary Central Nervous System Vasculitis

Title: Data‐Driven Clustering Approach to Identify Different Phenotypes of Primary Central Nervous System Vasculitis
Authors: de Boysson, Hubert; Nehme, Ahmad; Briant, Anais R.; Alamowitch, Sonia; Aouba, Achille; Arquizan, Caroline; Boulouis, Grégoire; Capron, Jean; Casolla, Barbara; Denier, Christian; Dequatre, Nelly; Detante, Olivier; Derex, Laurent; Godard, Sophie; Gollion, Cédric; Guillon, Benoit; Humbertjean, Lisa; Isabel, Clothilde; Kerschen, Philippe; Kremer, Laurent; Lambert, Nicolas; Lanthier, Sylvain; Maarouf, Adil; Néel, Antoine; Papo, Thomas; Poppe, Alexandre Y.; Régent, Alexis; Sellimi, Amina; Sibon, Igor; Terrier, Benjamin; Touzé, Emmanuel; Vannier, Stéphane; Weisenburger‐Lile, David; Zuber, Mathieu; Parienti, Jean‐Jacques; Pagnoux, Christian
Source: European Journal of Neurology ; volume 32, issue 5 ; ISSN 1351-5101 1468-1331
Publisher Information: Wiley
Publication Year: 2025
Collection: Wiley Online Library (Open Access Articles via Crossref)
Description: Background To determine whether hierarchical unsupervised cluster analysis identifies a phenotypic distinction in adult patients with primary CNS vasculitis (PCNSV). Methods An agglomerative hierarchical cluster analysis based on the Ward method was conducted, including 153 patients with complete baseline phenotypic characterization in the COVAC' registry. Results The hierarchical analysis identified two main clusters. In Cluster 1 ( n = 109 patients, 71%), patients more frequently had a motor deficit ( p = 0.039), ≥ 1 acute brain infarct ( p < 0.001), and ≥ 1 intracranial stenosis on CT or MR angiogram ( p < 0.001) than patients in Cluster 2 ( n = 44 patients, 29%). Conversely, patients in Cluster 2 more frequently had seizures ( p < 0.001), cognitive impairment ( p = 0.002), gadolinium‐enhanced parenchymal lesions ( p < 0.001), leptomeningeal enhancement ( p < 0.001), ≥ 1 cerebral microbleed ( p < 0.001), and intracranial hemorrhage(s) ( p < 0.001). In multivariable logistic regression, gadolinium‐enhanced parenchymal lesions were significantly associated with Cluster 2 lesions (OR = 35.53 [95% CI: 3.91–322.81], p = 0.002). Conversely, ≥ 1 acute brain infarct was significantly associated with Cluster 1 (OR = 0.003 [95% CI: 0.01–0.03], p < 0.001). A CNS biopsy was positive in 11/40 (28%) patients from Cluster 1 and 35/37 (95%) patients from Cluster 2 ( p < 0.001). At 12 months, functional independence (modified Rankin scale score ≤ 2) did not differ between the two groups ( p = 0.17). Relapse and mortality rates did not differ between the clusters ( p = 0.17 and p = 0.23, respectively). Conclusion This unsupervised analysis of a large PCNSV cohort identified two different clinical and radiological phenotypes with different diagnostic work‐ups, which confirms the relevance of distinguishing PCNSV phenotypes according to the sizes of affected vessels.
Document Type: article in journal/newspaper
Language: English
DOI: 10.1111/ene.70174
Availability: https://doi.org/10.1111/ene.70174; https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.70174
Rights: http://creativecommons.org/licenses/by-nc-nd/4.0/
Accession Number: edsbas.FC1B6819
Database: BASE