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The following is a summary of “Neurological manifestations in patients with VEXAS syndrome,” published in the February 2025 issue of Journal of Neurology by Bert-Marcaz et al. 

VEXAS syndrome, caused by UBA1 mutations, leads to systemic autoinflammation. Neurological manifestations remain poorly documented. 

Researchers conducted a retrospective study to assess the prevalence, clinical spectrum, and treatment outcomes of neurological manifestations in VEXAS syndrome.  

They conducted a retrospective multicentre study on patients with VEXAS syndrome from the French VEXAS Registry (Nov 2020–Mar 2023). Additional cases were included after a national call. They reviewed each patient with confirmed UBA1 mutation and neurological manifestations in multidisciplinary meetings, describing clinical, radiological, and biological characteristics, treatments, and outcomes. 

The results showed that of 291 patients in the French VEXAS Registry, 17 (6%) had central (CNS) or peripheral (PNS) involvement, with 13 additional cases from the national call. Among 30 patients, 21 (70%) had PNS, and 9 (30%) had CNS involvement. PNS cases included polyneuropathy (n = 9), cranial nerve involvement (n = 7), non-length-dependent polyneuropathy (n = 5), and multiple mononeuropathy (n = 3). CNS cases included encephalopathy (n = 6), lacunar infarcts (n = 4), posterior reversible encephalopathy syndrome (n = 3), and optic perineuritis (n = 2). Neurological symptoms improved with steroids (68%), and steroid-sparing agents were used in 90% [ruxolitinib (n = 11), azacitidine (n = 8), tocilizumab (n = 4)]. Mortality was 30% after a median follow-up of 4 years. 

Investigators found that neurological manifestations occurred in a small but possibly underestimated proportion of patients with VEXAS syndrome, affecting both PNS and CNS with heterogeneous presentations. 

Source: link.springer.com/article/10.1007/s00415-025-12902-x